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KIR2DS1 killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 1 [ Homo sapiens (human) ]

Gene ID: 3806, updated on 11-Apr-2024

Summary

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Official Symbol
KIR2DS1provided by HGNC
Official Full Name
killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 1provided by HGNC
Primary source
HGNC:HGNC:6333
See related
MIM:604952
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
p50.1; CD158H; CD158a
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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Location:
19q13.4
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_35) NT_113949.2 (13877..27891, complement)
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_10) NT_187636.1 (27414..41428, complement)
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_15) NT_187641.1 (33089..47103, complement)
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_18) NT_187644.1 (20948..34962, complement)
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_22) NT_187670.1 (21201..35215, complement)
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_27) NT_187675.1 (204323..218337)
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_2) NW_003571055.2 (479358..493372)
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_4) NW_003571057.2 (841691..855965)
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (PATCHES) NW_016107303.1 (268510..282524)
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (PATCHES) NW_016107304.1 (163160..177174)
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (PATCHES) NW_016107310.1 (193306..207320)
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 (PATCHES) NW_016107312.1 (63900..77914, complement)

NT_187636.1Genomic 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 2DS3-like Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5A

NT_187641.1Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 222, pseudogene 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 3 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5A

NT_187644.1Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 222, pseudogene 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 5 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5A

NW_003571055.2Genomic Context describing neighboring genes 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 5 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2 Neighboring gene MPRA-validated peak3560 silencer Neighboring gene Fc alpha receptor

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 3 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5A

NT_187675.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5A Neighboring gene killer cell immunoglobulin-like receptor 2DS3-like Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2 Neighboring gene RNA, U6 small nuclear 222, pseudogene

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 5 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5A

NW_003571057.2Genomic Context describing neighboring genes 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 BRD4-independent group 4 enhancer GRCh37_chr19:55275257-55276456 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains pseudogene 1 Neighboring gene uncharacterized LOC101928804 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2 Neighboring gene natural cytotoxicity triggering receptor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55431695-55432196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55432197-55432696 Neighboring gene NLR family pyrin domain containing 7

NW_016107312.1Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 222, pseudogene Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2 Neighboring gene killer cell immunoglobulin-like receptor 2DS5 Neighboring gene killer cell immunoglobulin-like receptor 2DL5A

NW_016107310.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin-like receptor 2DL5B Neighboring gene killer cell immunoglobulin-like receptor 2DS3-like Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2

NW_016107304.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5A Neighboring gene killer cell immunoglobulin-like receptor 2DS5 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2 Neighboring gene RNA, U6 small nuclear 222, pseudogene

NW_016107303.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin-like receptor 2DL5A Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 5 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. Expression of the HLA-C2-specific activating killer-cell Ig-like receptor KIR2DS1 on NK and T cells. Cognet C, et al. Clin Immunol, 2010 Apr. PMID 20093094
  2. The expression of killer cell inhibitory receptors on natural killer cells and activation status of CD4+ and CD8+ T cells in the decidua of normal and abnormal early pregnancies. Chao KH, et al. Hum Immunol, 1999 Sep. PMID 10527385
  3. Mechanisms of copy number variation and hybrid gene formation in the KIR immune gene complex. Traherne JA, et al. Hum Mol Genet, 2010 Mar 1. PMID 19959527, Free PMC Article
  4. Extracellular domain alterations impact surface expression of stimulatory natural killer cell receptor KIR2DS5. Steiner NK, et al. Immunogenetics, 2008 Nov. PMID 18682925, Free PMC Article
  5. Investigation of killer cell immunoglobulin-like receptor gene diversity, KIR2DL1 and KIR2DS1. Meenagh A, et al. Tissue Antigens, 2008 Oct. PMID 18643963

