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General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| GJB6 | 10804 | gap junction protein beta 6 | 13 | ED2; EDH; HED; CX30; HED2; DFNA3; ECTD2; DFNA3B; DFNB1B |
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
- PPi
- Pathway
- Structural
- Domain
- Ontology
- SNP
- Drug
- External Links
Evidence Information
No matching records could be found.
Gene Details
| Gene Type | protein coding |
|---|---|
| Gene Family | Gap junction proteins |
| Description | Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008] | Chromosome | 13 |
| Location | 13q12 |
| Start | 20796101 |
| End | 20806534 |
| Strand | - |
| Gene Sequence | Download Select all |
| Length | 10434 |
| OMIM ID | 604418 |
| HGNC ID | HGNC:4288 |
| Unigene ID | Hs.511757 |
| Ensembl ID | ENSG00000121742 |
| PharmGKB ID | PA28699 |
mRNA Information
No matching records could be found.
CDS Information
No matching records could be found.
Protein Information
| Protein ID | |
|---|---|
| Protein Name | gap junction protein beta 6 |
| Molecular Wt. (Da) | 0 |
| Protein Sequence | Download Select all |
| Length | 0 |
| Uniprot ID | Q53EL6 |
| Ensembl Protein ID | ENSP00000280154 |
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
| Interactant Gene ID (Source: HPRD) | Gene Symbol | HPRD ID | Ref Seq ID | Technique | References |
|---|---|---|---|---|---|
| 2706 | GJB2 | 413 | NP_003995.2 | in vivo | 14595769 |
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 |
| pfam06557 | 125-194 | DUF1122 |
| cl01800 | 125-194 | DUF1122 superfamily |
Ontology Information
| HPRD ID | 6726 |
|---|---|
| Molecular Class | Not Available |
| Molecular Function | Molecular function unknown (GO:0005554) |
| Biological Process | Biological_process unknown (GO:0000004) |
SNP Information
No matching records could be found.
Drug Information
No matching records could be found.
External Links
No matching records could be found.