Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 1813
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol DRD2   Gene   UCSC   Ensembl
Aliases D2DR, D2R
Gene name dopamine receptor D2
Alternate names D(2) dopamine receptor, dopamine D2 receptor, dopamine receptor D2 isoform, seven transmembrane helix receptor,
Gene location 11q23.2 (113475278: 113409594)     Exons: 9     NC_000011.10
Gene summary(Entrez) This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing of this gene results in two transcript variants encoding different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing. [provided by RefSeq, Jul 2008]
OMIM 126450

SNPs

rs6277

Strand: -   Allele origin: unknown  Allele change: C/T   Mutation type: snp

  
NC_000011.9   g.113283459G>A
NC_000011.10   g.113412737G>A
NG_008841.1   g.67543C>T
NM_000795.3   c.957C>T
NM_016574.3   c.870C>T
NP_057658.2   p.Pro290=
NP_000786.1   p.Pro319=
XM_005271425.1   c.957C>T
XM_005271426.1   c.954C>T
XM_017017296.1   c.957C>T
XP_005271483.1   p.P
Clinical Significance: Benign

rs2283265

Strand: -   Allele origin: unknown  Allele change: G/T   Mutation type: snp

NC_000011.9   g.113285536C>A
NC_000011.10   g.113414814C>A
NG_008841.1   g.65466G>T
NM_000795.3   c.724-353G>T
NM_016574.3   c.723+607G>T
XM_005271425.1   c.724-353G>T
XM_005271426.1   c.721-353G>T
XM_017017296.1   c.724-353G>T
rs4245146

Strand: +   Allele origin: unknown  Allele change: C/T   Mutation type: snp

  
NC_000011.9   g.113317973T>C
NC_000011.10   g.113447251T>C
NG_008841.1   g.33029A>G
NM_000795.3   c.-31-22569A>G
NM_016574.3   c.-31-22569A>G
XM_005271425.1   c.-31-22569A>G
XM_017017296.1   c.-31-22569A>G
rs4648317

Strand: -   Allele origin: unknown  Allele change: C/T   Mutation type: snp

NC_000011.10   g.113460810G>A
NC_000011.9   g.113331532G>A
NG_008841.1   g.19470C>T
NM_000795.3   c.-32+14266C>T
NM_016574.3   c.-32+14266C>T
XM_005271425.1   c.-32+14848C>T
XM_017017296.1   c.-32+13420C>T

Protein Summary

Protein general information P14416  

Name: D(2) dopamine receptor (Dopamine D2 receptor)

Length: 443  Mass: 50,619

Sequence MDPLNLSWYDDDLERQNWSRPFNGSDGKADRPHYNYYATLLTLLIAVIVFGNVLVCMAVSREKALQTTTNYLIVS
LAVADLLVATLVMPWVVYLEVVGEWKFSRIHCDIFVTLDVMMCTASILNLCAISIDRYTAVAMPMLYNTRYSSKR
RVTVMISIVWVLSFTISCPLLFGLNNADQNECIIANPAFVVYSSIVSFYVPFIVTLLVYIKIYIVLRRRRKRVNT
KRSSRAFRAHLRAPLKGNCTHPEDMKLCTVIMKSNGSFPVNRRRVEAARRAQELEMEMLSSTSPPERTRYSPIPP
SHHQLTLPDPSHHGLHSTPDSPAKPEKNGHAKDHPKIAKIFEIQTMPNGKTRTSLKTMSRRKLSQQKEKKATQML
AIVLGVFIICWLPFFITHILNIHCDCNIPPVLYSAFTWLGYVNSAVNPIIYTTFNIEFRKAFLKILHC
Structural information
Interpro:  IPR001922 IPR000929 IPR000276 IPR017452
Prosite:   PS00237 PS50262

Pfam:  
PF00001

PDB:  
1I15 5AER
PDBsum:   1I15 5AER

DIP:  
5977
MINT:   201447
STRING:   ENSP00000354859;
Other Databases GeneCards:  DRD2;  Malacards:  DRD2

