Gene Information
|
Gene Name
|
COL2A1 |
|
Gene ID
|
1280
|
|
Gene Full Name
|
collagen type II alpha 1 chain |
|
Gene Alias
|
ACG2|ANFH|ANFH1|AOM|COL11A3|EDMMD|LCPD|OSCDP|PLSDT|SEDC|SEDSTN|SEMDSTWK|SMDALG|STL1|VPED |
|
Transcripts
|
ENSG00000139219
|
|
Virus
|
HTLV1 |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
Nucleoplasm;Secreted to extracellular matrix; 
|
|
Membrane Info
|
Cancer-related genes, Disease related genes, FDA approved drug targets, Human disease related genes, Predicted secreted proteins |
|
Uniport_ID
|
P02458
|
|
HGNC ID
|
HGNC:2200
|
|
OMIM ID
|
120140 |
|
Summary
|
This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008] |
Target gene [COL2A1] related to VISs 
Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section
Target gene [COL2A1] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
GSE189602
|
Methylation profiling (Array) |
4 |
Infinium MethylationEPIC |
|
C GSE94732
|
Chip-seq |
24 |
Illumina NextSeq 500 (Homo sapiens);illumina Genome Analyzer IIx (Homo sapiens) |
|
GSE52244
|
Expression array |
15 |
[HuEx-1_0-st] Affymetrix Human Exon 1.0 ST Array [probe set (exon) version] |
|
GSE19080
|
Expression array |
38 |
Homo sapiens 3K Immunoarray2 HTLV-1 JH |
|
GSE10789
|
Expression array |
6 |
NCI/ATC Hs-OperonV3 |
|
GSE168557
|
Expression array |
6 |
Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Feature Number version) |
|
GSE136189
|
Methylation profiling (Array) |
40 |
Illumina HumanMethylation450 BeadChip (HumanMethylation450_15017482);Illumina Infinium HumanMethylation850 BeadChip |
When the gene can detect a peak in the dataset, a peak plot will be displayed.
> Dataset: GSE94732 - COL2A1 peak across samples
|
Peak Plot
|
|
|
HTLV1 Target gene Detail Information
