Gene Gene information from NCBI Gene database.
Entrez ID 7852
Gene name C-X-C motif chemokine receptor 4
Gene symbol CXCR4
Synonyms (NCBI Gene)
CD184D2S201EFB22HM89HSY3RRLAP-3LAP3LCR1LESTRNPY3RNPYRNPYRLNPYY3RWHIMWHIMSWHIMS1
Chromosome 2
Chromosome location 2q22.1
Summary 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.
73
miRTarBase ID miRNA Experiments Reference
MIRT000006 hsa-miR-146a-5p qRT-PCRLuciferase reporter assayWestern blot 18568019
MIRT000006 hsa-miR-146a-5p qRT-PCRLuciferase reporter assayWestern blot 18568019
MIRT000006 hsa-miR-146a-5p qRT-PCRLuciferase reporter assayWestern blot 18568019
MIRT000006 hsa-miR-146a-5p Luciferase reporter assayqRT-PCRWestern blot 18568019
MIRT000006 hsa-miR-146a-5p Luciferase reporter assayqRT-PCRWestern blot 18568019
Transcription factors Transcription factors information provided by TRRUST V2 database.
27
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
77
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
162643 2561 ENSG00000121966
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Inherited Immunodeficiency Diseases Likely pathogenic; Pathogenic rs1573613529 RCV001027567
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm Pathogenic rs1684842255 RCV006274177
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Warts, hypogammaglobulinemia, infections, and myelokathexis Pathogenic; Likely pathogenic rs1684840786, rs2104915680, rs2104915518, rs2104915668, rs2104915548, rs2104915575, rs2104915487, rs104893624, rs730880320, rs104893626, rs1240625960, rs1684841455, rs1684842255 RCV001339385
RCV001378387
RCV001987089
RCV001917510
RCV001927193
View all (8 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
WHIM syndrome 1 Pathogenic; Likely pathogenic rs1684840786, rs2104915543, rs104893626, rs104893624, rs730880320, rs104893625, rs1573613529 RCV001801249
RCV005420416
RCV002249021
RCV001801237
RCV001801238
View all (3 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ARTHRITIS, JUVENILE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CXCR4-related disorder Likely benign; Uncertain significance; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
22q11 Deletion Syndrome 22q11 deletion syndrome BEFREE 24101523
★☆☆☆☆
Found in Text Mining only
Achondroplasia Achondroplasia Pubtator 28729430 Associate
★☆☆☆☆
Found in Text Mining only
Acoustic Neuroma Acoustic Neuroma BEFREE 29515781, 31245296, 31620068
★☆☆☆☆
Found in Text Mining only
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 15781337
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 12472574, 29777009, 30365110
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 10803521, 12472574, 16236608, 16679918, 23294096, 23754844, 25072364, 27686375, 30453100, 31346528, 31809874
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 18955566, 20035824, 25294819, 27135782, 28280274, 30127892, 30204524, 30228947
★☆☆☆☆
Found in Text Mining only
Acute myelomonocytic leukemia Myelomonocytic Leukemia BEFREE 31518054
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 28755135
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 19291801, 30335884
★☆☆☆☆
Found in Text Mining only