1. Gene
  2. DTNB - dystrobrevin beta Gene

DTNB - dystrobrevin beta Gene

中文名称:dystrobrevin beta

种属: Homo sapiens

基因 ID: 1838 | 基因类型: protein coding

关于 DTNB

Cytogenetic location: 2p23.3 Genomic coordinates (GRCh38): 2:25,377,243-25,673,577 (from NCBI)

This gene has 30 transcripts (splice variants), 45 orthologues and 36 paralogues. Ubiquitous expression in salivary gland (RPKM 3.0), brain (RPKM 2.3) and 25 other tissues.

功能概要

该基因编码 dystrobrevin beta,这是抗肌萎缩蛋白相关蛋白复合物 (DPC) 的一个组成部分。 DPC 由抗肌萎缩蛋白和几种完整的和外周膜蛋白组成,包括抗肌萎缩蛋白聚糖、肌聚糖、抗肌萎缩蛋白和抗肌萎缩蛋白 alpha 和 beta。 DPC 定位于肌膜,其破坏与各种形式的肌营养不良症有关。 Dystrobrevin beta 被认为与 syntrophin 和 DP71 short form of dystrophin 相互作用。[RefSeq 提供,2016 年 3 月]

This gene encodes dystrobrevin beta, a component of the dystrophin-associated protein complex (DPC). The DPC consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and dystrobrevin alpha and beta. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Dystrobrevin beta is thought to interact with syntrophin and the DP71 short form of dystrophin. [provided by RefSeq, Mar 2016]

DTNB 基因产物(30)

mRNA Protein Name
NM_001256303.2 NP_001243232.1 dystrobrevin beta isoform 6
NM_001256304.3 NP_001243233.1 dystrobrevin beta isoform 7
NM_001256308.2 NP_001243237.1 dystrobrevin beta isoform 8
NM_001320932.2 NP_001307861.1 dystrobrevin beta isoform 9
NM_001320933.2 NP_001307862.1 dystrobrevin beta isoform 10
NM_001320934.2 NP_001307863.1 dystrobrevin beta isoform 11
NM_001320935.2 NP_001307864.1 dystrobrevin beta isoform 12
NM_001320936.2 NP_001307865.1 dystrobrevin beta isoform 13
NM_001320937.2 NP_001307866.1 dystrobrevin beta isoform 14
NM_001351381.2 NP_001338310.1 dystrobrevin beta isoform 15
NM_001351382.2 NP_001338311.1 dystrobrevin beta isoform 16
NM_001351383.2 NP_001338312.1 dystrobrevin beta isoform 17
NM_001351384.2 NP_001338313.1 dystrobrevin beta isoform 18
NM_001351385.2 NP_001338314.1 dystrobrevin beta isoform 19
NM_001351386.2 NP_001338315.1 dystrobrevin beta isoform 20
NM_001351387.2 NP_001338316.1 dystrobrevin beta isoform 21
NM_001351388.2 NP_001338317.1 dystrobrevin beta isoform 22
NM_001351389.2 NP_001338318.1 dystrobrevin beta isoform 23
NM_001351390.2 NP_001338319.1 dystrobrevin beta isoform 24
NM_001351391.2 NP_001338320.1 dystrobrevin beta isoform 25
NM_001351392.2 NP_001338321.1 dystrobrevin beta isoform 26
NM_001351393.2 NP_001338322.1 dystrobrevin beta isoform 27
NM_001351394.2 NP_001338323.1 dystrobrevin beta isoform 28
NM_001351395.2 NP_001338324.1 dystrobrevin beta isoform 29
NM_001394686.1 NP_001381615.1 dystrobrevin beta isoform 30
NM_021907.5 NP_068707.1 dystrobrevin beta isoform 1
NM_033147.4 NP_149159.2 dystrobrevin beta isoform 2
NM_033148.4 NP_149160.1 dystrobrevin beta isoform 3
NM_183360.3 NP_899204.1 dystrobrevin beta isoform 4
NM_183361.3 NP_899205.1 dystrobrevin beta isoform 5
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in neuron differentiation IMP
IMP: 通过突变表型推断
27223470 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
27223470 GOA
located in nucleus IDA
IDA: 通过直接分析推断
27223470 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

DTNB 蛋白结构

EF-hand_2

EF-hand_2: EF hand (16 - 140)

