DTNA - dystrobrevin alpha Gene

Also Known as DTN; DRP3; DTN-A; LVNC1; D18S892E

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1837

About DTNA

Cytogenetic location: 18q12.1 Genomic coordinates (GRCh38): 18:34,493,312-34,891,844 (from NCBI)

This gene has 65 transcripts (splice variants), 225 orthologues, 36 paralogues and is associated with 2 phenotypes. Biased expression in brain (RPKM 27.5), heart (RPKM 10.7) and 10 other tissues.

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]

DTNA Products (44)

mRNA Protein Name
NM_001128175.2 NP_001121647.1 dystrobrevin alpha isoform 9
NM_001198938.2 NP_001185867.1 dystrobrevin alpha isoform 10
NM_001198939.2 NP_001185868.1 dystrobrevin alpha isoform 11
NM_001198940.2 NP_001185869.1 dystrobrevin alpha isoform 12
NM_001198941.2 NP_001185870.1 dystrobrevin alpha isoform 13
NM_001198942.1 NP_001185871.1 dystrobrevin alpha isoform 14
NM_001198943.1 NP_001185872.1 dystrobrevin alpha isoform 15
NM_001198944.1 NP_001185873.1 dystrobrevin alpha isoform 16
NM_001198945.2 NP_001185874.1 dystrobrevin alpha isoform 17
NM_001386753.1 NP_001373682.1 dystrobrevin alpha isoform 10
NM_001386754.1 NP_001373683.1 dystrobrevin alpha isoform 18
NM_001386755.1 NP_001373684.1 dystrobrevin alpha isoform 18
NM_001386756.1 NP_001373685.1 dystrobrevin alpha isoform 18
NM_001386757.1 NP_001373686.1 dystrobrevin alpha isoform 18
NM_001386758.1 NP_001373687.1 dystrobrevin alpha isoform 18
NM_001386759.1 NP_001373688.1 dystrobrevin alpha isoform 18
NM_001386760.1 NP_001373689.1 dystrobrevin alpha isoform 19
NM_001386761.1 NP_001373690.1 dystrobrevin alpha isoform 2
NM_001386762.1 NP_001373691.1 dystrobrevin alpha isoform 20
NM_001386763.1 NP_001373692.1 dystrobrevin alpha isoform 12
NM_001386764.1 NP_001373693.1 dystrobrevin alpha isoform 12
NM_001386765.1 NP_001373694.1 dystrobrevin alpha isoform 12
NM_001386766.1 NP_001373695.1 dystrobrevin alpha isoform 12
NM_001386767.1 NP_001373696.1 dystrobrevin alpha isoform 12
NM_001386768.1 NP_001373697.1 dystrobrevin alpha isoform 21
NM_001386769.1 NP_001373698.1 dystrobrevin alpha isoform 21
NM_001386770.1 NP_001373699.1 dystrobrevin alpha isoform 22
NM_001386771.1 NP_001373700.1 dystrobrevin alpha isoform 13
NM_001386772.1 NP_001373701.1 dystrobrevin alpha isoform 13
NM_001386773.1 NP_001373702.1 dystrobrevin alpha isoform 23
NM_001386774.1 NP_001373703.1 dystrobrevin alpha isoform 23
NM_001386775.1 NP_001373704.1 dystrobrevin alpha isoform 7
NM_001386776.1 NP_001373705.1 dystrobrevin alpha isoform 9
NM_001386777.1 NP_001373706.1 dystrobrevin alpha isoform 9
NM_001386788.1 NP_001373717.1 dystrobrevin alpha isoform 24
NM_001386795.1 NP_001373724.1 dystrobrevin alpha isoform 24
NM_001390.5 NP_001381.2 dystrobrevin alpha isoform 1
NM_001391.5 NP_001382.2 dystrobrevin alpha isoform 3
NM_001392.5 NP_001383.2 dystrobrevin alpha isoform 7
NM_032975.4 NP_116757.2 dystrobrevin alpha isoform 2
NM_032978.7 NP_116760.2 dystrobrevin alpha isoform 4
NM_032979.5 NP_116761.2 dystrobrevin alpha isoform 5
NM_032980.4 NP_116762.2 dystrobrevin alpha isoform 6
NM_032981.5 NP_116763.1 dystrobrevin alpha isoform 8
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
9356463 GOA
Cellular Component GO Annotation Evidence References Source
part of protein-containing complex IDA
IDA: Inferred from direct assay
18468998 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DTNA Protein Structure

EF-hand_2

EF-hand_2: EF hand (15 - 140)

EF-hand_3

EF-hand_3: EF-hand (144 - 232)

ZZ

ZZ: Zinc finger, ZZ type (240 - 280)

