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

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

Identity

Other names	D6S204
	HLA-JY3
	HLAC
	HLC-C
	PSORS1
HGNC (Hugo)	HLA-C
LocusID (NCBI)	3107
Atlas_Id	40831
Location	6p21.33 [Link to chromosome band 6p21]
Location_base_pair	Starts at 31236526 and ends at 31239913 bp from pter ( according to hg19-Feb_2009)

Fusion genes (updated 2016)	AES (19p13.3) / HLA-C (6p21.33)	BTNL3 (5q35.3) / HLA-C (6p21.33)	DAPL1 (2q24.1) / HLA-C (6p21.33)
	HLA-A (6p22.1) / HLA-C (6p21.33)	HLA-C (6p21.33) / ANP32A (15q23)	HLA-C (6p21.33) / CFB (6p21.33)
	HLA-C (6p21.33) / FOXP1 (3p13)	HLA-C (6p21.33) / HEPH (Xq12)	HLA-C (6p21.33) / HLA-B (6p21.33)
	HLA-C (6p21.33) / HSP90AA1 (14q32.31)	HLA-C (6p21.33) / TCOF1 (5q32)	HLA-C (6p21.33) / ZMIZ2 (7p13)
	HLA-C (6p21.33) / ZNF664 (12q24.31)	HLA-G (6p22.1) / HLA-C (6p21.33)	HLA-H (6p22.1) / HLA-C (6p21.33)
	HLA-J (6p22.1) / HLA-C (6p21.33)	HLA-L (6p22.1) / HLA-C (6p21.33)	LIF (22q12.2) / HLA-C (6p21.33)
	LOC100507412 (-) / HLA-C (6p21.33)	NUMA1 (11q13.4) / HLA-C (6p21.33)	S100A11 (1q21.3) / HLA-C (6p21.33)
	STX4 (16p11.2) / HLA-C (6p21.33)	TGFBI (5q31.1) / HLA-C (6p21.33)	HLA-C 6p21.33 / CFB 6p21.33
	HLA-C 6p21.33 / FOXP1 3p13	HLA-C 6p21.33 / TCOF1 5q32

Note	Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, go to How to contribute

