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    KIR2DS5 killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 5 [ Homo sapiens (human) ]

    Gene ID: 3810, updated on 2-Nov-2024

    Summary

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    Official Symbol
    KIR2DS5provided by HGNC
    Official Full Name
    killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 5provided by HGNC
    Primary source
    HGNC:HGNC:6337
    See related
    MIM:604956; AllianceGenome:HGNC:6337
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NKAT9; CD158G
    Summary
    Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]
    Annotation information
    Annotation category: only annotated on alternate loci and patches unit in reference assembly
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    Genomic context

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    See KIR2DS5 in Genome Data Viewer
    Location:
    19q13.4
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_35) NT_113949.2 (29858..44878, complement)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_18) NT_187644.1 (36929..51949, complement)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_20) NT_187668.1 (105956..120932, complement)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_31) NT_187684.1 (117552..132589, complement)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_33) NT_187686.1 (116409..131427, complement)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_2) NW_003571055.2 (462371..477391)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (PATCHES) NW_016107303.1 (251523..266543)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 (PATCHES) NW_003571055.1 (462370..477390)

    NT_187644.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5A Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 1

    NW_003571055.2Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5A Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 1 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2

    NT_187668.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1 Neighboring gene uncharacterized LOC101928804 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains pseudogene 1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5B Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 2

    NT_187684.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1 Neighboring gene uncharacterized LOC101928804 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains pseudogene 1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5B Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 3

    NT_187686.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1 Neighboring gene uncharacterized LOC101928804 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains pseudogene 1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5B Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 2

    NT_113949.2Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5A Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 1

    NW_016107303.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 1 Neighboring gene killer cell immunoglobulin-like receptor 2DL5A Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 1 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Discovery of two novel variants of KIR2DS5 reveals this gene to be a common component of human KIR 'B' haplotypes. Vilches C, et al. Tissue Antigens, 2000 Nov. PMID 11144295
    2. Killer cell immunoglobulin-like receptor gene polymorphisms predispose susceptibility to Epstein-Barr virus associated hemophagocytic lymphohistiocytosis in Chinese children. Qiang Q, et al. Microbiol Immunol, 2012 Jun. PMID 22376216
    3. Investigation of KIR gene frequencies in type 1 diabetes mellitus. Middleton D, et al. Hum Immunol, 2006 Dec. PMID 17174747
    4. Activating KIR2DS5 receptor is a risk for thyroid cancer. Ashouri E, et al. Hum Immunol, 2012 Oct. PMID 22836040
    5. Allelic variation of killer cell immunoglobulin-like receptor 2DS5 impacts glycosylation altering cell surface expression levels. Steiner NK, et al. Hum Immunol, 2014 Feb. PMID 24269691, Free PMC Article

    See all (112) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The novel role of activating receptor KIR2DS5 in preeclampsia.
      Title: The novel role of activating receptor KIR2DS5 in preeclampsia.
    2. Association of KIR2DL5, KIR2DS5, and KIR2DS1 allelic variation and atopic dermatitis.
      Title: Association of KIR2DL5, KIR2DS5, and KIR2DS1 allelic variation and atopic dermatitis.
    3. Positive association of Bx genotype, KIR2L5, KIR2DS5 and full-length KIR2DS4 with the risk of meningioma.
      Title: Positive association of Bx genotype, KIR2L5, KIR2DS5 and full-length KIR2DS4 with the risk of meningioma.
    4. Study findings determined the detrimental impact of KIR2DS1, 2DS5, 3DS1, 2DL5 and CxT4 genotype on genetic predisposition to head and neck squamous cell carcinoma in Iranians.
      Title: KIR2DS1, 2DS5, 3DS1 and KIR2DL5 are associated with the risk of head and neck squamous cell carcinoma in Iranians.
    5. KIR2DS5 gene may be protective against hypertension.
      Title: Association between killer cell immunoglobulin-like receptor 2DS5 gene with essential hypertension in the Chinese Han patients.
    6. study compared KIR gene repertoire of HIV-1 positive with exposed uninfected (EU)) infants to elucidate its association with transmission; results revealed presence of significantly high frequencies of activating gene KIR 2DS5 and inhibitory gene KIR 2DL3 in EU infants as compared to HIV-1 positive infants
      Title: Diversity in KIR gene repertoire in HIV-1 exposed infected and uninfected infants: A study from India.
    7. Data show that KIR2DL5 receptor, KIR2DS1 protein, KIR2DS5 protein and KIR3DS1 receptors were all significantly associated with high viral load.
      Title: Killer immunoglobulin-like receptor gene repertoire influences viral load of primary human cytomegalovirus infection in renal transplant patients.
    8. The presence ofKIR2DS5 reduced the risk of endometriosis if a female possessed alleles from group C2 of HLA-C.
      Title: KIR2DS5 in the presence of HLA-C C2 protects against endometriosis.
    9. The genes KIR2DL5, KIR2DS3 and KIR2DS5 were present in a significantly higher proportion of individuals in the asymptomatic control group than in the malaria cases.
      Title: Killer-cell immunoglobulin-like receptors and falciparum malaria in southwest Nigeria.
    10. The presence of KIR2DS2/2DL2 with KIR2DS5 abrogated the risk of KIR2DS2/2DL2 and the protective benefit of KIR2DS5.
      Title: The presence of KIR2DS5 confers protection against adult immune thrombocytopenia.
    Submit: New GeneRIF Correction See all GeneRIFs (35)

