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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CX3CR1 Gene

protein-coding GIFtS: 63
GCID: GC03M039279

chemokine (C-X3-C motif) receptor 1

(Previous name: chemokine (C-X3-C) receptor 1 )
(Previous symbols: GPR13, CMKBRL1)

Explore 88 diseases affiliated with
CX3CR1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Chemokine (C-X3-C Motif) Receptor 1¹ ²		CMK-BRL-1² ³
GPR13¹ ² ³ ⁵		CMK-BRL1² ³
V28¹ ² ³ ⁵		C-X3-C CKR-1² ³
CMKBRL1¹ ² ³		G-Protein Coupled Receptor 13² ³
CCRL1¹ ²		GPRV28²
CMKDR1¹ ²		Chemokine (C-C) Receptor-Like 1²
Chemokine (C-X3-C) Receptor 1¹ ²		CX3C Chemokine Receptor 1²
Beta Chemokine Receptor-Like 1² ³		G Protein-Coupled Receptor 13²
Fractalkine Receptor² ³

External Ids:	HGNC: 2558¹	Entrez Gene: 1524²	Ensembl: ENSG00000168329⁷	OMIM: 601470⁵	UniProtKB: P49238³

Export aliases for CX3CR1 gene to outside databases

Previous GC identifers: GC03M038644 GC03M038538 GC03M039118 GC03M039265

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CX3CR1:

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 lead to increased susceptibility to HIV-1 infection and rapid progression to AIDS. Four

transcript variants encoding two different isoforms have been found for this gene. (provided by RefSeq, Jan 2010)

UniProtKB/Swiss-Prot: CX3C1_HUMAN, P49238

Function: Receptor for the CX3C chemokine fractalkine and mediates both its adhesive and migratory functions. Acts as

coreceptor with CD4 for HIV-1 virus envelope protein (in vitro). Isoform 2 and isoform 3 seem to be more potent HIV-1

coreceptors than isoform 1

Gene Wiki entry for CX3CR1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.1 NT_022517.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CX3CR1 gene promoter:
Bach1 Brachyury GATA-1 AREB6 PPAR-gamma1 HFH-1 FOXJ2 (long isoform) PPAR-gamma2 FOXJ2 RSRFC4
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CX3CR1 promoter sequence

Search SABiosciences Chromatin IP Primers for CX3CR1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CX3CR1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21.3 Ensembl cytogenetic band: 3p22.2 HGNC cytogenetic band: 3p21.3

CX3CR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CX3CR1 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M039279: view genomic region (about GC identifiers)

Start:	39,304,985 bp from pter	End:	39,323,226 bp from pter
Size:	18,242 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CX3C1_HUMAN, P49238 (See protein sequence)

Recommended Name: CX3C chemokine receptor 1

Size: 355 amino acids; 40396 Da

Subunit: Interacts with human respiratory syncytial virus (HRSV) protein G; this interaction modulates host immune

response. Interacts with HIV-1 envelope polyprotein gp160

Subcellular location: Cell membrane; Multi-pass membrane protein

Secondary accessions: A0N0N6 B2R5Z4 J3KP17

Alternative splicing: 4 isoforms: P49238-1 P49238-2 P49238-3 P49238-4 (Ref.4 (DA413545) sequence is in conflict in position: 8:F->L. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CX3CR1: NX_P49238

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P49238

CX3CR1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_001164642.1 NP_001164643.1 NP_001164645.1 NP_001328.1

ENSEMBL proteins:

ENSP00000382166 ENSP00000394960 ENSP00000408835 ENSP00000351059 ENSP00000439140

ENSP00000444928

Reactome Protein details: P49238
Human Recombinant Protein Products:

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	Uscn Proteins for CX3CR1

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral to plasma membrane	TAS	9390561
GO:0016021	integral to membrane	--	--
GO:0032809	neuronal cell body membrane	--	--
GO:0043005	neuron projection	--	--

CX3CR1 for ontologies About GeneDecksing

CX3CR1 Antibody Products:

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	Uscn Antibodies for CX3CR1
	ThermoFisher Antibodies for CX3CR1

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	Browse Kits and Assays available from EMD Millipore
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	GenScript Custom Assay Services for CX3CR1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for CX3CR1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CX3CR1 for domains About GeneDecksing

3 InterPro domains/families:

IPR017452 GPCR_Rhodpsn_7TM

IPR005387 Chemokine_CX3CR1

IPR000276 GPCR_Rhodpsn

Graphical View of Domain Structure for InterPro Entry P49238

ProtoNet protein and cluster: P49238

2 Blocks protein families:

IPB000355 Chemokine receptor signature

IPB005387 Fractalkine receptor signature

UniProtKB/Swiss-Prot: CX3C1_HUMAN, P49238

Similarity: Belongs to the G-protein coupled receptor 1 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CX3C1_HUMAN, P49238

Function: Receptor for the CX3C chemokine fractalkine and mediates both its adhesive and migratory functions. Acts as

coreceptor with CD4 for HIV-1 virus envelope protein (in vitro). Isoform 2 and isoform 3 seem to be more potent HIV-1

coreceptors than isoform 1

Genatlas biochemistry entry for CX3CR1:

fractalkine receptor CX3CR1,expressed in T lymphocytes,polynuclear,G protein coupled receptor superfamily,mediating

leukocyte migration and adhesion

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		SwitchGear 3'UTR luciferase reporter plasmid: CX3CR1 3' UTR sequence

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		Search LifeMap BioReagents cell lines for CX3CR1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CX3CR1

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004896	cytokine receptor activity	--	--
GO:0004950	chemokine receptor activity	IEA	--
GO:0005515	protein binding	IPI	9931005
GO:0016495	C-X3-C chemokine receptor activity	--	--

CX3CR1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for CX3CR1:

Decreased nuclei size in G2M

Animal Models:
Mouse knock-outs for CX3CR1: Cx3cr1^tm1Ifc Cx3cr1^tm1Zm
15/17 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Cx3cr1) (see all 17):

behavior/neurological	cardiovascular system	cellular	digestive/alimentary	growth/size
hematopoietic system	homeostasis/metabolism	immune system	integument	mortality/aging
muscle	nervous system	no phenotypic analysis	pigmentation	renal/urinary system

CX3CR1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Class A/1 (Rhodopsin-like receptors)

	Class A/1 (Rhodopsin-like receptors)	1.00			Peptide ligand-binding receptors	0.61
	GPCR ligand binding	0.75			GPCRs, Class A Rhodopsin-like	0.41

Akt Signaling

	Akt Signaling	1.00			Tec Kinases Signaling	0.55
	p38 Signaling	0.60

Neuropeptides signaling through G-protein alpha-i & G-protein alpha-q

Neuropeptides signaling through G-protein alpha-i & G-protein alpha-q

1.00

Peptide GPCRs

0.46

Chemokine Signaling

Chemokine Signaling

1.00

Chemokine signaling pathway

0.33

Signaling by GPCR

Signaling by GPCR

1.00

Signal Transduction

0.56

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for CX3CR1

Neuropeptides signaling through G-protein alpha-i & G-protein alpha-q

1 R&D Systems Pathway for CX3CR1

A-beta Uptake & Degradation

5/7 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CX3CR1 (see all 7)

	Chemokine Signaling
	STAT3 Pathway
	Molecular Mechanisms of Cancer
	Antioxidant Action of Vitamin-C
	p38 Signaling

2 BioSystems Pathways for CX3CR1

	GPCRs, Class A Rhodopsin-like
	Peptide GPCRs

5/6 Reactome Pathways for CX3CR1 (see all 6)

	Peptide ligand-binding receptors
	Chemokine receptors bind chemokines
	Signal Transduction
	Signaling by GPCR
	GPCR ligand binding

2 Kegg Pathways (Kegg details for CX3CR1):

	Cytokine-cytokine receptor interaction
	Chemokine signaling pathway

CX3CR1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CX3CR1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/59 Interacting proteins for CX3CR1 (P49238³ ENSP00000382166⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 59)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CX3CL1	P78423³, ENSP00000006053⁴	I2D: score=3 STRING: ENSP00000006053
ADRBK1	ENSP00000312262⁴	STRING: ENSP00000312262
ADRBK2	ENSP00000317578⁴	STRING: ENSP00000317578
ARRB1	ENSP00000377141⁴	STRING: ENSP00000377141
ARRB2	ENSP00000269260⁴	STRING: ENSP00000269260

About this table

Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002282	microglial cell activation involved in immune response	--	--
GO:0006935	chemotaxis	TAS	10754298
GO:0006968	cellular defense response	TAS	10754298
GO:0007155	cell adhesion	TAS	10754298
GO:0007186	G-protein coupled receptor signaling pathway	TAS	10754298

CX3CR1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CX3CR1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CX3CR1
9 Novoseek chemical compound relationships for CX3CR1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
rantes	64.1	13	7646814 (2), 16314800 (2), 12879309 (2), 16542377 (2) (see all 8)
ccl3	62.8	3	15784733 (1), 16978874 (1), 19067439 (1)
grgdsp	45.7	1	16042481 (1)
ccl4	22.5	2	16978874 (1), 19067439 (1)
linoleic acid	15	1	16908772 (1)
oxygen	0	1	17476338 (1)
calcium	0	6	11777952 (1), 14607932 (1), 15598425 (1), 16166268 (1) (see all 5)
phosphatidylinositol	0	2	16166268 (1), 17963723 (1)
vegf	0	6	16979977 (5), 16823865 (1)

Search CenterWatch for drugs/clinical trials and news about CX3CR1 / CX3C1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CX3CR1 gene (4 alternative transcripts):

NM_001171171.1 NM_001171172.1 NM_001171174.1 NM_001337.3

Unigene Cluster for CX3CR1:

Chemokine (C-X3-C motif) receptor 1

Hs.78913 [show with all ESTs]

Unigene Representative Sequence: NM_001171171

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000399220(uc003cjl.3) ENST00000435290 ENST00000412814 ENST00000358309(uc021wwc.1)

ENST00000541347(uc021wwb.1) ENST00000542107(uc021wwa.1)

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		hsa-miR-183* hsa-miR-4261 hsa-miR-188-5p hsa-miR-138-2*
		SwitchGear 3'UTR luciferase reporter plasmid: CX3CR1 3' UTR sequence

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Additional cDNA sequence:

AK225764.1 AK307911.1 AK312373.1 BC028078.1 U20350.1 U28934.1

6 DOTS entries:

DT.440934 DT.97864067 DT.120888220 DT.120888223 DT.120888224 DT.40313986

24/59 AceView cDNA sequences (see all 59):

BC028078 AW383382 BP362058 CN832906 AI393440 F05609 Z39769 AI697227

CN832588 AI400350 BP430014 AI128038 CF994665 U28934 NM_001337 BM263045

CA449437 U20350 BQ015421 H43310 BM142618 BI908127 N51278 AI524504

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CX3CR1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TACCCCAATT

About this image

CX3CR1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Placenta

Chorionic Villus

Hofbauer Cells

Extraembryonic Tissues, Placenta

Limb

Forelimb Myotome

Limb Muscle Progenitor Cells

Skeletal Muscle

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CX3CR1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CX3CR1

SOURCE GeneReport for Unigene cluster: Hs.78913

UniProtKB/Swiss-Prot: CX3C1_HUMAN, P49238

Tissue specificity: Expressed in lymphoid and neural tissues

SABiosciences Expression via Pathway-Focused PCR Arrays including CX3CR1:

G Protein Coupled Receptors 384HT in human mouse rat

Neurotrophins & Receptors in human mouse rat

Inflammatory Cytokines & Receptors in human mouse rat

Inflammatory Response & Autoimmunity 384HT in human mouse rat

Chemokines & Receptors in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CX3CR1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for CX3CR1 gene from 3/10 species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CX3CR1¹	chemokine (C-X3-C motif) receptor 1	61.35(n) 53.85(a)		420719 XM_418820.3 XP_418820.1
lizard (Anolis carolinensis)	Reptilia	CX3CR1⁶	--	46(a)	1 ↔ 1	GL343324.1(551813-553448)
zebrafish (Danio rerio)	Actinopterygii	BX511173.1⁶ BX537113.1⁶ (see all 3)	--	38(a) 36(a) (see all 3)	1 ↔ many 1 ↔ many (see all 3)	16(8917191-8918225) 16(9973995-9980180)

