Aliases for CX3CR1 Gene
Aliases for CX3CR1 Gene
External Ids for CX3CR1 Gene
- HGNC: 2558
- Entrez Gene: 1524
- Ensembl: ENSG00000168329
- OMIM: 601470
- UniProtKB: P49238
Previous HGNC Symbols for CX3CR1 Gene
- GPR13
- CMKBRL1
Previous GeneCards Identifiers for CX3CR1 Gene
- GC03M038644
- GC03M038538
- GC03M039118
- GC03M039265
Summaries for CX3CR1 Gene
-
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]
GeneCards Summary for CX3CR1 Gene
CX3CR1 (C-X3-C Motif Chemokine Receptor 1) is a Protein Coding gene. Diseases associated with CX3CR1 include Macular Degeneration, Age-Related, 12 and Human Immunodeficiency Virus Type 1. Among its related pathways are Akt Signaling and Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include G-protein coupled receptor activity and chemokine receptor activity. An important paralog of this gene is CCR4.
UniProtKB/Swiss-Prot for CX3CR1 Gene
-
Receptor for the CX3C chemokine fractalkine (CX3CL1); binds to CX3CL1 and mediates both its adhesive and migratory functions (PubMed:9390561, PubMed:23125415). Acts as coreceptor with CD4 for HIV-1 virus envelope protein (in vitro) (PubMed:9726990). Isoform 2 and isoform 3 seem to be more potent HIV-1 coreceptors than isoform 1 (PubMed:14607932).
Additional gene information for CX3CR1 Gene
- Monarch Initiative
- Search for CX3CR1 at DataMed
- Search for CX3CR1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CX3CR1 Gene
Genomics for CX3CR1 Gene
GeneHancer (GH) Regulatory Elements for CX3CR1 Gene
Promoters and enhancers for CX3CR1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around CX3CR1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CX3CR1 gene promoter:
-
- PPAR-gamma2
- PPAR-gamma1
- Bach1
- HFH-1
- Brachyury
- GATA-1
- FOXJ2
- FOXJ2 (long isoform)
- AREB6
- RSRFC4
Regulatory Element Products
Genomic Locations for CX3CR1 Gene
Genomic Locations for CX3CR1 Gene
- chr3:39,263,494-39,281,735
- (GRCh38/hg38)
- Size:
- 18,242 bases
- Orientation:
- Minus strand
- chr3:39,304,985-39,323,226
- (GRCh37/hg19)
- Size:
- 18,242 bases
- Orientation:
- Minus strand
Genomic View for CX3CR1 Gene
Genes around CX3CR1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 3p22.2 by Entrez Gene
- 3p22.2 by HGNC
- 3p22.2 by Ensembl
CX3CR1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CX3CR1 Gene
Proteins for CX3CR1 Gene
-
Protein details for CX3CR1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P49238-CX3C1_HUMAN
- Recommended name:
- CX3C chemokine receptor 1
- Protein Accession:
- P49238
- A0N0N6
- B2R5Z4
- J3KP17
Protein attributes for CX3CR1 Gene
- Size:
- 355 amino acids
- Molecular mass:
- 40396 Da
- Quaternary structure:
-
- Interacts with human respiratory syncytial virus (HRSV) protein G; this interaction modulates host immune response. Interacts with HIV-1 envelope polyprotein gp160. Found in a ternary complex with CX3CL1 and ITGAV:ITGB3 or ITGA4:ITGB1 (PubMed:23125415).