  • 0
  • 200
  • 400
  • 600
  • 743 a.a.
Protein Preferred Names Protein Names

dystrobrevin alpha

  • dystrophin-related protein 3

DTNA Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
DTNA Q9Y4J8 DMD Homo sapiens P11532 10767429
Intra
DTNA Q9Y4J8 UTRN Homo sapiens P46939 10767429
Intra
DTNA Q9Y4J8 CTNNAL1 Homo sapiens Q9UBT7 21115837
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Left Ventricular Noncompaction 1
  • LVNC1

  • Left Ventricular Noncompaction 1, With Or Without Congenital Heart Defects

  • Left Ventricular Noncompaction 1 With Or Without Congenital Heart Defects

  • Left Ventricular Non-Compaction 1

  • Left Ventricular Non-Compaction With Or Without Congenital Heart Defects

  • Non-Compaction Of Left Ventricular Myocardium Isolated Autosomal Dominant Type 1

  • Non-Compaction Of Left Ventricular Myocardium With Congenital Heart Defects

  • Ventricular Noncompaction, Left, Type 1

  • Noncompaction Of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 1

Left Ventricular Noncompaction
  • Noncompaction Cardiomyopathy

  • Left Ventricular Hypertrabeculation

  • Lvnc

  • Spongy Myocardium

  • Isolated Noncompaction Of The Ventricular Myocardium

  • Left Ventricular Myocardial Noncompaction Cardiomyopathy

  • Fetal Myocardium

  • Honeycomb Myocardium

  • Hypertrabeculation Syndrome

  • Left Ventricular Non-Compaction

  • Lvht

  • Non-Compaction Of The Left Ventricular Myocardium

  • Ventricular Noncompaction, Left

  • Non-Compaction Cardiomyopathy

Meniere Disease
  • Meniere'S Disease

  • Otogenic Vertigo

  • Ménière Disease

  • Ménière'S Disease

  • Mnire'S Vertigo

  • Auditory Vertigo

  • Aural Vertigo

  • Meniere'S Syndrome

  • Ménière'S Vertigo

  • Primary Endolymphatic Hydrops

  • Menieres Disease

  • Vertigo, Aural

  • Labyrinth Hydrops

  • Labyrinthine Hydrops

  • Labyrinthine Vertigo

  • Ménière Syndrome

  • Ménière Vertigo

  • Idiopathic Endolymphatic Hydrops

Barth Syndrome
  • 3-Methylglutaconic Aciduria Type 2

  • BTHS

  • Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria

  • Mga Type Ii

  • Mga2

  • Mgca2

  • Mga Type 2

  • 3-Methylglutaconic Aciduria Type Ii

  • 3-Methylglutaconic Aciduria, Type Ii

  • Mga, Type Ii

  • 3-Methylglutaconicaciduria Type 2

  • 3-Methylglutaconicaciduria Type Ii

  • Taz Defect

  • 3 Methylglutaconic Aciduria, Type Ii

  • Dnajc19 Defect

  • Cardioskeletal Myopathy-Neutropenia Syndrome

  • X-Linked Cardioskeletal Myopathy And Neutropenia

  • 3-Alpha-Methylglutaconic Aciduria Type 2

  • Agm2

  • Cardioskeletal Myopathy-Neutropenia

  • Invm

  • Left Ventricular Non-Compaction Isolated X-Linked

  • Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked

  • Agammaglobulinemia 2, Autosomal Recessive

Muscular Dystrophy
  • Muscular Dystrophies

  • Congenital Md

  • Congenital Muscular Dystrophy

  • Cmd

  • Mdc

  • Dystrophy, Muscular

  • Gower'S Muscular Dystrophy

  • Progressive Musclular Dystrophy

  • Pseudohypertrophic Atrophy

  • Pseudohypertrophic Muscle Paralysis

  • Pseudohypertrophic Muscular Atrophy

  • Pseudohypertrophic Muscular Dystrophy

  • Pseudohypertrophic Paralysis

  • Pseudomuscular Hypertrophy

Peripheral Vertigo
  • Vertigo, Peripheral

Muscular Dystrophy, Duchenne Type
  • Duchenne Muscular Dystrophy

  • DMD

  • Muscular Dystrophy, Duchenne

  • Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type

  • Severe Dystrophinopathy, Duchenne Type

  • Muscular Dystrophy Duchenne

  • Dystrophy, Muscular, Duchenne Type

  • Benign Duchenne Muscular Dystrophy

  • Duchenne Motor Neuron Disease

  • Duchenne Type Dystrophy

  • Duchenne-Griesinger Disease

Ebstein Anomaly
  • Ebstein'S Anomaly

  • Ebstein'S Anomaly Of Common Atrioventricular Valve

  • Ebstein'S Anomaly Of Right Atrioventricular Valve