ENSEMBL Gene Tree for CX3CR1 (if available)
TreeFam Gene Tree for CX3CR1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CX3CR1 gene

CCR6² CCR5² CXCR6² CXCR3² XCR1² CCR9² CCBP2² CCRL2²

CCR7² CCR8² CXCR2² CCRL1² CCR4² CCR1² CXCR1² CCR2²

CXCR5² CCR10² CCR3² CXCR4²

18/46 SIMAP similar genes for CX3CR1 using alignment to 3 protein entries: CX3C1_HUMAN (see all proteins) (see all similar genes):

CCKBR CCR-5 CCR5 CCR8 CCR1 CCR3

CXCR2 CCR2 CCR4 GPR18 SSTR5 IL8RB

XCR1 BDKRB1 CMKLR1 CCRL1 CXCR1 GPR1

CX3CR1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

UniProtKB/Swiss-Prot: CX3C1_HUMAN, P49238

Polymorphism: Variations in CX3CR1 are associated with rapid progression to AIDS [MIM:609423]. Increased susceptibility

to HIV infection and rapid progression to AIDS are associated with the Ile-249/Met-280 haplotype

SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs3732379^1,2	C,F,H,	pathogenic	93185585(+)	`CATAAC/TGTTGT`	8	I V	mis¹		41		EA MN NA NS WA EU	6510
rs3732378^1,2	C,F,H,	pathogenic	93185679(+)	`CAACCA/GTCTCA`	8	T M	mis¹ ese³		34		EA MN NA NS EU	5867
rs55927158^1,2	C,	--	39304519(-)	`TGAGCT/AGAGCT`	4	--	ds500¹		5		NS	190
rs9826296^1,2	C,F,A,H,	--	39304818(+)	`TCTGCG/ATTCAT`	4	--	ds500¹		29		EA NA NS WA CSA	3028
rs185018390^1,2		--	39305017(+)	`TAAACA/CTTGGA`	4	--	ut3¹		0	--	--	--	--
rs189825753^1,2		--	39305347(+)	`CTGGAC/TGGGTG`	4	--	ut3¹		0	--	--	--	--
rs7636125^1,2	C,F,A,H,	--	39305434(+)	`TTAAAG/CTTTTA`	4	--	ut3¹ ese³		24		NA NS EA WA CSA	1013
rs182434611^1,2		--	39305604(+)	`GGTTAC/TGGAAG`	4	--	ut3¹		0	--	--	--	--
rs185538043^1,2		--	39305716(+)	`CCAAGA/CTTTGT`	4	--	ut3¹		0	--	--	--	--
rs147642545^1,2		--	39305928(+)	`GGGTTA/GGAATC`	4	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CX3CR1 (39304985 - 39323226 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CX3CR1: --
Human Gene Mutation Database (HGMD): CX3CR1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CX3CR1

DNA2.0 Custom Variant and Variant Library Synthesis for CX3CR1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CX3CR1 for disorders           About GeneDecksing

OMIM gene information: 601470
OMIM disorders: 609423  607339  603075
UniProtKB/Swiss-Prot: CX3C1_HUMAN, P49238

Defects in CX3CR1 are a cause of susceptibility to age-related macular degeneration type 12 (ARMD12)

[MIM:613784]. ARMD12 is a form of age-related macular degeneration, a multifactorial eye disease and the most common

cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as

ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment

epithelium and within an elastin-containing structure known as Bruch membrane

20/88 diseases for CX3CR1 (see all 88): About MalaCards

htlv-1 associated myelopathy/tropical spastic paraparesis htlv-1 associated myelopathy tropical spastic paraparesis diffuse large b-cell lymphoma

spastic paraparesis human t-cell leukemia virus type 1 age related macular degeneration macular degeneration

carotid artery occlusion coronary artery disease, resistance to b-cell lymphomas common variable immunodeficiency

abdominal aortic aneurysm aortic aneurysm wegener's granulomatosis arterial occlusive disease

lupus erythematosus spasticity systemic lupus erythematosus cerebrovascular disease

2 diseases from the University of Copenhagen DISEASES database for CX3CR1:

