U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 8302, updated on 5-Mar-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See KLRC4 in Genome Data Viewer
Location:
12p13.2
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (10407384..10409757, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (10294201..10296574, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (10559983..10562356, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2598 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:10513466-10514066 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5961 Neighboring gene KLRK1 antisense RNA 1 Neighboring gene MPRA-validated peak1570 silencer Neighboring gene KLRC4-KLRK1 readthrough Neighboring gene killer cell lectin like receptor K1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:10548157-10548798 Neighboring gene killer cell lectin like receptor C3 Neighboring gene killer cell lectin like receptor C2

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Up-regulation of NKG2F receptor, a functionally unknown killer receptor, of human natural killer cells by interleukin-2 and interleukin-15. Huang H, et al. Oncol Rep, 2010 Oct. PMID 20811687
  2. Identification of the NKG2D haplotypes associated with natural cytotoxic activity of peripheral blood lymphocytes and cancer immunosurveillance. Hayashi T, et al. Cancer Res, 2006 Jan 1. PMID 16397273
  3. Human NKG2F is expressed and can associate with DAP12. Kim DK, et al. Mol Immunol, 2004 May. PMID 15140575
  4. Genetic polymorphisms of C-type lectin receptors in Behcet's disease in a Chinese Han population. Yang Y, et al. Sci Rep, 2017 Jul 13. PMID 28706259, Free PMC Article
  5. Linkage of the NKG2 and CD94 receptor genes to D12S77 in the human natural killer gene complex. Sobanov Y, et al. Immunogenetics, 1999 Feb. PMID 9887346

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. Screening for the Biomarkers Associated with Myocardial Infarction by Bioinformatics Analysis.
    Title: Screening for the Biomarkers Associated with Myocardial Infarction by Bioinformatics Analysis.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. NKG2F is expressed in NK cells and can associate with DAP12.
    Title: Human NKG2F is expressed and can associate with DAP12.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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 Behçet's disease and epistasis between HLA-B*51 and ERAP1.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Readthrough KLRC4-KLRK1

Readthrough gene: KLRC4-KLRK1, Included gene: KLRK1

Homology

Clone Names

  • FLJ17759, FLJ78582

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

Go to the top of the page Help
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)

Go to the top of the page Help

NEW Try the new Transcript table

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)

  1. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    10407384..10409757 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    10294201..10296574 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O43908.2 GenPept UniProtKB/Swiss-Prot:O43908

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous