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    KIR2DS3 killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 3 [ Homo sapiens (human) ]

    Gene ID: 3808, updated on 27-Nov-2024

    Summary

    Official Symbol
    KIR2DS3provided by HGNC
    Official Full Name
    killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 3provided by HGNC
    Primary source
    HGNC:HGNC:6335
    See related
    MIM:604954; AllianceGenome:HGNC:6335
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NKAT7
    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

    See KIR2DS3 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_10) NT_187636.1 (150177..164580, complement)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_14) NT_187640.1 (105638..120041, complement)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_15) NT_187641.1 (49535..63939, complement)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_22) NT_187670.1 (37647..52051, complement)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_27) NT_187675.1 (81170..95573)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (PATCHES) NW_016107303.1 (146083..160488)

    NT_187636.1Genomic 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_187640.1Genomic 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_187641.1Genomic 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

    NT_187670.1Genomic 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

    NT_187675.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 2 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 pseudogene 1 Neighboring gene uncharacterized LOC101928804 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1

    NW_016107303.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin-like receptor 3DS1-like 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 pseudogene 1-like Neighboring gene killer cell immunoglobulin-like receptor 2DL1-like

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cellular defense response TAS
    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
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    killer cell immunoglobulin-like receptor 2DS3
    Names
    MHC class I NK cell receptor
    NKAT-7
    killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3
    natural killer cell inhibitory receptor
    natural killer-associated transcript 7

    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
      58673..73028
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_012313.2NP_036445.1  killer cell immunoglobulin-like receptor 2DS3 precursor

      See identical proteins and their annotated locations for NP_036445.1

      Status: REVIEWED

      Source sequence(s)
      GU182347
      UniProtKB/Swiss-Prot
      O00644, Q14952
      UniProtKB/TrEMBL
      A0A8H2NLG1, A0A8H2NLG2, A0A8H2NLH9, A0A8H2NLJ1, A0A8H2NM07, A0A8H2NMJ2, A0A8H2NNC3, A0A8H2NND1, A0A8H2NVJ5, A0A8H2RGV1, A0A8H2RQ18, A0A8H2RRD4, K7QT50
      Conserved Domains (2) summary
      cd00096
      Location:2933
      Ig; Ig strand A [structural motif]
      cl11960
      Location:28122
      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
      146083..160488
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_10

    Genomic

    1. NT_187636.1 Reference GRCh38.p14 ALT_REF_LOCI_10

      Range
      150177..164580 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_14

    Genomic

    1. NT_187640.1 Reference GRCh38.p14 ALT_REF_LOCI_14

      Range
      105638..120041 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_15

    Genomic

    1. NT_187641.1 Reference GRCh38.p14 ALT_REF_LOCI_15

      Range
      49535..63939 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333436.1XP_054189411.1  killer cell immunoglobulin-like receptor 2DS3 isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_22

    Genomic

    1. NT_187670.1 Reference GRCh38.p14 ALT_REF_LOCI_22

      Range
      37647..52051 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333453.1XP_054189428.1  killer cell immunoglobulin-like receptor 2DS3 isoform X2

    Reference GRCh38.p14 ALT_REF_LOCI_27

    Genomic

    1. NT_187675.1 Reference GRCh38.p14 ALT_REF_LOCI_27

      Range
      81170..95573
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)