ENSG00000121966


Homo sapiens

Features
Gene ID: ENSG00000121966
  
Biological name :CXCR4
  
Synonyms : C-X-C motif chemokine receptor 4 / CXCR4 / P61073
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: q22.1
Gene start: 136114349
Gene end: 136118165
  
Corresponding Affymetrix probe sets: 209201_x_at (Human Genome U133 Plus 2.0 Array)   211919_s_at (Human Genome U133 Plus 2.0 Array)   217028_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000241393
Ensembl peptide - ENSP00000386884
NCBI entrez gene - 7852     See in Manteia.
OMIM - 162643
RefSeq - NM_001008540
RefSeq - NM_003467
RefSeq Peptide - NP_001008540
RefSeq Peptide - NP_003458
swissprot - P61073
Ensembl - ENSG00000121966
  
Related genetic diseases (OMIM): 162643 - Myelokathexis, isolated
  193670 - WHIM syndrome, 193670
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cxcr4aENSDARG00000057633Danio rerio
 cxcr4bENSDARG00000041959Danio rerio
 CXCR4ENSGALG00000012357Gallus gallus
 Cxcr4ENSMUSG00000045382Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CXCR1 / P25024 / C-X-C motif chemokine receptor 1ENSG0000016346434
CCR4 / P51679 / C-C motif chemokine receptor 4ENSG0000018381334
CXCR3 / P49682 / C-X-C motif chemokine receptor 3ENSG0000018681033
CXCR2 / P25025 / C-X-C motif chemokine receptor 2ENSG0000018087133
CCR7 / P32248 / C-C motif chemokine receptor 7ENSG0000012635332
CCR9 / P51686 / C-C motif chemokine receptor 9ENSG0000017358532
CXCR5 / P32302 / C-X-C motif chemokine receptor 5ENSG0000016068331
ACKR4 / Q9NPB9 / atypical chemokine receptor 4ENSG0000012904831
CCR6 / P51684 / C-C motif chemokine receptor 6ENSG0000011248631
CX3CR1 / P49238 / C-X3-C motif chemokine receptor 1ENSG0000016832930
ACKR2 / O00590 / atypical chemokine receptor 2ENSG0000014464830
CCR8 / P51685 / C-C motif chemokine receptor 8ENSG0000017993430
CCR5 / P51681 / C-C motif chemokine receptor 5 (gene/pseudogene)ENSG0000016079129
CCR2 / P41597 / C-C motif chemokine receptor 2ENSG0000012180729
CXCR6 / O00574 / C-X-C motif chemokine receptor 6ENSG0000017221529
CCR1 / P32246 / C-C motif chemokine receptor 1ENSG0000016382329
CCR3 / P51677 / C-C motif chemokine receptor 3ENSG0000018362528
XCR1 / P46094 / X-C motif chemokine receptor 1ENSG0000017357828
CCR10 / P46092 / C-C motif chemokine receptor 10ENSG0000018445128


Protein motifs (from Interpro)
Interpro ID Name
 IPR000276  G protein-coupled receptor, rhodopsin-like
 IPR000355  Chemokine receptor family
 IPR001277  CXC chemokine receptor 4/atypical chemokine receptor 2
 IPR017452  GPCR, rhodopsin-like, 7TM
 IPR022726  CXC chemokine receptor 4 N-terminal domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000187 activation of MAPK activity TAS
 biological_processGO:0001666 response to hypoxia IEP
 biological_processGO:0002407 dendritic cell chemotaxis TAS
 biological_processGO:0006915 apoptotic process TAS
 biological_processGO:0006935 chemotaxis IEA
 biological_processGO:0006954 inflammatory response TAS
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007186 G-protein coupled receptor signaling pathway TAS
 biological_processGO:0007204 positive regulation of cytosolic calcium ion concentration TAS
 biological_processGO:0007411 axon guidance TAS
 biological_processGO:0009615 response to virus TAS
 biological_processGO:0016032 viral process IEA
 biological_processGO:0019064 fusion of virus membrane with host plasma membrane TAS
 biological_processGO:0019722 calcium-mediated signaling IMP
 biological_processGO:0030260 entry into host cell TAS
 biological_processGO:0043217 myelin maintenance ISS
 biological_processGO:0048714 positive regulation of oligodendrocyte differentiation ISS
 biological_processGO:0050920 regulation of chemotaxis IMP
 biological_processGO:0070098 chemokine-mediated signaling pathway IEA
 biological_processGO:0071345 cellular response to cytokine stimulus IDA
 cellular_componentGO:0005737 cytoplasm TAS
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005769 early endosome IEA
 cellular_componentGO:0005770 late endosome IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0031252 cell leading edge IDA
 cellular_componentGO:0031410 cytoplasmic vesicle IDA
 cellular_componentGO:0032991 protein-containing complex IMP
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0001618 virus receptor activity IEA
 molecular_functionGO:0003779 actin binding IDA
 molecular_functionGO:0004871 obsolete signal transducer activity IEA
 molecular_functionGO:0004930 G-protein coupled receptor activity TAS
 molecular_functionGO:0004950 chemokine receptor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0015026 coreceptor activity TAS
 molecular_functionGO:0016494 C-X-C chemokine receptor activity NAS
 molecular_functionGO:0019955 cytokine binding IEA
 molecular_functionGO:0019957 C-C chemokine binding IPI
 molecular_functionGO:0031625 ubiquitin protein ligase binding IPI
 molecular_functionGO:0032027 myosin light chain binding IDA
 molecular_functionGO:0043130 ubiquitin binding IDA


Pathways (from Reactome)
Pathway description
Binding and entry of HIV virion
Signaling by ROBO receptors
Chemokine receptors bind chemokines
G alpha (i) signalling events


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000008 Abnormality of female internal genitalia 
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 HP:0000055 Abnormality of female external genitalia 
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 HP:0001875 Neutropenia 
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 HP:0002110 Bronchiectasis 
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 HP:0002718 Recurrent bacterial infections 
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 HP:0002788 Recurrent upper respiratory tract infections 
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 HP:0003593 Early onset 
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 HP:0004313 Reduced immunoglobulin levels 
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 HP:0004315 Decreased IgG level "An abnormally decreased level of immunoglobulin G in blood." [HPO:probinson]
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 HP:0005561 Generalized abnormality of the bone marrow 
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 HP:0031020 Bone marrow hypercellularity "A larger than normal amount or percentage of hematopoietic cells relative to marrow fat." []
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 HP:0031160 Myelokathexis "Impaired egress of mature neutrophils from bone marrow causing neutropenia." [PMID:10607719, PMID:25662009]
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 HP:0200043 verrucae "Benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas." [HPO:SKOEHLER]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000169855 ROBO1 / Q9Y6N7 / roundabout guidance receptor 1  / complex / reaction
 ENSG00000145147 SLIT2 / O94813 / slit guidance ligand 2  / complex / reaction
 ENSG00000010610 CD4 / P01730 / CD4 molecule  / complex
 ENSG00000107562 CXCL12 / P48061 / C-X-C motif chemokine ligand 12  / reaction / complex






 

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