See all (100) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. KIR2DS1 and KIR2DL1-C245 Dominantly Repress NK Cell Degranulation Triggered by Monoclonal or Bispecific Antibodies, whereas Education by Uptuning Inhibitory Killer Ig-related Receptors Exerts No Advantage in Ab-dependent Cellular Cytotoxicity.
    Title: KIR2DS1 and KIR2DL1-C245 Dominantly Repress NK Cell Degranulation Triggered by Monoclonal or Bispecific Antibodies, whereas Education by Uptuning Inhibitory Killer Ig-related Receptors Exerts No Advantage in Ab-dependent Cellular Cytotoxicity.
  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. Uterine NK cells underexpress KIR2DL1/S1 and LILRB1 in reproductive failure.
    Title: Uterine NK cells underexpress KIR2DL1/S1 and LILRB1 in reproductive failure.
  4. HLA-C and KIR permutations influence chronic obstructive pulmonary disease risk.
    Title: HLA-C and KIR permutations influence chronic obstructive pulmonary disease risk.
  5. Resistance of KIR Ligand-Missing Leukocytes to NK Cells In Vivo in Patients with Acquired Aplastic Anemia.
    Title: Resistance of KIR Ligand-Missing Leukocytes to NK Cells In Vivo in Patients with Acquired Aplastic Anemia.
  6. Polymorphism in killer cell immunoglobulin-like receptors and human leukocyte antigen-c and predisposition to preeclampsia in Ethiopian pregnant women population.
    Title: Polymorphism in killer cell immunoglobulin-like receptors and human leukocyte antigen-c and predisposition to preeclampsia in Ethiopian pregnant women population.
  7. Donor KIR2DS1-Mediated Decreased Relapse and Improved Survival Depending on Remission Status at HLA-Haploidentical Transplantation with Post-Transplantation Cyclophosphamide.
    Title: Donor KIR2DS1-Mediated Decreased Relapse and Improved Survival Depending on Remission Status at HLA-Haploidentical Transplantation with Post-Transplantation Cyclophosphamide.
  8. matching of KIR2DL1, 2DS1, and 2DS2 in donors with their HLA-C ligands in recipients is associated with increased GvHD, and holds potential for selection of HSCT donors.
    Title: Prognostic role of KIR genes and HLA-C after hematopoietic stem cell transplantation in a patient cohort with acute myeloid leukemia from a consanguineous community.
  9. Higher scores of Childhood Autism Rating Scale (CARS) and Autistic Core Behavior were found in KIR2DS1-C2+/HLA-G *14bp+Autism Spectrum Disorders children (43.7 +/- 1.5, p = 0.03; 3.3 +/- 0.1, p = 0.03, respectively). These results suggested a synergistic polygenic association of KIR2DS1-HLAC2+/HLA-G *14bp+ pattern with behavioral impairment in Autism Spectrum Disorders children.
    Title: HLA-G∗14bp Insertion and the KIR2DS1-HLAC2 Complex Impact on Behavioral Impairment in Children with Autism Spectrum Disorders.
  10. we demonstrated peptide-dependent binding of the activating NK cell receptor KIR2DS1, providing new insights into the underlying mechanisms involved in KIR2DS1-related disorders.
    Title: Peptide-specific engagement of the activating NK cell receptor KIR2DS1.
Submit: New GeneRIF Correction See all GeneRIFs (59)

Variation

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See studies and variants in dbVar

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 protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transmembrane signaling receptor activity NAS
Non-traceable Author Statement
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 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 IDA
Inferred from Direct Assay
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 2DS1
Names
CD158 antigen-like family member H
KIR2DS1 Killer-cell Immunoglobulin-like Receptor
MHC class I NK cell receptor Eb6 ActI
killer cell immunoglobulin-like receptor KIRDS1
killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1
killer-cell immunoglobulin-like receptor

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
    181957..195971
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    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014512.1 → NP_055327.1  killer cell immunoglobulin-like receptor 2DS1 precursor

    See identical proteins and their annotated locations for NP_055327.1

    Status: REVIEWED

    Source sequence(s)
    AF022046
    UniProtKB/Swiss-Prot
    K7QUS8, O43471, Q14954
    UniProtKB/TrEMBL
    A0A191URI9, A0A1B5BA07, A0A1W2PQZ7, A0A7D4Y6C7, B1N8M7, Q30189
    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_2023_10

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
    268510..282524
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_016107304.1 Reference GRCh38.p14 PATCHES

    Range
    163160..177174
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_016107310.1 Reference GRCh38.p14 PATCHES

    Range
    193306..207320
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_016107312.1 Reference GRCh38.p14 PATCHES

    Range
    63900..77914 complement
    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
    479358..493372
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_4

Genomic

  1. NW_003571057.2 Reference GRCh38.p14 ALT_REF_LOCI_4

    Range
    841691..855965
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011547998.3 → XP_011546300.1  killer cell immunoglobulin-like receptor 2DS1 isoform X1

    See identical proteins and their annotated locations for XP_011546300.1

    UniProtKB/TrEMBL
    B1N8M6, B1N8M7, Q30189
    Conserved Domains (1) summary
    cl11960
    Location:28 → 122
    Ig; Immunoglobulin domain

Reference GRCh38.p14 ALT_REF_LOCI_10

Genomic

  1. NT_187636.1 Reference GRCh38.p14 ALT_REF_LOCI_10

    Range
    27414..41428 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
    33089..47103 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
    20948..34962 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
    21201..35215 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
    204323..218337
    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
    13877..27891 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14954.2 GenPept UniProtKB/Swiss-Prot:Q14954

Gene LinkOut

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Chemical Information
Molecular Biology Databases
Research Materials
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