This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. This protein is expressed by T cells and macrophages, and is known to be an important co-receptor for macrophage-tropic virus, including HIV, to enter host cells. Defective alleles of this gene have been associated with... See more...

Aliases for CCR5 Gene

Aliases for CCR5 Gene

  • C-C Motif Chemokine Receptor 5 2 3 5
  • CC-CKR-5 2 3 4
  • Chemokine (C-C Motif) Receptor 5 2 3
  • C-C Chemokine Receptor Type 5 3 4
  • HIV-1 Fusion Coreceptor 3 4
  • CMKBR5 3 4
  • IDDM22 2 3
  • CCR-5 3 4
  • CD195 2 3
  • CKR-5 2 3
  • CKR5 2 3
  • Chemokine (C-C Motif) Receptor 5 (Gene/Pseudogene) 2
  • C-C Motif Chemokine Receptor 5 (Gene/Pseudogene) 2
  • C-C Motif Chemokine Receptor 5 A159A 3
  • Chemokine Recptor CCR5 Delta32 3
  • Chemokine Receptor CCR5 3
  • CD195 Antigen 4
  • C-C CKR-5 4
  • Chemr13 3
  • CHEMR13 4
  • CCCKR5 3
  • CCR5 5

External Ids for CCR5 Gene

Previous HGNC Symbols for CCR5 Gene

  • CMKBR5

Previous GeneCards Identifiers for CCR5 Gene

  • GC03P045652
  • GC03P046230
  • GC03P046372
  • GC03P046386
  • GC03P046376
  • GC03P046377
  • GC03P046388
  • GC03P046389
  • GC03P046387
  • GC03P046384
  • GC03P046378
  • GC03P046379
  • GC03P046380
  • GC03P046381
  • GC03P046382

Summaries for CCR5 Gene

Entrez Gene Summary for CCR5 Gene

  • This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. This protein is expressed by T cells and macrophages, and is known to be an important co-receptor for macrophage-tropic virus, including HIV, to enter host cells. Defective alleles of this gene have been associated with the HIV infection resistance. The ligands of this receptor include monocyte chemoattractant protein 2 (MCP-2), macrophage inflammatory protein 1 alpha (MIP-1 alpha), macrophage inflammatory protein 1 beta (MIP-1 beta) and regulated on activation normal T expressed and secreted protein (RANTES). Expression of this gene was also detected in a promyeloblastic cell line, suggesting that this protein may play a role in granulocyte lineage proliferation and differentiation. This gene is located at the chemokine receptor gene cluster region. An allelic polymorphism in this gene results in both functional and non-functional alleles; the reference genome represents the functional allele. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2015]

GeneCards Summary for CCR5 Gene

CCR5 (C-C Motif Chemokine Receptor 5) is a Protein Coding gene. Diseases associated with CCR5 include West Nile Virus and Type 1 Diabetes Mellitus 22. Among its related pathways are Peptide ligand-binding receptors and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and phosphatidylinositol phospholipase C activity. An important paralog of this gene is CCR2.

UniProtKB/Swiss-Prot Summary for CCR5 Gene

  • Receptor for a number of inflammatory CC-chemokines including CCL3/MIP-1-alpha, CCL4/MIP-1-beta and RANTES and subsequently transduces a signal by increasing the intracellular calcium ion level. May play a role in the control of granulocytic lineage proliferation or differentiation.
  • (Microbial infection) Acts as a coreceptor (CD4 being the primary receptor) of human immunodeficiency virus-1/HIV-1.

Tocris Summary for CCR5 Gene

  • Chemokine CC receptors (CCRs) predominantly recognize CC chemokines. CC chemokines are distinguished by having four conserved cysteines, with the first two cysteines being adjacent to each other. There are 10 chemokine CC receptors.

Gene Wiki entry for CCR5 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCR5 Gene