Protein Expression for CX3CR1 Gene
Post-translational modifications for CX3CR1 Gene
- This protein is not N-glycosylated which is unusual for G-protein-coupled receptors.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for CX3CR1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for CX3CR1 (CX3CR1)
-
Custom Antibody ServicesOriGene Antibodies for CX3CR1
- Novus Biologicals Antibodies for CX3CR1
-
Abcam antibodies for CX3CR1
- Invitrogen Antibodies for CX3CR1 (AFLGC-CX3CR1)
- antibodies-online: Search results for 193 available CX3CR1 Antibodies ranked by validation data
- Compare Top CX3CR1 Antibodies
-
Recommended
- 108 WB Antibodies (anti-human)
- 32 FACS Antibodies (anti-human)
- 9 IHC (p) Antibodies (anti-human)
- 5 IHC Antibodies (anti-human)
- 3 IF Antibodies (anti-human)
- 2 BCA Antibodies (anti-human)
- 2 ICFC Antibodies (anti-human)
- 1 MA Antibody (anti-human)
- 39 WB Antibodies (anti-mouse)
- 21 FACS Antibodies (anti-mouse)
- 4 ICFC Antibodies (anti-mouse)
- 2 IF Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- 40 WB Antibodies (anti-rat)
- 13 FACS Antibodies (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
- GeneTex CX3CR1 Antibody for CX3CR1
-
Custom Antibody ServicesProSci Antibodies for CX3CR1
-
Santa Cruz Biotechnology (SCBT) Antibodies for CX3CR1
- Sino Biological Antibodies for CX3CR1
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for CX3CR1
- Origene Custom Protein Services for CX3CR1
- Search GeneTex for Proteins for CX3CR1
-
Abcam proteins for CX3CR1
Assay Products
No data available for DME Specific Peptides for CX3CR1 Gene
Domains & Families for CX3CR1 Gene
Gene Families for CX3CR1 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- G-protein coupled receptors
- Plasma proteins
- Potential drug targets
- Predicted membrane proteins
Protein Domains for CX3CR1 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for CX3CR1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P49238- Family:
-
- Belongs to the G-protein coupled receptor 1 family.
Function for CX3CR1 Gene
Molecular function for CX3CR1 Gene
- UniProtKB/Swiss-Prot Function:
- Receptor for the CX3C chemokine fractalkine (CX3CL1); binds to CX3CL1 and mediates both its adhesive and migratory functions (PubMed:9390561, PubMed:23125415). Acts as coreceptor with CD4 for HIV-1 virus envelope protein (in vitro) (PubMed:9726990). Isoform 2 and isoform 3 seem to be more potent HIV-1 coreceptors than isoform 1 (PubMed:14607932).
- GENATLAS Biochemistry:
- fractalkine receptor CX3CR1,expressed in T lymphocytes,polynuclear,G protein coupled receptor superfamily,mediating leukocyte migration and adhesion
Phenotypes From GWAS Catalog for CX3CR1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004871 | obsolete signal transducer activity | IEA | -- |
| GO:0004896 | cytokine receptor activity | IEA | -- |
| GO:0004930 | G-protein coupled receptor activity | IEA | -- |
| GO:0004950 | chemokine receptor activity | TAS | 10754298 |
| GO:0005515 | protein binding | IPI | 9931005 |
Phenotypes for CX3CR1 Gene
- MGI mutant phenotypes for CX3CR1:
-
inferred from 7 alleles
- cardiovascular system phenotype
- pigmentation phenotype
- vision/eye phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- no phenotypic analysis
- integument phenotype
- mortality/aging
- cellular phenotype
- muscle phenotype
- reproductive system phenotype
- normal phenotype
- renal/urinary system phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for CX3CR1:
-
- Decreased viability ratio
- Increased shRNA abundance (Z-score > 2)
- Negative genetic interaction between PTEN-/- and PTEN+/+
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Decreased shRNA abundance (Z-score < -2)
