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A repository for genes associated with endometriosis

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Gene id 7852
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol CXCR4   Gene   UCSC   Ensembl
Aliases CD184, D2S201E, FB22, HM89, HSY3RR, LAP-3, LAP3, LCR1, LESTR, NPY3R, NPYR, NPYRL, NPYY3R, WHIM, WHIMS
Gene name C-X-C motif chemokine receptor 4
Alternate names C-X-C chemokine receptor type 4, CD184 antigen, LPS-associated protein 3, SDF-1 receptor, chemokine (C-X-C motif) receptor 4, chemokine receptor, fusin, leukocyte-derived seven transmembrane domain receptor, lipopolysaccharide-associated protein 3, neuropeptide Y ,
Gene location 2q22.1 (136118154: 136114348)     Exons: 2     NC_000002.12
Gene summary(Entrez) This gene encodes a CXC chemokine receptor specific for stromal cell-derived factor-1. The protein has 7 transmembrane regions and is located on the cell surface. It acts with the CD4 protein to support HIV entry into cells and is also highly expressed in breast cancer cells. Mutations in this gene have been associated with WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
OMIM 162643

Protein Summary

Protein general information P61073  

Name: C X C chemokine receptor type 4 (CXC R4) (CXCR 4) (FB22) (Fusin) (HM89) (LCR1) (Leukocyte derived seven transmembrane domain receptor) (LESTR) (Lipopolysaccharide associated protein 3) (LAP 3) (LPS associated protein 3) (NPYRL) (Stromal cell derived facto

Length: 352  Mass: 39,746

Tissue specificity: Expressed in numerous tissues, such as peripheral blood leukocytes, spleen, thymus, spinal cord, heart, placenta, lung, liver, skeletal muscle, kidney, pancreas, cerebellum, cerebral cortex and medulla (in microglia as well as in astro

Sequence MEGISIYTSDNYTEEMGSGDYDSMKEPCFREENANFNKIFLPTIYSIIFLTGIVGNGLVILVMGYQKKLRSMTDK
YRLHLSVADLLFVITLPFWAVDAVANWYFGNFLCKAVHVIYTVNLYSSVLILAFISLDRYLAIVHATNSQRPRKL
LAEKVVYVGVWIPALLLTIPDFIFANVSEADDRYICDRFYPNDLWVVVFQFQHIMVGLILPGIVILSCYCIIISK
LSHSKGHQKRKALKTTVILILAFFACWLPYYIGISIDSFILLEIIKQGCEFENTVHKWISITEALAFFHCCLNPI
LYAFLGAKFKTSAQHALTSVSRGSSLKILSKGKRGGHSSVSTESESSSFHSS
Structural information

Motifs
Important for(133-135)
Interpro:  IPR022726 IPR000355 IPR001277 IPR000276 IPR017452
Prosite:   PS00237 PS50262

Pfam:  
PF00001 PF12109

PDB:  
2K03 2K04 2K05 2N55 3ODU 3OE0 3OE6 3OE8 3OE9 4RWS
PDBsum:   2K03 2K04 2K05 2N55 3ODU 3OE0 3OE6 3OE8 3OE9 4RWS

DIP:  
34773 46290
MINT:   6630550
STRING:   ENSP00000386884;
Other Databases GeneCards:  CXCR4;  Malacards:  CXCR4