Genomics for CCR5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CCR5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J046367 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 262 +0.1 126 4.7 BCLAF1 ZNF654 BCL11A REST TRIM22 CTCF RAD21 IRF4 SMC3 TEAD3 CCR5 MK280408 CCRL2 CCR1 CCR5AS LRRC2 TDGF1 CCR2
GH03J046392 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 25.7 +24.4 24388 4.8 MYC ZNF600 CEBPA ZIC2 REST CEBPB HES1 BHLHE40 MNT MAX piR-48950-118 CCRL2 CCR5 CCR1 CCR2 CCR5AS LRRC2 TDGF1
GH03J046297 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 14.4 -71.7 -71741 11.2 BCL11A TRIM22 IRF4 ZNF316 EBF1 SMARCA5 SPI1 POLR2A BATF STAT5A CCR1 CCR2 CCR5 CCRL2 TDGF1 FYCO1 LRRC2 HSALNG0025678 lnc-CCR1-1
GH03J046399 Enhancer 0.8 FANTOM5 dbSUPER 22.7 +29.5 29512 0.5 IKZF1 EHMT2 ETV1 TEAD4 ATF1 KDM1A ATF3 NFRKB ATF2 CCRL2 CCR5 CCR1 CCR2 CCR5AS piR-48950-118
GH03J046404 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 8.3 +36.5 36456 4.8 MYC IKZF1 NCOR1 ZNF592 NFIC NONO SMAD5 BHLHE40 MBD2 MNT CCRL2 CCR5AS CCR1 CCR2 RTP3 CCR5 LIMD1 LRRC2 TDGF1 PRSS45P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCR5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCR5

Top Transcription factor binding sites by QIAGEN in the CCR5 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • GATA-1
  • p53
  • STAT1
  • STAT3

Genomic Locations for CCR5 Gene

Latest Assembly
chr3:46,370,142-46,376,206
(GRCh38/hg38)
Size:
6,065 bases
Orientation:
Plus strand

Previous Assembly
chr3:46,411,633-46,417,697
(GRCh37/hg19 by Entrez Gene)
Size:
6,065 bases
Orientation:
Plus strand

chr3:46,411,633-46,417,697
(GRCh37/hg19 by Ensembl)
Size:
6,065 bases
Orientation:
Plus strand

Genomic View for CCR5 Gene

Genes around CCR5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCR5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCR5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCR5 Gene

Proteins for CCR5 Gene

  • Protein details for CCR5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51681-CCR5_HUMAN
    Recommended name:
    C-C chemokine receptor type 5
    Protein Accession:
    P51681
    Secondary Accessions:
    • O14692
    • O14693
    • O14695
    • O14696
    • O14697
    • O14698
    • O14699
    • O14700
    • O14701
    • O14702
    • O14703
    • O14704
    • O14705
    • O14706
    • O14707
    • O14708
    • O15538
    • Q9UPA4

    Protein attributes for CCR5 Gene

    Size:
    352 amino acids
    Molecular mass:
    40524 Da
    Quaternary structure:
    • Interacts with PRAF2 (PubMed:15757671). Efficient ligand binding to CCL3/MIP-1alpha and CCL4/MIP-1beta requires sulfation, O-glycosylation and sialic acid modifications. Glycosylation on Ser-6 is required for efficient binding of CCL4 (PubMed:11733580, PubMed:8663314, PubMed:8699119, PubMed:10383387). Interacts with GRK2 (PubMed:10085131). Interacts with ARRB1 and ARRB2 (PubMed:11448957, PubMed:16144840). Interacts with CNIH4 (PubMed:24405750).
    • (Microbial infection) Interacts with HIV-1 surface protein gp120.
    • (Microbial infection) May interact with human cytomegalovirus/HHV-5 protein UL78.

    Three dimensional structures from OCA and Proteopedia for CCR5 Gene

neXtProt entry for CCR5 Gene

Post-translational modifications for CCR5 Gene

  • Sulfated on at least 2 of the N-terminal tyrosines. Sulfation contributes to the efficiency of HIV-1 entry and is required for efficient binding of the chemokines, CCL3 and CCL4.
  • O-glycosylated, but not N-glycosylated. Ser-6 appears to be the major site. Also sialylated glycans present which contribute to chemokine binding. Thr-16 and Ser-17 may also be glycosylated and, if so, with small moieties such as a T-antigen.
  • Palmitoylation in the C-terminal is important for cell surface expression, and to a lesser extent, for HIV entry.
  • Phosphorylation on serine residues in the C-terminal is stimulated by binding CC chemokines especially by APO-RANTES.
  • Glycosylation at Ser6, Ser7, Thr16, and Ser17
  • Modification sites at PhosphoSitePlus

Other Protein References for CCR5 Gene

Antibodies for research

  • Abcam antibodies for CCR5

No data available for DME Specific Peptides for CCR5 Gene

Domains & Families for CCR5 Gene

Gene Families for CCR5 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • CD markers
  • Disease related genes
  • FDA approved drug targets
  • G-protein coupled receptors
  • Predicted membrane proteins

Protein Domains for CCR5 Gene

InterPro:
Blocks:
  • Chemokine receptor signature
  • C-C chemokine receptor type 5 signature

