Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 4915
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol NTRK2   Gene   UCSC   Ensembl
Aliases GP145-TrkB, TRKB, trk-B
Gene name neurotrophic receptor tyrosine kinase 2
Alternate names BDNF/NT-3 growth factors receptor, BDNF-tropomyosine receptor kinase B, neurotrophic tyrosine kinase receptor type 2, tropomyosin-related kinase B, tyrosine kinase receptor B,
Gene location 9q21.33 (84668367: 85027069)     Exons: 23     NC_000009.12
Gene summary(Entrez) This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation. Mutations in this gene have been associated with obesity and mood disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
OMIM 600456

Protein Summary

Protein general information Q16620  

Name: BDNF/NT 3 growth factors receptor (EC 2.7.10.1) (GP145 TrkB) (Trk B) (Neurotrophic tyrosine kinase receptor type 2) (TrkB tyrosine kinase) (Tropomyosin related kinase B)

Length: 822  Mass: 91,999

Tissue specificity: Isoform TrkB is expressed in the central and peripheral nervous system. In the central nervous system (CNS), expression is observed in the cerebral cortex, hippocampus, thalamus, choroid plexus, granular layer of the cerebellum, brain

Sequence MSSWIRWHGPAMARLWGFCWLVVGFWRAAFACPTSCKCSASRIWCSDPSPGIVAFPRLEPNSVDPENITEIFIAN
QKRLEIINEDDVEAYVGLRNLTIVDSGLKFVAHKAFLKNSNLQHINFTRNKLTSLSRKHFRHLDLSELILVGNPF
TCSCDIMWIKTLQEAKSSPDTQDLYCLNESSKNIPLANLQIPNCGLPSANLAAPNLTVEEGKSITLSCSVAGDPV
PNMYWDVGNLVSKHMNETSHTQGSLRITNISSDDSGKQISCVAENLVGEDQDSVNLTVHFAPTITFLESPTSDHH
WCIPFTVKGNPKPALQWFYNGAILNESKYICTKIHVTNHTEYHGCLQLDNPTHMNNGDYTLIAKNEYGKDEKQIS
AHFMGWPGIDDGANPNYPDVIYEDYGTAANDIGDTTNRSNEIPSTDVTDKTGREHLSVYAVVVIASVVGFCLLVM
LFLLKLARHSKFGMKGPASVISNDDDSASPLHHISNGSNTPSSSEGGPDAVIIGMTKIPVIENPQYFGITNSQLK
PDTFVQHIKRHNIVLKRELGEGAFGKVFLAECYNLCPEQDKILVAVKTLKDASDNARKDFHREAELLTNLQHEHI
VKFYGVCVEGDPLIMVFEYMKHGDLNKFLRAHGPDAVLMAEGNPPTELTQSQMLHIAQQIAAGMVYLASQHFVHR
DLATRNCLVGENLLVKIGDFGMSRDVYSTDYYRVGGHTMLPIRWMPPESIMYRKFTTESDVWSLGVVLWEIFTYG
KQPWYQLSNNEVIECITQGRVLQRPRTCPQEVYELMLGCWQREPHMRKNIKGIHTLLQNLAKASPVYLDILG
Structural information
Protein Domains
LRRNT (32-61)
LRRCT (148-196)
Ig-like (197-282)
Ig-like (295-365)
Protein (538-807)
Interpro:  IPR000483 IPR007110 IPR013783 IPR013098 IPR003599 IPR003598 IPR011009 IPR032675 IPR001611 IPR000372 IPR031635 IPR000719 IPR017441 IPR001245 IPR020455 IPR008266 IPR020635 IPR020777 IPR002011
Prosite:   PS50835 PS00107 PS50011 PS00109 PS00239

Pfam:  
PF07679 PF13855 PF01462 PF07714 PF16920

PDB:  
1HCF 1WWB 2MFQ 4ASZ 4AT3 4AT4 4AT5
PDBsum:   1HCF 1WWB 2MFQ 4ASZ 4AT3 4AT4 4AT5

DIP:  
5720
MINT:   156841
STRING:   ENSP00000277120;
Other Databases GeneCards:  NTRK2;  Malacards:  NTRK2

