• Gene id: 1837

Gene Summary

• Gene Symbol: DTNA   Gene   UCSC   Ensembl
• Aliases: D18S892E, DRP3, DTN, DTN-A, LVNC1
• Gene name: dystrobrevin alpha
• Alternate names: dystrobrevin alpha, dystrophin-related protein 3,
• Gene location: 18q12.1 (120117468: 120095093)     Exons: 6     NC_000012.12
• Gene summary(Entrez): 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 prot
• OMIM: 601239

Protein Summary

• Protein general information: Q9Y4J8  
  • Name: Dystrobrevin alpha (DTN A) (Alpha dystrobrevin) (Dystrophin related protein 3)
  • Length: 743  
  • Mass: 83901
  • Tissue specificity: Highly expressed in brain, skeletal and cardiac muscles, and expressed at lower levels in lung, liver and pancreas. Isoform 2 is not expressed in cardiac muscle. Isoform 7 and isoform 8 are only expressed in muscle.
• Sequence:

  MIEDSGKRGNTMAERRQLFAEMRAQDLDRIRLSTYRTACKLRFVQKKCNLHLVDIWNVIEALRENALNNLDPNTE
  LNVSRLEAVLSTIFYQLNKRMPTTHQIHVEQSISLLLNFLLAAFDPEGHGKISVFAVKMALATLCGGKIMDKLRY
  IFSMISDSSGVMVYGRYDQFLREVLKLPTAVFEGPSFGYTEQSARSCFSQQKKVTLNGFLDTLMSDPPPQCLVWL
  PLLHRLANVENVFHPVECSYCHSESMMGFRYRCQQCHNYQLCQDCFWRGHAGGSHSNQHQMKEYTSWKSPAKKLT
  NALSKSLSCASSREPLHPMFPDQPEKPLNLAHIVDTWPPRPVTSMNDTLFSHSVPSSGSPFITRSSPPKDSEVEQ
  NKLLARAAPAFLKGKGIQYSLNVADRLADEHVLIGLYVNMLRNNPSCMLESSNRLDEEHRLIARYAARLAAESSS
  SQPPQQRSAPDISFTIDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEKAQQNPTLLAELRLLRQRK
  DELEQRMSALQESRRELMVQLEGLMKLLKTQGAGSPRSSPSHTISRPIPMPIRSASACSTPTHTPQDSLTGVGGD
  VQEAFAQSSRRNLRNDLLVAADSITNTMSSLVKELNSEVGSETESNVDSEFARTQFEDLVPSPTSEKAFLAQIHA
  RKPGYIHSGATTSTMRGDMVTEDADPYVQPEDENYENDSVRQLENELQMEEYLKQKLQDEAYQVSLQG

• Structural information:
  • Interpro: IPR017432  IPR011992  IPR015153  IPR015154  IPR000433  
  • Prosite: PS01357 PS50135
  • PDB: 2E5R
  • PDBsum: 2E5R
  • STRING: ENSP00000470152
• Other Databases: GeneCards:  DTNA  Malacards:  DTNA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0045202	synapse	IBA	cellular component
GO:0099536	synaptic signaling	IBA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0006941	striated muscle contraction	TAS	biological process
GO:0007274	neuromuscular synaptic transmission	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0007268	chemical synaptic transmission	TAS	biological process
GO:0032991	protein-containing complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0031234	extrinsic component of cytoplasmic side of plasma membrane	IEA	cellular component
GO:0030165	PDZ domain binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Left ventricular noncompaction	KEGG:H01216
Left ventricular noncompaction	KEGG:H01216
Cardiomyopathy	PMID:11238270
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq