Gene table of HLA-C : major histocompatibility complex, class I, C

Gene-disease associations table

Disease IDDisease nameSource of annotation with HLA-COMIM linkNumber of associated genesgenes
609423HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TOOMIM link to OMIM 16HLA-C, IFNG, CCL3, CD209, IL4R, KIR3DL1, CCL2, TLR3, CCR2, CX3CR1, CCL11, CCR5, CXCL12, CCL3L1, CXCR1, IL10
PS177900PSORIASISClinVar, OMIM link to OMIM 6HLA-C, TRAF3IP2, AP1S3, IL23R, IL36RN, CARD14

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Annotation of the gene HLA-C

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation

The gene is in the tandem Group 281, together with the genes:

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Antigen processing and presentationhsa046126.04
Natural killer cell mediated cytotoxicityhsa046505.53
Autoimmune thyroid diseasehsa053206.62
Allograft rejectionhsa053306.91
Viral carcinogenesishsa052035.08
Graft-versus-host diseasehsa053326.84
Cell adhesion molecules (CAMs)hsa045145.36
Phagosomehsa041455.27
Endocytosishsa041444.92
Type I diabetes mellitushsa049406.79
HTLV-I infectionhsa051664.59
Epstein-Barr virus infectionhsa051694.97
Viral myocarditishsa054166.45
Herpes simplex infectionhsa051685.08
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Antigen processing-Cross presentationR-HSA-12369755.88
Immune SystemR-HSA-1682562.37
ER-Phagosome pathwayR-HSA-12369746.08
Endosomal/Vacuolar pathwayR-HSA-12369776.92
Cytokine Signaling in Immune systemR-HSA-12802153.74
Interferon SignalingR-HSA-9135314.95
Class I MHC mediated antigen processing & presentationR-HSA-9831694.65
DAP12 interactionsR-HSA-21721274.56
Innate Immune SystemR-HSA-1682493.17
Interferon gamma signalingR-HSA-8773005.67
Interferon alpha/beta signalingR-HSA-9097336.04
Antigen Presentation: Folding, assembly and peptide loading of class I MHCR-HSA-9831706.64
Adaptive Immune SystemR-HSA-12802183.19
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cellR-HSA-1989334.7
Associated GO terms for Molecular function
GO termGO IDGO IC
signaling receptor activityGO:00380232.49
antigen bindingGO:00038235.02
MHC class II receptor activityGO:00323957.1
peptide antigen bindingGO:00426056.18
amide bindingGO:00332184.14
signal transducer activityGO:00048712.28
molecular transducer activityGO:00600892.32
transmembrane signaling receptor activityGO:00048882.57
bindingGO:00054880.18
protein bindingGO:00055150.46
TAP bindingGO:00469777.79
peptide bindingGO:00422774.22
transmembrane receptor activityGO:00996002.53
receptor activityGO:00048722.32