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General Information
- 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 |
|---|---|---|---|---|---|---|
| 22493364 | 2012 | Cell line : - Source : Showa University Fujigaoka Hospital Sample Type : - No. of Sample : - Stage : - | quantitative methylation-specific PCR (qMSP) | Methylation | - | DFNA5 gene methylation as a novel molecular?biomarker?in?colorectal cancer. DFNA5 might act as a tumor suppressor gene and DFNA5 gene methylation might play an important role in the development of colorectal cancer. Sample size: 85 tumor samples and corresponding normal tissues. |
Gene Details
| Gene Type | protein coding |
|---|---|
| Gene Family | |
| Description | Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. |
| Chromosome | 7 |
| Location | 7p15 |
| Start | 3857143 |
| End | 3885429 |
| Strand | - |
| Gene Sequence | Download Select all |
| Length | 28287 |
| OMIM ID | 608798 |
| HGNC ID | HGNC:2810 |
| Unigene ID | Hs.520708 |
| Ensembl ID | ENSG00000105928 |
| PharmGKB ID | - |
mRNA Information
| mRNA ID | NM_014704.3 |
|---|---|
| Exon | complement(<1..91) | mRNA Sequence | Download Select all |
| Length | 2276 |
CDS Information
| Location | join(462..575,1576..1724,8620..8858,10832..10911, 12463..12633,15330..15430,26365..26599) |
|---|---|
| CDS Sequence | Download Select all |
| CCDS ID | CCDS72693.1 |
Protein Information
| Protein ID | NP_001120925.1 |
|---|---|
| Protein Name | deafness, autosomal dominant 5 |
| Molecular Wt. (Da) | 54424 |
| Protein Sequence | Download Select all |
| Length | 496 |
| Uniprot ID | P08263 |
| Ensembl Protein ID | ENSP00000335620 |
Post-translational Modification Information (Source : HPRD)
| Residue | Type | site |
|---|---|---|
| S | Phosphorylation | 252 |
| Y | Phosphorylation | 254 |
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 |
|---|---|---|---|---|---|
| 5764 | PTN | 1199 | NP_002816.1 | yeast 2-hybrid | 16169070 |
Pathway Information
No matching records could be found.
Structure Information
No matching records could be found.
Domain Information
| ID | Location | Description |
|---|---|---|
| pfam04598 | 1-470 | Gasdermin |
| cl20270 | 1-470 | Gasdermin superfamily |
Ontology Information
| HPRD ID | 614 |
|---|---|
| Molecular Class | Unclassified |
| Molecular Function | Glutathione transferase activity (GO:0004364) |
| Biological Process | Metabolism (GO:0008152); Energy pathways (GO:0006091) |
Drug Information
No matching records could be found.