Dtna
Gene Detail

Symbol

Name
ID

Dtna
dystrobrevin alpha
MGI:106039

Synonyms

2210407P21Rik, 87K protein, A0, a-DB-1, adbn, alpha-dystrobrevin, Dtn

Feature Type

protein coding gene

Genetic Map

Chromosome 18
12.08 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr18:23415415-23659714 bp, + strand From Ensembl annotation of GRCm38   244300 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate
homology

HomoloGene:20362  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: distrobrevin
Gene Tree: Dtna

Human
homologs

Human Homolog		DTNA, dystrobrevin, alpha
NCBI Gene ID		1837
neXtProt AC		NX_Q9Y4J8
Human Synonyms		D18S892E, DRP3, DTN, DTN-A, LVNC1
Human Chr (Location)		18q12; chr18:34493290-34891844 (+)  GRCh38
Disease Associations		(1) Diseases Associated with Human DTNA

Mutations,
alleles, and
phenotypes

All mutations/alleles(7) : Gene trapped(6) Targeted(1)
Incidental mutations (data from Mutagenetix , APF )
 

Homozygous targeted mutants exhibit skeletal and cardiac myopathies. Neuromuscular junctions appear to form normally, but their postnatal maturation is compromised. Dtna mutations do not increase the severity of Dmd or Utrn mutants whose products are also part of the dystrophin-glycoprotein complex.

 
Mutations Annotated to Human Diseases (1)   

Interactions

Dtna interacts with 464 markers (Mir1a-1, Mir1a-2, Mir1b, ...)

View All

Gene Ontology
(GO)
classifications

All GO classifications: (17 annotations)

Component	axon, cell junction, ...
Function	metal ion binding, PDZ domain binding, ...

External Resources: FuncBase

Expression

Literature Summary: (13 records)

Data Summary: Results (325)    Tissues (194)    Images (90)    Tissue x Stage Matrix (view)

Assay Type	Results
Immunohistochemistry	124
RNA in situ	139
Western blot	7
RT-PCR	55

cDNA source data(21)
External Resources: Allen Institute   GEO   Expression Atlas

Molecular
reagents

All nucleic(33) Genomic(3) cDNA(26) Primer pair(4)
Microarray probesets(9)

Other database
links

Ensembl Gene Model	ENSMUSG00000024302 (Evidence)
Entrez Gene	13527 (Evidence)
DFCI	TC1580290, TC1587820, TC1583715, TC1588833, TC1599521, TC1622870, TC1594198, TC1589021, TC1699827, TC1644790
DoTS	DT.50316348, DT.101360547, DT.101375169, DT.110776010, DT.101375171, DT.101375170, DT.55282735, DT.55122692, DT.55117944, DT.60101497, DT.91359423, DT.91393353, DT.91369218
NIA Mouse Gene Index	U056950, U018474
Consensus CDS Project	CCDS29094.1, CCDS50236.1
International Mouse Knockout Project Status	Dtna

Sequences

Length	Strain/Species
genomic	ENSMUSG00000024302	Ensembl Gene Model | MGI Sequence Detail	244300	C57BL/6J
transcript	ENSMUST00000115832	Ensembl | MGI Sequence Detail	6321	Not Applicable
polypeptide	ENSMUSP00000111498	Ensembl | MGI Sequence Detail	682	Not Applicable

All sequences(177) RefSeq(72) UniProt(15)

Polymorphisms

PCR(1) : SNPs within 2kb(1972 from dbSNP Build 137)

Protein-related
information

Resource	ID	Description
InterPro	IPR017432	Distrobrevin
InterPro	IPR015153	EF-hand domain, type 1
InterPro	IPR015154	EF-hand domain, type 2
InterPro	IPR011992	EF-hand-like domain
InterPro	IPR000433	Zinc finger, ZZ-type
Protein Ontology	PR:000006717	dystrobrevin alpha

References

(Earliest) J:32261 Blake DJ, et al., Isoform diversity of dystrobrevin, the murine 87-kDa postsynaptic protein. J Biol Chem. 1996 Mar 29;271(13):7802-10
(Latest) J:193641 Nakano Y, et al., A mutation in the Srrm4 gene causes alternative splicing defects and deafness in the Bronx waltzer mouse. PLoS Genet. 2012;8(10):e1002966
All references(65)

Other
accession IDs

MGD-MRK-33723, MGI:1915272