Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7852
Gene name Gene Name - the full gene name approved by the HGNC.
C-X-C motif chemokine receptor 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CXCR4
Synonyms (NCBI Gene) Gene synonyms aliases
CD184, D2S201E, FB22, HM89, HSY3RR, LAP-3, LAP3, LCR1, LESTR, NPY3R, NPYR, NPYRL, NPYY3R, WHIM, WHIMS, WHIMS1
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000006 hsa-miR-146a-5p qRT-PCR, Luciferase reporter assay, Western blot 18568019
MIRT000006 hsa-miR-146a-5p qRT-PCR, Luciferase reporter assay, Western blot 18568019
MIRT000006 hsa-miR-146a-5p qRT-PCR, Luciferase reporter assay, Western blot 18568019
MIRT000006 hsa-miR-146a-5p Luciferase reporter assay, qRT-PCR, Western blot 18568019
MIRT000006 hsa-miR-146a-5p Luciferase reporter assay, qRT-PCR, Western blot 18568019
Transcription factors
Transcription factor Regulation Reference
CREB1 Unknown 11874984
CREB3 Activation 20473547
DNMT1 Repression 19932585
ERG Activation 19396168;23918819
ETS1 Unknown 21741415
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001618 Function Virus receptor activity IEA
GO:0001618 Function Virus receptor activity TAS 10228019
GO:0001666 Process Response to hypoxia IEP 15174142
GO:0002407 Process Dendritic cell chemotaxis TAS 16621978
GO:0003779 Function Actin binding IDA 12421915
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
162643 2561 ENSG00000121966
Protein
UniProt ID P61073
Protein 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
Protein function Receptor for the C-X-C chemokine CXCL12/SDF-1 that transduces a signal by increasing intracellular calcium ion levels and enhancing MAPK1/MAPK3 activation (PubMed:10452968, PubMed:18799424, PubMed:24912431, PubMed:28978524). Involved in the AKT
PDB 2K03 , 2K04 , 2K05 , 2N55 , 3ODU , 3OE0 , 3OE6 , 3OE8 , 3OE9 , 4RWS , 8GP3 , 8I0Q , 8K3Z , 8U4N , 8U4O , 8U4P , 8U4Q , 8U4R , 8U4S , 8U4T , 8YU7 , 8ZPL , 8ZPM , 8ZPN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12109 CXCR4_N 6 38 CXCR4 Chemokine receptor N terminal Domain
PF00001 7tm_1 55 302 7 transmembrane receptor (rhodopsin family) Family
Tissue specificity 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
Sequence length 352
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Viral life cycle - HIV-1
Virion - Human immunodeficiency virus
Calcium signaling pathway
Cytokine-cytokine receptor interaction
Viral protein interaction with cytokine and cytokine receptor
Chemokine signaling pathway
Endocytosis
Axon guidance
Leukocyte transendothelial migration
Intestinal immune network for IgA production
Regulation of actin cytoskeleton
Human cytomegalovirus infection
Human immunodeficiency virus 1 infection
Pathways in cancer
  Binding and entry of HIV virion
Signaling by ROBO receptors
Chemokine receptors bind chemokines
G alpha (i) signalling events
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Immunodeficiency Inherited Immunodeficiency Diseases rs1573613529 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Triple-negative breast cancer The knockout of the CXCR4 and CXCR7 genes affects the binding capacity and functions of CXCL12, inhibits the malignant progression of TNBC cells significantly, and may become a potential target for the treatment of TNBC. 31190884 CBGDA
Multiple Sclerosis Multiple sclerosis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Achalasia Addisonianism Alacrimia syndrome Stimulate 36519232
Achondroplasia Associate 28729430
Acquired Immunodeficiency Syndrome Associate 10364306, 12500303, 14645592, 16877302, 17251288, 17360650, 19058828, 22845664, 22962615, 23133358, 23617327, 24750723, 26083631, 37939456, 9226150
ACTH Secreting Pituitary Adenoma Stimulate 18698020
Acute Disease Associate 36536281
Acute Kidney Injury Associate 34826532
Acute Lung Injury Associate 29566745
Adenocarcinoma Associate 17082613, 17176471, 17504381
Adenocarcinoma of Lung Associate 17082613, 19258077, 26338423, 33637678, 36308553, 38204755
Adenocarcinoma of Lung Inhibit 35768814