10/30 Novoseek disease relationships for CX3CR1 gene (see all 30) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
inflammation	50.2	18	19915801 (2), 16026776 (1), 16751386 (1), 15608300 (1) (see all 14)
atherosclerosis	49	12	12459434 (2), 16908772 (1), 15017357 (1), 16675737 (1) (see all 10)
rheumatoid arthritis	38	7	12889997 (2), 15880821 (1), 17471309 (1), 18633630 (1) (see all 6)
hiv infections	32.9	15	12799549 (2), 12969992 (1), 16478397 (1), 12646802 (1) (see all 9)
immunodeficiency	30.5	3	15871132 (1), 12975017 (1), 12551893 (1)
synovitis	25.7	1	15880821 (1)
necrosis	24.6	5	12428227 (1), 17063178 (1), 16542377 (1), 16614140 (1) (see all 5)
coronary artery disease	19.9	8	12969992 (1), 16224053 (1), 17329566 (1), 15017357 (1) (see all 8)
coronary atherosclerosis	16.8	1	12697743 (1)
aids	15	12	17151939 (3), 15787642 (1), 12975017 (1), 19032065 (1) (see all 6)

Genetic Association Database (GAD): CX3CR1
Human Genome Epidemiology (HuGE) Navigator: CX3CR1 (92 documents)

Export disorders for CX3CR1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for CX3CR1 gene, integrated from 9 sources (see all 333):
(articles sorted by number of sources associating them with CX3CR1)

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Identification of CX3CR1. A chemotactic receptor for the human CX3C chemokine fractalkine and a fusion coreceptor for HIV-1. (PubMed id 9726990)^{1, 2, 3, 9} Combadiere C....Murphy P.M. (1998)
Cloning, chromosomal localization, and RNA expression of a human beta chemokine receptor-like gene. (PubMed id 7646814)^{1, 2, 3, 9} Combadiere C.... Murphy P.M. (1995)
Polymorphism in the fractalkine receptor CX3CR1 as a genetic risk factor for coronary artery disease. (PubMed id 11264153)^{1, 2, 4, 9} Moatti D....Combadiere C. (2001)
Lack of association between the functional CX3CR1 polymorphism V249I and hepatocellular carcinoma. (PubMed id 15809764)^{1, 4, 9} Muhlbauer M....Hellerbrand C. (2005)
Adverse associations between CX3CR1 polymorphisms and risk of cardiovascular or cerebrovascular disease. (PubMed id 15681302)^{1, 4, 9} Lavergne E....Combadiere C. (2005)
The involvement of sequence variation and expression of CX3CR1 in the pathogenesis of age-related macular degeneration. (PubMed id 15208270)^{1, 2, 9} Tuo J....Chan C.C. (2004)
Genomic organization and evolution of the CX3CR1/CCR8 chemokine receptor locus. (PubMed id 12551893)^{1, 2, 9} DeVries M.E.... Kelvin D.J. (2003)
Two novel fully functional isoforms of CX3CR1 are potent HIV coreceptors. (PubMed id 14607932)^{1, 2, 9} Garin A.... Combadiere C. (2003)
Influence of polymorphisms within the CX3CR1 and MDR-1 genes on initial antiretroviral therapy response. (PubMed id 12545080)^{1, 4, 9} Brumme Z.L....Harrigan P.R. (2003)
Genetic polymorphisms in CX3CR1 predict HIV-1 disease progression in children independently of CD4+ lymphocyte count and HIV-1 RNA load. (PubMed id 15871132)^{1, 4, 9} Singh K.K....Spector S.A. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 1524	HGNC: 2558	AceView: CX3CR1	Ensembl:ENSG00000168329	euGenes: HUgn1524
ECgene: CX3CR1	Kegg: 1524	H-InvDB: CX3CR1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CX3CR1	Pharmacogenomics, SNPs, Pathways
NIEHS-SNPs	http://egp.gs.washington.edu/data/cx3cr1/

Intellectual Property for CX3CR1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for CX3CR1 gene:
Search GeneIP for patents involving CX3CR1

GeneCards and IP:
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chemokine (C-X3-C motif) receptor 1

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chemokine (C-X3-C motif) receptor 1

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