image of a green circle Annotated and expert reviewed. Please contact us if you can help with updates. 

CX3CR1

Family: Chemokine receptors

Contents:
Gene and Protein Information
Previous and Unofficial Names
Database Links
Agonists
Transduction Mechanisms
Tissue Distribution
Expression Datasets
Functional Assays
Physiological Functions
Physiological Consequences of Altering Gene Expression
Phenotypes, Alleles and Disease Models
Clinically-Relevant Mutations and Pathophysiology
Biologically Significant Variants
References
Gene and Protein Information
class A G protein-coupled receptor
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human 7 355 3p21; 3p21.3 CX3CR1 chemokine (C-X3-C motif) receptor 1 5,8,25
Mouse 7 354 9 F4 Cx3cr1 chemokine (C-X3-C) receptor 1 6
Rat 7 354 8q32 Cx3cr1 chemokine (C-X3-C motif) receptor 1 23
Previous and Unofficial Names
Names References
GPR13
CMKBRL1 5,8
V28 14,25
Fractalkine receptor
CMKDR1
CCRL1
chemokine (C-X3-C) receptor 1
Rbs11
C-X3-C CKR-1
CX3C chemokine receptor 1
Rbs11 protein
Database Links
ChEMBL Target
Ensembl
Entrez Gene
GeneCards
GenitoUrinary Development Molecular Anatomy Project
HomoloGene
Human Protein Reference Database
InterPro
KEGG Gene
OMIM
Orphanet Gene
PharmGKB Gene
PhosphoSitePlus
Protein Ontology (PRO)
RefSeq Nucleotide
RefSeq Protein
TreeFam
UniGene Hs.
UniProt
Wikipedia
Search for 3D structures on the PDB
Search by keyword: Chemokine receptors CX3CR1
Natural/Endogenous Ligand(s)
CX3CL1 {Sp: Human} , CX3CL1 {Sp: Rat} , CX3CL1 {Sp: Mouse}
Agonists
Key to terms and symbols Click column headers to sort
Ligand Sp. Action Affinity Units Reference
CX3CL1 {Sp: Human} Hs Full agonist 8.9 pIC50 12
Primary Transduction Mechanisms
Transducer Effector/Response
Gi/Go family Calcium channel
References:  24
Tissue Distribution
Blood peripheral leukocytes.
Species:  Human
Technique:  Northern blotting.
References:  14
Blood monocytes.
Species:  Human
Technique: 
References:  26
Skeletal muscle, spleen, peripheral blood leukocytes.
Species:  Human
Technique:  Northern blotting.
References:  25
CNS: cerebral cortex, medulla, occipital pole, frontal lobe, temporal lobe, putamen, spinal cord.
Species:  Human
Technique:  Northern blotting.
References:  25
Brain, lung > liver, kidney, testes.
Species:  Mouse
Technique:  Northern blotting.
References:  6
Hippocampal neurons.
Species:  Rat
Technique:  RT-PCR.
References:  20
Primary cultures of rat astrocytes and microglia.
Species:  Rat
Technique:  Northern blotting.
References:  15
Glial cells throughout the whole brain.
Species:  Rat
Technique:  in situ hybridisation.
References:  23
Expression Datasets

Click here to show/hide data

Log average relative transcript abundance in mouse tissues measured by qPCR from Regard, J.B., Sato, I.T., and Coughlin, S.R. (2008). Anatomical profiling of G protein-coupled receptor expression. Cell, 135(3): 561-71. [PMID:18984166] [Raw data: website]

