Gene: HCG9

Alternate names for this Gene: HCGIX|HCGIX4

Gene Summary: This gene lies within the MHC class I region on chromosome 6p21.3. This gene is believed to be non-coding, but its function has not been determined.

Gene is located in Chromosome: 6

Location in Chromosome : 6p22.1

Description of this Gene: HLA complex group 9

Type of Gene: ncRNA

Gene: HLA-A

Alternate names for this Gene: HLAA

Gene Summary: HLA-A 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 the endoplasmic reticulum lumen so that they can be recognized by cytotoxic T cells. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, 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. Hundreds of HLA-A alleles have been described. The HLA system plays an important role in the occurrence and outcome of infectious diseases, including those caused by 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6p22.1

Description of this Gene: major histocompatibility complex, class I, A

Type of Gene: protein-coding

rs2735076 in HCG9;HLA-A gene and Coronary heart disease PMID 21971053 2012 Genome-wide association study of coronary artery disease in the Japanese.

rs2735076 in HCG9;HLA-A gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs2523946 in HCG9;HLA-A gene and IGA Glomerulonephritis PMID 26028593 2015 Identification of new susceptibility loci for IgA nephropathy in Han Chinese.

PMID 22197929 2011 A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy.

rs2523946 in HCG9;HLA-A gene and Rheumatoid Arthritis PMID 19503088 2009 REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.

PMID 17804836 2007 TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.

rs3823355 in HCG9;HLA-A gene and Vitiligo PMID 20410501 2010 Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.