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased hepcidin::fluc mRNA expression
- Increased cell number in S
- Increased Sindbis virus (SINV) infection
- Increased transferrin (TF) endocytosis
- Synthetic lethal with MLN4924 (a NAE inhibitor)
Animal Models for CX3CR1 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for CX3CR1
- Cyagen custom Knockout/knockin (KOKI) mouse models for CX3CR1
-
CRISPR Products
-
OriGene CRISPR knockouts for CX3CR1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CX3CR1
- genomics-online: gRNA clones - Search results for 99 available CX3CR1 gene related products
- Overview of 99 available CX3CR1 gene related products
- Applied Biological Materials CRISPR for CX3CR1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CX3CR1
- GenScript: Design CRISPR guide RNA sequences for CX3CR1
miRNA for CX3CR1 Gene
- miRTarBase miRNAs that target CX3CR1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CX3CR1
- Browse OriGene Inhibitory RNA Products For CX3CR1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CX3CR1
- genomics-online: shRNA clones - Search results for 99 available CX3CR1 gene related products
- Overview of 99 available CX3CR1 gene related products
Clone Products
-
OriGene ORF clones in human for CX3CR1
- RC207022
- RC207022L1
- RC207022L2
- RC207022L3
- RC207022L4
- RC229930
- RC229930L1
- RC229930L2
- RC229930L3
- RC229930L4
- RC229931
- RC229931L1
- RC229931L2
- RC229931L3
- RC229931L4
- RC229977
- RC229977L1
- RC229977L2
- RC229977L3
- RC229977L4
- RC507022
- RG207022
- RG229930
- RG229931
- RG229977
- RC207022L1V
- RC207022L2V
- RC207022L3V
- RC207022L4V
- RC229930L1V
- RC229930L2V
- RC229930L3V
- RC229930L4V
- RC229931L1V
- RC229931L2V
- RC229931L3V
- RC229931L4V
- RC229977L1V
- RC229977L2V
- RC229977L3V
- RC229977L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CX3CR1
- Addgene plasmids for CX3CR1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CX3CR1
- Applied Biological Materials Clones for CX3CR1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for CX3CR1
Cell Line Products
-
Horizon Cell Lines for CX3CR1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CX3CR1 Gene
Localization for CX3CR1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CX3CR1 Gene
- Cell membrane; Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 2 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| cytosol | 1 |
| lysosome | 1 |
- Nucleus (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA | -- |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | TAS | 9390561 |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for CX3CR1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Peptide ligand-binding receptors |
.34
|
|
| 2 | Akt Signaling |
.60
.60
|
|
| 3 | CCR5 Pathway in Macrophages | ||
| 4 | PEDF Induced Signaling |
.47
|
|
| 5 | Chemokine Superfamily Pathway: Human/Mouse Ligand-Receptor Interactions | ||
Pathways by source for CX3CR1 Gene
2 BioSystems pathways for CX3CR1 Gene
6 Reactome pathways for CX3CR1 Gene
2 KEGG pathways for CX3CR1 Gene
6 R&D Systems pathways for CX3CR1 Gene
- A-beta Pathways: Uptake and Degradation
- Chemokine Superfamily Pathway: Human/Mouse Ligand-Receptor Interactions
- Dendritic Cells Developmental Lineage Pathway
- Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers
- Microglia Activation During Neuroinflammation: Microglia Activation
7 Qiagen pathways for CX3CR1 Gene
Interacting Proteins for CX3CR1 Gene
Selected Interacting proteins:
ENSP00000351059
P49238-CX3C1_HUMAN
for CX3CR1 Gene via
STRING
IID
UniProtKB
