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    KIR2DS2 killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 2 [ Homo sapiens (human) ]

    Gene ID: 100132285, updated on 10-Dec-2024

    Summary

    Official Symbol
    KIR2DS2provided by HGNC
    Official Full Name
    killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 2provided by HGNC
    Primary source
    HGNC:HGNC:6334
    See related
    MIM:604953; AllianceGenome:HGNC:6334
    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
    NKAT5; cl-49; CD158J; CD158b; NKAT-5; 183ActI; KIR2DL1; KIR-2DS2
    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. This gene represents a haplotype-specific family member that encodes a protein with a short cytoplasmic tail. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
    Annotation information
    Annotation category: only annotated on alternate loci and patches unit in reference assembly
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    Genomic context

    See KIR2DS2 in Genome Data Viewer
    Location:
    19q13.4
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_35) NT_113949.2 (122955..137288, complement)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_10) NT_187636.1 (194387..208721, complement)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_12) NT_187638.1 (102583..116917, complement)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_14) NT_187640.1 (149814..164148, complement)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_16) NT_187642.1 (101103..115438, complement)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_18) NT_187644.1 (130021..144356, complement)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_20) NT_187668.1 (150766..165100, complement)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_22) NT_187670.1 (130109..144444, complement)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_27) NT_187675.1 (37026..51360)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_29) NT_187677.1 (29469..43805)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_33) NT_187686.1 (161263..175597, complement)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_8) NW_003571061.2 (464529..478864)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (PATCHES) NW_016107312.1 (124734..139068, complement)

    NT_187636.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 3 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5B Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3 Neighboring gene leukocyte immunoglobulin-like receptor pseudogene 2

    NT_187638.1Genomic Context describing neighboring genes Neighboring gene putative killer cell immunoglobulin-like receptor like protein KIR3DP1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 2 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3 Neighboring gene leukocyte immunoglobulin-like receptor pseudogene 2

    NT_187640.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 3 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5B Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3 Neighboring gene leukocyte immunoglobulin-like receptor pseudogene 2

    NT_187642.1Genomic Context describing neighboring genes Neighboring gene putative killer cell immunoglobulin-like receptor like protein KIR3DP1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 2 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3 Neighboring gene leukocyte immunoglobulin-like receptor pseudogene 2

    NT_187644.1Genomic Context describing neighboring genes Neighboring gene putative killer cell immunoglobulin-like receptor like protein KIR3DP1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 2 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3 Neighboring gene leukocyte immunoglobulin-like receptor pseudogene 2

    NT_187668.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 5 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5B Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3 Neighboring gene leukocyte immunoglobulin-like receptor pseudogene 2

    NT_187670.1Genomic Context describing neighboring genes Neighboring gene putative killer cell immunoglobulin-like receptor like protein KIR3DP1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:55246834-55248033 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3 Neighboring gene leukocyte immunoglobulin-like receptor pseudogene 2

    NT_187675.1Genomic Context describing neighboring genes Neighboring gene leukocyte immunoglobulin-like receptor pseudogene 2 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3 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 3

    NT_187677.1Genomic Context describing neighboring genes Neighboring gene leukocyte immunoglobulin-like receptor pseudogene 2 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 2 Neighboring gene putative killer cell immunoglobulin-like receptor like protein KIR3DP1

    NT_187686.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 5 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5B Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3 Neighboring gene leukocyte immunoglobulin-like receptor pseudogene 2

    NT_113949.2Genomic Context describing neighboring genes Neighboring gene putative killer cell immunoglobulin-like receptor like protein KIR3DP1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 2 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3 Neighboring gene leukocyte immunoglobulin-like receptor pseudogene 2

    NW_003571061.2Genomic Context describing neighboring genes Neighboring gene leukocyte immunoglobulin-like receptor pseudogene 2 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 2 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains pseudogene 1

    NW_016107312.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin-like receptor 2DS5 Neighboring gene killer cell immunoglobulin-like receptor 2DL5A Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC120018, MGC120020, MGC149477, MGC149478, 1060P11.9.2

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transmembrane signaling receptor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    killer cell immunoglobulin-like receptor 2DS2
    Names
    CD158 antigen-like family member J
    KIR2DS2 Killer-cell Immunoglobulin-like Receptor
    MHC class I NK cell receptor
    NK receptor 183 ActI
    killer cell immunoglobulin-like receptor KIR2DS2
    killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2
    killer-cell Ig-like receptor
    killer-cell immunoglobulin-like receptor two domains short tail 2 protein
    natural killer associated transcript 5
    natural killer cell inhibitory receptor
    p58 killer cell inhibitory receptor KIR-K7a
    p58 natural killer cell receptor clone CL-49