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001591 dopamine neurotransmitter
receptor activity, coupl
ed via Gi/Go
IDA molecular_function
GO:0001591 dopamine neurotransmitter
receptor activity, coupl
ed via Gi/Go
IDA molecular_function
GO:0001591 dopamine neurotransmitter
receptor activity, coupl
ed via Gi/Go
IDA molecular_function
GO:0001659 temperature homeostasis
ISS biological_process
GO:0001666 response to hypoxia
IEA biological_process
GO:0001669 acrosomal vesicle
IEA cellular_component
GO:0001963 synaptic transmission, do
paminergic
IBA biological_process
GO:0001975 response to amphetamine
ISS biological_process
GO:0001976 neurological system proce
ss involved in regulation
of systemic arterial blo
od pressure
ISS biological_process
GO:0002027 regulation of heart rate
ISS biological_process
GO:0002028 regulation of sodium ion
transport
ISS biological_process
GO:0002031 G-protein coupled recepto
r internalization
IEA biological_process
GO:0002052 positive regulation of ne
uroblast proliferation
ISS biological_process
GO:0002092 positive regulation of re
ceptor internalization
IEA biological_process
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005622 intracellular
IEA cellular_component
GO:0005622 intracellular
IEA cellular_component
GO:0005829 cytosol
IEA cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
IC cellular_component
GO:0005887 integral component of pla
sma membrane
IC cellular_component
GO:0005887 integral component of pla
sma membrane
IDA cellular_component
GO:0006874 cellular calcium ion home
ostasis
IC biological_process
GO:0007194 negative regulation of ad
enylate cyclase activity
IEA biological_process
GO:0007194 negative regulation of ad
enylate cyclase activity
IDA biological_process
GO:0007194 negative regulation of ad
enylate cyclase activity
IDA biological_process
GO:0007195 adenylate cyclase-inhibit
ing dopamine receptor sig
naling pathway
IDA biological_process
GO:0007195 adenylate cyclase-inhibit
ing dopamine receptor sig
naling pathway
IDA biological_process
GO:0007195 adenylate cyclase-inhibit
ing dopamine receptor sig
naling pathway
IDA biological_process
GO:0007195 adenylate cyclase-inhibit
ing dopamine receptor sig
naling pathway
IDA biological_process
GO:0007195 adenylate cyclase-inhibit
ing dopamine receptor sig
naling pathway
IDA biological_process
GO:0007270 neuron-neuron synaptic tr
ansmission
ISS biological_process
GO:0007409 axonogenesis
ISS biological_process
GO:0007416 synapse assembly
ISS biological_process
GO:0007608 sensory perception of sme
ll
ISS biological_process
GO:0007616 long-term memory
IEA biological_process
GO:0007625 grooming behavior
IEA biological_process
GO:0007626 locomotory behavior
ISS biological_process
GO:0007628 adult walking behavior
ISS biological_process
GO:0007631 feeding behavior
IEA biological_process
GO:0008104 protein localization
ISS biological_process
GO:0008144 drug binding
IDA molecular_function
GO:0008285 negative regulation of ce
ll proliferation
ISS biological_process
GO:0008306 associative learning
ISS biological_process
GO:0008542 visual learning
ISS biological_process
GO:0009416 response to light stimulu
s
ISS biological_process
GO:0009636 response to toxic substan
ce
IBA biological_process
GO:0010039 response to iron ion
IEA biological_process
GO:0014059 regulation of dopamine se
cretion
IBA biological_process
GO:0014069 postsynaptic density
IEA cellular_component
GO:0014854 response to inactivity
IEA biological_process
GO:0015459 potassium channel regulat
or activity
NAS molecular_function
GO:0016055 Wnt signaling pathway
IEA biological_process
GO:0016328 lateral plasma membrane
IEA cellular_component
GO:0021756 striatum development
IEA biological_process
GO:0021769 orbitofrontal cortex deve
lopment
IEA biological_process
GO:0021853 cerebral cortex GABAergic
interneuron migration
ISS biological_process
GO:0021984 adenohypophysis developme
nt
ISS biological_process
GO:0030139 endocytic vesicle
IEA cellular_component
GO:0030336 negative regulation of ce
ll migration
ISS biological_process
GO:0030424 axon
ISS cellular_component
GO:0030425 dendrite
ISS cellular_component
GO:0030432 peristalsis
ISS biological_process
GO:0030672 synaptic vesicle membrane
IBA cellular_component
GO:0030814 regulation of cAMP metabo
lic process
IDA biological_process
GO:0031223 auditory behavior
IEA biological_process
GO:0032147 activation of protein kin
ase activity
IEA biological_process
GO:0032228 regulation of synaptic tr
ansmission, GABAergic
ISS biological_process
GO:0032467 positive regulation of cy
tokinesis
IMP biological_process
GO:0032922 circadian regulation of g
ene expression
ISS biological_process
GO:0033602 negative regulation of do
pamine secretion
IEA biological_process
GO:0034776 response to histamine
IDA biological_process
GO:0035094 response to nicotine
IEA biological_process
GO:0035240 dopamine binding
IBA molecular_function
GO:0035255 ionotropic glutamate rece
ptor binding
IEA molecular_function
GO:0035556 intracellular signal tran
sduction
IDA biological_process
GO:0035556 intracellular signal tran
sduction
IDA biological_process
GO:0035810 positive regulation of ur
ine volume
IEA biological_process
GO:0035815 positive regulation of re
nal sodium excretion
IEA biological_process
GO:0036126 sperm flagellum
