Homo sapiens Gene: DTNA | |||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Summary | |||||||||||||||||||||||
InnateDB Gene | IDBG-2362.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | DTNA | ||||||||||||||||||||||
Gene Name | dystrobrevin, alpha | ||||||||||||||||||||||
Synonyms | D18S892E; DRP3; DTN; DTN-A; LVNC1 | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Gene | ENSG00000134769 | ||||||||||||||||||||||
Encoded Proteins |
dystrobrevin, alpha
dystrobrevin, alpha
dystrobrevin, alpha
dystrobrevin, alpha
dystrobrevin, alpha
dystrobrevin, alpha
dystrobrevin, alpha
dystrobrevin, alpha
dystrobrevin, alpha
|
||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||
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] |
||||||||||||||||||||||
Gene Information | |||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||
Genomic Location | Chromosome 18:34493290-34891844 | ||||||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||||||
Band | q12.1 | ||||||||||||||||||||||
Transcripts | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
|
||||||||||||||||||||||
Gene Ontology | |||||||||||||||||||||||
Molecular Function |
|
||||||||||||||||||||||
Biological Process |
|
||||||||||||||||||||||
Cellular Component |
|
||||||||||||||||||||||
Orthologs | |||||||||||||||||||||||
Species
Mus musculus
Bos taurus
|
Gene ID
Gene Order
Not yet available
|
||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||
UniGene | Hs.596489 Hs.603661 Hs.643454 Hs.714439 | ||||||||||||||||||||||
RefSeq | NM_001128175 NM_001198938 NM_001198939 NM_001198940 NM_001198941 NM_001198942 NM_001198943 NM_001198944 NM_001198945 NM_001390 NM_001391 NM_001392 NM_032975 NM_032978 NM_032979 NM_032980 NM_032981 XM_005258219 XM_005258220 XM_005258223 XM_006722406 XM_006722407 XM_006722408 XM_006722409 XM_006722410 XM_006722415 | ||||||||||||||||||||||
HUGO | |||||||||||||||||||||||
OMIM | |||||||||||||||||||||||
CCDS | CCDS11908 CCDS11909 CCDS42426 CCDS45848 CCDS56060 CCDS56061 CCDS56062 CCDS56063 CCDS59309 CCDS59310 CCDS59311 CCDS59312 CCDS59313 CCDS59314 | ||||||||||||||||||||||
HPRD | 03141 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | |||||||||||||||||||||||
GenPept | |||||||||||||||||||||||
RNA Seq Atlas | |||||||||||||||||||||||