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 NCBI 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 chimpanzee; 1 rhesus macaque; 1 cattle; 1 chicken; 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

Alleles and phenotypes

All alleles(7) : Targeted(1) Gene trapped(6)
 

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.

 
Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (13 annotations)

Component	cell junction, cytoplasm, ...
Function	calcium ion binding, metal ion binding, ...

External Resources: FuncBase

Expression

Literature Summary: (13 records)

Data Summary: Results (325)    Tissues (190)    Images (90)
Theiler Stages: 13, 15, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 28

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

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

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

Sequences

Length	Strain/Species
genomic	13527	NCBI Gene Model | MGI Sequence Detail	244300	C57BL/6J
transcript	NM_001285813	RefSeq | MGI Sequence Detail	6376	C57BL/6
polypeptide	Q9D2N4	UniProt | EBI | MGI Sequence Detail	746	Not Applicable

All sequences(170) RefSeq(72) UniProt(8)

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

Graphical View of Protein Domain Structure

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(64)

Other accession IDs

MGD-MRK-33723, MGI:1915272