There should be a chart of expression data here, you may need to enable JavaScript!
Functional Assays
Measurement of Ca2+ levels in HEK 293/EBNA-1 cells transfected with the human CX3CR1 receptor.
Species:  Human
Tissue:  HEK 293/EBNA-1 cells.
Response measured:  Ca2+ mobilisation.
References:  14
Measurement of chemotaxis of HEK 293/EBNA-1 cells transfected with the human CX3CR1 receptor.
Species:  Human
Tissue:  HEK 293/EBNA-1 cells.
Response measured:  Chemotaxis.
References:  14
Measurement of adhesion of HEK 293/EBNA-1 cells transfected with the human CX3CR1 receptor to immobilized fractalkine-SEAP (fractalkine, a chemokine, fused to a secreted form of placental alkaline phosphatase).
Species:  Human
Tissue:  HEK 293/EBNA-1 cells.
Response measured:  Cell adhesion.
References:  14
Detection of HIV-1 fusion to NIH 3T3 cells transfected with the CX3CR1 receptor and CD4.
Species:  Human
Tissue:  NIH 3T3 cells.
Response measured:  HEV-1 fusion.
References:  8
Measurement of Ca2+ currents in HEK 293 cells stably expressing N-type calcium channels and the rat CX3CR1 receptor, using Ba2+ as the charge carrier (IBa).
Species:  Rat
Tissue:  HEK 293 cells.
Response measured:  IBa inhibition.
References:  24
Measurement of chemotaxis of HEK 293 cells transfected with the mouse CX3CR1 receptor.
Species:  Mouse
Tissue:  HEK 293 cells.
Response measured:  Chemotaxis.
References:  6
Measurement of Ca2+ levels in HEK 293 cells transfected with the mouse CX3CR1 receptor.
Species:  Mouse
Tissue:  HEK 293 cells.
Response measured:  Ca2+ mobilisation.
References:  6
Physiological Functions
HIV coreceptor.
Species:  Human
Tissue:  In vitro.
References:  8
Atherogenesis.
Species:  Human
Tissue:  In vivo.
References:  9
Macrophage recruitment.
Species:  Mouse
Tissue:  In vivo.
References:  7
Atherogenesis.
Species:  Mouse
Tissue:  In vivo.
References:  7,17,28
Physiological Consequences of Altering Gene Expression
CX3CR1(-/-)/apoE(-/-) double knockout mice exhibit attenuated macrophage recruitment and atherosclerotic lesion development.
Species:  Mouse
Tissue: 
Technique:  Gene targeting in embryonic stem cells.
References:  7,17,28
Phenotypes, Alleles and Disease Models Mouse data from MGI