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      14509..28820
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001291695.1NP_001278624.1  killer cell immunoglobulin-like receptor 2DS2 isoform b precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in its 3' terminal exon, and it thus differs in the 3' coding region, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is longer than isoform a.
      Source sequence(s)
      BC108917, FR750994, L41347
      UniProtKB/TrEMBL
      A0A1W2PSB7, Q32MZ1
      Conserved Domains (2) summary
      cd05711
      Location:28122
      Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI
      cl11960
      Location:128216
      Ig; Immunoglobulin domain
    2. NM_001291696.1NP_001278625.1  killer cell immunoglobulin-like receptor 2DS2 isoform c precursor

      See identical proteins and their annotated locations for NP_001278625.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (c, also known as nkat5-delta-Ig1) that is shorter than isoform a.
      Source sequence(s)
      FR750994, L41347, L76668
      UniProtKB/TrEMBL
      A0A1W2PNX5, Q14950
      Conserved Domains (1) summary
      cl11960
      Location:28116
      Ig; Immunoglobulin domain
    3. NM_001291700.1NP_001278629.1  killer cell immunoglobulin-like receptor 2DS2 isoform d precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two alternate in-frame exons that encompass parts of the 5' and central coding regions, compared to variant 1. The encoded isoform (d) is shorter than isoform a.
      Source sequence(s)
      AF074087, FR750994, L41347
      UniProtKB/TrEMBL
      O75579
    4. NM_001291701.1NP_001278630.1  killer cell immunoglobulin-like receptor 2DS2 isoform e precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (e) that is shorter than isoform a.
      Source sequence(s)
      AJ002104, FR750994, L41347
      UniProtKB/TrEMBL
      A0A0G2JPR7, O43755
      Conserved Domains (2) summary
      cd05711
      Location:28122
      Ig2_LILR_KIR_like; Second immunoglobulin (Ig)-like domain found in Leukocyte Ig-like receptors, natural and similar domains
      cl11960
      Location:128216
      Ig; Immunoglobulin domain
    5. NM_012312.5NP_036444.1  killer cell immunoglobulin-like receptor 2DS2 isoform a precursor

      See identical proteins and their annotated locations for NP_036444.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform a.
      Source sequence(s)
      CU467816
      UniProtKB/Swiss-Prot
      P43631, Q14955, Q6H2G9
      UniProtKB/TrEMBL
      A0A109R3B6, A0A2R4FYK5, A0A7D5BR21, D0UWM7, K7R1S5
      Conserved Domains (3) summary
      cd00096
      Location:129133
      Ig; Ig strand A [structural motif]
      cd05711
      Location:28122
      IgC2_D2_LILR_KIR_like; Second immunoglobulin (Ig)-like domain found in Leukocyte Ig-like receptors, Natural killer inhibitory receptors (KIRs) and similar domains; member of Immunoglobulin Constant-2 set of IgSF domains
      cl11960
      Location:128216
      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_016107312.1 Reference GRCh38.p14 PATCHES

      Range
      124734..139068 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_8

    Genomic

    1. NW_003571061.2 Reference GRCh38.p14 ALT_REF_LOCI_8

      Range
      464529..478864
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333511.1XP_054189486.1  killer cell immunoglobulin-like receptor 2DS2 isoform X2

      UniProtKB/TrEMBL
      Q9UPI8

    Reference GRCh38.p14 ALT_REF_LOCI_10

    Genomic

    1. NT_187636.1 Reference GRCh38.p14 ALT_REF_LOCI_10

      Range
      194387..208721 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_12

    Genomic

    1. NT_187638.1 Reference GRCh38.p14 ALT_REF_LOCI_12

      Range
      102583..116917 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
      149814..164148 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_16

    Genomic

    1. NT_187642.1 Reference GRCh38.p14 ALT_REF_LOCI_16

      Range
      101103..115438 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_18

    Genomic

    1. NT_187644.1 Reference GRCh38.p14 ALT_REF_LOCI_18

      Range
      130021..144356 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_20

    Genomic

    1. NT_187668.1 Reference GRCh38.p14 ALT_REF_LOCI_20

      Range
      150766..165100 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_22

    Genomic

    1. NT_187670.1 Reference GRCh38.p14 ALT_REF_LOCI_22

      Range
      130109..144444 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_27

    Genomic

    1. NT_187675.1 Reference GRCh38.p14 ALT_REF_LOCI_27

      Range
      37026..51360
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_29

    Genomic

    1. NT_187677.1 Reference GRCh38.p14 ALT_REF_LOCI_29

      Range
      29469..43805
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333483.1XP_054189458.1  killer cell immunoglobulin-like receptor 2DS2 isoform X3

      UniProtKB/TrEMBL
      Q9UPI8

    Reference GRCh38.p14 ALT_REF_LOCI_33

    Genomic

    1. NT_187686.1 Reference GRCh38.p14 ALT_REF_LOCI_33

      Range
      161263..175597 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
      122955..137288 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)