Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

Show/Hide all (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

Show/Hide all (21)

miRTarBase ID	miRNA	Experiments
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
MIRT917551	hsa-miR-3155	CLIP-seq
MIRT917552	hsa-miR-3155b	CLIP-seq
MIRT917553	hsa-miR-3163	CLIP-seq
MIRT917554	hsa-miR-3168	CLIP-seq
MIRT917555	hsa-miR-3924	CLIP-seq
MIRT917556	hsa-miR-4446-5p	CLIP-seq
MIRT917557	hsa-miR-4496	CLIP-seq
MIRT917558	hsa-miR-4639-5p	CLIP-seq
MIRT917559	hsa-miR-4738-3p	CLIP-seq
MIRT917560	hsa-miR-4755-5p	CLIP-seq
MIRT917561	hsa-miR-4763-3p	CLIP-seq
MIRT917562	hsa-miR-484	CLIP-seq
MIRT917563	hsa-miR-623	CLIP-seq
MIRT2465153	hsa-miR-3125	CLIP-seq
MIRT2465154	hsa-miR-3916	CLIP-seq
MIRT2465155	hsa-miR-570	CLIP-seq

109

Show/Hide all (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
GO:0002376	Process	Immune system process	IEA
GO:0002931	Process	Response to ischemia	ISS
GO:0004896	Function	Cytokine receptor activity	IEA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004930	Function	G protein-coupled receptor activity	ISS
GO:0004950	Function	Chemokine receptor activity	TAS	10754298
GO:0005515	Function	Protein binding	IPI	9931005, 32296183
GO:0005886	Component	Plasma membrane	IDA	12055230
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9390561
GO:0006935	Process	Chemotaxis	IEA
GO:0006935	Process	Chemotaxis	IGI	16019082
GO:0006935	Process	Chemotaxis	TAS	10754298
GO:0006954	Process	Inflammatory response	IEA
GO:0006955	Process	Immune response	IBA
GO:0006955	Process	Immune response	IEA
GO:0006955	Process	Immune response	ISS
GO:0006968	Process	Cellular defense response	TAS	10754298
GO:0007155	Process	Cell adhesion	IDA	9782118
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	ISS
GO:0007155	Process	Cell adhesion	TAS	10754298
GO:0007165	Process	Signal transduction	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	10754298
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IEA
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	ISS
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IBA
GO:0007267	Process	Cell-cell signaling	TAS	24352739
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	ISS
GO:0008528	Function	G protein-coupled peptide receptor activity	TAS	24352739
GO:0009611	Process	Response to wounding	TAS	10754298
GO:0009897	Component	External side of plasma membrane	IBA
GO:0009986	Component	Cell surface	IDA	28791023
GO:0009986	Component	Cell surface	IEA
GO:0009986	Component	Cell surface	ISS	10415068
GO:0009986	Component	Cell surface	TAS	24352739
GO:0016020	Component	Membrane	IEA
GO:0016493	Function	C-C chemokine receptor activity	IBA
GO:0016495	Function	C-X3-C chemokine receptor activity	IDA	9782118, 12055230
GO:0016495	Function	C-X3-C chemokine receptor activity	IEA
GO:0016525	Process	Negative regulation of angiogenesis	IEA
GO:0019221	Process	Cytokine-mediated signaling pathway	IEA
GO:0019722	Process	Calcium-mediated signaling	IBA
GO:0019957	Function	C-C chemokine binding	IBA
GO:0019960	Function	C-X3-C chemokine binding	IDA	23125415
GO:0019960	Function	C-X3-C chemokine binding	IEA
GO:0019960	Function	C-X3-C chemokine binding	ISS
GO:0021626	Process	Central nervous system maturation	IEA
GO:0021626	Process	Central nervous system maturation	ISS
GO:0030595	Process	Leukocyte chemotaxis	IEA
GO:0030595	Process	Leukocyte chemotaxis	ISS
GO:0031737	Function	CX3C chemokine receptor binding	IDA	9782118
GO:0032680	Process	Regulation of tumor necrosis factor production	IEA
GO:0032680	Process	Regulation of tumor necrosis factor production	ISS
GO:0032691	Process	Negative regulation of interleukin-1 beta production	ISS
GO:0032809	Component	Neuronal cell body membrane	ISS
GO:0035176	Process	Social behavior	IEA
GO:0035176	Process	Social behavior	ISS
GO:0035425	Process	Autocrine signaling	ISS
GO:0043005	Component	Neuron projection	ISS
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	ISS
GO:0045087	Process	Innate immune response	IC	23499256
GO:0045087	Process	Innate immune response	IEA
GO:0045428	Process	Regulation of nitric oxide biosynthetic process	IEA
GO:0045428	Process	Regulation of nitric oxide biosynthetic process	ISS
GO:0048167	Process	Regulation of synaptic plasticity	TAS	24352739
GO:0048471	Component	Perinuclear region of cytoplasm	ISS
GO:0048874	Process	Host-mediated modulation of intestinal microbiota composition	IEA
GO:0048874	Process	Host-mediated modulation of intestinal microbiota composition	ISS
GO:0050767	Process	Regulation of neurogenesis	TAS	24352739
GO:0050769	Process	Positive regulation of neurogenesis	IEA
GO:0050769	Process	Positive regulation of neurogenesis	ISS
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	ISS
GO:0050901	Process	Leukocyte tethering or rolling	IEA
GO:0050901	Process	Leukocyte tethering or rolling	ISS
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS
GO:0060074	Process	Synapse maturation	IEA
GO:0060074	Process	Synapse maturation	ISS
GO:0060326	Process	Cell chemotaxis	IBA
GO:0061760	Process	Antifungal innate immune response	IEA
GO:0061760	Process	Antifungal innate immune response	IMP	29326275
GO:0061760	Process	Antifungal innate immune response	ISS
GO:0070098	Process	Chemokine-mediated signaling pathway	IEA
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0071222	Process	Cellular response to lipopolysaccharide	ISS
GO:0071345	Process	Cellular response to cytokine stimulus	IEA
GO:0090026	Process	Positive regulation of monocyte chemotaxis	IEA
GO:0097447	Component	Dendritic tree	ISS
GO:0098883	Process	Synapse pruning	IC
GO:0098883	Process	Synapse pruning	IEA
GO:0098883	Process	Synapse pruning	ISS
GO:0110091	Process	Negative regulation of hippocampal neuron apoptotic process	ISS
GO:0150090	Process	Multiple spine synapse organization, single dendrite	IEA
GO:0150090	Process	Multiple spine synapse organization, single dendrite	ISS
GO:0160056	Component	Macropinosome membrane	TAS
GO:1904139	Process	Regulation of microglial cell migration	TAS	24352739
GO:1904150	Process	Negative regulation of microglial cell mediated cytotoxicity	IEA
GO:1904150	Process	Negative regulation of microglial cell mediated cytotoxicity	ISS
GO:2001234	Process	Negative regulation of apoptotic signaling pathway	ISS

MIM	HGNC	e!Ensembl
601470	2558	ENSG00000168329

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

MDQFPESVTENFEYDDLAEACYIGDIVVFGTVFLSIFYSVIFAIGLVGNLLVVFALTNSK
KPKSVTDIYLLNLALSDLLFVATLPFWTHYLINEKGLHNAMCKFTTAFFFIGFFGSIFFI
TVISIDRYLAIVLAANSMNNRTVQHGVTISLGVWAAAILVAAPQFMFTKQKENECLGDYP
EVLQEIWPVLRNVETNFLGFLLPLLIMSYCYFRIIQTLFSCKNHKKAKAIKLILLVVIVF
FLFWTPYNVMIFLETLKLYDFFPSCDMRKDLRLALSVTETVAFSHCCLNPLIYAFAGEKF
RRYLYHLYGKCLAVLCGRSVHVDFSSSESQRSRHGSVLSSNFTYHTSDGDALLLL

Sequence length

355

Interactions

View interactions

	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

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs3732379, rs3732378	-
Age related macular degeneration 12	Uncertain significance	rs147724093	RCV001280984
Coronary heart disease, susceptibility to, 1	Uncertain significance	rs147724093	RCV001280984
CX3CR1-related disorder	Likely benign; Uncertain significance	rs4986872, rs200607201, rs759707908, rs139019894, rs147724093	RCV003909396 RCV003967277 RCV003934586 RCV003903317 RCV003918817
Susceptibility to HIV infection	Uncertain significance	rs147724093	RCV001280984

Show/Hide Text Mining Associations (177)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abortion Habitual	Associate	35027970
Acquired Immunodeficiency Syndrome	Associate	18391751, 20531015
Acute Coronary Syndrome	Associate	11264153
Acute Coronary Syndrome	Inhibit	12697743
Adenocarcinoma	Associate	26633537, 31077234
Adenocarcinoma	Inhibit	30150990
Adenocarcinoma of Lung	Associate	33977344, 35833114, 37770496
Adenoma	Associate	35140706
Adrenocortical Carcinoma	Associate	34220331
alpha 1 Antitrypsin Deficiency	Associate	34002692
Alzheimer Disease	Associate	36189598, 36405736
Amyotrophic Lateral Sclerosis	Associate	24806473, 28342179, 28973548
Anemia	Associate	25105870, 37175630
Anemia Aplastic	Associate	24528288
Angina Unstable	Associate	20019415
Anthracosis	Inhibit	16524739
Anthracosis	Associate	16524739
Anthropophobia	Stimulate	32369455
Aortic Aneurysm Abdominal	Associate	18296082
Aortic Aneurysm Familial Abdominal 1	Associate	18296082, 36341412
Aortic Aneurysm Thoracic	Associate	33531038, 36341412
Aortic Valve Disease	Associate	30810667
Arthritis	Associate	32884948
Arthritis Rheumatoid	Associate	11762935, 15880821, 17471309, 17665439
Arthritis Rheumatoid	Stimulate	12428227
Asthma	Associate	15038835, 19223978, 20523302, 26107373
Atherosclerosis	Associate	11264153, 11532900, 12697743, 14990582, 15944936, 17456471, 19840952, 20019415, 21525510, 21873805, 22313962, 32107839, 32229536, 32686027
Atherosclerosis	Inhibit	24307998
Autism Spectrum Disorder	Associate	28763059
Autoimmune Diseases	Associate	24528288
Blood Coagulation Disorders	Associate	27703039
Brain Ischemia	Associate	19755791
Breast Neoplasms	Associate	35294039, 37040163
Bronchiolitis Obliterans Syndrome	Inhibit	17264819
Carcinoma Hepatocellular	Associate	25926643, 40051011
Carcinoma Non Small Cell Lung	Associate	34603645, 37009132
Carcinoma Ovarian Epithelial	Associate	22064656, 33819196
Carcinoma Ovarian Epithelial	Stimulate	38241595
Cardiomyopathy Dilated	Associate	35618744
Cardiovascular Abnormalities	Associate	12846758
Cardiovascular Diseases	Associate	12697743, 12846758, 14990582, 32229536
Carotid Artery Diseases	Associate	19755791
Carotid Stenosis	Associate	19755791, 28677375
Cerebral Infarction	Associate	19755791
Colitis Collagenous	Stimulate	25948880
Colitis Lymphocytic	Stimulate	25948880
Colorectal Neoplasms	Associate	35140706, 38572984
Constriction Pathologic	Associate	32802883
Coronary Aneurysm	Inhibit	11264153
Coronary Artery Disease	Associate	11264153, 11532900, 20523302, 34794330
Coronary Artery Disease	Inhibit	20523302
Coronary Disease	Inhibit	12697743
Coronary Disease	Associate	27013693
COVID 19	Associate	35528178, 35885892
Cystic Fibrosis	Associate	19000946
Cytomegalovirus Infections	Stimulate	28338007, 32369455
Death	Associate	24307998, 34220331
Dementia	Associate	25105870
Dermatitis Atopic	Associate	15131578
Developmental Disabilities	Associate	28763059
Developmental Dysplasia of the Hip	Associate	23716478, 27176135
Diabetes Mellitus	Associate	11264153, 23956503, 25105870
Diabetes Mellitus Type 2	Associate	21525510, 28128806
Diabetic Nephropathies	Associate	36092962, 36969169
Disease	Associate	31652730, 35059324, 35222428
Fibrosis	Associate	35222428
Food Hypersensitivity	Associate	24970890
Giant Cell Arteritis	Associate	39436725
Glioblastoma	Associate	35327982
Glioma	Associate	20511186
Glomerulonephritis IGA	Stimulate	22572859
Glomerulonephritis IGA	Associate	22892858
Glucose Intolerance	Associate	30941121
Glycosuria Renal	Associate	17579663
Hematuria	Associate	22572859, 22892858
Hepatitis B	Associate	25926643
Hip Dislocation	Associate	27176135
HIV Infections	Associate	11535497, 21630248, 22313962, 25313609, 27703039, 30941121, 32369455, 33963550
HIV Infections	Stimulate	28338007, 36036630
HIV Infections	Inhibit	37480005
Hyperplasia	Associate	39436725
Hypoxia	Stimulate	24270813, 31077234, 35186183
Idiopathic Pulmonary Fibrosis	Associate	32922201, 35222428
IgA Vasculitis	Associate	11762935
Immune System Diseases	Associate	23663527
Immunologic Deficiency Syndromes	Associate	36814216
Infarction	Associate	31704966
Infections	Associate	26297201, 28228284
