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HLA-C Gene(Protein Coding)

Major Histocompatibility Complex, Class I, C

GCID:
GC06M031272
GIFtS:
63
Genes Participants
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Aliases for HLA-C Gene

Aliases for HLA-C Gene

  • Major Histocompatibility Complex, Class I, C 2 3 5
  • HLA-JY3 3 4
  • D6S204 3 4
  • HLAC 3 4
  • HLA Class I Histocompatibility Antigen, Cw-1 Alpha Chain 3
  • HLA Class I Histocompatibility Antigen, C Alpha Chain 3
  • Major Histocompatibility Antigen HLA-C 3
  • MHC Class I Antigen Heavy Chain HLA-C 3
  • Human Leukocyte Antigen-C Alpha Chain 3
  • Psoriasis Susceptibility 1 2
  • MHC Class I Antigen Cw*12 4
  • MHC Class I Antigen Cw*14 4
  • MHC Class I Antigen Cw*15 4
  • MHC Class I Antigen Cw*16 4
  • MHC Class I Antigen Cw*17 4
  • MHC Class I Antigen Cw*18 4
  • MHC Class I Antigen Cw*1 4
  • MHC Class I Antigen Cw*2 4
  • MHC Class I Antigen Cw*3 4
  • MHC Class I Antigen Cw*4 4
  • MHC Class I Antigen Cw*5 4
  • MHC Class I Antigen Cw*6 4
  • MHC Class I Antigen Cw*7 4
  • MHC Class I Antigen Cw*8 4
  • HLA-C Alpha Chain 3
  • HLA-C Antigen 3
  • PSORS1 3
  • HLC-C 3
  • MHC 3

External Ids for HLA-C Gene

Previous HGNC Symbols for HLA-C Gene

  • HLA-JY3
  • D6S204
  • PSORS1

Previous GeneCards Identifiers for HLA-C Gene

  • GC06M031290
  • GC06M031007
  • GC06M031341
  • GC06M031344
  • GC06M031236

Summaries for HLA-C Gene

Entrez Gene Summary for HLA-C Gene

  • 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. Over one hundred HLA-C alleles have been described [provided by RefSeq, Jul 2008]

CIViC summary for HLA-C Gene

GeneCards Summary for HLA-C Gene

HLA-C (Major Histocompatibility Complex, Class I, C) is a Protein Coding gene. Diseases associated with HLA-C include Psoriasis Susceptibility 1 and Hiv-1. Among its related pathways are Allograft rejection and Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell. GO annotations related to this gene include receptor binding and TAP binding. An important paralog of this gene is HLA-B.

UniProtKB/Swiss-Prot for HLA-C Gene

  • Involved in the presentation of foreign antigens to the immune system.

Gene Wiki entry for HLA-C Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HLA-C Gene

Genomics for HLA-C Gene

Products:

  1. Regulatory Element

Regulatory Elements for HLA-C Gene

Enhancers for HLA-C Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G031269 1.6 FANTOM5 ENCODE dbSUPER 113.5 +0.7 675 4.4 HDGF PKNOX1 ATF1 WRNIP1 ARID4B SIN3A GLI4 ZNF2 YY1 ZNF121 HLA-C PSORS1C3 PPT2 DDX39B LY6G5B TCF19 LSM2 PSORS1C2 ATF6B HCG18
GH06G031353 1.8 FANTOM5 Ensembl ENCODE dbSUPER 41.9 -84.1 -84056 7.0 HDGF PKNOX1 ATF1 ZNF493 WRNIP1 ZFP64 SIN3A NSD2 ZNF2 GLIS2 HLA-C LY6G5B CCHCR1 PPT2 LSM2 ATF6B DDX39B HLA-B ENSG00000271581 TCF19
GH06G031307 1.2 FANTOM5 Ensembl ENCODE 59.7 -36.3 -36321 1.3 MAZ PKNOX1 ZNF687 HCFC1 DDX20 SIN3A GATAD2B EBF1 NFYB PBX2 HLA-C PSORS1C3 PSORS1C2 HLA-B LOC101929072 ENSG00000256166 DPCR1 ENSG00000271581 WASF5P POU5F1
GH06G031352 0.7 ENCODE dbSUPER 63 -79.8 -79822 0.4 POLR2A CBFB ZBED1 HLA-C PSORS1C2 PSORS1C1 PSORS1C3 HCG27 HLA-B MICA CCHCR1 POU5F1 PIR46739
GH06G031207 1.4 Ensembl ENCODE dbSUPER 30.4 +62.7 62655 3.2 ELF3 FOXA2 ARID4B DMAP1 THRB ZNF48 RARA ZNF766 CREM THAP11 POU5F1 PSORS1C3 HLA-C HCG27 CCHCR1 ENSG00000272501 ENSG00000229836 ENSG00000271581 HLA-B AGER
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HLA-C on UCSC Golden Path with GeneCards custom track

Promoters for HLA-C Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000195522 136 2001 ATF1 ARID4B GLI4 ZNF2 ZNF121 SLC30A9 GLIS2 ZNF416 ZNF207 ZNF143

Transcription factor binding sites by QIAGEN in the HLA-C gene promoter:

Genomic Location for HLA-C Gene

Chromosome:
6
Start:
31,268,749 bp from pter
End:
31,272,136 bp from pter
Size:
3,388 bases
Orientation:
Minus strand

Genomic View for HLA-C Gene

Genes around HLA-C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HLA-C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HLA-C Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for HLA-C Gene

Proteins for HLA-C Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for HLA-C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04222-1C03_HUMAN
    Recommended name:
    HLA class I histocompatibility antigen, Cw-3 alpha chain
    Protein Accession:
    P04222
    Secondary Accessions:
    • O62883
    • O78060
    • O78068
    • O78069
    • P30503
    • Q29743
    • Q29992
    • Q29993
    • Q9GIK8
    • Q9TQB4

    Protein attributes for HLA-C Gene

    Size:
    366 amino acids
    Molecular mass:
    40861 Da
    Quaternary structure:
    • Heterodimer of an alpha chain and a beta chain (beta-2-microglobulin). Interacts with human herpesvirus 8 MIR1 protein (By similarity).

    Three dimensional structures from OCA and Proteopedia for HLA-C Gene

neXtProt entry for HLA-C Gene

Protein Expression for HLA-C Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for HLA-C Gene

Other Protein References for HLA-C Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cloud-Clone Corp. Antibodies for HLA-C

No data available for DME Specific Peptides for HLA-C Gene

Domains & Families for HLA-C Gene

Gene Families for HLA-C Gene

HGNC:

Protein Domains for HLA-C Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for HLA-C Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P30499

UniProtKB/Swiss-Prot:

1C05_HUMAN :
  • Belongs to the MHC class I family.
Family:
  • Belongs to the MHC class I family.
genes like me logo Genes that share domains with HLA-C: view

Function for HLA-C Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for HLA-C Gene

GENATLAS Biochemistry:
HLA-C,alpha chain,44kDa,class Ia (see MHC1)
UniProtKB/Swiss-Prot Function:
Involved in the presentation of foreign antigens to the immune system.

Gene Ontology (GO) - Molecular Function for HLA-C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IBA --
GO:0005515 protein binding IPI 18322206
GO:0042605 peptide antigen binding ISS --
genes like me logo Genes that share ontologies with HLA-C: view
genes like me logo Genes that share phenotypes with HLA-C: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HLA-C Gene

Localization for HLA-C Gene

Subcellular locations from UniProtKB/Swiss-Prot for HLA-C Gene

Membrane; Single-pass type I membrane protein.
Isoform 1: Cell membrane; Single-pass type I membrane protein.
Isoform 2: Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HLA-C gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 5
golgi apparatus 5
endosome 4
mitochondrion 1
lysosome 1

Gene Ontology (GO) - Cellular Components for HLA-C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005783 endoplasmic reticulum ISS --
GO:0005794 Golgi apparatus ISS --
GO:0005886 plasma membrane TAS --
GO:0009986 cell surface ISS,IDA --
genes like me logo Genes that share ontologies with HLA-C: view

Pathways & Interactions for HLA-C Gene

genes like me logo Genes that share pathways with HLA-C: view

Interacting Proteins for HLA-C Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000365402%0d%0a9606.ENSP00000452780%0d%0a9606.ENSP00000331103%0d%0a9606.ENSP00000300289%0d%0a9606.ENSP00000295033%0d%0a9606.ENSP00000280551%0d%0a
Selected Interacting proteins: ENSP00000365402 P30504-1C04_HUMAN P10321-1C07_HUMAN P30508-1C12_HUMAN P30501-1C02_HUMAN Q07000-1C15_HUMAN Q29963-1C06_HUMAN P30505-1C08_HUMAN Q29960-1C16_HUMAN Q9TNN7-1C05_HUMAN P04222-1C03_HUMAN P30499-1C01_HUMAN Q95604-1C17_HUMAN P30510-1C14_HUMAN Q29865-1C18_HUMAN for HLA-C Gene via STRING MINT IID

Symbol External ID(s) Details
HLA-B
HLA-A
HLA-C
HLA-DRB1
B2M

Gene Ontology (GO) - Biological Process for HLA-C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I TAS,IEA --
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS --
GO:0002480 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent TAS --
GO:0006955 immune response IEA --
genes like me logo Genes that share ontologies with HLA-C: view

No data available for SIGNOR curated interactions for HLA-C Gene

Drugs & Compounds for HLA-C Gene

Products:

  1. Drug

(8) Drugs for HLA-C Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Allopurinol Approved Pharma 145
Carbamazepine Approved, Investigational Pharma 132
Methazolamide Approved Pharma Carbonic anhydrase inhibitor 7
Nevirapine Approved Pharma 223
Phenytoin Approved, Vet_approved Pharma Pore Blocker 77
genes like me logo Genes that share compounds with HLA-C: view

Transcripts for HLA-C Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for HLA-C Gene

(2) REFSEQ mRNAs :
(106) Additional mRNA sequences :
(251) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HLA-C Gene

Major histocompatibility complex, class I, C:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HLA-C Gene

No ASD Table

Relevant External Links for HLA-C Gene

GeneLoc Exon Structure for
HLA-C
ECgene alternative splicing isoforms for
HLA-C

Expression for HLA-C Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HLA-C Gene

mRNA expression in normal human tissues for HLA-C Gene
mRNA expression by BioGPS for HLA-C GenemRNA expression by GTEx for HLA-C Gene

mRNA differential expression in normal tissues according to GTEx for HLA-C Gene

This gene is overexpressed in Whole Blood (x15.8).

Protein differential expression in normal tissues from HIPED for HLA-C Gene

This gene is overexpressed in NK cells (14.9), Oral epithelium (11.9), and Amniocyte (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HLA-C Gene



Protein tissue co-expression partners for HLA-C Gene

SOURCE GeneReport for Unigene cluster for HLA-C Gene:

Hs.656020

Evidence on tissue expression from TISSUES for HLA-C Gene

  • Blood(5)
  • Liver(4.9)
  • Intestine(4.8)
  • Lung(4.8)
  • Nervous system(4.8)
  • Pancreas(4.5)
  • Spleen(4.4)
  • Skin(4.2)
  • Stomach(4.2)
  • Bone marrow(3.4)
  • Eye(3.4)
  • Heart(3.1)
  • Kidney(3.1)
  • Lymph node(2.5)
  • Muscle(2.4)
  • Adrenal gland(2.3)
  • Gall bladder(2.2)
  • Bone(2)
genes like me logo Genes that share expression patterns with HLA-C: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HLA-C Gene

Orthologs for HLA-C Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for HLA-C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia PATR-C 34 35
  • 95.99 (n)
Species where no ortholog for HLA-C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for HLA-C Gene

ENSEMBL:
Gene Tree for HLA-C (if available)
TreeFam:
Gene Tree for HLA-C (if available)

Paralogs for HLA-C Gene

Paralogs for HLA-C Gene

(214) SIMAP similar genes for HLA-C Gene using alignment to 4897 proteins:

genes like me logo Genes that share paralogs with HLA-C: view

Variants for HLA-C Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for HLA-C Gene

