KLRC4-KLRK1

KLRC4-KLRK1 readthrough

Basic information

Region (hg38): 12:10372353-10410146

Links

ENSG00000255819 ∙ NCBI:100528032 ∙ ∙ HGNC:48357 ∙ ∙ ∙ 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 KLRC4-KLRK1 gene.

• Inborn genetic diseases (9 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KLRC4-KLRK1 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						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)			1			1
splice region						0
non coding			8		2	10
Total	0	0	9	0	2

Variants in KLRC4-KLRK1

This is a list of pathogenic ClinVar variants found in the KLRC4-KLRK1 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-10372766-G-C			Benign (Jan 18, 2019)
12-10388791-C-T		not specified	Uncertain significance (Feb 10, 2023)
12-10388798-G-A		not specified	Uncertain significance (May 29, 2024)
12-10407672-G-C		not specified	Uncertain significance (Dec 15, 2023)
12-10407723-T-C		not specified	Uncertain significance (Mar 16, 2022)
12-10407786-C-T		not specified	Uncertain significance (May 24, 2023)
12-10408358-T-C			Benign (Aug 23, 2019)
12-10408370-A-T		not specified	Uncertain significance (Dec 27, 2023)
12-10408981-C-T		not specified	Uncertain significance (Jan 26, 2023)
12-10408993-C-G		not specified	Uncertain significance (Aug 08, 2022)
12-10409010-C-A		not specified	Uncertain significance (Mar 16, 2022)
12-10409457-T-C		not specified	Uncertain significance (Nov 07, 2022)
12-10409491-T-C		not specified	Uncertain significance (Jun 06, 2023)
12-10409511-C-G		not specified	Uncertain significance (Dec 01, 2022)
12-10409538-A-C		not specified	Uncertain significance (Oct 30, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Function as an activating and costimulatory receptor involved in immunosurveillance upon binding to various cellular stress-inducible ligands displayed at the surface of autologous tumor cells and virus-infected cells. Provides both stimulatory and costimulatory innate immune responses on activated killer (NK) cells, leading to cytotoxic activity. Acts as a costimulatory receptor for T-cell receptor (TCR) in CD8(+) T-cell-mediated adaptive immune responses by amplifying T-cell activation. Stimulates perforin-mediated elimination of ligand-expressing tumor cells. Signaling involves calcium influx, culminating in the expression of TNF-alpha. Participates in NK cell-mediated bone marrow graft rejection. May play a regulatory role in differentiation and survival of NK cells. Binds to ligands belonging to various subfamilies of MHC class I-related glycoproteins including MICA, MICB, RAET1E, RAET1G, RAET1L/ULBP6, ULBP1, ULBP2, ULBP3 (ULBP2>ULBP1>ULBP3) and ULBP4. {ECO:0000269|PubMed:10426994, ECO:0000269|PubMed:11224526, ECO:0000269|PubMed:11777960, ECO:0000269|PubMed:15240696, ECO:0000269|PubMed:19658097, ECO:0000269|PubMed:21898152, ECO:0000269|PubMed:23298206, ECO:0000269|PubMed:28559451}.
• Pathway: Malaria - Homo sapiens (human);Natural killer cell mediated cytotoxicity - Homo sapiens (human);DAP12 signaling;DAP12 interactions;Innate Immune System;Immune System;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Adaptive Immune System (Consensus)

Haploinsufficiency Scores

• ghis: 0.415

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Low	Low	Low
Primary Immunodeficiency	Low	Low	Low
Cancer	Low	Low	Low

Gene ontology

• Cellular component: integral component of membrane