KLRC3 killer cell lectin like receptor C3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KLRC3provided by HGNC
Official Full Name: killer cell lectin like receptor C3provided by HGNC
Primary source: HGNC:HGNC:6376
See related: Ensembl:ENSG00000205810 MIM:602892; AllianceGenome:HGNC:6376
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: NKG2E; NKG2-E
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. KLRC3 is a member of the NKG2 group which are expressed primarily in natural killer (NK) cells and encodes a family of transmembrane proteins characterized by a type II membrane orientation (extracellular C terminus) and the presence of a C-type lectin domain. The NKG2 gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed on NK cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Expression: Biased expression in brain (RPKM 5.1), spleen (RPKM 3.6) and 8 other tissues See more
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Genomic context

Location:: 12p13.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (10412315..10420595, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (10299132..10307417, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (10564914..10573194, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DNA Methylation of KLRC1 and KLRC3 in Autoimmune Thyroiditis: Perspective of Different Water Iodine Exposure.
Title: DNA Methylation of KLRC1 and KLRC3 in Autoimmune Thyroiditis: Perspective of Different Water Iodine Exposure.
These observations raise the intriguing possibility that NKG2H may be a novel marker for T cells able to negatively regulate T cell responses.
Title: NKG2H-Expressing T Cells Negatively Regulate Immune Responses.
ADSL is involved in endometrial cancer aggressiveness by regulating expression of killer cell lectin-like receptor C3.
Title: Adenylosuccinate lyase enhances aggressiveness of endometrial cancer by increasing killer cell lectin-like receptor C3 expression by fumarate.
KLRC3 gene expression is linked to glioblastoma aggressiveness.
Title: KLRC3, a Natural Killer receptor gene, is a key factor involved in glioblastoma tumourigenesis and aggressiveness.
Data indicate that NKG2 receptor NKG2E was capable of associating with CD94 and DAP12 but that the complex was retained intracellularly at the endoplasmic reticulum.
Title: Human NKG2E is expressed and forms an intracytoplasmic complex with CD94 and DAP12.
Data indicate that the expression of KLRD1 (CD94) and NKG2E (KLRC3) was reduced in NK-enriched cells in fulminant type 1 diabetes.
Title: Low gene expression levels of activating receptors of natural killer cells (NKG2E and CD94) in patients with fulminant type 1 diabetes.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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

G63927 (e-PCR)
- UniSTS:146467

D12S1967 (e-PCR)
- UniSTS:19002

NoName (e-PCR)
- UniSTS:483945

STS-L14542 (e-PCR)
- UniSTS:49887

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables carbohydrate binding	IEA Inferred from Electronic Annotation more info
enables transmembrane signaling receptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cellular defense response	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of natural killer cell mediated cytotoxicity	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of natural killer cell activation	NAS Non-traceable Author Statement more info	PubMed
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
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
part_of receptor complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: NKG2-E type II integral membrane protein

Names: NK cell receptor E; NKG2-E-activating NK receptor; killer cell lectin-like receptor subfamily C, member 3

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.

Genomic

NG_029682.1 RefSeqGene

Range

5001..13281

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002261.3 → NP_002252.2 NKG2-E type II integral membrane protein isoform E

See identical proteins and their annotated locations for NP_002252.2

Status: REVIEWED

Description

Transcript Variant: This variant (1), also known as NKG2-E, represents the longer transcript but encodes the shorter isoform (E).

Source sequence(s)

AC068775, AF461157, L14542

Consensus CDS

CCDS41755.1

UniProtKB/Swiss-Prot

Q07444, Q8WXA4, Q96RL0, Q9UP04

UniProtKB/TrEMBL

F5H6K3

Related

ENSP00000379716.3, ENST00000396439.7

Conserved Domains (1) summary

cd03593
Location:117 → 224

CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)
NM_007333.2 → NP_031359.2 NKG2-E type II integral membrane protein isoform H

See identical proteins and their annotated locations for NP_031359.2

Status: REVIEWED

Description

Transcript Variant: This variant (2), also known as NKG2-H, uses an alternate splice site and lacks an exon in the 3' coding region, compared to variant 1. The resulting protein (isoform H) contains a distinct C-terminus, compared to isoform E.

Source sequence(s)

AC068775, AF078550, L14542

Consensus CDS

CCDS31744.1

UniProtKB/TrEMBL

F5H6K3

Related

ENSP00000371328.2, ENST00000381903.2

Conserved Domains (1) summary

cd03593
Location:117 → 227

CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)