1C03_HUMAN-P04222
The following alleles of Cw-3 are known: Cw*03:02 (Cw3.2), Cw*03:03, Cw*03:04 (Cw3.1), Cw*03:05, Cw*03:06, Cw*03:07, Cw*03:08, Cw*03:09 and Cw*03:13. The sequence shown is that of Cw*03:04.
1C07_HUMAN-P10321
The following alleles of Cw-7 are known: Cw*07:01, Cw*07:02, Cw*07:03, Cw*07:04, Cw*07:06, Cw*07:09 and Cw*07:11. The sequence shown is that of Cw*07:02.
1C01_HUMAN-P30499
The following alleles of Cw-1 are known: Cw*01:01 (Cw1.1), Cw*01:02 (Cw1.2), Cw*01:03 and Cw*01:04. The sequence shown is that of Cw*01:01.
1C02_HUMAN-P30501
The following alleles of Cw-2 are known: Cw*02:01 (Cw2.1) and Cw*02:02 (Cw2.2). The sequence shown is that of Cw*02:01.
1C04_HUMAN-P30504
The following alleles of Cw-4 are known: Cw*04:01 Cw*04:03, Cw*04:04, Cw*04:05 and Cw*04:06. The sequence shown is that of Cw*04:01.
1C08_HUMAN-P30505
The following alleles of Cw-8 are known: Cw*08:01 (Cw8.1), Cw*08:02 (Cw8.2) and Cw*08:03. The sequence shown is that of Cw*08:01.
1C12_HUMAN-P30508
The following alleles of Cw-12 are known: Cw*12:02, Cw*12:03, Cw*12:04, Cw*12:05, Cw*12:06, Cw*12:07, Cw*12:08 and Cw*12:09. The sequence shown is that of Cw*12:02.
1C14_HUMAN-P30510
The following alleles of Cw-14 are known: Cw*14:02 (CB-1), Cw*14:03 (CX44) and Cw*14:04. The sequence shown is that of Cw*14:02.
1C15_HUMAN-Q07000
The following alleles of Cw-15 are known: Cw*15:02, Cw*15:03, Cw*15:04, Cw*15:05, Cw*15:10 and Cw*15:11. The sequence shown is that of Cw*15:02.
1C18_HUMAN-Q29865
The following alleles of Cw-18 are known: Cw*18:01 (Cw*04GB) and Cw*18:02 (Cw*18GB). The sequence shown is that of Cw*18:01.
1C16_HUMAN-Q29960
The following alleles of Cw-16 are known: Cw*16:01, Cw*16:02 (CW*CL10V) and Cw*16:04. The sequence shown is that of Cw*16:01.
1C06_HUMAN-Q29963
The following alleles of Cw-6 are known: Cw*06:02 Cw*06:03 and Cw*06:04. Allele Cw*062 is a risk factor that confers susceptibility to psoriasis. The sequence shown is that of Cw*06:02.
1C17_HUMAN-Q95604
Cw*17 appears at low frequencies in Caucasoid and Mongoloid populations (gene frequency 0.41 % in English Caucasoids, 0% in Japanese), but seems to be a common specificity in populations of African origin (PubMed:9098935). The following alleles of Cw-17 are known: Cw*17:01, Cw*17:02 and Cw*17:03. The sequence shown is that of Cw*17:01.
1C05_HUMAN-Q9TNN7
The following alleles of Cw-5 are known: Cw*05:01 Cw*0502, Cw*05:03 and Cw*05:04. The sequence shown is that of Cw*05:01.