Suggested Antigen Peptide Sequences for CCR5 Gene

GenScript: Design optimal peptide antigens:
  • CC-chemokine receptor (A0A502_HUMAN)
  • CC chemokine receptor 5 (A1A490_HUMAN)
  • Chemokine receptor 5 V131F variant (B0EX00_HUMAN)
  • Chemokine receptor 5 A159V variant (B0EX01_HUMAN)
  • CCR5 chemokine receptor T143N variant (B2KIU0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P51681

UniProtKB/Swiss-Prot:

CCR5_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family.
Family:
  • Belongs to the G-protein coupled receptor 1 family.
genes like me logo Genes that share domains with CCR5: view

Function for CCR5 Gene

Molecular function for CCR5 Gene

UniProtKB/Swiss-Prot Function:
Receptor for a number of inflammatory CC-chemokines including CCL3/MIP-1-alpha, CCL4/MIP-1-beta and RANTES and subsequently transduces a signal by increasing the intracellular calcium ion level. May play a role in the control of granulocytic lineage proliferation or differentiation.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Acts as a coreceptor (CD4 being the primary receptor) of human immunodeficiency virus-1/HIV-1.
UniProtKB/Swiss-Prot Induction:
(Microbial infection) May be down-regulated by human cytomegalovirus/HHV-5 protein UL78.
GENATLAS Biochemistry:
chemokine CC,beta,receptor 5,expressed in lymphoid organs and cells,with multiple transcripts with 5' end heterogeneity and dual promoter usage,mediating macrophage-tropic strains of HIV-1 entry in CD4+ cells with a reduced risk of AIDS lymphoma in patients with the CCR5-delta 32 mutation,G protein coupled receptor superfamily

Phenotypes From GWAS Catalog for CCR5 Gene

Gene Ontology (GO) - Molecular Function for CCR5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001618 virus receptor activity IEA --
GO:0003779 actin binding IDA 12421915
GO:0004435 phosphatidylinositol phospholipase C activity TAS 8663314
GO:0004930 G protein-coupled receptor activity IEA --
GO:0004950 chemokine receptor activity TAS 10201901
genes like me logo Genes that share ontologies with CCR5: view
genes like me logo Genes that share phenotypes with CCR5: view

Animal Models for CCR5 Gene

MGI Knock Outs for CCR5:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCR5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CCR5 Gene

Localization for CCR5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCR5 Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CCR5 gene
Compartment Confidence
plasma membrane 5
endosome 5
extracellular 3
nucleus 3
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
golgi apparatus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for CCR5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS,IBA 21873635
GO:0005768 endosome IDA 10679098
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 10393923
GO:0009897 external side of plasma membrane IDA 10383387
genes like me logo Genes that share ontologies with CCR5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CCR5 Gene

Pathways & Interactions for CCR5 Gene

genes like me logo Genes that share pathways with CCR5: view

Pathways by source for CCR5 Gene

11 Qiagen pathways for CCR5 Gene
  • Akt Signaling
  • Antioxidant Action of Vitamin-C
  • Apoptotic Pathways Triggered By HIV1
  • CCR5 Pathway in Macrophages
  • Chemokine Signaling

SIGNOR curated interactions for CCR5 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CCR5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade IEP 12032188
GO:0002407 dendritic cell chemotaxis TAS 16621978
GO:0006816 calcium ion transport IDA 8699119
GO:0006935 chemotaxis TAS 10741397
GO:0006954 inflammatory response TAS,IBA 21873635
genes like me logo Genes that share ontologies with CCR5: view

Drugs & Compounds for CCR5 Gene

(120) Drugs for CCR5 Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Maraviroc Approved, Investigational Pharma Antagonist, Target Selective CCR5 antagonist,antiretroviral agent 157
Dexamethasone Approved, Investigational, Vet_approved Pharma Anti-inflammatory glucocorticoid 3149
Efavirenz Approved, Investigational Pharma Reverse transcriptase inhibitor 453
Etravirine Approved Pharma 83
Ritonavir Approved, Investigational Pharma HIV protease inhibitor 1042

(33) Additional Compounds for CCR5 Gene - From: Novoseek and IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
MRK-1
Antagonist
vMIP-II
Antagonist

(5) Tocris Compounds for CCR5 Gene

Compound Action Cas Number
DAPTA Chemokine receptor 5 (CCR5) antagonist 106362-34-9
J 113863 Potent CCR1 chemokine receptor antagonist 353791-85-2
RS 102895 hydrochloride CCR2b chemokine receptor antagonist 1173022-16-6
RS 504393 Highly selective CCR2 chemokine receptor antagonist 300816-15-3
ZK 756326 Selective, non-peptide CCR8 agonist 874911-96-3