IEA cellular_component
GO:0040018 positive regulation of mu
lticellular organism grow
th
IEA biological_process
GO:0042220 response to cocaine
ISS biological_process
GO:0042321 negative regulation of ci
rcadian sleep/wake cycle,
sleep
IEA biological_process
GO:0042417 dopamine metabolic proces
s
IC biological_process
GO:0042493 response to drug
ISS biological_process
GO:0042493 response to drug
IBA biological_process
GO:0042802 identical protein binding
IPI molecular_function
GO:0042803 protein homodimerization
activity
IEA molecular_function
GO:0043197 dendritic spine
IEA cellular_component
GO:0043204 perikaryon
IEA cellular_component
GO:0043266 regulation of potassium i
on transport
ISS biological_process
GO:0043266 regulation of potassium i
on transport
IBA biological_process
GO:0043278 response to morphine
ISS biological_process
GO:0043473 pigmentation
IEA biological_process
GO:0043666 regulation of phosphoprot
ein phosphatase activity
IEA biological_process
GO:0043679 axon terminus
IEA cellular_component
GO:0045745 positive regulation of G-
protein coupled receptor
protein signaling pathway
IEA biological_process
GO:0045776 negative regulation of bl
ood pressure
ISS biological_process
GO:0045824 negative regulation of in
nate immune response
IEA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IEA biological_process
GO:0046488 phosphatidylinositol meta
bolic process
ISS biological_process
GO:0046676 negative regulation of in
sulin secretion
IEA biological_process
GO:0046982 protein heterodimerizatio
n activity
IEA molecular_function
GO:0048148 behavioral response to co
caine
ISS biological_process
GO:0048148 behavioral response to co
caine
IBA biological_process
GO:0048149 behavioral response to et
hanol
ISS biological_process
GO:0048149 behavioral response to et
hanol
IBA biological_process
GO:0048169 regulation of long-term n
euronal synaptic plastici
ty
ISS biological_process
GO:0048678 response to axon injury
IEA biological_process
GO:0048755 branching morphogenesis o
f a nerve
ISS biological_process
GO:0050482 arachidonic acid secretio
n
IDA biological_process
GO:0050709 negative regulation of pr
otein secretion
IDA biological_process
GO:0051209 release of sequestered ca
lcium ion into cytosol
ISS biological_process
GO:0051481 negative regulation of cy
tosolic calcium ion conce
ntration
IBA biological_process
GO:0051482 positive regulation of cy
tosolic calcium ion conce
ntration involved in phos
pholipase C-activating G-
protein coupled signaling
pathway
IDA biological_process
GO:0051482 positive regulation of cy
tosolic calcium ion conce
ntration involved in phos
pholipase C-activating G-
protein coupled signaling
pathway
IDA biological_process
GO:0051584 regulation of dopamine up
take involved in synaptic
transmission
IC biological_process
GO:0051586 positive regulation of do
pamine uptake involved in
synaptic transmission
ISS biological_process
GO:0051823 regulation of synapse str
uctural plasticity
IEA biological_process
GO:0051898 negative regulation of pr
otein kinase B signaling
ISS biological_process
GO:0051898 negative regulation of pr
otein kinase B signaling
NAS biological_process
GO:0051967 negative regulation of sy
naptic transmission, glut
amatergic
ISS biological_process
GO:0051967 negative regulation of sy
naptic transmission, glut
amatergic
IBA biological_process
GO:0060124 positive regulation of gr
owth hormone secretion
ISS biological_process
GO:0060134 prepulse inhibition
ISS biological_process
GO:0060158 phospholipase C-activatin
g dopamine receptor signa
ling pathway
IGI biological_process
GO:0060160 negative regulation of do
pamine receptor signaling
pathway
ISS biological_process
GO:0060170 ciliary membrane
IDA cellular_component
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
IEA biological_process
GO:0090325 regulation of locomotion
involved in locomotory be
havior
IEA biological_process
GO:0099565 chemical synaptic transmi
ssion, postsynaptic
NAS biological_process
GO:1900168 positive regulation of gl
ial cell-derived neurotro
phic factor secretion
IDA biological_process
GO:1900273 positive regulation of lo
ng-term synaptic potentia
tion
IEA biological_process
GO:1901386 negative regulation of vo
ltage-gated calcium chann
el activity
IEA biological_process
GO:1901386 negative regulation of vo
ltage-gated calcium chann
el activity
IDA biological_process
GO:0004935 adrenergic receptor activ
ity
IBA molecular_function
GO:0071880 adenylate cyclase-activat
ing adrenergic receptor s
ignaling pathway
IBA biological_process
GO:0001591 dopamine neurotransmitter
receptor activity, coupl
ed via Gi/Go
IEA molecular_function
GO:0001591 dopamine neurotransmitter
receptor activity, coupl
ed via Gi/Go
IDA molecular_function
GO:0001591 dopamine neurotransmitter
receptor activity, coupl
ed via Gi/Go
IDA molecular_function
GO:0001591 dopamine neurotransmitter
receptor activity, coupl
ed via Gi/Go
IDA molecular_function
GO:0001659 temperature homeostasis
IEA biological_process
GO:0001659 temperature homeostasis
ISS biological_process
GO:0001666 response to hypoxia
IEA biological_process
GO:0001669 acrosomal vesicle
IEA cellular_component
GO:0001963 synaptic transmission, do
paminergic
IEA biological_process
GO:0001963 synaptic transmission, do
paminergic
IBA biological_process
GO:0001964 startle response
