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General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| GJB2 | 2706 | gap junction protein beta 2 | 13 | HID; KID; PPK; CX26; DFNA3; DFNB1; NSRD1; DFNA3A; DFNB1A |
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
- PPi
- Pathway
- Structural
- Domain
- Ontology
- SNP
- Drug
- External Links
Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 21406965 | 2011 | Cell line : - Source : - Sample Type : - No. of Sample : - Stage : - | - | Methylation | - | GJA4, GJB6 and GJD2 were hypermethylated in 60% (29/48), 25% (12/48) and 96% (46/48) of primary colorectal carcinomas, respectively. |
Gene Details
| Gene Type | protein coding |
|---|---|
| Gene Family | Gap junction proteins |
| Description | This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Oct 2008] | Chromosome | 13 |
| Location | 13q11-q12 |
| Start | 20761602 |
| End | 20768605 |
| Strand | - |
| Gene Sequence | Download Select all |
| Length | 7004 |
| OMIM ID | 121011 |
| HGNC ID | HGNC:4284 |
| Unigene ID | - |
| Ensembl ID | ENSG00000165474 |
| PharmGKB ID | - |
Protein Information
| Protein ID | |
|---|---|
| Protein Name | gap junction protein beta 2 |
| Molecular Wt. (Da) | 0 |
| Protein Sequence | Download Select all |
| Length | 0 |
| Uniprot ID | P84098 |
| Ensembl Protein ID | ENSP00000225430 |
Post-translational Modification Information (Source : HPRD)
No matching records could be found.
Enzyme Information
No matching records could be found.
PPi Information
(Click to view network : Source STRING) View
No matching records from HPRD source could be found.
Pathway Information
No matching records could be found.
Structure Information
No matching records could be found.
Domain Information
| ID | Location | Description |
|---|---|---|
| pfam00029 | 2-108 | Connexin |
| cl02435 | 2-108 | Connexin superfamily |
| smart01089 | 146-213 | Connexin_CCC |
| cl11207 | 146-213 | Connexin_CCC superfamily |
| pfam10582 | 146-213 | Connexin_CCC |
| smart00037 | 42-75 | CNX |
Ontology Information
| HPRD ID | 1602 |
|---|---|
| Molecular Class | Not Available |
| Molecular Function | Structural constituent of ribosome (GO:0003735) |
| Biological Process | Protein metabolism (GO:0019538) |
Drug Information
No matching records could be found.