HLA-C (major histocompatibility complex, class I, C)

2003-11-01  

Identity

HGNC
HLA-C
LOCATION
6p21.33
LOCUSID
3107
ALIAS
D6S204,HLA-JY3,HLAC,HLC-C,MHC,PSORS1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3107
MIM: 142840
HGNC: 4933
Ensembl: ENSG00000204525

Variants:

dbSNP: 3107
ClinVar: 3107
TCGA: ENSG00000204525
COSMIC: HLA-C

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000204525ENST00000376228P10321
ENSG00000204525ENST00000376228Q6R739
ENSG00000204525ENST00000376237F8W9Z8
ENSG00000204525ENST00000383329A2AEA2
ENSG00000204525ENST00000415537A0A140T9E1
ENSG00000204525ENST00000640219A0A1W2PRU9

Expression (GTEx)

0
500
1000
1500
2000
2500
3000
3500
4000
4500
5000
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Cell adhesion molecules (CAMs)KEGGko04514
Antigen processing and presentationKEGGko04612
Natural killer cell mediated cytotoxicityKEGGko04650
Type I diabetes mellitusKEGGko04940
Autoimmune thyroid diseaseKEGGko05320
Allograft rejectionKEGGko05330
Graft-versus-host diseaseKEGGko05332
Cell adhesion molecules (CAMs)KEGGhsa04514
Antigen processing and presentationKEGGhsa04612
Natural killer cell mediated cytotoxicityKEGGhsa04650
Type I diabetes mellitusKEGGhsa04940
Autoimmune thyroid diseaseKEGGhsa05320
Allograft rejectionKEGGhsa05330
Graft-versus-host diseaseKEGGhsa05332
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
Viral myocarditisKEGGhsa05416
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
HTLV-I infectionKEGGko05166
HTLV-I infectionKEGGhsa05166
Herpes simplex infectionKEGGko05168
Herpes simplex infectionKEGGhsa05168
Epstein-Barr virus infectionKEGGhsa05169
Epstein-Barr virus infectionKEGGko05169
Viral carcinogenesisKEGGhsa05203
Viral carcinogenesisKEGGko05203
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen Presentation: Folding, assembly and peptide loading of class I MHCREACTOMER-HSA-983170
Antigen processing-Cross presentationREACTOMER-HSA-1236975
ER-Phagosome pathwayREACTOMER-HSA-1236974
Endosomal/Vacuolar pathwayREACTOMER-HSA-1236977
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cellREACTOMER-HSA-198933
Innate Immune SystemREACTOMER-HSA-168249
DAP12 interactionsREACTOMER-HSA-2172127
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Interferon SignalingREACTOMER-HSA-913531
Interferon alpha/beta signalingREACTOMER-HSA-909733
Interferon gamma signalingREACTOMER-HSA-877300
Neutrophil degranulationREACTOMER-HSA-6798695

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10715sulfamethoxazole / trimethoprimChemicalVariantAnnotationassociatedPD26086150
PA162316739Maculopapular ExanthemaDiseaseClinicalAnnotation, VariantAnnotationassociatedPD20235791, 25495410
PA164712708Drugs For Treatment Of TuberculosisChemicalVariantAnnotationassociatedPD23153709
PA164713366Tumor necrosis factor alpha (TNF-alpha) inhibitorsChemicalClinicalAnnotationassociatedPD27670765
PA164742987clavulanateChemicalVariantAnnotationassociatedPD30664875
PA164781042flucloxacillinChemicalVariantAnnotationassociatedPD30664875
PA164784024peginterferon alfa-2bChemicalClinicalAnnotation, VariantAnnotationassociatedPD
PA164925725Toxic liver diseaseDiseaseClinicalAnnotation, VariantAnnotationassociatedPD17339877
PA166048654ustekinumabChemicalClinicalAnnotation, VariantAnnotationassociatedPD23521149
PA166119041drug-induced liver injuryDiseaseVariantAnnotationassociatedPD30664875
PA166120926dress syndromeDiseaseVariantAnnotationassociatedPD
PA166120927drug reaction with eosinophilia and systemic symptomsDiseaseClinicalAnnotationassociatedPD19104471, 19845952, 21505298, 21902584, 23362284, 24911354, 25714001, 28819312
PA166120929severe cutaneous adverse reactionsDiseaseClinicalAnnotation, VariantAnnotationambiguousPD15743917, 19668019, 20504258, 21301380, 21393610, 21545408, 21912425, 21917426, 24399721
PA443297AgranulocytosisDiseaseVariantAnnotationassociatedPD11266078
PA443622Carcinoma, Non-Small-Cell LungDiseaseClinicalAnnotationassociatedPD31616045
PA443936Drug HypersensitivityDiseaseClinicalAnnotation, VariantAnnotationassociatedPD16868443, 21545408, 21902584, 21912425, 23153709, 24858023, 24911354
PA443937Drug ToxicityDiseaseVariantAnnotationassociatedPD
PA444059Epidermal Necrolysis, ToxicDiseaseClinicalAnnotation, VariantAnnotationambiguousPD15743917, 19104471, 19845952, 20235791, 20504258, 21301380, 21393610, 21505298, 21545408, 21902584, 21912425, 23362284, 24911354, 25495410, 25714001, 25918017, 26086150, 26928377, 27888155, 28819312, 30242287
PA444065EpilepsyDiseaseVariantAnnotationassociatedPD19694795, 20235791, 24399721
PA444109ExanthemaDiseaseClinicalAnnotation, VariantAnnotationambiguousPD19104471, 21393610
PA444445Hepatitis CDiseaseClinicalAnnotation, VariantAnnotationassociatedPD
PA444546HypersensitivityDiseaseClinicalAnnotation, VariantAnnotationassociatedPD17197830, 19104471, 19845952, 21505298, 21902584, 23362284, 24911354, 25714001, 28819312
PA444684Kidney Failure, ChronicDiseaseVariantAnnotationassociatedPD21393610
PA445451PsoriasisDiseaseClinicalAnnotation, VariantAnnotationassociatedPD23521149, 27670765, 28444425
PA445738Stevens-Johnson SyndromeDiseaseClinicalAnnotation, VariantAnnotationambiguousPD15743917, 19104471, 19694795, 19845952, 20235791, 20504258, 21301380, 21393610, 21505298, 21545408, 21902584, 21912425, 23362284, 24858023, 24911354, 25495410, 25714001, 25918017, 26086150, 26928377, 27888155, 28819312, 30242287
PA445846ThrombocytopeniaDiseaseClinicalAnnotationassociatedPD31616045
PA445941TuberculosisDiseaseVariantAnnotationassociatedPD23153709
PA446827Hematologic NeoplasmsDiseaseVariantAnnotationassociatedPD24858023
PA447216SchizophreniaDiseaseVariantAnnotationassociatedPD11266078
PA447230HIVDiseaseClinicalAnnotation, VariantAnnotationambiguousPD16868443, 17197830, 19104471, 21810746, 21902584, 24911354
PA448015acetaminophenChemicalVariantAnnotationnot associatedPD21545408
PA448320allopurinolChemicalClinicalAnnotation, VariantAnnotationambiguousPD15743917, 21301380, 21393610, 21545408, 21912425, 24858023, 30924126
PA448406amoxicillinChemicalVariantAnnotationassociatedPD30664875
PA448785carbamazepineChemicalClinicalAnnotation, VariantAnnotationambiguousPD19694795, 21917426, 24399721, 27888155
PA448803carboplatinChemicalClinicalAnnotationassociatedPD31616045
PA449061clozapineChemicalVariantAnnotationassociatedPD11266078
PA449748gemcitabineChemicalClinicalAnnotationassociatedPD31616045
PA450164lamotrigineChemicalVariantAnnotationassociatedPD19668019
PA450413methazolamideChemicalClinicalAnnotation, VariantAnnotationassociatedPD20504258, 25918017, 30242287
PA450428methotrexateChemicalClinicalAnnotation, VariantAnnotationassociatedPD28444425
PA450616nevirapineChemicalClinicalAnnotation, VariantAnnotationambiguousPD16868443, 17197830, 19104471, 19845952, 21505298, 21810746, 21902584, 23362284, 24911354, 25714001, 28819312
PA450947phenytoinChemicalClinicalAnnotation, VariantAnnotationambiguousPD20235791, 25495410, 26928377, 27888155
PA451241ribavirinChemicalClinicalAnnotation, VariantAnnotationassociatedPD
PA451686ticlopidineChemicalClinicalAnnotation, VariantAnnotationassociatedPD17339877

References

Pubmed IDYearTitleCitations
374068222024The protective association of HLA-B∗52:01, HLA-C∗12:02, and DQB1∗06:01 alleles with severe acute hepatitis of unknown origin in Japanese children.0
374613392024Impact of HLA Class I Antigen, Killer Inhibitory Receptor, and FCGR3A Genotypes on Breast Cancer Susceptibility and Tumor Stage.0
376979312024The protective association of HLA-C*12:02 and HLA-DQB1*06:01 with severe acute hepatitis of unknown origin in the Japanese population.0
377675522024HLA-C*04:09N is expressed at the cell surface and triggers peptide-specific T-cell activation.0
378841602024HLA-C*07:01 and HLA-DQB1*02:01 protect against white matter hyperintensities and deterioration of cognitive function: A population-based cohort study.1
382734542024Establishing association between HLA-C*04:01 and severe COVID-19.0
384924722024HLA-G isoforms, HLA-C allotype and their expressions differ between early abortus and placenta in relation to spontaneous abortions.0
385168602024Helicobacter pylori enhances HLA-C expression in the human gastric adenocarcinoma cells AGS and can protect them from the cytotoxicity of natural killer cells.0
386744562024HLA-B and C Expression Contributes to COVID-19 Disease Severity within a South African Cohort.0
389463722024[Genetic study of a rare Chinese pedigree with a recombination occurring between the HLA-A/C loci in both parents].0
374068222024The protective association of HLA-B∗52:01, HLA-C∗12:02, and DQB1∗06:01 alleles with severe acute hepatitis of unknown origin in Japanese children.0
374613392024Impact of HLA Class I Antigen, Killer Inhibitory Receptor, and FCGR3A Genotypes on Breast Cancer Susceptibility and Tumor Stage.0
376979312024The protective association of HLA-C*12:02 and HLA-DQB1*06:01 with severe acute hepatitis of unknown origin in the Japanese population.0
377675522024HLA-C*04:09N is expressed at the cell surface and triggers peptide-specific T-cell activation.0
378841602024HLA-C*07:01 and HLA-DQB1*02:01 protect against white matter hyperintensities and deterioration of cognitive function: A population-based cohort study.1

Citation

Dessen P

HLA-C (major histocompatibility complex, class I, C)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/40831