(2) ApexBio Compounds for CCR5 Gene

Compound Action Cas Number
DAPTA 106362-34-9
Vicriviroc Malate CCR5 antagonist, orally active, second generation 541503-81-5
genes like me logo Genes that share compounds with CCR5: view

Transcripts for CCR5 Gene

mRNA/cDNA for CCR5 Gene

2 REFSEQ mRNAs :
44 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCR5

Alternative Splicing Database (ASD) splice patterns (SP) for CCR5 Gene

No ASD Table

Relevant External Links for CCR5 Gene

GeneLoc Exon Structure for
CCR5

Expression for CCR5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCR5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CCR5 Gene

This gene is overexpressed in Whole Blood (x7.9) and Spleen (x6.2).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCR5

SOURCE GeneReport for Unigene cluster for CCR5 Gene:

Hs.450802

mRNA Expression by UniProt/SwissProt for CCR5 Gene:

P51681-CCR5_HUMAN
Tissue specificity: Highly expressed in spleen, thymus, in the myeloid cell line THP-1, in the promyeloblastic cell line KG-1a and on CD4+ and CD8+ T-cells. Medium levels in peripheral blood leukocytes and in small intestine. Low levels in ovary and lung.

Evidence on tissue expression from TISSUES for CCR5 Gene

  • Blood(3.3)
  • Spleen(3.3)
  • Lymph node(3.3)
  • Intestine(2.9)
  • Nervous system(2.9)
  • Heart(2.7)
  • Kidney(2.5)
  • Lung(2.5)
  • Bone marrow(2.5)
  • Liver(2.4)
  • Skin(2.4)
  • Muscle(2)
genes like me logo Genes that share expression patterns with CCR5: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCR5 Gene

Orthologs for CCR5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCR5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CCR5 29 30
  • 99.34 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CCR5 29 30
  • 86.74 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ccr5 29 16
  • 84.19 (n)
Rat
(Rattus norvegicus)
Mammalia Ccr5 29
  • 84.09 (n)
Dog
(Canis familiaris)
Mammalia CCR5 29 30
  • 84 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 68 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 67 (a)
OneToMany
Chicken
(Gallus gallus)
Aves CCR5 30
  • 59 (a)
ManyToMany
CCR2 30
  • 56 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 57 (a)
ManyToMany
-- 30
  • 57 (a)
ManyToMany
-- 30
  • 50 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC101731980 29
  • 60.6 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100005081 29
  • 56.54 (n)
Species where no ortholog for CCR5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CCR5 Gene

ENSEMBL:
Gene Tree for CCR5 (if available)
TreeFam:
Gene Tree for CCR5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CCR5: view image
Alliance of Genome Resources:
Additional Orthologs for CCR5

Paralogs for CCR5 Gene

(71) SIMAP similar genes for CCR5 Gene using alignment to 49 proteins:

  • CCR5_HUMAN
  • A1A490_HUMAN
  • B0EX00_HUMAN
  • B0EX01_HUMAN
  • B2KIU0_HUMAN
  • B2KIU1_HUMAN
  • B2KIU2_HUMAN
  • B2KKJ9_HUMAN
  • B8LFN8_HUMAN
  • B8LFN9_HUMAN
  • B8LFP0_HUMAN
  • E7BJ57_HUMAN
  • H9MHK7_HUMAN
  • H9MHP3_HUMAN
  • H9MHP4_HUMAN
  • H9MHP5_HUMAN
  • H9MHP6_HUMAN
  • H9MHP8_HUMAN
  • H9MHP9_HUMAN
  • J7HDE9_HUMAN
  • J7HDH2_HUMAN
  • J7HDH6_HUMAN
  • J7HGK0_HUMAN
  • J7HJP1_HUMAN
  • J7HJP8_HUMAN
  • J7HKA4_HUMAN
  • L7S2Y4_HUMAN
  • O14694_HUMAN
  • Q38L21_HUMAN
  • Q3L3Q6_HUMAN
  • Q5EKM8_HUMAN
  • Q5EKM9_HUMAN
  • Q5EKN0_HUMAN
  • Q5KSY4_HUMAN
  • Q5KSY5_HUMAN
  • Q5QIN9_HUMAN
  • Q5QIP0_HUMAN
  • Q5QIP1_HUMAN
  • Q9P1T4_HUMAN
  • Q9P1T5_HUMAN
  • Q9P1T8_HUMAN
  • Q9UBJ7_HUMAN
  • Q9UBT9_HUMAN
  • Q9UN23_HUMAN
  • Q9UN24_HUMAN
  • Q9UN25_HUMAN
  • Q9UN26_HUMAN
  • Q9UN27_HUMAN
  • Q9UN28_HUMAN
genes like me logo Genes that share paralogs with CCR5: view

