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 |
|---|---|---|---|---|---|
| dystrobrevin alpha | MIM:601239 | Ensembl:ENSG00000134769 | HGNC:HGNC:3057 | PA27510 | 18q12.1 |
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 |
| CC | IEA | GO:0031234 | extrinsic component of cytoplasmic side of plasma membrane |
| CC | IDA | GO:0032991 | protein-containing complex |
| CC | IEA | GO:0042383 | sarcolemma |
| CC | IEA | GO:0045202 | synapse |
| BP | TAS | GO:0006941 | striated muscle contraction |
| BP | TAS | GO:0007165 | signal transduction |
| BP | TAS | GO:0007268 | chemical synaptic transmission |
| BP | TAS | GO:0007274 | neuromuscular synaptic transmission |
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. |
|---|
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in DTNA
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