EF-hand_3

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

ZZ

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

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 627 a.a.
蛋白主名 其他名称

dystrobrevin beta

DTN-B

DTNB 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra DTNB O60941 KRT40 Homo sapiens Q6A162
Validated Y2H
25416956
Intra DTNB O60941 DMD Homo sapiens P11532
Anti Tag CoIP
33961781
Intra DTNB O60941 DMD Homo sapiens P11532
Y2H Array
25416956
Intra DTNB O60941 NUP62 Homo sapiens P37198
Y2H Pooling
16189514
Intra DTNB O60941 NUP62 Homo sapiens P37198
Y2H Array
31515488
Intra DTNB O60941 NUP62 Homo sapiens P37198
Y2H Prey Pooling
25416956
Intra DTNB O60941 VCP Homo sapiens P55072
Y2H Prey Pooling
25416956
Intra DTNB O60941 VCP Homo sapiens P55072
Y2H Array
25416956
Intra DTNB O60941 TRAF2 Homo sapiens Q12933
Y2H Prey Pooling
25416956
Intra DTNB O60941 TRAF2 Homo sapiens Q12933
Validated Y2H
25416956
Intra DTNB O60941 TRAF2 Homo sapiens Q12933
Y2H Pooling
16189514
Intra DTNB O60941 TXLNA Homo sapiens P40222
Y2H Array
31515488
Intra DTNB O60941 TXLNA Homo sapiens P40222
Y2H Array
25416956
Intra DTNB O60941 ZBTB9 Homo sapiens Q96C00
Y2H Array
31515488
Intra DTNB O60941 ZBTB9 Homo sapiens Q96C00
Y2H Prey Pooling
25416956
Intra DTNB O60941 ZBTB9 Homo sapiens Q96C00
Y2H Array
25416956
Intra DTNB O60941 GGA1 Homo sapiens Q9UJY5
Validated Y2H
25416956
Intra DTNB O60941 GGA1 Homo sapiens Q9UJY5
MAPPIT
25416956
Intra DTNB O60941 GGA1 Homo sapiens Q9UJY5
Y2H Array
25416956
Intra DTNB O60941 GGA1 Homo sapiens Q9UJY5
Y2H Prey Pooling
25416956
Intra DTNB O60941 DTNBP1 Homo sapiens Q96EV8
Y2H Prey Pooling
25416956
Intra DTNB O60941 CTNNAL1 Homo sapiens Q9UBT7
Far-WB
21115837
Intra DTNB O60941 USHBP1 Homo sapiens Q8N6Y0
Validated Y2H
25416956
Intra DTNB O60941 HMG20A Homo sapiens Q9NP66
Y2H Pooling
16189514
Intra DTNB O60941 HMG20A Homo sapiens Q9NP66
Y2H Array
25416956
Intra DTNB O60941 CEP63 Homo sapiens Q96MT8
Y2H Array
25416956
Intra DTNB O60941 CEP63 Homo sapiens Q96MT8
Y2H Prey Pooling
25416956
Intra DTNB O60941 CEP63 Homo sapiens Q96MT8
Validated Y2H
25416956
Intra DTNB O60941 ABI3 Homo sapiens Q9P2A4
Validated Y2H
25416956
Intra DTNB O60941 ABI3 Homo sapiens Q9P2A4
Y2H Array
25416956
Intra DTNB O60941 ABI3 Homo sapiens Q9P2A4
Y2H Prey Pooling
25416956
Intra DTNB O60941 MTUS2 Homo sapiens Q5JR59
Y2H Prey Pooling
25416956
Intra DTNB O60941 ABI2 Homo sapiens Q9NYB9
Y2H Array
25416956
Intra DTNB O60941 ABI2 Homo sapiens Q9NYB9
Y2H Array
29892012
Intra DTNB O60941 ABI2 Homo sapiens Q9NYB9
Y2H Prey Pooling
25416956
Intra DTNB O60941 ABI2 Homo sapiens Q9NYB9
Validated Y2H
25416956
Intra DTNB O60941 PPFIA1 Homo sapiens Q13136
Y2H Array
25416956
Intra DTNB O60941 PPFIA1 Homo sapiens Q13136
Anti Tag CoIP
33961781
Intra DTNB O60941 PPFIA1 Homo sapiens Q13136
Y2H Array
29892012
Intra DTNB O60941 CEP55 Homo sapiens Q53EZ4
Y2H Prey Pooling
25416956
Intra DTNB O60941 CEP55 Homo sapiens Q53EZ4
Validated Y2H
25416956
Intra DTNB O60941 CEP55 Homo sapiens Q53EZ4
Y2H Array
25416956
Intra DTNB O60941 SPZ1 Homo sapiens Q9BXG8
Y2H Array
31515488
Intra DTNB O60941 SPZ1 Homo sapiens Q9BXG8
Y2H Array
25416956
Intra DTNB O60941 SPZ1 Homo sapiens Q9BXG8
Y2H Prey Pooling
25416956
Intra DTNB O60941 SNTG2 Homo sapiens Q9NY99
MAPPIT
25416956
Intra DTNB O60941 NDEL1 Homo sapiens Q9GZM8
Y2H Prey Pooling
25416956
Intra DTNB O60941 NDEL1 Homo sapiens Q9GZM8
Validated Y2H
25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

Hermansky-Pudlak Syndrome

Hps

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Hermanski-Pudlak Syndrome

Hermansky Pudlak Syndrome

Platelet Storage Pool Deficiency

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus DTNB RGD RGD:1309579
Bos taurus DTNB VGNC VGNC:28232
Macaca mulatta DTNB VGNC VGNC:82136
Felis catus DTNB VGNC VGNC:61644
Mus musculus DTNB MGD MGI:1203728