Variants for CCR5 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CCR5 Gene

CCR5_HUMAN-P51681
Variations in CCR5 are associated with resistance or susceptibility to immunodeficiency virus type 1 (resistance or susceptibility to HIV-1) [MIM:609423]. Variations in CCR5 gene also influence the rate of progression to AIDS after infection.
CCR5_HUMAN-P51681
Ser-60 variant, a naturally occurring mutation in a conserved residue in the first intracellular domain of CCR5, results in reduced amounts of the protein in the membrane and consequently may be associated with reduced susceptibility to infection by microbes that depend on these molecules as their receptors.
CCR5_HUMAN-P51681
Variations in CCR5 are associated with susceptibility to West Nile virus (WNV) infection [MIM:610379].

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCR5 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
992556 Uncertain Significance: West nile virus, susceptibility to; Diabetes mellitus, insulin-dependent, 22 46,373,089(+) A/T
NM_000579.4(CCR5):c.187A>T (p.Ser63Cys)
MISSENSE
rs1799987 Conflicting Interpretations, Protective: CCR5 PROMOTER POLYMORPHISM; Human immunodeficiency virus type 1, susceptibility to; Acquired immunodeficiency syndrome, delayed progression to 46,370,444(+) A/G
NM_000579.3(CCR5):c.-301+246A>G
INTRON
rs1800452 Benign: CCR5 POLYMORPHISM, ORIENTAL 2 46,373,570(+) G/Ap.Arg223Gln
NM_000579.3(CCR5):c.668G>A (p.Arg223Gln)
MISSENSE
rs1800560 Protective: Human immunodeficiency virus type 1, susceptibility to 46,373,205(+) T/A
NM_000579.3(CCR5):c.303T>A (p.Cys101Ter)
NONSENSE
rs1800940 Protective: Human immunodeficiency virus type 1, susceptibility to 46,373,082(+) G/Tp.Arg60Ser
NM_000579.3(CCR5):c.180G>T (p.Arg60Ser)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CCR5 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CCR5 Gene

Variant ID Type Subtype PubMed ID
esv3424175 CNV insertion 20981092

Variation tolerance for CCR5 Gene

Residual Variation Intolerance Score: 82% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.16; 61.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCR5 Gene

Human Gene Mutation Database (HGMD)
CCR5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCR5
Leiden Open Variation Database (LOVD)
CCR5

SNP Genotyping and Copy Number Assays for research

Disorders for CCR5 Gene

MalaCards: The human disease database

(98) MalaCards diseases for CCR5 Gene - From: OMI, CVR, GTR, COP, and GCD

Disorder Aliases PubMed IDs
west nile virus
  • west nile virus, susceptibility to
type 1 diabetes mellitus 22
  • t1d22
hepatitis c virus
  • hepatitis c virus, susceptibility to
human immunodeficiency virus infectious disease
  • hiv infections
multiple sclerosis
  • multiple sclerosis, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search CCR5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CCR5_HUMAN
  • Diabetes mellitus, insulin-dependent, 22 (IDDM22) [MIM:612522]: A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269 PubMed:19073967}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

Additional Disease Information for CCR5

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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No data available for Genatlas for CCR5 Gene

Publications for CCR5 Gene

  1. Molecular cloning and functional expression of a new human CC-chemokine receptor gene. (PMID: 8639485) Samson M … Parmentier M (Biochemistry 1996) 2 3 4 22 72
  2. The CCR5-delta32 mutation: impact on disease outcome in individuals with hepatitis C infection from a single source. (PMID: 15863470) Goulding C … Kelleher D (Gut 2005) 3 22 40 72
  3. Resequencing of the CCL5 and CCR5 genes and investigation of variants for association with diabetic nephropathy. (PMID: 20203694) Pettigrew KA … Maxwell AP (Journal of human genetics 2010) 3 22 40
  4. Chemokine polymorphisms and lymphoma: a pooled analysis. (PMID: 20038229) Bracci PM … Wiencke JK (Leukemia & lymphoma 2010) 3 22 40
  5. Regulation of CCR5 expression in human placenta: insights from a study of mother-to-child transmission of HIV in Malawi. (PMID: 20169157) Joubert BR … Meshnick SR (PloS one 2010) 3 22 40

Products for CCR5 Gene

  • Addgene plasmids for CCR5

Sources for CCR5 Gene