Gene Information
|
Gene Name
|
GJA1 |
|
Gene ID
|
2697
|
|
Gene Full Name
|
gap junction protein alpha 1 |
|
Gene Alias
|
AVSD3|CMDR|CX43|EKVP|EKVP3|GJAL|HLHS1|HSS|ODDD|PPKCA |
|
Transcripts
|
ENSG00000152661
|
|
Virus
|
HTLV1 |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
Vesicles, Cell Junctions;Nucleoplasm;
|
|
Membrane Info
|
Cancer-related genes, Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters |
|
Uniport_ID
|
P17302
|
|
HGNC ID
|
HGNC:4274
|
|
OMIM ID
|
121014 |
|
Summary
|
This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014] |
Target gene [GJA1] 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
| DVID |
Chromosome |
HM |
TFBS |
CA |
Sum of Overlapped Records |
Detail |
| 6021532 |
chr6 |
6 |
0 |
0 |
6 |
View |
Target gene [GJA1] 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] |
|
E 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 query gene is differentially changed in the dataset, a volcano/bar plot will be displayed.
> Dataset: GSE19080 - GJA1 expression across samples
|
Volcano Plot
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Bar Plot
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