DIAPH1
Summary: This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:602121 Ensembl IDEnsembl:ENSG00000131504 HGNC IDHGNC:HGNC:2876 PHARMGKB IDPA27333 Map Location5q31.3 | |||||
GO terms in DIAPH1
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | HDA | GO:0003723 | RNA binding |
| MF | IEA | GO:0003779 | actin binding |
| MF | NAS | GO:0005102 | signaling receptor binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0017048 | Rho GTPase binding |
| MF | IPI | GO:0044325 | ion channel binding |
Gene expression in normal tissue: DIAPH1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in DIAPH1
Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2038 | Regulation of Microtubule Cytoskeleton |
| wikipathways | WP2324 | AGE-RAGE pathway |
| wikipathways | WP306 | Focal Adhesion |
| wikipathways | WP4241 | Type 2 papillary renal cell carcinoma |
| wikipathways | WP51 | Regulation of Actin Cytoskeleton |
| wikipathways | WP524 | G13 Signaling Pathway |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD409 | Saracatinib | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in DIAPH1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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