DTNA
Summary: The protein encoded by this gene belongs to the dystrobrevin subfamily of the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC), which consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Mutations in this gene are associated with left ventricular noncompaction with congenital heart defects. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:601239 Ensembl IDEnsembl:ENSG00000134769 HGNC IDHGNC:HGNC:3057 PHARMGKB IDPA27510 Map Location18q12.1 | |||||
GO terms in DTNA
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0008270 | zinc ion binding |
| MF | IEA | GO:0030165 | PDZ domain binding |
| CC | IEA | GO:0005737 | cytoplasm |
| CC | IEA | GO:0030054 | cell junction |
| CC | IEA | GO:0030424 | axon |
Gene expression in normal tissue: DTNA
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in DTNA
Database | Pathway ID | Pathway Des. |
|---|---|---|
| No matching records found | ||
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD309 | 17AAG | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in DTNA
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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