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001570 vasculogenesis
IEA biological_process
GO:0001764 neuron migration
ISS biological_process
GO:0001934 positive regulation of pr
otein phosphorylation
TAS biological_process
GO:0005524 ATP binding
IEA molecular_function
GO:0005791 rough endoplasmic reticul
um
IEA cellular_component
GO:0005829 cytosol
IEA cellular_component
GO:0005887 integral component of pla
sma membrane
IDA cellular_component
GO:0006954 inflammatory response
IEA biological_process
GO:0007528 neuromuscular junction de
velopment
IEA biological_process
GO:0007568 aging
IEA biological_process
GO:0007612 learning
ISS biological_process
GO:0007616 long-term memory
IEA biological_process
GO:0007623 circadian rhythm
IEA biological_process
GO:0007631 feeding behavior
IEA biological_process
GO:0008284 positive regulation of ce
ll proliferation
ISS biological_process
GO:0009416 response to light stimulu
s
IEA biological_process
GO:0009986 cell surface
IEA cellular_component
GO:0010008 endosome membrane
IEA cellular_component
GO:0010628 positive regulation of ge
ne expression
ISS biological_process
GO:0010976 positive regulation of ne
uron projection developme
nt
ISS biological_process
GO:0010996 response to auditory stim
ulus
IEA biological_process
GO:0014047 glutamate secretion
IEA biological_process
GO:0014068 positive regulation of ph
osphatidylinositol 3-kina
se signaling
ISS biological_process
GO:0018108 peptidyl-tyrosine phospho
rylation
IEA biological_process
GO:0021954 central nervous system ne
uron development
ISS biological_process
GO:0021987 cerebral cortex developme
nt
ISS biological_process
GO:0030182 neuron differentiation
ISS biological_process
GO:0030426 growth cone
IEA cellular_component
GO:0030971 receptor tyrosine kinase
binding
IEA molecular_function
GO:0031547 brain-derived neurotrophi
c factor receptor signali
ng pathway
IMP biological_process
GO:0031547 brain-derived neurotrophi
c factor receptor signali
ng pathway
TAS biological_process
GO:0033138 positive regulation of pe
ptidyl-serine phosphoryla
tion
IEA biological_process
GO:0035584 calcium-mediated signalin
g using intracellular cal
cium source
IEA biological_process
GO:0038179 neurotrophin signaling pa
thway
IEA biological_process
GO:0042490 mechanoreceptor different
iation
IEA biological_process
GO:0042803 protein homodimerization
activity
ISS molecular_function
GO:0043087 regulation of GTPase acti
vity
ISS biological_process
GO:0043121 neurotrophin binding
ISS molecular_function
GO:0043121 neurotrophin binding
IDA molecular_function
GO:0043195 terminal bouton
IEA cellular_component
GO:0043197 dendritic spine
IEA cellular_component
GO:0043204 perikaryon
IEA cellular_component
GO:0043235 receptor complex
IDA cellular_component
GO:0043410 positive regulation of MA
PK cascade
ISS biological_process
GO:0043524 negative regulation of ne
uron apoptotic process
ISS biological_process
GO:0045211 postsynaptic membrane
IEA cellular_component
GO:0046548 retinal rod cell developm
ent
IEA biological_process
GO:0046777 protein autophosphorylati
on
ISS biological_process
GO:0046928 regulation of neurotransm
itter secretion
IEA biological_process
GO:0048403 brain-derived neurotrophi
c factor binding
ISS molecular_function
GO:0048709 oligodendrocyte different
iation
IEA biological_process
GO:0048786 presynaptic active zone
IEA cellular_component
GO:0048935 peripheral nervous system
neuron development
IEA biological_process
GO:0050772 positive regulation of ax
onogenesis
ISS biological_process
GO:0050773 regulation of dendrite de
velopment
IEA biological_process
GO:0051896 regulation of protein kin
ase B signaling
IEA biological_process
GO:0051965 positive regulation of sy
napse assembly
IEA biological_process
GO:0051968 positive regulation of sy
naptic transmission, glut
amatergic
IEA biological_process
GO:0060041 retina development in cam
era-type eye
IEA biological_process
GO:0060175 brain-derived neurotrophi
c factor-activated recept
or activity
IMP molecular_function
GO:0060291 long-term synaptic potent
iation
IEA biological_process
GO:0071230 cellular response to amin
o acid stimulus
IEA biological_process
GO:0071356 cellular response to tumo
r necrosis factor
IEA biological_process
GO:1990416 cellular response to brai
n-derived neurotrophic fa
ctor stimulus
IEA biological_process
GO:2000811 negative regulation of an
oikis
IEA biological_process
GO:0000166 nucleotide binding
IEA molecular_function
GO:0001570 vasculogenesis
IEA biological_process
GO:0001764 neuron migration
IEA biological_process
GO:0001764 neuron migration
ISS biological_process
GO:0001934 positive regulation of pr
otein phosphorylation
TAS biological_process
GO:0004672 protein kinase activity
IEA molecular_function
GO:0004713 protein tyrosine kinase a
ctivity
IEA molecular_function
GO:0004713 protein tyrosine kinase a
ctivity
IEA molecular_function
GO:0004714 transmembrane receptor pr
otein tyrosine kinase act
ivity
IEA molecular_function
GO:0004714 transmembrane receptor pr
otein tyrosine kinase act
ivity
IEA molecular_function
GO:0004714 transmembrane receptor pr
otein tyrosine kinase act
ivity
IEA molecular_function
GO:0005030 neurotrophin receptor act
ivity
IEA molecular_function
GO:0005030 neurotrophin receptor act
ivity
IEA molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005622 intracellular
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005768 endosome
IEA cellular_component
GO:0005768 endosome
IEA cellular_component
GO:0005791 rough endoplasmic reticul
um
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:0005887 integral component of pla
sma membrane
IEA cellular_component
GO:0005887 integral component of pla
sma membrane
IDA cellular_component
GO:0006468 protein phosphorylation
IEA biological_process
GO:0006954 inflammatory response
IEA biological_process
GO:0007169 transmembrane receptor pr
otein tyrosine kinase sig
naling pathway
IEA biological_process
GO:0007275 multicellular organism de
velopment
IEA biological_process
GO:0007399 nervous system developmen
t
IEA biological_process
GO:0007528 neuromuscular junction de
velopment
IEA biological_process
GO:0007568 aging
IEA biological_process
GO:0007612 learning
IEA biological_process
GO:0007612 learning
ISS biological_process
GO:0007616 long-term memory
IEA biological_process
GO:0007623 circadian rhythm
IEA biological_process
GO:0007631 feeding behavior
IEA biological_process
GO:0008284 positive regulation of ce
ll proliferation
ISS biological_process
GO:0009416 response to light stimulu
s
IEA biological_process
GO:0009986 cell surface
IEA cellular_component
GO:0010008 endosome membrane
IEA cellular_component
GO:0010628 positive regulation of ge
ne expression
IEA biological_process
GO:0010628 positive regulation of ge
ne expression
ISS biological_process
GO:0010976 positive regulation of ne
uron projection developme
nt
IEA biological_process
GO:0010976 positive regulation of ne
uron projection developme
nt
ISS biological_process
GO:0010996 response to auditory stim
ulus
IEA biological_process
GO:0014047 glutamate secretion
IEA biological_process
GO:0014068 positive regulation of ph
osphatidylinositol 3-kina
se signaling
ISS biological_process
GO:0014069 postsynaptic density
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016301 kinase activity
IEA molecular_function
GO:0016310 phosphorylation
IEA biological_process
GO:0016740 transferase activity
IEA molecular_function
GO:0018108 peptidyl-tyrosine phospho
rylation
IEA biological_process
GO:0019222 regulation of metabolic p
rocess
IEA biological_process
GO:0021954 central nervous system ne
uron development
IEA biological_process
GO:0021954 central nervous system ne
uron development
ISS biological_process
GO:0021987 cerebral cortex developme
nt
IEA biological_process
GO:0021987 cerebral cortex developme
nt
ISS biological_process
GO:0030154 cell differentiation
IEA biological_process
GO:0030182 neuron differentiation
IEA biological_process
GO:0030182 neuron differentiation
ISS biological_process
GO:0030424 axon
IEA cellular_component
GO:0030425 dendrite
IEA cellular_component
GO:0030426 growth cone
IEA cellular_component
GO:0030971 receptor tyrosine kinase
binding
IEA molecular_function
GO:0031547 brain-derived neurotrophi
c factor receptor signali
ng pathway
IEA biological_process
GO:0031547 brain-derived neurotrophi
c factor receptor signali
ng pathway
IMP biological_process
GO:0031547 brain-derived neurotrophi
c factor receptor signali
ng pathway
TAS biological_process
GO:0033138 positive regulation of pe
ptidyl-serine phosphoryla
tion
IEA biological_process
GO:0035584 calcium-mediated signalin
g using intracellular cal
cium source
IEA biological_process
GO:0038179 neurotrophin signaling pa
thway
IEA biological_process
GO:0042490 mechanoreceptor different
iation
IEA biological_process
GO:0042803 protein homodimerization
activity
ISS molecular_function
GO:0043025 neuronal cell body
IEA cellular_component
GO:0043087 regulation of GTPase acti
vity
IEA biological_process
GO:0043087 regulation of GTPase acti
vity
ISS biological_process
GO:0043121 neurotrophin binding
IEA molecular_function
GO:0043121 neurotrophin binding
ISS molecular_function
GO:0043121 neurotrophin binding
IDA molecular_function
GO:0043195 terminal bouton
IEA cellular_component
GO:0043197 dendritic spine
IEA cellular_component
GO:0043204 perikaryon
IEA cellular_component
GO:0043235 receptor complex
IDA cellular_component
GO:0043410 positive regulation of MA
PK cascade
ISS biological_process
GO:0043524 negative regulation of ne
uron apoptotic process
ISS biological_process
GO:0043679 axon terminus
IEA cellular_component
GO:0045211 postsynaptic membrane
IEA cellular_component
GO:0046548 retinal rod cell developm
ent
IEA biological_process
GO:0046777 protein autophosphorylati
on
IEA biological_process
GO:0046777 protein autophosphorylati
on
ISS biological_process
GO:0046928 regulation of neurotransm
itter secretion
IEA biological_process
GO:0048403 brain-derived neurotrophi
c factor binding
IEA molecular_function
GO:0048403 brain-derived neurotrophi
c factor binding
ISS molecular_function
GO:0048709 oligodendrocyte different
iation
IEA biological_process
GO:0048786 presynaptic active zone
IEA cellular_component
GO:0048935 peripheral nervous system
neuron development
IEA biological_process
GO:0050772 positive regulation of ax
onogenesis
ISS biological_process
GO:0050773 regulation of dendrite de
velopment
IEA biological_process
GO:0051896 regulation of protein kin
ase B signaling
IEA biological_process
GO:0051965 positive regulation of sy
napse assembly
IEA biological_process
GO:0051968 positive regulation of sy
naptic transmission, glut
amatergic
IEA biological_process
GO:0060041 retina development in cam
era-type eye
IEA biological_process
GO:0060076 excitatory synapse
IEA cellular_component
GO:0060175 brain-derived neurotrophi
c factor-activated recept
or activity
IEA molecular_function
GO:0060175 brain-derived neurotrophi
c factor-activated recept
or activity
IMP molecular_function
GO:0060291 long-term synaptic potent
iation
IEA biological_process
GO:0071230 cellular response to amin
o acid stimulus
IEA biological_process
GO:0071356 cellular response to tumo
r necrosis factor
IEA biological_process
GO:1990090 cellular response to nerv
e growth factor stimulus
IEA biological_process
GO:1990416 cellular response to brai
n-derived neurotrophic fa
ctor stimulus
IEA biological_process
GO:2000811 negative regulation of an
oikis
IEA biological_process
GO:0001764 neuron migration
ISS biological_process
GO:0001934 positive regulation of pr
otein phosphorylation
TAS biological_process
GO:0005887 integral component of pla
sma membrane
IDA cellular_component
GO:0007612 learning
ISS biological_process
GO:0008284 positive regulation of ce
ll proliferation
ISS biological_process
GO:0010628 positive regulation of ge
ne expression
ISS biological_process
GO:0010976 positive regulation of ne
uron projection developme
nt
ISS biological_process
GO:0014068 positive regulation of ph
osphatidylinositol 3-kina
se signaling
ISS biological_process
GO:0021954 central nervous system ne
uron development
ISS biological_process
GO:0021987 cerebral cortex developme
nt
ISS biological_process
GO:0030182 neuron differentiation
ISS biological_process
GO:0031547 brain-derived neurotrophi
c factor receptor signali
ng pathway
IMP biological_process
GO:0031547 brain-derived neurotrophi
c factor receptor signali
ng pathway
TAS biological_process
GO:0042803 protein homodimerization
activity
ISS molecular_function
GO:0043087 regulation of GTPase acti
vity
ISS biological_process
GO:0043121 neurotrophin binding
ISS molecular_function
GO:0043121 neurotrophin binding
IDA molecular_function
GO:0043235 receptor complex
IDA cellular_component
GO:0043410 positive regulation of MA
PK cascade
ISS biological_process
GO:0043524 negative regulation of ne
uron apoptotic process
ISS biological_process
GO:0046777 protein autophosphorylati
on
ISS biological_process
GO:0048403 brain-derived neurotrophi
c factor binding
ISS molecular_function
GO:0050772 positive regulation of ax
onogenesis
ISS biological_process
GO:0060175 brain-derived neurotrophi
c factor-activated recept
or activity
IMP molecular_function

KEGG pathways

hsa04010  MAPK signaling pathway
hsa04722  Neurotrophin signaling pathway
hsa05034  Alcoholism

Diseases

Associated diseases References
Adenomyosis PMID: 21079983
Alzheimer's disease PMID: 18780967
Anorexia nervosa PMID: 15838534
Attention-deficit hyperactivity disorder (ADHD) PMID: 18428117
Autism PMID: 19598235
Bipolar disorder PMID: 19018715
Depression PMID: 15389758
Endometriosis PMID: 17873329
Epilepsy PMID: 20522523
Neuroblastoma KEGG: H00043
Obesity OMIM: 600456
Endometriosis INFBASE15299092
Psychiatric disorders PMID: 19086053

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
15299092 Endometrio
sis


PDGFRA
PKC beta1
JAK1
Sprouty2
MKK7
COUP-TF2
PGE2EP
Show abstract
17873329 Endometrio
sis

67 (28 women wi
th endometriosi
s, 39 controls)
TrkB
Show abstract