HLA-C major histocompatibility complex, class I, C
Gene ID: 3107, updated on 16-Apr-2024Gene type: protein coding
Also known as: MHC; HLAC; HLC-C; D6S204; PSORS1; HLA-JY3
- See all available tests in GTR for this gene
- Go to complete Gene record for HLA-C
- Go to Variation Viewer for HLA-C variants
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
Description | Tests |
---|---|
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 | See labs |
Susceptibility to HIV infection | 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
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for HLA-C variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.