IEA biological_process
GO:0001975 response to amphetamine
IEA biological_process
GO:0001975 response to amphetamine
ISS biological_process
GO:0001976 neurological system proce
ss involved in regulation
of systemic arterial blo
od pressure
IEA biological_process
GO:0001976 neurological system proce
ss involved in regulation
of systemic arterial blo
od pressure
ISS biological_process
GO:0002027 regulation of heart rate
IEA biological_process
GO:0002027 regulation of heart rate
ISS biological_process
GO:0002028 regulation of sodium ion
transport
IEA biological_process
GO:0002028 regulation of sodium ion
transport
ISS biological_process
GO:0002031 G-protein coupled recepto
r internalization
IEA biological_process
GO:0002052 positive regulation of ne
uroblast proliferation
IEA biological_process
GO:0002052 positive regulation of ne
uroblast proliferation
ISS biological_process
GO:0002092 positive regulation of re
ceptor internalization
IEA biological_process
GO:0004871 signal transducer activit
y
IEA molecular_function
GO:0004930 G-protein coupled recepto
r activity
IEA molecular_function
GO:0004930 G-protein coupled recepto
r activity
IEA molecular_function
GO:0004930 G-protein coupled recepto
r activity
IEA molecular_function
GO:0004952 dopamine neurotransmitter
receptor activity
IEA molecular_function
GO:0004952 dopamine neurotransmitter
receptor activity
IEA molecular_function
GO:0005102 receptor binding
IEA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005622 intracellular
IEA cellular_component
GO:0005622 intracellular
IEA cellular_component
GO:0005622 intracellular
IEA cellular_component
GO:0005829 cytosol
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
IEA cellular_component
GO:0005887 integral component of pla
sma membrane
IC cellular_component
GO:0005887 integral component of pla
sma membrane
IC cellular_component
GO:0005887 integral component of pla
sma membrane
IDA cellular_component
GO:0006874 cellular calcium ion home
ostasis
IC biological_process
GO:0007165 signal transduction
IEA biological_process
GO:0007186 G-protein coupled recepto
r signaling pathway
IEA biological_process
GO:0007186 G-protein coupled recepto
r signaling pathway
IEA biological_process
GO:0007186 G-protein coupled recepto
r signaling pathway
IEA biological_process
GO:0007188 adenylate cyclase-modulat
ing G-protein coupled rec
eptor signaling pathway
IEA biological_process
GO:0007194 negative regulation of ad
enylate cyclase activity
IEA biological_process
GO:0007194 negative regulation of ad
enylate cyclase activity
IDA biological_process
GO:0007194 negative regulation of ad
enylate cyclase activity
IDA biological_process
GO:0007195 adenylate cyclase-inhibit
ing dopamine receptor sig
naling pathway
IEA biological_process
GO:0007195 adenylate cyclase-inhibit
ing dopamine receptor sig
naling pathway
IEA biological_process
GO:0007195 adenylate cyclase-inhibit
ing dopamine receptor sig
naling pathway
IDA biological_process
GO:0007195 adenylate cyclase-inhibit
ing dopamine receptor sig
naling pathway
IDA biological_process
GO:0007195 adenylate cyclase-inhibit
ing dopamine receptor sig
naling pathway
IDA biological_process
GO:0007195 adenylate cyclase-inhibit
ing dopamine receptor sig
naling pathway
IDA biological_process
GO:0007195 adenylate cyclase-inhibit
ing dopamine receptor sig
naling pathway
IDA biological_process
GO:0007212 dopamine receptor signali
ng pathway
IEA biological_process
GO:0007270 neuron-neuron synaptic tr
ansmission
IEA biological_process
GO:0007270 neuron-neuron synaptic tr
ansmission
ISS biological_process
GO:0007409 axonogenesis
IEA biological_process
GO:0007409 axonogenesis
ISS biological_process
GO:0007416 synapse assembly
IEA biological_process
GO:0007416 synapse assembly
ISS biological_process
GO:0007608 sensory perception of sme
ll
IEA biological_process
GO:0007608 sensory perception of sme
ll
ISS biological_process
GO:0007616 long-term memory
IEA biological_process
GO:0007625 grooming behavior
IEA biological_process
GO:0007626 locomotory behavior
IEA biological_process
GO:0007626 locomotory behavior
ISS biological_process
GO:0007628 adult walking behavior
IEA biological_process
GO:0007628 adult walking behavior
ISS biological_process
GO:0007631 feeding behavior
IEA biological_process
GO:0008104 protein localization
IEA biological_process
GO:0008104 protein localization
ISS biological_process
GO:0008144 drug binding
IEA molecular_function
GO:0008144 drug binding
IDA molecular_function
GO:0008285 negative regulation of ce
ll proliferation
IEA biological_process
GO:0008285 negative regulation of ce
ll proliferation
ISS biological_process
GO:0008306 associative learning
IEA biological_process
GO:0008306 associative learning
ISS biological_process
GO:0008542 visual learning
IEA biological_process
GO:0008542 visual learning
ISS biological_process
GO:0009416 response to light stimulu
s
IEA biological_process
GO:0009416 response to light stimulu
s
ISS biological_process
GO:0009636 response to toxic substan
ce
IEA biological_process
GO:0009636 response to toxic substan
ce
IBA biological_process
GO:0010039 response to iron ion
IEA biological_process
GO:0014059 regulation of dopamine se
cretion
IEA biological_process
GO:0014059 regulation of dopamine se
cretion
IBA biological_process
GO:0014069 postsynaptic density
IEA cellular_component
GO:0014854 response to inactivity
IEA biological_process
GO:0015459 potassium channel regulat
or activity
NAS molecular_function
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016055 Wnt signaling pathway
IEA biological_process
GO:0016328 lateral plasma membrane
IEA cellular_component
GO:0021756 striatum development
IEA biological_process
GO:0021769 orbitofrontal cortex deve
lopment
IEA biological_process
GO:0021853 cerebral cortex GABAergic
interneuron migration
IEA biological_process
GO:0021853 cerebral cortex GABAergic
interneuron migration
ISS biological_process
GO:0021984 adenohypophysis developme
nt
IEA biological_process
GO:0021984 adenohypophysis developme
nt
ISS biological_process
GO:0030139 endocytic vesicle
IEA cellular_component
GO:0030336 negative regulation of ce
ll migration
IEA biological_process
GO:0030336 negative regulation of ce
ll migration
ISS biological_process
GO:0030424 axon
IEA cellular_component
GO:0030424 axon
ISS cellular_component
GO:0030425 dendrite
IEA cellular_component
GO:0030425 dendrite
ISS cellular_component
GO:0030432 peristalsis
IEA biological_process
GO:0030432 peristalsis
ISS biological_process
GO:0030534 adult behavior
IEA biological_process
GO:0030672 synaptic vesicle membrane
IEA cellular_component
GO:0030672 synaptic vesicle membrane
IBA cellular_component
GO:0030814 regulation of cAMP metabo
lic process
IDA biological_process
GO:0030900 forebrain development
IEA biological_process
GO:0031223 auditory behavior
IEA biological_process
GO:0031410 cytoplasmic vesicle
IEA cellular_component
GO:0032147 activation of protein kin
ase activity
IEA biological_process
GO:0032228 regulation of synaptic tr
ansmission, GABAergic
IEA biological_process
GO:0032228 regulation of synaptic tr
ansmission, GABAergic
ISS biological_process
GO:0032467 positive regulation of cy
tokinesis
IMP biological_process
GO:0032922 circadian regulation of g
ene expression
IEA biological_process
GO:0032922 circadian regulation of g
ene expression
ISS biological_process
GO:0033602 negative regulation of do
pamine secretion
IEA biological_process
GO:0034776 response to histamine
IDA biological_process
GO:0035094 response to nicotine
IEA biological_process
GO:0035240 dopamine binding
IEA molecular_function
GO:0035240 dopamine binding
IBA molecular_function
GO:0035255 ionotropic glutamate rece
ptor binding
IEA molecular_function
GO:0035556 intracellular signal tran
sduction
IDA biological_process
GO:0035556 intracellular signal tran
sduction
IDA biological_process
GO:0035810 positive regulation of ur
ine volume
IEA biological_process
GO:0035815 positive regulation of re
nal sodium excretion
IEA biological_process
GO:0036126 sperm flagellum
IEA cellular_component
GO:0040018 positive regulation of mu
lticellular organism grow
th
IEA biological_process
GO:0042220 response to cocaine
IEA biological_process
GO:0042220 response to cocaine
ISS biological_process
GO:0042321 negative regulation of ci
rcadian sleep/wake cycle,
sleep
IEA biological_process
GO:0042417 dopamine metabolic proces
s
IEA biological_process
GO:0042417 dopamine metabolic proces
s
IC biological_process
GO:0042493 response to drug
IEA biological_process
GO:0042493 response to drug
ISS biological_process
GO:0042493 response to drug
IBA biological_process
GO:0042802 identical protein binding
IPI molecular_function
GO:0042803 protein homodimerization
activity
IEA molecular_function
GO:0043197 dendritic spine
IEA cellular_component
GO:0043204 perikaryon
IEA cellular_component
GO:0043266 regulation of potassium i
on transport
IEA biological_process
GO:0043266 regulation of potassium i
on transport
ISS biological_process
GO:0043266 regulation of potassium i
on transport
IBA biological_process
GO:0043278 response to morphine
IEA biological_process
GO:0043278 response to morphine
ISS biological_process
GO:0043408 regulation of MAPK cascad
e
IEA biological_process
GO:0043473 pigmentation
IEA biological_process
GO:0043666 regulation of phosphoprot
ein phosphatase activity
IEA biological_process
GO:0043679 axon terminus
IEA cellular_component
GO:0045471 response to ethanol
IEA biological_process
GO:0045745 positive regulation of G-
protein coupled receptor
protein signaling pathway
IEA biological_process
GO:0045776 negative regulation of bl
ood pressure
IEA biological_process
GO:0045776 negative regulation of bl
ood pressure
ISS biological_process
GO:0045824 negative regulation of in
nate immune response
IEA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IEA biological_process
GO:0046488 phosphatidylinositol meta
bolic process
IEA biological_process
GO:0046488 phosphatidylinositol meta
bolic process
ISS biological_process
GO:0046676 negative regulation of in
sulin secretion
IEA biological_process
GO:0046717 acid secretion
IEA biological_process
GO:0046982 protein heterodimerizatio
n activity
IEA molecular_function
GO:0048148 behavioral response to co
caine
IEA biological_process
GO:0048148 behavioral response to co
caine
ISS biological_process
GO:0048148 behavioral response to co
caine
IBA biological_process
GO:0048149 behavioral response to et
hanol
IEA biological_process
GO:0048149 behavioral response to et
hanol
ISS biological_process
GO:0048149 behavioral response to et
hanol
IBA biological_process
GO:0048169 regulation of long-term n
euronal synaptic plastici
ty
IEA biological_process
GO:0048169 regulation of long-term n
euronal synaptic plastici
ty
ISS biological_process
GO:0048678 response to axon injury
IEA biological_process
GO:0048755 branching morphogenesis o
f a nerve
IEA biological_process
GO:0048755 branching morphogenesis o
f a nerve
ISS biological_process
GO:0050482 arachidonic acid secretio
n
IDA biological_process
GO:0050709 negative regulation of pr
otein secretion
IDA biological_process
GO:0050804 modulation of synaptic tr
ansmission
IEA biological_process
GO:0051209 release of sequestered ca
lcium ion into cytosol
IEA biological_process
GO:0051209 release of sequestered ca
lcium ion into cytosol
ISS biological_process
GO:0051481 negative regulation of cy
tosolic calcium ion conce
ntration
IEA biological_process
GO:0051481 negative regulation of cy
tosolic calcium ion conce
ntration
IBA biological_process
GO:0051482 positive regulation of cy
tosolic calcium ion conce
ntration involved in phos
pholipase C-activating G-
protein coupled signaling
pathway
IDA biological_process
GO:0051482 positive regulation of cy
tosolic calcium ion conce
ntration involved in phos
pholipase C-activating G-
protein coupled signaling
pathway
IDA biological_process
GO:0051584 regulation of dopamine up
take involved in synaptic
transmission
IEA biological_process
GO:0051584 regulation of dopamine up
take involved in synaptic
transmission
IC biological_process
GO:0051586 positive regulation of do
pamine uptake involved in
synaptic transmission
IEA biological_process
GO:0051586 positive regulation of do
pamine uptake involved in
synaptic transmission
ISS biological_process
GO:0051823 regulation of synapse str
uctural plasticity
IEA biological_process
GO:0051898 negative regulation of pr
otein kinase B signaling
IEA biological_process
GO:0051898 negative regulation of pr
otein kinase B signaling
ISS biological_process
GO:0051898 negative regulation of pr
otein kinase B signaling
NAS biological_process
GO:0051967 negative regulation of sy
naptic transmission, glut
amatergic
IEA biological_process
GO:0051967 negative regulation of sy
naptic transmission, glut
amatergic
ISS biological_process
GO:0051967 negative regulation of sy
naptic transmission, glut
amatergic
IBA biological_process
GO:0060124 positive regulation of gr
owth hormone secretion
IEA biological_process
GO:0060124 positive regulation of gr
owth hormone secretion
ISS biological_process
GO:0060134 prepulse inhibition
IEA biological_process
GO:0060134 prepulse inhibition
ISS biological_process
GO:0060158 phospholipase C-activatin
g dopamine receptor signa
ling pathway
IEA biological_process
GO:0060158 phospholipase C-activatin
g dopamine receptor signa
ling pathway
IGI biological_process
GO:0060160 negative regulation of do
pamine receptor signaling
pathway
IEA biological_process
GO:0060160 negative regulation of do
pamine receptor signaling
pathway
ISS biological_process
GO:0060170 ciliary membrane
IDA cellular_component
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
IEA biological_process
GO:0090325 regulation of locomotion
involved in locomotory be
havior
IEA biological_process
GO:0099565 chemical synaptic transmi
ssion, postsynaptic
NAS biological_process
GO:1900168 positive regulation of gl
ial cell-derived neurotro
phic factor secretion
IDA biological_process
GO:1900273 positive regulation of lo
ng-term synaptic potentia
tion
IEA biological_process
GO:1901386 negative regulation of vo
ltage-gated calcium chann
el activity
IEA biological_process
GO:1901386 negative regulation of vo
ltage-gated calcium chann
el activity
IDA biological_process
GO:0004935 adrenergic receptor activ
ity
IBA molecular_function
GO:0071880 adenylate cyclase-activat
ing adrenergic receptor s
ignaling pathway
IBA biological_process
GO:0001591 dopamine neurotransmitter
receptor activity, coupl
ed via Gi/Go
IDA molecular_function
GO:0001591 dopamine neurotransmitter
receptor activity, coupl
ed via Gi/Go
IDA molecular_function
GO:0001591 dopamine neurotransmitter
receptor activity, coupl
ed via Gi/Go
IDA molecular_function
GO:0001659 temperature homeostasis
ISS biological_process
GO:0001963 synaptic transmission, do
paminergic
IBA biological_process
GO:0001975 response to amphetamine
ISS biological_process
GO:0001976 neurological system proce
ss involved in regulation
of systemic arterial blo
od pressure
ISS biological_process
GO:0002027 regulation of heart rate
ISS biological_process
GO:0002028 regulation of sodium ion
transport
ISS biological_process
GO:0002052 positive regulation of ne
uroblast proliferation
ISS biological_process
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005886 plasma membrane
IDA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
IC cellular_component
GO:0005887 integral component of pla
sma membrane
IC cellular_component
GO:0005887 integral component of pla
sma membrane
IDA cellular_component
GO:0006874 cellular calcium ion home
ostasis
IC biological_process
GO:0007194 negative regulation of ad
enylate cyclase activity
IDA biological_process
GO:0007194 negative regulation of ad
enylate cyclase activity
IDA biological_process
GO:0007195 adenylate cyclase-inhibit
ing dopamine receptor sig
naling pathway
IDA biological_process
GO:0007195 adenylate cyclase-inhibit