Sequence variations from dbSNP and Humsavar for HLA-C Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000145319 -- 31,269,294(+) CTTTT(C/T)CCTCT intron-variant
rs1000365116 -- 31,271,887(+) GGGGC(A/T)GAGAC intron-variant
rs1002040170 -- 31,273,049(+) TCCAT(A/G)CAGTC upstream-variant-2KB
rs1004076630 -- 31,269,018(+) CACGG(C/G)GGTGG utr-variant-3-prime
rs1004207830 -- 31,273,389(+) GGCAC(C/T)AACAC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for HLA-C Gene

Variant ID Type Subtype PubMed ID
dgv10371n54 CNV loss 21841781
dgv10372n54 CNV gain 21841781
dgv10373n54 CNV gain 21841781
dgv10374n54 CNV gain 21841781
dgv10375n54 CNV gain 21841781
dgv10376n54 CNV loss 21841781
dgv1093e199 CNV deletion 23128226
dgv1094e199 CNV deletion 23128226
dgv118e19 CNV loss 19470904
dgv119e19 CNV loss 19470904
dgv995e201 CNV deletion 23290073
dgv996e201 CNV deletion 23290073
esv2422229 CNV deletion 17116639
esv2503823 CNV deletion 19546169
esv25563 CNV loss 19812545
esv2571432 CNV loss 19546169
esv2731791 CNV deletion 23290073
esv2759414 CNV gain+loss 17122850
esv2946 OTHER sequence alteration 18987735
esv32635 CNV gain+loss 17666407
esv3411275 CNV duplication 20981092
esv35158 CNV gain 17911159
esv3608531 CNV loss 21293372
esv3608532 CNV gain 21293372
esv3608545 CNV gain 21293372
nsv1074389 CNV deletion 25765185
nsv10814 CNV gain+loss 18304495
nsv10815 CNV gain 18304495
nsv1112899 CNV deletion 24896259
nsv1144137 CNV deletion 24896259
nsv428140 CNV gain+loss 18775914
nsv511327 CNV loss 21212237
nsv525255 CNV gain 19592680
nsv601264 CNV loss 21841781
nsv601481 CNV loss 21841781
nsv601496 CNV loss 21841781
nsv601500 CNV gain 21841781
nsv601502 CNV gain 21841781
nsv601506 CNV loss 21841781
nsv969378 CNV duplication 23825009

Variation tolerance for HLA-C Gene

Residual Variation Intolerance Score: 99.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 30.61; 99.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HLA-C Gene

Human Gene Mutation Database (HGMD)
HLA-C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HLA-C

Disorders for HLA-C Gene

MalaCards: The human disease database

(28) MalaCards diseases for HLA-C Gene - From: OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
psoriasis susceptibility 1
  • psoriasis
hiv-1
  • aids, slow progression to
psoriasis
pityriasis rosea
  • pityriasis circinata
hematopoietic stem cell transplantation
- elite association - COSMIC cancer census association via MalaCards
Search HLA-C in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

1C05_HUMAN
  • Psoriasis 1 (PSORS1) [MIM:177900]: A common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis. {ECO:0000269 PubMed:16642438}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for HLA-C

Genetic Association Database (GAD)
HLA-C
Human Genome Epidemiology (HuGE) Navigator
HLA-C
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HLA-C
genes like me logo Genes that share disorders with HLA-C: view

No data available for Genatlas for HLA-C Gene

Publications for HLA-C Gene

  1. [Killer cell immunoglobin-like receptor and its ligand gene polymorphisms in Hunan Han patients with type 1 diabetes]. (PMID: 20356536) Tan Y.Y. … Zhou Z.G. (Zhonghua Yi Xue Za Zhi 2010) 3 22 46 64
  2. Consistent beneficial effects of killer cell immunoglobulin-like receptor 2DL3 and group 1 human leukocyte antigen-C following exposure to hepatitis C virus. (PMID: 20077564) Knapp S. … Khakoo S.I. (Hepatology 2010) 3 22 46 64
  3. Natural killer cell receptor and HLA-C gene polymorphisms among patients with hepatitis C: a comparison between sustained virological responders and non-responders. (PMID: 20456039) Carneiro V.L. … Lyra A.C. (Liver Int. 2010) 3 22 46 64
  4. Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02). (PMID: 19115949) Limou S. … Zagury J.F. (J. Infect. Dis. 2009) 3 22 46 64
  5. HLA-Cw*0602 associates with a twofold higher prevalence of positive streptococcal throat swab at the onset of psoriasis: a case control study. (PMID: 19480679) Mallbris L. … StAYhle M. (BMC Dermatol. 2009) 3 22 46 64

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