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables HLA-C specific inhibitory MHC class I receptor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in immune response NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in immune response-regulating signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    killer cell immunoglobulin-like receptor 2DS5
    Names
    CD158 antigen-like family member G
    NKAT-9
    killer Ig receptor
    killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5
    natural killer cell inhibitory receptor
    natural killer-associated transcript 9

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_005994.1 

      Range
      164970..179990
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014513.3 → NP_055328.2  killer cell immunoglobulin-like receptor 2DS5 precursor

      See identical proteins and their annotated locations for NP_055328.2

      Status: VALIDATED

      Source sequence(s)
      GU182355
      UniProtKB/Swiss-Prot
      A0A0C4ZMZ1, Q14953
      UniProtKB/TrEMBL
      A0A1B5BA18, A0A7D4Y677, Q6H2G4
      Conserved Domains (2) summary
      cd00096
      Location:29 → 33
      Ig; Ig strand A [structural motif]
      cl11960
      Location:28 → 122
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107303.1 Reference GRCh38.p14 PATCHES

      Range
      251523..266543
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NW_003571055.2 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      462371..477391
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330167.1 → XP_054186142.1  killer cell immunoglobulin-like receptor 2DS5 isoform X2

    2. XM_054330168.1 → XP_054186143.1  killer cell immunoglobulin-like receptor 2DS5 isoform X3

    3. XM_054330166.1 → XP_054186141.1  killer cell immunoglobulin-like receptor 2DS5 isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_18

    Genomic

    1. NT_187644.1 Reference GRCh38.p14 ALT_REF_LOCI_18

      Range
      36929..51949 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333445.1 → XP_054189420.1  killer cell immunoglobulin-like receptor 2DS5 isoform X6

    2. XM_054333444.1 → XP_054189419.1  killer cell immunoglobulin-like receptor 2DS5 isoform X5

    3. XM_054333443.1 → XP_054189418.1  killer cell immunoglobulin-like receptor 2DS5 isoform X4

    Reference GRCh38.p14 ALT_REF_LOCI_20

    Genomic

    1. NT_187668.1 Reference GRCh38.p14 ALT_REF_LOCI_20

      Range
      105956..120932 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_31

    Genomic

    1. NT_187684.1 Reference GRCh38.p14 ALT_REF_LOCI_31

      Range
      117552..132589 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333496.1 → XP_054189471.1  killer cell immunoglobulin-like receptor 2DS5 isoform X8

    2. XM_054333495.1 → XP_054189470.1  killer cell immunoglobulin-like receptor 2DS5 isoform X7

    Reference GRCh38.p14 ALT_REF_LOCI_33

    Genomic

    1. NT_187686.1 Reference GRCh38.p14 ALT_REF_LOCI_33

      Range
      116409..131427 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_35

    Genomic

    1. NT_113949.2 Reference GRCh38.p14 ALT_REF_LOCI_35

      Range
      29858..44878 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333506.1 → XP_054189481.1  killer cell immunoglobulin-like receptor 2DS5 isoform X11

    2. XM_054333505.1 → XP_054189480.1  killer cell immunoglobulin-like receptor 2DS5 isoform X10

    3. XM_054333504.1 → XP_054189479.1  killer cell immunoglobulin-like receptor 2DS5 isoform X9

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14953.2 GenPept UniProtKB/Swiss-Prot:Q14953

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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