Click here to show/hide data

Allele Composition & genetic background Accession Phenotype Id Phenotype Reference
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
B6.129P2-Cx3cr1
MGI:1333815  MP:0004883 abnormal blood vessel healing PMID: 16809547 
Ccl2tm1Rol|Cx3cr1tm1Zm Ccl2tm1Rol/Ccl2tm1Rol,Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129 * 129S4/SvJae
MGI:1333815  MGI:98259  MP:0005239 abnormal Bruch membrane morphology PMID: 17652758 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
involves: 129P2/OlaHsd
MGI:1333815  MP:0002376 abnormal dendritic cell physiology PMID: 15653504 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
involves: 129P2/OlaHsd * C57BL/6
MGI:1333815  MP:0002442 abnormal leukocyte physiology PMID: 18843253 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
B6.129P2-Cx3cr1
MGI:1333815  MP:0002442 abnormal leukocyte physiology PMID: 16809547 
Cx3cr1+|Cx3cr1tm1Litt|Psen1tm1Mpm|Tg(APPSwe,tauP301L)1Lfa|Tg(Thy1-YFPH)2Jrs Cx3cr1tm1Litt/Cx3cr1+,Psen1tm1Mpm/Psen1tm1Mpm,Tg(APPSwe,tauP301L)1Lfa/0,Tg(Thy1-YFPH)2Jrs/0
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA
MGI:1202717  MGI:1333815  MGI:2684637  MGI:3497950  MP:0000136 abnormal microglial cell morphology PMID: 20305648 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
B6.129P2-Cx3cr1
MGI:1333815  MP:0003691 abnormal microglial cell physiology PMID: 16732273 
Cx3cr1+|Cx3cr1tm1Litt|Psen1tm1Mpm|Tg(APPSwe,tauP301L)1Lfa|Tg(Thy1-YFPH)2Jrs Cx3cr1tm1Litt/Cx3cr1+,Psen1tm1Mpm/Psen1tm1Mpm,Tg(APPSwe,tauP301L)1Lfa/0,Tg(Thy1-YFPH)2Jrs/0
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA
MGI:1202717  MGI:1333815  MGI:2684637  MGI:3497950  MP:0003691 abnormal microglial cell physiology PMID: 20305648 
Cx3cr1tm1Ifc Cx3cr1tm1Ifc/Cx3cr1tm1Ifc
involves: 129S4/SvJae * C57BL/6
MGI:1333815  MP:0005069 abnormal NK cell physiology PMID: 11544273 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
B6.129P2-Cx3cr1
MGI:1333815  MP:0005069 abnormal NK cell physiology PMID: 16675847 
Cx3cr1tm1Litt|H2-Ab1+|H2-Ab1tm1Hpl Cx3cr1tm1Litt/Cx3cr1tm1Litt,H2-Ab1tm1Hpl/H2-Ab1+
involves: 129P2/OlaHsd * 129S4/SvJae
MGI:103070  MGI:1333815  MP:0005025 abnormal response to infection PMID: 15653504 
Cx3cr1tm1Ifc Cx3cr1tm1Ifc/Cx3cr1tm1Ifc
involves: 129S4/SvJae * C57BL/6
MGI:1333815  MP:0005671 abnormal response to transplant PMID: 11544273 
Cx3cr1tm1Zm Cx3cr1tm1Zm/Cx3cr1tm1Zm
C.129-Cx3cr1
MGI:1333815  MP:0003728 abnormal retinal photoreceptor layer PMID: 17909628 
Cx3cr1tm1Zm Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129 * C57BL/6
MGI:1333815  MP:0003728 abnormal retinal photoreceptor layer PMID: 17909628 
Ccl2tm1Rol|Cx3cr1tm1Zm Ccl2tm1Rol/Ccl2tm1Rol,Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129 * 129S4/SvJae
MGI:1333815  MGI:98259  MP:0005103 abnormal retinal pigmentation PMID: 17652758 
Ccl2tm1Rol|Cx3cr1tm1Zm Ccl2tm1Rol/Ccl2tm1Rol,Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129 * 129S4/SvJae
MGI:1333815  MGI:98259  MP:0005201 abnormal retinal pigment epithelium morphology PMID: 17652758 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
involves: 129P2/OlaHsd * C57BL/6
MGI:1333815  MP:0001325 abnormal retina morphology PMID: 17909628 
Cx3cr1tm1Zm Cx3cr1tm1Zm/Cx3cr1tm1Zm
C.129-Cx3cr1
MGI:1333815  MP:0001325 abnormal retina morphology PMID: 17909628 
Cx3cr1tm1Zm Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129 * C57BL/6
MGI:1333815  MP:0001325 abnormal retina morphology PMID: 17909628 
Ccl2tm1Rol|Cx3cr1tm1Zm Ccl2tm1Rol/Ccl2tm1Rol,Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129 * 129S4/SvJae
MGI:1333815  MGI:98259  MP:0001325 abnormal retina morphology PMID: 17652758 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
involves: 129P2/OlaHsd
MGI:1333815  MP:0008108 abnormal small intestinal villus morphology PMID: 15653504 
Cx3cr1tm1Zm Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
MGI:1333815  MP:0009333 abnormal splenocyte physiology PMID: 12600915 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
B6.129P2-Cx3cr1
MGI:1333815  MP:0005595 abnormal vascular smooth muscle physiology PMID: 16809547 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
B6.129P2-Cx3cr1
MGI:1333815  MP:0001847 brain inflammation PMID: 16675847 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
B6.129P2-Cx3cr1
MGI:1333815  MP:0006051 brainstem hemorrhage PMID: 16675847 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
involves: 129P2/OlaHsd * C57BL/6
MGI:1333815  MP:0005546 choroidal neovascularization PMID: 17909628 
Cx3cr1tm1Zm Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129 * C57BL/6
MGI:1333815  MP:0005546 choroidal neovascularization PMID: 17909628 
Ccl2tm1Rol|Cx3cr1tm1Zm Ccl2tm1Rol/Ccl2tm1Rol,Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129 * 129S4/SvJae
MGI:1333815  MGI:98259  MP:0005546 choroidal neovascularization PMID: 17652758 
Cx3cr1tm1Litt|Tg(SOD1*G93A)1Gur Cx3cr1tm1Litt/Cx3cr1tm1Litt,Tg(SOD1*G93A)1Gur/0
involves: 129P2/OlaHsd * C57BL/6 * SJL
MGI:1333815  MGI:2388308  MP:0010053 decreased grip strength PMID: 16732273 
Ccl2tm1Rol|Cx3cr1tm1Zm Ccl2tm1Rol/Ccl2tm1Rol,Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129 * 129S4/SvJae
MGI:1333815  MGI:98259  MP:0001935 decreased litter size PMID: 17652758 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
involves: 129P2/OlaHsd * C57BL/6
MGI:1333815  MP:0000223 decreased monocyte cell number PMID: 18971423 
Cx3cr1tm1Litt|Tg(SOD1*G93A)1Gur Cx3cr1tm1Litt/Cx3cr1tm1Litt,Tg(SOD1*G93A)1Gur/0
involves: 129P2/OlaHsd * C57BL/6 * SJL
MGI:1333815  MGI:2388308  MP:0008948 decreased neuron number PMID: 16732273 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
B6.129P2-Cx3cr1
MGI:1333815  MP:0008045 decreased NK cell number PMID: 16675847 
Cd1d1tm1Luc|Cx3cr1tm1Litt Cd1d1tm1Luc/Cd1d1tm1Luc,Cx3cr1tm1Litt/Cx3cr1tm1Litt
B6.129-Cd1d1 Cx3cr1
MGI:107674  MGI:1333815  MP:0008045 decreased NK cell number PMID: 16675847 
Apoetm1Bres|Cx3cr1tm1Ifc Apoetm1Bres/Apoetm1Bres,Cx3cr1tm1Ifc/Cx3cr1tm1Ifc
involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6
MGI:1333815  MGI:88057  MP:0005341 decreased susceptibility to atherosclerosis PMID: 12569158 
Apoetm1Unc|Cx3cr1tm1Zm Apoetm1Unc/Apoetm1Unc,Cx3cr1tm1Zm/Cx3cr1tm1Zm
B6.129-Apoe Cx3cr1
MGI:1333815  MGI:88057  MP:0005341 decreased susceptibility to atherosclerosis PMID: 12600915 
Apoetm1Unc|Cx3cr1+|Cx3cr1tm1Zm Apoetm1Unc/Apoetm1Unc,Cx3cr1tm1Zm/Cx3cr1+
B6.129-Apoe Cx3cr1
MGI:1333815  MGI:88057  MP:0005341 decreased susceptibility to atherosclerosis PMID: 12600915 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
involves: 129P2/OlaHsd * C57BL/6
MGI:1333815  MP:0004042 decreased susceptibility to kidney reperfusion injury PMID: 18843253 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
B6.129P2-Cx3cr1
MGI:1333815  MP:0000921 demyelination PMID: 16675847 
Ccl2tm1Rol|Cx3cr1tm1Zm Ccl2tm1Rol/Ccl2tm1Rol,Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129 * 129S4/SvJae
MGI:1333815  MGI:98259  MP:0008586 disorganized photoreceptor outer segment PMID: 17652758 
Cx3cr1tm1Ifc Cx3cr1tm1Ifc/Cx3cr1tm1Ifc
involves: 129S4/SvJae * C57BL/6
MGI:1333815  MP:0005496 impaired macrophage recruitment PMID: 11544273 
Apoetm1Bres|Cx3cr1tm1Ifc Apoetm1Bres/Apoetm1Bres,Cx3cr1tm1Ifc/Cx3cr1tm1Ifc
involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6
MGI:1333815  MGI:88057  MP:0005496 impaired macrophage recruitment PMID: 12569158 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
involves: 129P2/OlaHsd * C57BL/6
MGI:1333815  MP:0005496 impaired macrophage recruitment PMID: 18843253 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
B6.129P2-Cx3cr1
MGI:1333815  MP:0003203 increased neuron apoptosis PMID: 16732273 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
B6.129P2-Cx3cr1
MGI:1333815  MP:0008873 increased physiological sensitivity to xenobiotic PMID: 16732273 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
B6.129P2-Cx3cr1
MGI:1333815  MP:0009763 increased sensitivity to induced morbidity/mortality PMID: 16675847 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
involves: 129P2/OlaHsd
MGI:1333815  MP:0009788 increased susceptibility to bacterial infection induced morbidity/mortality PMID: 15653504 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
B6.129P2-Cx3cr1
MGI:1333815  MP:0004799 increased susceptibility to experimental autoimmune encephalomyelitis PMID: 16675847 
Cx3cr1+|Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1+
B6.129P2-Cx3cr1
MGI:1333815  MP:0004799 increased susceptibility to experimental autoimmune encephalomyelitis PMID: 16675847 
Cd1d1tm1Luc|Cx3cr1tm1Litt Cd1d1tm1Luc/Cd1d1tm1Luc,Cx3cr1tm1Litt/Cx3cr1tm1Litt
B6.129-Cd1d1 Cx3cr1
MGI:107674  MGI:1333815  MP:0004799 increased susceptibility to experimental autoimmune encephalomyelitis PMID: 16675847 
Cx3cr1tm1Litt|Tg(SOD1*G93A)1Gur Cx3cr1tm1Litt/Cx3cr1tm1Litt,Tg(SOD1*G93A)1Gur/0
involves: 129P2/OlaHsd * C57BL/6 * SJL
MGI:1333815  MGI:2388308  MP:0010180 increased susceptibility to weight loss PMID: 16732273 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
B6.129P2-Cx3cr1
MGI:1333815  MP:0008918 microgliosis PMID: 16732273 
Cx3cr1+|Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1+
B6.129P2-Cx3cr1
MGI:1333815  MP:0008918 microgliosis PMID: 16732273 
Cx3cr1+|Cx3cr1tm1Litt|Psen1tm1Mpm|Tg(APPSwe,tauP301L)1Lfa|Tg(Thy1-YFPH)2Jrs Cx3cr1tm1Litt/Cx3cr1+,Psen1tm1Mpm/Psen1tm1Mpm,Tg(APPSwe,tauP301L)1Lfa/0,Tg(Thy1-YFPH)2Jrs/0
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA
MGI:1202717  MGI:1333815  MGI:2684637  MGI:3497950  MP:0003224 neuron degeneration PMID: 20305648 
Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1tm1Litt
B6.129P2-Cx3cr1
MGI:1333815  MP:0000753 paralysis PMID: 16675847 
Cd1d1tm1Luc|Cx3cr1tm1Litt Cd1d1tm1Luc/Cd1d1tm1Luc,Cx3cr1tm1Litt/Cx3cr1tm1Litt
B6.129-Cd1d1 Cx3cr1
MGI:107674  MGI:1333815  MP:0000753 paralysis PMID: 16675847 
Cx3cr1+|Cx3cr1tm1Litt Cx3cr1tm1Litt/Cx3cr1+
B6.129P2-Cx3cr1
MGI:1333815  MP:0000754 paresis PMID: 16675847 
Cx3cr1tm1Litt|Tg(SOD1*G93A)1Gur Cx3cr1tm1Litt/Cx3cr1tm1Litt,Tg(SOD1*G93A)1Gur/0
involves: 129P2/OlaHsd * C57BL/6 * SJL
MGI:1333815  MGI:2388308  MP:0002083 premature death PMID: 16732273 
Cx3cr1tm1Zm Cx3cr1tm1Zm/Cx3cr1tm1Zm
C.129-Cx3cr1
MGI:1333815  MP:0001326 retinal degeneration PMID: 17909628 
Cx3cr1tm1Zm Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129 * C57BL/6
MGI:1333815  MP:0001326 retinal degeneration PMID: 17909628 
Cx3cr1tm1Zm Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129 * C57BL/6
MGI:1333815  MP:0006187 retinal deposits PMID: 17909628 
Ccl2tm1Rol|Cx3cr1tm1Zm Ccl2tm1Rol/Ccl2tm1Rol,Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129 * 129S4/SvJae
MGI:1333815  MGI:98259  MP:0006187 retinal deposits PMID: 17652758 
Ccl2tm1Rol|Cx3cr1tm1Zm Ccl2tm1Rol/Ccl2tm1Rol,Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129 * 129S4/SvJae