GPS-Prot Interaction Network for CX3CR1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002052 | positive regulation of neuroblast proliferation | IEA | -- |
| GO:0002282 | microglial cell activation involved in immune response | IEA | -- |
| GO:0006935 | chemotaxis | TAS | 10754298 |
| GO:0006968 | cellular defense response | TAS | 10754298 |
| GO:0007155 | cell adhesion | IEA,TAS | -- |
Transcripts for CX3CR1 Gene
mRNA/cDNA for CX3CR1 Gene
- (4) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (59) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000399220 3106 bps (uc003cjl.4)
- ENST00000435290 699 bps (uc062ijs.1)
- ENST00000412814 559 bps (uc062ijt.1)
- ENST00000541347 3255 bps (uc021wwb.2)
- ENST00000542107 3215 bps (uc021wwa.2)
Unigene Clusters for CX3CR1 Gene
- Chemokine (C-X3-C motif) receptor 1:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for CX3CR1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CX3CR1
- genomics-online: gRNA clones - Search results for 99 available CX3CR1 gene related products
- Overview of 99 available CX3CR1 gene related products
- Applied Biological Materials CRISPR for CX3CR1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CX3CR1
- GenScript: Design CRISPR guide RNA sequences for CX3CR1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CX3CR1
- Browse OriGene Inhibitory RNA Products For CX3CR1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CX3CR1
- genomics-online: shRNA clones - Search results for 99 available CX3CR1 gene related products
- Overview of 99 available CX3CR1 gene related products
Clone Products
-
OriGene ORF clones in human for CX3CR1
- RC207022
- RC207022L1
- RC207022L2
- RC207022L3
- RC207022L4
- RC229930
- RC229930L1
- RC229930L2
- RC229930L3
- RC229930L4
- RC229931
- RC229931L1
- RC229931L2
- RC229931L3
- RC229931L4
- RC229977
- RC229977L1
- RC229977L2
- RC229977L3
- RC229977L4
- RC507022
- RG207022
- RG229930
- RG229931
- RG229977
- RC207022L1V
- RC207022L2V
- RC207022L3V
- RC207022L4V
- RC229930L1V
- RC229930L2V
- RC229930L3V
- RC229930L4V
- RC229931L1V
- RC229931L2V
- RC229931L3V
- RC229931L4V
- RC229977L1V
- RC229977L2V
- RC229977L3V
- RC229977L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CX3CR1
- Addgene plasmids for CX3CR1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CX3CR1
- Applied Biological Materials Clones for CX3CR1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for CX3CR1
Expression for CX3CR1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Common Dendritic Cell Precursors Hematopoietic Bone Marrow
- Natural Killer Cells Peripheral Blood
- Macrophage-Dendritic Cell Progenitors Hematopoietic Bone Marrow
- Conventional Dendritic Cells II Spleen
-
Placenta (Extraembryonic Tissues)
- Hofbauer Cells Chorionic Villus
-
Chorion (Extraembryonic Tissues)
- Hofbauer Cells Chorionic Villus
-
Limb (Muscoskeletal System)
- Limb Muscle Progenitor Cells Forelimb Myotome
-
Skeletal Muscle (Muscoskeletal System)
- Limb Muscle Progenitor Cells Forelimb Myotome
- Spleen (Hematopoietic System)
- Brain (Nervous System)
-
Spinal Cord (Nervous System)
mRNA differential expression in normal tissues according to GTEx for CX3CR1 Gene
This gene is overexpressed in Whole Blood (x13.5), Brain - Spinal cord (cervical c-1) (x6.6), and Brain - Substantia nigra (x5.5).
This gene is overexpressed in Adrenal (26.8), Lung (15.5), and Liver (13.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CX3CR1 Gene
NURSA nuclear receptor signaling pathways regulating expression of CX3CR1 Gene:
CX3CR1SOURCE GeneReport for Unigene cluster for CX3CR1 Gene:
Hs.78913mRNA Expression by UniProt/SwissProt for CX3CR1 Gene:
P49238-CX3C1_HUMAN
Tissue specificity:
Expressed in lymphoid and neural tissues.