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000187 activation of MAPK activi
ty
TAS biological_process
GO:0001618 virus receptor activity
IEA molecular_function
GO:0001666 response to hypoxia
IEP biological_process
GO:0001764 neuron migration
IEA biological_process
GO:0002064 epithelial cell developme
nt
IEA biological_process
GO:0002407 dendritic cell chemotaxis
TAS biological_process
GO:0003779 actin binding
IDA molecular_function
GO:0004930 G-protein coupled recepto
r activity
TAS 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: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:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005737 cytoplasm
TAS cellular_component
GO:0005764 lysosome
IDA cellular_component
GO:0005769 early endosome
IDA cellular_component
GO:0005770 late endosome
IDA 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: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:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0006915 apoptotic process
TAS biological_process
GO:0006954 inflammatory response
TAS biological_process
GO:0007186 G-protein coupled recepto
r signaling pathway
IDA biological_process
GO:0007204 positive regulation of cy
tosolic calcium ion conce
ntration
TAS biological_process
GO:0008038 neuron recognition
IEA biological_process
GO:0008144 drug binding
IEA molecular_function
GO:0009615 response to virus
TAS biological_process
GO:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0015026 coreceptor activity
TAS molecular_function
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016494 C-X-C chemokine receptor
activity
NAS molecular_function
GO:0019064 fusion of virus membrane
with host plasma membrane
TAS biological_process
GO:0019722 calcium-mediated signalin
g
IMP biological_process
GO:0019955 cytokine binding
IEA molecular_function
GO:0022029 telencephalon cell migrat
ion
IEA biological_process
GO:0030054 cell junction
IEA cellular_component
GO:0030260 entry into host cell
TAS biological_process
GO:0030334 regulation of cell migrat
ion
IEA biological_process
GO:0031252 cell leading edge
IDA cellular_component
GO:0031410 cytoplasmic vesicle
IDA cellular_component
GO:0031625 ubiquitin protein ligase
binding
IPI molecular_function
GO:0032027 myosin light chain bindin
g
IDA molecular_function
GO:0043067 regulation of programmed
cell death
IEA biological_process
GO:0043130 ubiquitin binding
IDA molecular_function
GO:0043217 myelin maintenance
ISS biological_process
GO:0048714 positive regulation of ol
igodendrocyte differentia
tion
ISS biological_process
GO:0050920 regulation of chemotaxis
IMP biological_process
GO:0051924 regulation of calcium ion
transport
IEA biological_process
GO:0060048 cardiac muscle contractio
n
IEA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070098 chemokine-mediated signal
ing pathway
IEA biological_process
GO:0071345 cellular response to cyto
kine stimulus
IDA biological_process
GO:0000187 activation of MAPK activi
ty
TAS biological_process
GO:0001618 virus receptor activity
IEA molecular_function
GO:0001666 response to hypoxia
IEP biological_process
GO:0001764 neuron migration
IEA biological_process
GO:0002064 epithelial cell developme
nt
IEA biological_process
GO:0002407 dendritic cell chemotaxis
TAS biological_process
GO:0003779 actin binding
IDA molecular_function
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
TAS molecular_function
GO:0004950 chemokine receptor activi
ty
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: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:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005737 cytoplasm
TAS cellular_component
GO:0005764 lysosome
IEA cellular_component
GO:0005764 lysosome
IEA cellular_component
GO:0005764 lysosome
IDA cellular_component
GO:0005768 endosome
IEA cellular_component
GO:0005768 endosome
IEA cellular_component
GO:0005769 early endosome
IEA cellular_component
GO:0005769 early endosome
IDA cellular_component
GO:0005770 late endosome
IEA cellular_component
GO:0005770 late endosome
IDA 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
TAS 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: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:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0006915 apoptotic process
TAS biological_process
GO:0006935 chemotaxis
IEA biological_process
GO:0006954 inflammatory response
TAS 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
IDA biological_process
GO:0007204 positive regulation of cy
tosolic calcium ion conce
ntration
TAS biological_process
GO:0008038 neuron recognition
IEA biological_process
GO:0008144 drug binding
IEA molecular_function
GO:0009615 response to virus
TAS biological_process
GO:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0015026 coreceptor activity
TAS molecular_function
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:0016032 viral process
IEA biological_process
GO:0016477 cell migration
IEA biological_process
GO:0016494 C-X-C chemokine receptor
activity
IEA molecular_function
GO:0016494 C-X-C chemokine receptor
activity
IEA molecular_function
GO:0016494 C-X-C chemokine receptor
activity
NAS molecular_function
GO:0019064 fusion of virus membrane
with host plasma membrane
TAS biological_process
GO:0019722 calcium-mediated signalin
g
IMP biological_process
GO:0019955 cytokine binding
IEA molecular_function
GO:0022029 telencephalon cell migrat
ion
IEA biological_process
GO:0030054 cell junction
IEA cellular_component
GO:0030054 cell junction
IEA cellular_component
GO:0030260 entry into host cell
TAS biological_process
GO:0030334 regulation of cell migrat
ion
IEA biological_process
GO:0031252 cell leading edge
IDA cellular_component
GO:0031410 cytoplasmic vesicle
IDA cellular_component
GO:0031625 ubiquitin protein ligase
binding
IPI molecular_function
GO:0032027 myosin light chain bindin
g
IDA molecular_function
GO:0043067 regulation of programmed
cell death
IEA biological_process
GO:0043130 ubiquitin binding
IEA molecular_function
GO:0043130 ubiquitin binding
IDA molecular_function
GO:0043217 myelin maintenance
ISS biological_process
GO:0048714 positive regulation of ol
igodendrocyte differentia
tion
ISS biological_process
GO:0050920 regulation of chemotaxis
IEA biological_process
GO:0050920 regulation of chemotaxis
IMP biological_process
GO:0051924 regulation of calcium ion
transport
IEA biological_process
GO:0060048 cardiac muscle contractio
n
IEA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070098 chemokine-mediated signal
ing pathway
IEA biological_process
GO:0071345 cellular response to cyto
kine stimulus
IDA biological_process
GO:0000187 activation of MAPK activi
ty
TAS biological_process
GO:0001666 response to hypoxia
IEP biological_process
GO:0002407 dendritic cell chemotaxis
TAS biological_process
GO:0003779 actin binding
IDA molecular_function
GO:0004930 G-protein coupled recepto
r activity
TAS 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: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:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005737 cytoplasm
TAS cellular_component
GO:0005764 lysosome
IDA cellular_component
GO:0005769 early endosome
IDA cellular_component
GO:0005770 late endosome
IDA cellular_component
GO:0005886 plasma membrane
TAS 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: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:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0006915 apoptotic process
TAS biological_process
GO:0006954 inflammatory response
TAS biological_process
GO:0007186 G-protein coupled recepto
r signaling pathway
IDA biological_process
GO:0007204 positive regulation of cy
tosolic calcium ion conce
ntration
TAS biological_process
GO:0009615 response to virus
TAS biological_process
GO:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0015026 coreceptor activity
TAS molecular_function
GO:0016494 C-X-C chemokine receptor
activity
NAS molecular_function
GO:0019064 fusion of virus membrane
with host plasma membrane
TAS biological_process
GO:0019722 calcium-mediated signalin
g
IMP biological_process
GO:0030260 entry into host cell
TAS biological_process
GO:0031252 cell leading edge
IDA cellular_component
GO:0031410 cytoplasmic vesicle
IDA cellular_component
GO:0031625 ubiquitin protein ligase
binding
IPI molecular_function
GO:0032027 myosin light chain bindin
g
IDA molecular_function
GO:0043130 ubiquitin binding
IDA molecular_function
GO:0043217 myelin maintenance
ISS biological_process
GO:0048714 positive regulation of ol
igodendrocyte differentia
tion
ISS biological_process
GO:0050920 regulation of chemotaxis
IMP biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0071345 cellular response to cyto
kine stimulus
IDA biological_process