MGI:1333815  MGI:98259  MP:0008450 retinal photoreceptor degeneration PMID: 17652758 
Ccl2tm1Rol|Cx3cr1tm1Zm Ccl2tm1Rol/Ccl2tm1Rol,Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129 * 129S4/SvJae
MGI:1333815  MGI:98259  MP:0005548 retinal pigment epithelium atrophy PMID: 17652758 
Ccl2tm1Rol|Cx3cr1tm1Zm Ccl2tm1Rol/Ccl2tm1Rol,Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129 * 129S4/SvJae
MGI:1333815  MGI:98259  MP:0005549 retinal pigment epithelium hyperplasia PMID: 17652758 
Cx3cr1tm1Zm Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129 * C57BL/6
MGI:1333815  MP:0008515 thin retinal outer nuclear layer PMID: 17909628 
Ccl2tm1Rol|Cx3cr1tm1Zm Ccl2tm1Rol/Ccl2tm1Rol,Cx3cr1tm1Zm/Cx3cr1tm1Zm
involves: 129 * 129S4/SvJae
MGI:1333815  MGI:98259  MP:0010016 variable depigmentation PMID: 17652758 
Clinically-Relevant Mutations and Pathophysiology
Disease:  Age-related macular degeneration
OMIM: 
Orphanet: 
Comments: 
References:  4
Click column headers to sort
Type Species Molecular location Description Reference
single nucleotide polymorphism Human T280M 4
Biologically Significant Variants
A Val249 -> Ile polymorphism may be associated with an decreased risk of atherosclerotic coronary artery disease and improved endothelium-dependent vasodilation.
Type:  Single nucleotide polymorphism.
Species:  Human
References:  19,21
The Val249 -> Ile polymorphism may be involved in the stabilisation of carotid plaques.
Type:  Single nucleotide polymorphism.
Species:  Human
References:  13
A Val249 -> Ile polymorphism is thought may be associated with increased intercellular adhesion.
Type:  Single nucleotide polymorphism.
Species:  Human
References:  10
A Val249 -> Ile polymorphism may be linked to immunological therapy failure.
Type:  Single nucleotide failure.
Species:  Human
References:  3
The Val249 -> Ile polymorphism may be linked to an increased occurrence of acute coronary syndrome (ACS).
Type:  Single nucleotide polymorphism.
Species:  Human
References:  22
A Thr280 -> Met polymorphism is thought may have an atheroprotective effect.
Type:  Single nucleotide polymorphism.
Species:  Human
References:  1
A Thr280 -> Met polymorphism may be associated with a reduced risk of developing cardiovascular disease.
Type:  Single nucleotide polymorphism.
Species:  Human
References:  18
The Thr280 -> Met polymorphism is associated with a reduced risk of internal carotid artery (ICA) occlusive disease.
Type:  Single nucleotide polymorphism.
Species:  Human
References:  13
The Thr280 -> Met polymorphism may be linked to a decreased occurrence of acute coronary syndrome (ACS).
Type:  Single nucleotide polymorphism.
Species:  Human
References:  22
The Thr280 -> Met polymorphism may be associated with the phenotype and localisation of Crohn's disease.
Type:  Single nucleotide polymorphism.
Species:  Human
References:  2
A Thr280 -> Met, Val249 -> Ile haplotype variant is associated with more rapid HIV-1 disease progression.
Type:  Single nucleotide polymorphisms.
Species:  Human
References:  11,27
Both Thr280 -> Met and Val249 -> Ile polymorphisms are associated with an increased risk of brain infarction.
Type:  Single nucleotide polymorphisms.
Species:  Human
References:  16

REFERENCES

To cite this database page, please use the following:

Israel F. Charo, Rebecca Hills, Richard Horuk, Kouji Matsushima, Philip M. Murphy, Joost J. Oppenheim.
Chemokine receptors: CX3CR1. Last modified on 31/01/2013. Accessed on 23/05/2013. IUPHAR database (IUPHAR-DB), http://iuphar-db.org/DATABASE/ObjectDisplayForward?objectId=74.


Contact us | Print | Back to top | Help