  • Ebstein'S Anomaly Of Tricuspid Valve

  • Ebstein'S Malformation

  • Ebstein Malformation Of The Tricuspid Valve

  • Ebstein Anomaly Of The Tricuspid Valve

  • Ebstein Disease

  • Accessory Tricuspid Valve Tissue

  • Congenital Ebstein Deformity Of Tricuspid Valve

  • Ebstein Syndrome

  • Ebstein Cardiopathy

  • Ebstein Anomaly Of Tricuspid Valve

Myopathy
  • Muscular Diseases

  • Myopathies

Muscular Dystrophy, Becker Type
  • Becker Muscular Dystrophy

  • BMD

  • Benign Pseudohypertrophic Muscular Dystrophy

  • Benign Congenital Myopathy

  • Becker Dystrophinopathy

  • Becker'S Muscular Dystrophy

  • Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type

  • Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type

  • Muscular Dystrophy Becker

  • Dystrophy, Muscular, Becker Type

  • Dystrophinopathy

  • Becker Dystrophy

  • Becker Type Dystrophy

  • Bmd - [Becker Muscular Dystrophy]

Vestibular Disease
  • Vestibular Diseases

  • Vertigo, Vestibular Disorder

  • Vestibular Disorder

  • Diseases Of Inner Ear

Muscular Dystrophy, Congenital, Lmna-Related
  • Congenital Muscular Dystrophy

  • Congenital Muscular Dystrophy Due To Lmna Mutation

  • MDCL

  • L-Cmd

  • Lmna-Related Congenital Muscular Dystrophy

  • Muscular Dystrophy, Congenital

  • Congenital Muscular Dystrophy Lmna-Related

  • Lmna-Related Cmd

  • Cmd

  • Mdc

  • Muscular Dystrophy Congenital Lmna-Related

  • Dystrophy, Muscular, Congenital, Lmna-Related

  • Dystrophy, Muscular, Congenital

  • Hereditary Muscular Dystrophy

  • Congenital Hereditary Muscular Dystrophy

  • Congenital Progressive Muscular Dystrophy

  • Hereditary Progressive Muscular Dystrophy

Autosomal Recessive Limb-Girdle Muscular Dystrophy
  • Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

Congenital Myasthenic Syndrome
  • Congenital Myasthenia

  • Congenital Myasthenic Syndromes

  • Cms

  • Myasthenic Syndromes, Congenital

  • Myasthenic Syndromes Congenital

  • Myasthenic Syndrome, Congenital

  • Congenital Myasthenic Syndrome Ib

  • Congenital And Developmental Myasthenia

  • Developmental Myasthenia

Neuromuscular Disease
  • Neuromuscular Diseases

  • Neuromuscular Disorders

  • Neuromuscular Disorder

Hypertrophic Cardiomyopathy
  • Hypertrophic Obstructive Cardiomyopathy

  • Cardiomyopathy, Hypertrophic

  • Cardiomyopathy Hypertrophic Obstructive

  • Cardiomyopathy, Hypertrophic, Familial

  • Idiopathic Myocardial Hypertrophy

  • Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Cardiomyopathy

  • Idiopathic Hypertrophic Subaortic Stenosis

  • Muscular Subaortic Stenosis

  • Hypertrophic Obstructive Subaortic Stenosis

Dilated Cardiomyopathy
  • Familial Dilated Cardiomyopathy

  • Primary Dilated Cardiomyopathy

  • Idiopathic Dilated Cardiomyopathy

  • Congestive Cardiomyopathy

  • Idiopathic Dilation Cardiomyopathy

  • Primary Familial Dilated Cardiomyopathy

  • Cardiomyopathy, Dilated

  • DCM

  • Cardiomyopathy, Familial Dilated

  • Dilated Cardiomyopathy, Familial

  • Hypokinetic Dilated Cardiomyopathy, Familial

  • Familial Idiopathic Cardiomyopathy

  • Fdc

  • Cardiomyopathy, Familial Idiopathic

  • Idiopathic Cardiomegaly

  • Dilated Congestive Cardiomyopathy

  • Chronic Dilated Cardiomyopathy

  • Ccm - [Congestive Cardiomyopathy]

  • Cocm - [Congestive Cardiomyopathy]

  • Dcm - [Dilated Cardiomyopathy]

  • Dilated-Hypokinetic Cardiomyopathy

  • Congestive Idiopathic Cardiomyopathy

  • Primary Idiopathic Dilated Cardiomyopathy

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus DTNA VGNC VGNC:61643
Mus musculus DTNA MGD MGI:106039
Macaca mulatta DTNA VGNC VGNC:72007
Rattus norvegicus DTNA RGD RGD:1561985
Canis familiaris DTNA VGNC VGNC:40114
Bos taurus DTNA VGNC VGNC:28231
Others DTNA NCBI