ing dopamine receptor sig
naling pathway
IDA biological_process
GO:0007195 adenylate cyclase-inhibit
ing dopamine receptor sig
naling pathway
IDA biological_process
GO:0007195 adenylate cyclase-inhibit
ing dopamine receptor sig
naling pathway
IDA biological_process
GO:0007195 adenylate cyclase-inhibit
ing dopamine receptor sig
naling pathway
IDA biological_process
GO:0007270 neuron-neuron synaptic tr
ansmission
ISS biological_process
GO:0007409 axonogenesis
ISS biological_process
GO:0007416 synapse assembly
ISS biological_process
GO:0007608 sensory perception of sme
ll
ISS biological_process
GO:0007626 locomotory behavior
ISS biological_process
GO:0007628 adult walking behavior
ISS biological_process
GO:0008104 protein localization
ISS biological_process
GO:0008144 drug binding
IDA molecular_function
GO:0008285 negative regulation of ce
ll proliferation
ISS biological_process
GO:0008306 associative learning
ISS biological_process
GO:0008542 visual learning
ISS biological_process
GO:0009416 response to light stimulu
s
ISS biological_process
GO:0009636 response to toxic substan
ce
IBA biological_process
GO:0014059 regulation of dopamine se
cretion
IBA biological_process
GO:0015459 potassium channel regulat
or activity
NAS molecular_function
GO:0021853 cerebral cortex GABAergic
interneuron migration
ISS biological_process
GO:0021984 adenohypophysis developme
nt
ISS biological_process
GO:0030336 negative regulation of ce
ll migration
ISS biological_process
GO:0030424 axon
ISS cellular_component
GO:0030425 dendrite
ISS cellular_component
GO:0030432 peristalsis
ISS biological_process
GO:0030672 synaptic vesicle membrane
IBA cellular_component
GO:0030814 regulation of cAMP metabo
lic process
IDA biological_process
GO:0032228 regulation of synaptic tr
ansmission, GABAergic
ISS biological_process
GO:0032467 positive regulation of cy
tokinesis
IMP biological_process
GO:0032922 circadian regulation of g
ene expression
ISS biological_process
GO:0034776 response to histamine
IDA biological_process
GO:0035240 dopamine binding
IBA molecular_function
GO:0035556 intracellular signal tran
sduction
IDA biological_process
GO:0035556 intracellular signal tran
sduction
IDA biological_process
GO:0042220 response to cocaine
ISS biological_process
GO:0042417 dopamine metabolic proces
s
IC biological_process
GO:0042493 response to drug
ISS biological_process
GO:0042493 response to drug
IBA biological_process
GO:0042802 identical protein binding
IPI molecular_function
GO:0043266 regulation of potassium i
on transport
ISS biological_process
GO:0043266 regulation of potassium i
on transport
IBA biological_process
GO:0043278 response to morphine
ISS biological_process
GO:0045776 negative regulation of bl
ood pressure
ISS biological_process
GO:0046488 phosphatidylinositol meta
bolic process
ISS biological_process
GO:0048148 behavioral response to co
caine
ISS biological_process
GO:0048148 behavioral response to co
caine
IBA biological_process
GO:0048149 behavioral response to et
hanol
ISS biological_process
GO:0048149 behavioral response to et
hanol
IBA biological_process
GO:0048169 regulation of long-term n
euronal synaptic plastici
ty
ISS biological_process
GO:0048755 branching morphogenesis o
f a nerve
ISS biological_process
GO:0050482 arachidonic acid secretio
n
IDA biological_process
GO:0050709 negative regulation of pr
otein secretion
IDA biological_process
GO:0051209 release of sequestered ca
lcium ion into cytosol
ISS biological_process
GO:0051481 negative regulation of cy
tosolic calcium ion conce
ntration
IBA biological_process
GO:0051482 positive regulation of cy
tosolic calcium ion conce
ntration involved in phos
pholipase C-activating G-
protein coupled signaling
pathway
IDA biological_process
GO:0051482 positive regulation of cy
tosolic calcium ion conce
ntration involved in phos
pholipase C-activating G-
protein coupled signaling
pathway
IDA biological_process
GO:0051584 regulation of dopamine up
take involved in synaptic
transmission
IC biological_process
GO:0051586 positive regulation of do
pamine uptake involved in
synaptic transmission
ISS biological_process
GO:0051898 negative regulation of pr
otein kinase B signaling
ISS biological_process
GO:0051898 negative regulation of pr
otein kinase B signaling
NAS biological_process
GO:0051967 negative regulation of sy
naptic transmission, glut
amatergic
ISS biological_process
GO:0051967 negative regulation of sy
naptic transmission, glut
amatergic
IBA biological_process
GO:0060124 positive regulation of gr
owth hormone secretion
ISS biological_process
GO:0060134 prepulse inhibition
ISS biological_process
GO:0060158 phospholipase C-activatin
g dopamine receptor signa
ling pathway
IGI biological_process
GO:0060160 negative regulation of do
pamine receptor signaling
pathway
ISS biological_process
GO:0060170 ciliary membrane
IDA cellular_component
GO:0099565 chemical synaptic transmi
ssion, postsynaptic
NAS biological_process
GO:1900168 positive regulation of gl
ial cell-derived neurotro
phic factor secretion
IDA biological_process
GO:1901386 negative regulation of vo
ltage-gated calcium chann
el activity
IDA biological_process
GO:0004935 adrenergic receptor activ
ity
IBA molecular_function
GO:0071880 adenylate cyclase-activat
ing adrenergic receptor s
ignaling pathway
IBA biological_process