DNA/RNA

External links

	Nomenclature
HGNC (Hugo)	HLA-C 4933
	Cards
Entrez_Gene (NCBI)	HLA-C 3107 major histocompatibility complex, class I, C
Aliases	D6S204; HLA-JY3; HLAC; HLC-C;
	PSORS1
GeneCards (Weizmann)	HLA-C
Ensembl hg19 (Hinxton)	ENSG00000204525 [Gene_View] chr6:31236526-31239913 [Contig_View] HLA-C [Vega]
Ensembl hg38 (Hinxton)	ENSG00000204525 [Gene_View] chr6:31236526-31239913 [Contig_View] HLA-C [Vega]
ICGC DataPortal	ENSG00000204525
TCGA cBioPortal	HLA-C
AceView (NCBI)	HLA-C
Genatlas (Paris)	HLA-C
WikiGenes	3107
SOURCE (Princeton)	HLA-C
	Genomic and cartography
GoldenPath hg19 (UCSC)	HLA-C - chr6:31236526-31239913 - 6p21.33 [Description] (hg19-Feb_2009)
GoldenPath hg38 (UCSC)	HLA-C - 6p21.33 [Description] (hg38-Dec_2013)
Ensembl	HLA-C - 6p21.33 [CytoView hg19] HLA-C - 6p21.33 [CytoView hg38]
Mapping of homologs : NCBI	HLA-C [Mapview hg19] HLA-C [Mapview hg38]
OMIM	142840 177900 609423
	Gene and transcription
Genbank (Entrez)	AF168611 AF196489 AF405691 AJ005199 AJ010748
RefSeq transcript (Entrez)	NM_001243042 NM_002117
RefSeq genomic (Entrez)	NC_000006 NC_018917 NG_029422 NT_007592 NT_113891 NT_167245 NT_167246 NT_167247 NT_167248 NT_167249 NW_004929326
Consensus coding sequences : CCDS (NCBI)	HLA-C
Cluster EST : Unigene	Hs.743218 [ NCBI ]
CGAP (NCI)	Hs.743218
Alternative Splicing Gallery	ENSG00000204525
Gene Expression	HLA-C [ NCBI-GEO ] HLA-C [ EBI - ARRAY_EXPRESS ] HLA-C [ SEEK ] HLA-C [ MEM ]
Gene Expression Viewer (FireBrowse)	HLA-C [ Firebrowse - Broad ]
SOURCE (Princeton)	Expression in : [Datasets] [Normal Tissue Atlas] [carcinoma Classsification] [NCI60]
Genevisible	Expression in : [tissues] [cell-lines] [cancer] [perturbations]
BioGPS (Tissue expression)	3107
GTEX Portal (Tissue expression)	HLA-C
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	Q9TNN7 (Uniprot)
NextProt	Q9TNN7 [Sequence] [Exons] [Medical] [Publications]
With graphics : InterPro	Q9TNN7
Splice isoforms : SwissVar	Q9TNN7 (Swissvar)
PhosPhoSitePlus	Q9TNN7
Domaine pattern : Prosite (Expaxy)	IG_LIKE (PS50835) IG_MHC (PS00290)
Domains : Interpro (EBI)	Ig-like_dom Ig-like_fold Ig/MHC_CS Ig_C1-set MHC_I-like_Ag-recog MHC_I/II-like_Ag-recog MHC_I_a MHC_I_a_a1/a2 MHC_I_a_C
Domain families : Pfam (Sanger)	C1-set (PF07654) MHC_I (PF00129) MHC_I_C (PF06623)
Domain families : Pfam (NCBI)	pfam07654 pfam00129 pfam06623
Domain families : Smart (EMBL)	IGc1 (SM00407)
DMDM Disease mutations	3107
Blocks (Seattle)	HLA-C
Superfamily	Q9TNN7
Human Protein Atlas	ENSG00000204525
Peptide Atlas	Q9TNN7
HPRD	00829
	Protein Interaction databases
DIP (DOE-UCLA)	Q9TNN7
IntAct (EBI)	Q9TNN7
FunCoup	ENSG00000204525
BioGRID	HLA-C
STRING (EMBL)	HLA-C
ZODIAC	HLA-C
	Ontologies - Pathways
QuickGO	Q9TNN7
Ontology : AmiGO	Golgi membrane antigen processing and presentation of peptide antigen via MHC class I antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent antigen binding extracellular region endoplasmic reticulum endoplasmic reticulum Golgi apparatus Golgi apparatus plasma membrane plasma membrane integral component of plasma membrane immune response cell surface cell surface ER to Golgi transport vesicle membrane viral process antigen processing and presentation phagocytic vesicle membrane early endosome membrane peptide antigen binding peptide antigen binding MHC class I protein complex MHC class I protein complex innate immune response TAP binding regulation of immune response interferon-gamma-mediated signaling pathway type I interferon signaling pathway extracellular exosome integral component of lumenal side of endoplasmic reticulum membrane
Ontology : EGO-EBI	Golgi membrane antigen processing and presentation of peptide antigen via MHC class I antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent antigen binding extracellular region endoplasmic reticulum endoplasmic reticulum Golgi apparatus Golgi apparatus plasma membrane plasma membrane integral component of plasma membrane immune response cell surface cell surface ER to Golgi transport vesicle membrane viral process antigen processing and presentation phagocytic vesicle membrane early endosome membrane peptide antigen binding peptide antigen binding MHC class I protein complex MHC class I protein complex innate immune response TAP binding regulation of immune response interferon-gamma-mediated signaling pathway type I interferon signaling pathway extracellular exosome integral component of lumenal side of endoplasmic reticulum membrane
Pathways : KEGG	Endocytosis Phagosome Cell adhesion molecules (CAMs) Antigen processing and presentation Natural killer cell mediated cytotoxicity Type I diabetes mellitus HTLV-I infection Herpes simplex infection Epstein-Barr virus infection Viral carcinogenesis Autoimmune thyroid disease Allograft rejection Graft-versus-host disease Viral myocarditis
NDEx Network	HLA-C
Atlas of Cancer Signalling Network	HLA-C
Wikipedia pathways	HLA-C
	Orthology - Evolution
OrthoDB	3107
GeneTree (enSembl)	ENSG00000204525
Phylogenetic Trees/Animal Genes : TreeFam	HLA-C
Homologs : HomoloGene	HLA-C
Homology/Alignments : Family Browser (UCSC)	HLA-C
	Gene fusions - Rearrangements
Fusion: TCGA	HLA-C 6p21.33 CFB 6p21.33 BRCA
Fusion: TCGA	HLA-C 6p21.33 FOXP1 3p13 LUAD
Fusion: TCGA	HLA-C 6p21.33 TCOF1 5q32 HNSC
	Polymorphisms : SNP, variants
NCBI Variation Viewer	HLA-C [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)	HLA-C
dbVar	HLA-C
ClinVar	HLA-C
1000_Genomes	HLA-C
Exome Variant Server	HLA-C
ExAC (Exome Aggregation Consortium)	HLA-C (select the gene name)
Genetic variants : HAPMAP	3107
Genomic Variants (DGV)	HLA-C [DGVbeta]
	Mutations
ICGC Data Portal	HLA-C
TCGA Data Portal	HLA-C
Broad Tumor Portal	HLA-C
OASIS Portal	HLA-C [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMIC	HLA-C
LOVD (Leiden Open Variation Database)	Whole genome datasets
LOVD (Leiden Open Variation Database)	LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)	LOVD 3.0 shared installation
BioMuta	search HLA-C
DgiDB (Drug Gene Interaction Database)	HLA-C
DoCM (Curated mutations)	HLA-C (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)	HLA-C (select a term)
intoGen	HLA-C
Impact of mutations	[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor]
	Diseases
DECIPHER (Syndromes)	6:31236526-31239913 ENSG00000204525
CONAN: Copy Number Analysis	HLA-C
Mutations and Diseases : HGMD	HLA-C
OMIM	142840 177900 609423
Medgen	HLA-C
Genetic Testing Registry	HLA-C
NextProt	Q9TNN7 [Medical]
TSGene	3107
GENETests	HLA-C
Huge Navigator	HLA-C [HugePedia]
snp3D : Map Gene to Disease	3107
BioCentury BCIQ	HLA-C
ClinGen	HLA-C
	Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD	3107
Chemical/Pharm GKB Gene	PA35057
Clinical trial	HLA-C
	Miscellaneous
canSAR (ICR)	HLA-C (select the gene name)
	Probes
	Litterature
PubMed	499 Pubmed reference(s) in Entrez
GeneRIFs	Gene References Into Functions (Entrez)
CoreMine	HLA-C
EVEX	HLA-C
GoPubMed	HLA-C
iHOP	HLA-C

Genes in title	automatic search in PubMed
REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI NCBI

indexed on : Mon Sep 19 18:53:03 CEST 2016

Home Genes Leukemias Solid Tumours Cancer-Prone Deep Insight Case Reports Journals Portal Teaching

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jlhuret@AtlasGeneticsOncology.org.

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, go to How to contribute

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to How to contribute