KEGG pathways

hsa05200  Pathways in cancer
hsa04060  Cytokine-cytokine receptor interaction
hsa04062  Chemokine signaling pathway
hsa04144  Endocytosis
hsa04360  Axon guidance
hsa04670  Leukocyte transendothelial migration
hsa04672  Intestinal immune network for IgA production
PTHR10489:SF594  Axon guidance mediated by Slit/Robo
PTHR10489:SF594  Axon guidance mediated by Slit/Robo

Diseases

Associated diseases References
Asthma PMID: 15787642
Cancer PMID: 18636124
Celiac disease PMID: 19240061
Coronary disease PMID: 19336475
Diabetes PMID: 18461161
Endometriosis PMID: 24534089
Implantation failure PMID: 18077318
Multiple sclerosis PMID: 19879194
Ovarian endometriosis PMID: 15005245
Endometriosis INFBASE20720261
Ovarian endometriosis INFBASE15005245

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
24534089 Endometrio
sis

26 (14 patients
undergoing sur
gical treatment
for DIE with l
ow rectal invol
vemen, 12 patie
nts without mac
roscopic endome
triosis undergo
ing laparoscopy
)
CXCL12
CXCR4
Show abstract
23670619 Endometrio
sis

18 ( 9 eutopic
endometrial cel
ls collected fr
om females with
endometriosis,
9 eutopic endo
metrial cells c
ollected from f
emales without
endometriosis)
Female infertility CXCR4
SOX2
MET
CRMP2
Oct4
Show abstract
23639674 Endometrio
sis

32 (13 endometr
iosis lesions,
11 isolated end
ometriotic-like
cells (IELC)-p
ositive pelvic
sentinel lymph
nodes (PSLN), 8
ELC-negative P
SLN))
EPCAM
CDH1 (E-cadherin)
CXCR4
CD44
Show abstract
20720261 Endometrio
sis


CXCR4
CXCL12
Show abstract
15005245 Endometrio
sis (ovari
an)


FCER1G
PGDS
IL-8
GRO1
GRO2
CXCR4
MCP1
MMP
COL4A2
and COL5A2
Show abstract