InnateDB: Systems Biology of the Innate Immune Response

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

ENSMUSG00000024302

View Gene Order

ENSBTAG00000012307

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