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HLA-C major histocompatibility complex, class I, C

Gene ID: 3107, updated on 16-Apr-2024
Gene type: protein coding
Also known as: MHC; HLAC; HLC-C; D6S204; PSORS1; HLA-JY3

Summary

HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. About 6000 HLA-C alleles have been described. The HLA system plays an important role in the occurrence and outcome of infectious diseases, including those caused by the malaria parasite, the human immunodeficiency virus (HIV), and the severe acute respiratory syndrome coronavirus (SARS-CoV). The structural spike and the nucleocapsid proteins of the novel coronavirus SARS-CoV-2, which causes coronavirus disease 2019 (COVID-19), are reported to contain multiple Class I epitopes with predicted HLA restrictions. Individual HLA genetic variation may help explain different immune responses to a virus across a population.[provided by RefSeq, Aug 2020]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
GeneReviews: Not available
A genome-wide association study for coronary artery disease identifies a novel susceptibility locus in the major histocompatibility complex.
GeneReviews: Not available
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.
GeneReviews: Not available
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
GeneReviews: Not available
A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.
GeneReviews: Not available
A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci.
GeneReviews: Not available
A whole-genome association study of major determinants for allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients.
GeneReviews: Not available
Association study of common genetic variants and HIV-1 acquisition in 6,300 infected cases and 7,200 controls.
GeneReviews: Not available
Common genetic variation and the control of HIV-1 in humans.
GeneReviews: Not available
Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis.
GeneReviews: Not available
Genetic variants at 6p21.33 are associated with susceptibility to follicular lymphoma.
GeneReviews: Not available
Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.
GeneReviews: Not available
Genome-wide association study for levels of total serum IgE identifies HLA-C in a Japanese population.
GeneReviews: Not available
Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.
GeneReviews: Not available
Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC.
GeneReviews: Not available
Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.
GeneReviews: Not available
Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2.
GeneReviews: Not available
Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.
GeneReviews: Not available
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
GeneReviews: Not available
Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.
GeneReviews: Not available
Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02).
GeneReviews: Not available
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available
Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene.
GeneReviews: Not available
Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
GeneReviews: Not available
Multiple loci are associated with white blood cell phenotypes.
GeneReviews: Not available
New loci associated with chronic hepatitis B virus infection in Han Chinese.
GeneReviews: Not available
Novel associations for hypothyroidism include known autoimmune risk loci.
GeneReviews: Not available
Psoriasis 1, susceptibility to
MedGen: C1867449OMIM: 177900GeneReviews: Not available
See labs
Susceptibility to HIV infection
MedGen: C1836230OMIM: 609423GeneReviews: Not available
See labs
The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.
GeneReviews: Not available

Genomic context

Location:
6p21.33
Sequence:
Chromosome: 6; NC_000006.12 (31268749..31272092, complement)
Total number of exons:
8

Links

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