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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				5		5
missense			13	5		18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	10	0

Variants in KIR2DS4

This is a list of pathogenic ClinVar variants found in the KIR2DS4 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-54832771-C-G		not specified	Uncertain significance (Feb 13, 2025)
19-54832780-A-G		not specified	Likely benign (Dec 02, 2022)
19-54832788-G-A		not specified	Uncertain significance (Oct 26, 2022)
19-54832788-G-T		not specified	Uncertain significance (Jun 11, 2021)
19-54832790-C-T		not specified	Uncertain significance (Feb 12, 2025)
19-54835085-T-C		not specified	Uncertain significance (Mar 06, 2023)
19-54835093-C-A		not specified	Uncertain significance (Feb 01, 2025)
19-54837579-T-C			Likely benign (Jul 01, 2023)
19-54837612-G-T		not specified	Uncertain significance (Feb 18, 2025)
19-54837615-A-C			Likely benign (Apr 01, 2024)
19-54837626-T-C		not specified	Uncertain significance (Feb 14, 2023)
19-54837662-G-A		not specified	Likely benign (Aug 12, 2022)
19-54837669-T-G		not specified	Uncertain significance (Apr 07, 2023)
19-54837696-G-A		not specified	Uncertain significance (Jul 02, 2024)
19-54837704-A-C		not specified	Uncertain significance (Feb 14, 2023)
19-54837704-A-G		not specified	Uncertain significance (Nov 21, 2023)
19-54837705-A-G		not specified	Uncertain significance (Feb 02, 2022)
19-54837756-A-G		not specified	Uncertain significance (Dec 18, 2023)
19-54837766-T-C			Likely benign (Oct 01, 2022)
19-54837775-G-T		not specified	Uncertain significance (Nov 10, 2021)
19-54837776-A-C		not specified	Uncertain significance (Nov 01, 2022)
19-54837793-A-G			Likely benign (Dec 01, 2022)
19-54837838-G-T		not specified	Uncertain significance (Jun 11, 2021)
19-54839564-A-G			Likely benign (Apr 01, 2025)
19-54839584-C-T			Likely benign (Apr 01, 2025)

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