KEGG pathways

hsa04015  Rap1 signaling pathway
hsa04080  Neuroactive ligand-receptor interaction
hsa04024  cAMP signaling pathway
hsa05034  Alcoholism
hsa04540  Gap junction
hsa05012  Parkinson's disease
hsa04728  Dopaminergic synapse
hsa05030  Cocaine addiction

Diseases

Associated diseases References
Anovulation PMID: 7962432
Attention-deficit hyperactivity disorder (ADHD) PMID: 15457500
Autism PMID: 19997080
Bipolar disorder PMID: 11992560
Cancer PMID: 12712467
Depression PMID: 18501970
Diabetes PMID: 11093282
Dyslexia PMID: 14505070
Endometriosis PMID: 25955176
Ovarian hyperstimulation syndrome (OHSS) PMID: 21646367
Mood disorders PMID: 10402492
Obesity PMID: 19282821
Panic disorder PMID: 12967601
Parkinson's disease PMID: 12428723
Personality disorders PMID: 12898574
Polycystic ovary syndrome (PCOS) PMID: 21646367
Psychiatric disorders PMID: 15542731
Endometriosis associated infertility INFBASE23260856
Endometriosis INFBASE23260856
Schizoaffective disorder PMID: 17455212
Schizophrenia PMID: 15140279
Stress disorder PMID: 10088049
Tardive dyskinesia PMID: 16160620
Tourette syndrome PMID: 15094788

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
23260856 Endometrio
sis
Polymorphism 1 occurs in nucleotide 3420 (cytosine to thymine, 313 histidine), and polymorphism 2 occurs in nucleotide 3438 (cytosine to thymine, 319 proline) Brazil
107 women with
infertility cau
sed by peritone
al endometriosi
s or patients e
nrolled for tub
al ligation.
Female infertility VEGF
D2
VEGFR-2
Show abstract