DTNA (dystrobrevin alpha)

Gene

• Entrez ID: 1837
• Gene name: Dystrobrevin alpha
• Gene symbol: DTNA
• Synonyms: D18S892E, DRP3, DTN, DTN-A, LVNC1
• Chromosome: 18
• Chromosome location: 18q12.1
• 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894654	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, missense variant
rs139872140	C>T	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, coding sequence variant, genic downstream transcript variant
rs141981161	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant, non coding transcript variant, initiator codon variant
rs147782267	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs148123045	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, non coding transcript variant, coding sequence variant
rs191973037	A>C	Conflicting-interpretations-of-pathogenicity	Intron variant, 3 prime UTR variant
rs775975702	A>G	Pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs1057518968	A>G	Likely-pathogenic	Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT658861	hsa-miR-8485	HITS-CLIP	23824327

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	11353857, 19931615, 21115837
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0006941	Process	Striated muscle contraction	TAS	10767327
GO:0007165	Process	Signal transduction	TAS	10767327
GO:0007268	Process	Chemical synaptic transmission	TAS	8845841
GO:0007274	Process	Neuromuscular synaptic transmission	TAS	9119373
GO:0008270	Function	Zinc ion binding	IEA
GO:0030054	Component	Cell junction	IDA
GO:0032991	Component	Protein-containing complex	IDA	18468998
GO:0045111	Component	Intermediate filament cytoskeleton	IDA
GO:0045202	Component	Synapse	IBA	21873635
GO:0099536	Process	Synaptic signaling	IBA	21873635

Other IDs

• MIM: 601239
• HGNC: 3057
• e!Ensembl: ENSG00000134769

Protein

• UniProt ID: Q9Y4J8
• Protein name: Dystrobrevin alpha (DTN-A) (Alpha-dystrobrevin) (Dystrophin-related protein 3)
• Protein function: May be involved in the formation and stability of synapses as well as being involved in the clustering of nicotinic acetylcholine receptors.
• PDB: 2E5R
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09068	EF-hand_2	16 → 140	EF hand	Domain
  PF09069	EF-hand_3	144 → 232	EF-hand	Domain
  PF00569	ZZ	238 → 282	Zinc finger, ZZ type	Domain

• Sequence:

  MIEDSGKRGNTMAERRQLFAEMRAQDLDRIRLSTYRTACKLRFVQKKCNLHLVDIWNVIE
  ALRENALNNLDPNTELNVSRLEAVLSTIFYQLNKRMPTTHQIHVEQSISLLLNFLLAAFD
  PEGHGKISVFAVKMALATLCGGKIMDKLRYIFSMISDSSGVMVYGRYDQFLREVLKLPTA
  VFEGPSFGYTEQSARSCFSQQKKVTLNGFLDTLMSDPPPQCLVWLPLLHRLANVENVFHP
  VECSYCHSESMMGFRYRCQQCHNYQLCQDCFWRGHAGGSHSNQHQMKEYTSWKSPAKKLT
  NALSKSLSCASSREPLHPMFPDQPEKPLNLAHIVDTWPPRPVTSMNDTLFSHSVPSSGSP
  FITRSSPPKDSEVEQNKLLARAAPAFLKGKGIQYSLNVADRLADEHVLIGLYVNMLRNNP
  SCMLESSNRLDEEHRLIARYAARLAAESSSSQPPQQRSAPDISFTIDANKQQRQLIAELE
  NKNREILQEIQRLRLEHEQASQPTPEKAQQNPTLLAELRLLRQRKDELEQRMSALQESRR
  ELMVQLEGLMKLLKTQGAGSPRSSPSHTISRPIPMPIRSASACSTPTHTPQDSLTGVGGD
  VQEAFAQSSRRNLRNDLLVAADSITNTMSSLVKELNSEVGSETESNVDSEFARTQFEDLV
  PSPTSEKAFLAQIHARKPGYIHSGATTSTMRGDMVTEDADPYVQPEDENYENDSVRQLEN
  ELQMEEYLKQKLQDEAYQVSLQG

• Sequence length: 743

Associated diseases

Disease name	Disease term	References
	Atrial Fibrillation
	Cardiomyopathies
	Left ventricular noncompaction cardiomyopathy
	Congestive heart failure
	Hypoplastic Left Heart Syndrome
	Left Ventricular Hypertrophy
	Left ventricular noncompaction	11238270
	NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1	11238270
	Meniere Disease	25305078
	Noncompaction cardiomyopathy
	Patent ductus arteriosus
	Ventricular arrhythmia
	Ventricular Septal Defects