Gene Information
|
Gene Name
|
HLA-C |
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Gene ID
|
3107
|
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Gene Full Name
|
major histocompatibility complex, class I, C |
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Gene Alias
|
D6S204|HLA-JY3|HLAC|HLC-C|MHC|PSORS1 |
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Transcripts
|
ENSG00000204525
|
|
Virus
|
SARS-CoV-2 |
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Gene Type
|
protein-coding |
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HPA Location Info
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Intracellular and membrane;
|
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Membrane Info
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Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins |
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Uniport_ID
|
P10321
|
|
HGNC ID
|
HGNC:4933
|
|
OMIM ID
|
142840 |
|
Summary
|
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. About 6000 HLA-C alleles have been described. The HLA system plays an important role in the occurrence and outcome of infectious diseases, including those caused by the malaria parasite, 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. Individual HLA genetic variation may help explain different immune responses to a virus across a population.[provided by RefSeq, Aug 2020] |
Target gene [HLA-C] related to virus gene/protein/region
Mutation Table: if previous studies reported that target gene was related to virus gene/region/protein, the information in this literature was listed in this section
| ID |
PMID |
Mutation |
Gene/Protein/Region |
Encoding Gene/Protein |
Disease |
Description |
Detail |
| 1 |
38397027 |
H47Y |
ORF7a
|
ORF7a
|
|
G
R
S
T
|
View |
Target gene [HLA-C] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
GSE167075
|
MeRIP-seq;RNA-seq |
16 |
Illumina NovaSeq 6000 (Homo sapiens; Severe acute respiratory syndrome coronavirus 2);Illumina NovaSeq 6000 (Chlorocebus aethiops; Severe acute respiratory syndrome coronavirus 2) |
|
GSE164485
|
scRNA-seq |
36 |
Illumina HiSeq 2500 (Homo sapiens) |
|
GSE190680
|
RNA-seq |
100 |
Illumina NovaSeq 6000 (Homo sapiens) |
|
GSE152641
|
RNA-seq |
86 |
Illumina NovaSeq 6000 (Homo sapiens) |
|
GSE283771
|
RNA-seq |
6 |
Illumina HiSeq 2000 (Homo sapiens) |
|
GSE211934
|
RNA-seq |
8 |
Illumina NovaSeq 6000 (Homo sapiens) |
|
GSE163959
|
RNA-seq |
48 |
Illumina NextSeq 500 (Homo sapiens) |
|
S GSE206147
|
scRNA-seq |
1 |
Illumina NovaSeq 6000 (Homo sapiens) |
|
GSE240694
|
scRNA-seq |
9 |
Illumina NovaSeq 6000 (Homo sapiens) |
|
GSE166253
|
RNA-seq |
26 |
HiSeq X Ten (Homo sapiens) |
|
GSE153218
|
RNA-seq |
16 |
Illumina NextSeq 500 (Homo sapiens) |
|
GSE162323
|
RNA-seq |
42 |
Illumina NovaSeq 6000 (Homo sapiens);Illumina NovaSeq 6000 (Homo sapiens; Severe acute respiratory syndrome coronavirus 2) |
|
GSE199816
|
RNA-seq |
27 |
DNBSEQ-G400 (Homo sapiens) |
|
GSE215262
|
RNA-seq |
25 |
Illumina NovaSeq 6000 (Homo sapiens) |
When the query gene is differentially changed in the dataset, a feature/violin plot will be displayed.
> Dataset: GSE206147 - Gene expression in cell subsets
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