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

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

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_187636.1 Genomic Context describing neighboring genes

NT_187640.1 Genomic Context describing neighboring genes

NT_187641.1 Genomic Context describing neighboring genes

NT_187670.1 Genomic Context describing neighboring genes

NT_187675.1 Genomic Context describing neighboring genes

NW_016107303.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Clinical Impact of KIR2DS3 and KIR2DL3 Genes in Neuroblastoma Patients.
Title: Clinical Impact of KIR2DS3 and KIR2DL3 Genes in Neuroblastoma Patients.
activating KIR2DS3 was associated with rapid leukocyte engraftment after hematopoietic stem cell transplantation from matched sibling
Title: The effect of killer cell immunoglobulin-like receptor genotype on outcome of hematopoietic stem cell transplantation from matched sibling.
Genotypes missing these two inhibitory KIR-HLA combinations in addition to missing activating KIRs 2DS2 and 2DS3 were more common in Vogt-Koyanagi-Harada disease (OR = 1.90, P = 0.002).
Title: KIR and HLA Genotypes Implicated in Reduced Killer Lymphocytes Immunity Are Associated with Vogt-Koyanagi-Harada Disease.
Loss of KIR2DS3 gene is associated with breast cancer.
Title: Association of the genetic diversity of killer cell immunoglobulin-like receptor genes and HLA-C ligand in Saudi women with breast cancer.
genetic polymorphism is associated with childhood acute lymphoblastic leukemia among north Indians
Title: Genetic associations of killer immunoglobulin like receptors and class I human leukocyte antigens on childhood acute lymphoblastic leukemia among north Indians.
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.
the presence of host genetic risk factors, IL28B-T and KIR2DS3 alleles, resulted in increased odds of treatment failure in these rapid virological response negative patients.
Title: Variation in both IL28B and KIR2DS3 genes influence pegylated interferon and ribavirin hepatitis C treatment outcome in HIV-1 co-infection.
Data found that the frequencies of KIR2DS1, 2DS3 and 3DS1 were significantly higher in pulmonary tuberculosis patients than in the control group.
Title: Association of killer cell immunoglobulin-like receptors with pulmonary tuberculosis in Chinese Han.
KIR2DS3 and HLA-class I alleles (-Cw*14 and -Cw*17) may play a role in the pathogenesis of the Vogt-Koyanagi-Harada disease.
Title: A study of KIR genes and HLA-C in Vogt-Koyanagi-Harada disease in Saudi Arabia.
The Natural Killer cell gene KIR2DS3 was significantly increased in patients with chronic hepatitis C virus infection.
Title: Innate immune genes synergize to predict increased risk of chronic disease in hepatitis C virus infection.

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Variation

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See studies and variants in dbVar

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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

NoName (e-PCR)
- UniSTS:481544

NoName (e-PCR)
- UniSTS:481548

NoName (e-PCR)
- UniSTS:481063

RH69059 (e-PCR)
- UniSTS:17508

NoName (e-PCR)
- UniSTS:483954

RH76182 (e-PCR)
- UniSTS:88696

NoName (e-PCR)
- UniSTS:483965

NoName (e-PCR)
- UniSTS:485865

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

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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.