Evidence on tissue expression from TISSUES for CX3CR1 Gene
- Nervous system(4.9)
- Blood(4.7)
- Spleen(2.7)
- Lymph node(2.6)
- Eye(2.2)
- Lung(2)
Primer Products
-
OriGene qPCR primer pairs for CX3CR1
-
OriGene qPCR primer pairs and template standards for CX3CR1
- genomics-online: primer clones - Search results for 99 available CX3CR1 gene related products
- Overview of 99 available CX3CR1 gene related products
Gene Expression Assay Products
No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CX3CR1 Gene
Orthologs for CX3CR1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CX3CR1 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CX3CR1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | CX3CR1 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Cx3cr1 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Cx3cr1 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CX3CR1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | CX3CR1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CX3CR1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CX3CR1 34 |
|
OneToOne |
- Species where no ortholog for CX3CR1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
- zebrafish (Danio rerio)
Evolution for CX3CR1 Gene
- ENSEMBL:
- Gene Tree for CX3CR1 (if available)
- TreeFam:
- Gene Tree for CX3CR1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CX3CR1: view image
Paralogs for CX3CR1 Gene
Paralogs for CX3CR1 Gene
(49) SIMAP similar genes for CX3CR1 Gene using alignment to 3 proteins:
- CX3C1_HUMAN
- C9JLM2_HUMAN
- C9JN40_HUMAN
Variants for CX3CR1 Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for CX3CR1 Gene
- CX3C1_HUMAN-P49238
- 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 | Clin | Chr 03 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs3732378 | pathogenic, protective, risk-factor, Human immunodeficiency virus type 1, rapid progression to AIDS, Coronary artery disease, resistance to, MACULAR DEGENERATION, AGE-RELATED, 12, SUSCEPTIBILITY TO | 39,265,671(-) | G/A | coding_sequence_variant, missense_variant | |
| rs3732379 | pathogenic, protective, risk-factor, Human immunodeficiency virus type 1, rapid progression to AIDS, Coronary artery disease, resistance to, MACULAR DEGENERATION, AGE-RELATED, 12, SUSCEPTIBILITY TO | 39,265,765(-) | C/T | coding_sequence_variant, missense_variant | |
| rs137854870 | not-provided, not provided | 39,265,725(-) | A/G | coding_sequence_variant, missense_variant | |
| rs1000324850 | -- | 39,280,993(-) | C/T | genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant | |
| rs1000377638 | -- | 39,268,468(-) | C/G | intron_variant |
Residual Variation Intolerance Score:
92.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
6.09;
75.37% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CX3CR1 Gene
SNP Genotyping and Copy Number Assay Products
Disorders for CX3CR1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| macular degeneration, age-related, 12 |
|
|
| human immunodeficiency virus type 1 |
|
|
| coronary heart disease 1 |
|
|
| retinal vasculitis |
|
|
| cerebrovascular disease |
|
Search CX3CR1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CX3C1_HUMAN- Macular degeneration, age-related, 12 (ARMD12) [MIM:613784]: 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. {ECO:0000269 PubMed:15208270}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Additional Disease Information for CX3CR1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for CX3CR1 Gene
Publications for CX3CR1 Gene
- Identification of CX3CR1. A chemotactic receptor for the human CX3C chemokine fractalkine and a fusion coreceptor for HIV-1. (PMID: 9726990) Combadiere C … Murphy PM (The Journal of biological chemistry 1998) 2 3 4 22 58
- Cloning, chromosomal localization, and RNA expression of a human beta chemokine receptor-like gene. (PMID: 7646814) Combadiere C … Murphy PM (DNA and cell biology 1995) 2 3 4 22 58
- Relationship between CX3CR1 genetic polymorphism and carotid atherosclerosis. (PMID: 20047517) Zhao R … Sun Y (Artificial cells, blood substitutes, and immobilization biotechnology 2010) 3 22 44 58
- Fractalkine receptor/ligand genetic variants and carotid intima-media thickness. (PMID: 19372452) Debette S … Markus HS (Stroke 2009) 3 22 44 58
- Search for an association between V249I and T280M CX3CR1 genetic polymorphisms, endothelial injury and preeclampsia: the ECLAXIR study. (PMID: 19587779) Stepanian A … ECLAXIR study group (PloS one 2009) 3 22 44 58
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