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
ENST00000283365 ENSP00000283365
ENST00000315456 ENSP00000322519
ENST00000348997 ENSP00000336682
ENST00000269192 ENSP00000269192
ENST00000399121 ENSP00000382072
ENST00000399113 ENSP00000382064
ENST00000444659 ENSP00000405819
ENST00000554864 ENSP00000451516
ENST00000556414 ENSP00000452255
ENST00000591816 ENSP00000466573
ENST00000595022 ENSP00000473078
ENST00000601895
ENST00000588771
ENST00000597599 ENSP00000473119
ENST00000596745 ENSP00000469121
ENST00000590727 ENSP00000468138
ENST00000597674 ENSP00000471783
ENST00000588684 ENSP00000464904
ENST00000598774 ENSP00000472031
ENST00000601632
ENST00000598334 ENSP00000470152
ENST00000590412 ENSP00000465063
ENST00000588125 ENSP00000466978
ENST00000592114
ENST00000588506
ENST00000599844 ENSP00000470934
ENST00000587723 ENSP00000468262
ENST00000590831 ENSP00000471143
ENST00000590598 ENSP00000468473
ENST00000592449
ENST00000585446
ENST00000591182 ENSP00000467720
ENST00000588949 ENSP00000468631
ENST00000598142 ENSP00000470716
ENST00000601125 ENSP00000470247
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.
Experimentally validated
Total 23 [view]
Protein-Protein 23 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0030165 PDZ domain binding
Biological Process
GO:0006941 striated muscle contraction
GO:0007165 signal transduction
GO:0007268 synaptic transmission
GO:0007274 neuromuscular synaptic transmission
Cellular Component
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0030054 cell junction
GO:0030424 axon
GO:0031234 extrinsic component of cytoplasmic side of plasma membrane
GO:0042383 sarcolemma
GO:0042995 cell projection
GO:0043234 protein complex
GO:0045202 synapse
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
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