KIR2DS4

killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 4, the group of CD molecules|Killer cell immunoglobulin like receptors

Basic information

Region (hg38): 19:54832676-54848569

Links

ENSG00000221957

∙ NCBI:3809 ∙ OMIM:604955 ∙ HGNC:6336 ∙ Uniprot:P43632 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KIR2DS4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIR2DS4 gene is commonly pathogenic or not. These statistics are base on transcript: . Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				5 clinvar		5
missense			13 clinvar	5 clinvar		18
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	13	10	0

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Receptor on natural killer (NK) cells for HLA-C alleles. Does not inhibit the activity of NK cells. {ECO:0000269|PubMed:19858347}.;
Pathway: Antigen processing and presentation - Homo sapiens (human);Natural killer cell mediated cytotoxicity - Homo sapiens (human);DAP12 interactions;Innate Immune System;Immune System (Consensus)

Gene ontology

Biological process: innate immune response
Cellular component: plasma membrane;integral component of plasma membrane
Molecular function: protein binding