Inflammation	Associate	12110009, 15131578, 15608300, 17456471, 18296082, 20523302, 21525510, 22313962, 24111715, 24270813, 24307998, 25830914, 27013693, 27703039, 28407008 View all (10 more)
Inflammatory Bowel Diseases	Associate	17241867, 29743615
Insulin Resistance	Associate	21525510
Intracranial Aneurysm	Associate	35833148
Invasive Pulmonary Aspergillosis	Associate	31964743
Ischemic Attack Transient	Associate	19755791
Joint Diseases	Associate	32884948
Joint Instability	Associate	36175906
Kidney Diseases	Associate	12110009
Kidney Failure Chronic	Associate	33672355
Leukemia Lymphoma Adult T Cell	Associate	17900259
Leukemia Myeloid Acute	Associate	27258612, 29720577, 36064206
Liver Cirrhosis Biliary	Associate	21636249
Lung Diseases	Associate	28228284
Lung Injury	Associate	31419078
Lung Neoplasms	Associate	19309748, 37770496
Lupus Erythematosus Systemic	Associate	15934075, 26395317
Lupus Erythematosus Systemic	Stimulate	33665864
Lupus Nephritis	Inhibit	30537116
Lymphoma B Cell	Associate	26448050, 29655283
Lymphoma Follicular	Stimulate	35887224
Lymphoma Large B Cell Diffuse	Associate	35887224
Macular Degeneration	Associate	15208270, 15944936, 17057786, 24287500, 25503251, 26464724, 29565837, 33604378
Macular Degeneration	Inhibit	21273533, 35352887
Macular Degeneration	Stimulate	29565837
Melioidosis	Associate	31032897
Metabolic Syndrome	Associate	27013693, 36865544
Multiple Sclerosis	Associate	21320123
Multiple System Atrophy	Associate	29850876
Myelodysplastic Syndromes	Associate	27481108
Myocardial Infarction	Associate	24307998, 27013693
Neoplasm Metastasis	Stimulate	31077234, 37040163
Neoplasm Metastasis	Associate	35294039, 35833114
Neoplasms	Associate	19223978, 24764683, 35140706, 35833114, 37009132, 37040163, 37082943, 37770496, 40121536
Neoplasms Basal Cell	Associate	37040163
Neuralgia	Inhibit	19153557
Neuroinflammatory Diseases	Associate	28342179
Obesity	Associate	20523302, 38175171
Obesity	Stimulate	36921085
Osteoarthritis	Associate	19302240, 32884948, 37962028
Osteoarthritis Knee	Associate	35785145
Osteogenesis imperfecta type 6	Associate	16524739
Otitis Media	Associate	24718616
Ovarian Neoplasms	Associate	22064656, 26633537, 31077234, 35777713
Pancreatic Neoplasms	Associate	29274778
Pancreatitis	Associate	29274778
Pancreatitis Chronic	Stimulate	19153557
Paraparesis Tropical Spastic	Associate	22335964
Pediatric acute onset neuropsychiatric syndrome	Associate	15934075
pediatric multisystem inflammatory disease COVID 19 related	Associate	34035116
Periodontal Diseases	Associate	15730397
Pneumoconiosis	Associate	16524739
Pneumonia	Associate	36814216
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	36064206
Prostatic Neoplasms	Associate	40121536
Psoriasis	Stimulate	15131578
Pulmonary Arterial Hypertension	Associate	16584113, 34252346
Pulmonary Disease Chronic Obstructive	Associate	31419078
Pulmonary Fibrosis	Associate	33665864
Purpura Thrombocytopenic Idiopathic	Stimulate	18519809
Renal Insufficiency	Associate	33672355
Renal Insufficiency Chronic	Stimulate	21873805, 30249039
Renal Insufficiency Chronic	Associate	23663527, 24111715, 25830914, 29016630, 33672355
Respiratory Sounds	Associate	18257903
Respiratory Syncytial Virus Infections	Associate	26297201, 28228284
Respiratory Tract Diseases	Associate	26107373
Rheumatoid Vasculitis	Associate	17075825
Rhinitis Allergic	Associate	17982926
Rupture	Associate	20019415
Sarcoidosis	Associate	22984568
Schizophrenia	Associate	28763059
Scleroderma Diffuse	Stimulate	15608300
Scleroderma Systemic	Associate	15608300, 16584113
Sjogren's Syndrome	Associate	29655283, 36171070
Soft Tissue Injuries	Associate	12810688
Squamous Cell Carcinoma of Head and Neck	Associate	35003322, 37082943
ST Elevation Myocardial Infarction	Inhibit	29024334
ST Elevation Myocardial Infarction	Associate	31704966
Status Asthmaticus	Associate	15038835, 33450610
Stomach Neoplasms	Associate	24764683
Tarlov Cysts	Associate	24764683
Tertiary Lymphoid Structures	Associate	17900259
Tourette Syndrome	Associate	36674940
Triple Negative Breast Neoplasms	Associate	37040163
Tuberculosis Meningeal	Associate	37480005
Uveitis	Associate	37042831
Vascular Diseases	Associate	11532900
Vascular System Injuries	Associate	15608300
Zika Virus Infection	Associate	33525328

CX3CR1 (C-X3-C motif chemokine receptor 1)