KLRC4 killer cell lectin like receptor C4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KLRC4provided by HGNC
Official Full Name: killer cell lectin like receptor C4provided by HGNC
Primary source: HGNC:HGNC:6377
See related: Ensembl:ENSG00000183542 MIM:602893; AllianceGenome:HGNC:6377
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: NKG2F; NKG2-F
Summary: Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. This gene is a member of the NKG2 group of genes that are expressed primarily in natural killer (NK) cells. These family members encode transmembrane proteins that are characterized by a type II membrane orientation (have an extracellular C-terminus) and the presence of a C-type lectin domain. This family member is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK cells. Read-through transcription exists between this gene and the downstream KLRK1 (killer cell lectin-like receptor subfamily K, member 1) family member. [provided by RefSeq, Dec 2010]
Expression: Broad expression in spleen (RPKM 6.6), lymph node (RPKM 3.0) and 17 other tissues See more
Orthologs: all
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Genomic context

Location:: 12p13.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (10407384..10409757, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (10294201..10296574, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (10559983..10562356, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel Association of KLRC4-KLRK1 Gene Polymorphisms with Susceptibility and Progression of Antithyroid Drug-Induced Agranulocytosis.
Title: Novel Association of KLRC4-KLRK1 Gene Polymorphisms with Susceptibility and Progression of Antithyroid Drug-Induced Agranulocytosis.
Screening for the Biomarkers Associated with Myocardial Infarction by Bioinformatics Analysis.
Title: Screening for the Biomarkers Associated with Myocardial Infarction by Bioinformatics Analysis.
This study demonstrates that the MBL2/rs1800450 and KLRC4/rs2617170 are susceptibility factors for Behcet's disease in a Chinese Han population.
Title: Genetic polymorphisms of C-type lectin receptors in Behcet's disease in a Chinese Han population.
CCR1, KLRC4, IL12A-AS1, STAT4, and ERAP1 are bona fide susceptibility genes for Behcet's disease.
Title: Brief report: association of CCR1, KLRC4, IL12A-AS1, STAT4, and ERAP1 With Behçet's disease in Iranians.
NKG2F was expressed on surface of human blood NK cells, and may be up-regulated at mRNA level and protein level after IL-2 or IL-15 stimulation.
Title: Up-regulation of NKG2F receptor, a functionally unknown killer receptor, of human natural killer cells by interleukin-2 and interleukin-15.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association of NKG2D genetic polymorphism with susceptibility to chronic hepatitis B in a Han Chinese population.
NKG2F is expressed in NK cells and can associate with DAP12.
Title: Human NKG2F is expressed and can associate with DAP12.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association analysis identifies new susceptibility loci for Beh&#x000e7;et's disease and epistasis between HLA-B*51 and ERAP1. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G42648 (e-PCR)
- UniSTS:94548

G17638 (e-PCR)
- UniSTS:26582

Readthrough KLRC4-KLRK1

Readthrough gene: KLRC4-KLRK1, Included gene: KLRK1

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables transmembrane signaling receptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in positive regulation of natural killer cell mediated cytotoxicity	IBA Inferred from Biological aspect of Ancestor more info
involved_in stimulatory C-type lectin receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: NKG2-F type II integral membrane protein

Names: NK cell receptor F; NKG2-F-activating NK receptor; killer cell lectin-like receptor subfamily C, member 4; natual killer cell group 2-F

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.

mRNA and Protein(s)

NM_013431.2 → NP_038459.1 NKG2-F type II integral membrane protein

See identical proteins and their annotated locations for NP_038459.1

Status: REVIEWED

Source sequence(s)

AJ001683

Consensus CDS

CCDS8624.1

UniProtKB/Swiss-Prot

O43908, O60851

UniProtKB/TrEMBL

H3BQV0

Related

ENSP00000310216.1, ENST00000309384.3

Conserved Domains (1) summary

cl02432
Location:120 → 143

CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain