Gene Gene information from NCBI Gene database.
Entrez ID 1524
Gene name C-X3-C motif chemokine receptor 1
Gene symbol CX3CR1
Synonyms (NCBI Gene)
CCRL1CMKBRL1CMKDR1GPR13GPRV28V28
Chromosome 3
Chromosome location 3p22.2
Summary Fractalkine is a transmembrane protein and chemokine involved in the adhesion and migration of leukocytes. The protein encoded by this gene is a receptor for fractalkine. The encoded protein also is a coreceptor for HIV-1, and some variations in this gene
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs3732378 G>A Protective, risk-factor, pathogenic Coding sequence variant, missense variant
rs3732379 C>T Protective, risk-factor, pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
21
miRTarBase ID miRNA Experiments Reference
MIRT917546 hsa-miR-1207-5p CLIP-seq
MIRT917547 hsa-miR-1236 CLIP-seq
MIRT917548 hsa-miR-127-5p CLIP-seq
MIRT917549 hsa-miR-204 CLIP-seq
MIRT917550 hsa-miR-211 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
109
GO ID Ontology Definition Evidence Reference
GO:0002052 Process Positive regulation of neuroblast proliferation ISS
GO:0002250 Process Adaptive immune response IEA
GO:0002250 Process Adaptive immune response ISS
GO:0002282 Process Microglial cell activation involved in immune response IEA
GO:0002282 Process Microglial cell activation involved in immune response ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601470 2558 ENSG00000168329
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P49238
Protein name CX3C chemokine receptor 1 (C-X3-C CKR-1) (CX3CR1) (Beta chemokine receptor-like 1) (CMK-BRL-1) (CMK-BRL1) (Fractalkine receptor) (G-protein coupled receptor 13) (V28)
Protein function Receptor for the C-X3-C chemokine fractalkine (CX3CL1) present on many early leukocyte cells; CX3CR1-CX3CL1 signaling exerts distinct functions in different tissue compartments, such as immune response, inflammation, cell adhesion and chemotaxis
PDB 7XBW , 7XBX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00001 7tm_1 48 293 7 transmembrane receptor (rhodopsin family) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in lymphoid and neural tissues (PubMed:7590284). Expressed in lymphocyte subsets, such as natural killer (NK) cells, gamma-delta T-cells and terminally differentiated CD8(+) T-cells (PubMed:12055230). Expressed in smooth musc
Sequence
Sequence length 355
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cytokine-cytokine receptor interaction
Viral protein interaction with cytokine and cytokine receptor
Chemokine signaling pathway
Efferocytosis
  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.).
16
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)
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
Age related macular degeneration 12 Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHLORACNE CTD, Disgenet
CTD, Disgenet
★★☆☆☆
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
Acute Coronary Syndrome Coronary Syndrome BEFREE 12697743, 15886814, 30381070
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome LHGDN 15886814
★☆☆☆☆
Found in Text Mining only
Acute otitis media Otitis media BEFREE 24718616
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 18974152
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 26633537
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 23857671
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyps Adenomatous Polyposis BEFREE 28619710
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 34220331 Associate
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 17900259
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia LHGDN 17900259
★☆☆☆☆
Found in Text Mining only