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_3

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
种属内	DTNB	O60941	KRT40	Homo sapiens	Q6A162	Validated Y2H	25416956
种属内	DTNB	O60941	DMD	Homo sapiens	P11532	Anti Tag CoIP	33961781
种属内	DTNB	O60941	DMD	Homo sapiens	P11532	Y2H Array	25416956
种属内	DTNB	O60941	NUP62	Homo sapiens	P37198	Y2H Pooling	16189514
种属内	DTNB	O60941	NUP62	Homo sapiens	P37198	Y2H Array	31515488
种属内	DTNB	O60941	NUP62	Homo sapiens	P37198	Y2H Prey Pooling	25416956
种属内	DTNB	O60941	VCP	Homo sapiens	P55072	Y2H Prey Pooling	25416956
种属内	DTNB	O60941	VCP	Homo sapiens	P55072	Y2H Array	25416956
种属内	DTNB	O60941	TRAF2	Homo sapiens	Q12933	Y2H Prey Pooling	25416956
种属内	DTNB	O60941	TRAF2	Homo sapiens	Q12933	Validated Y2H	25416956
种属内	DTNB	O60941	TRAF2	Homo sapiens	Q12933	Y2H Pooling	16189514
种属内	DTNB	O60941	TXLNA	Homo sapiens	P40222	Y2H Array	31515488
种属内	DTNB	O60941	TXLNA	Homo sapiens	P40222	Y2H Array	25416956
种属内	DTNB	O60941	ZBTB9	Homo sapiens	Q96C00	Y2H Array	31515488
种属内	DTNB	O60941	ZBTB9	Homo sapiens	Q96C00	Y2H Prey Pooling	25416956
种属内	DTNB	O60941	ZBTB9	Homo sapiens	Q96C00	Y2H Array	25416956
种属内	DTNB	O60941	GGA1	Homo sapiens	Q9UJY5	Validated Y2H	25416956
种属内	DTNB	O60941	GGA1	Homo sapiens	Q9UJY5	MAPPIT	25416956
种属内	DTNB	O60941	GGA1	Homo sapiens	Q9UJY5	Y2H Array	25416956
种属内	DTNB	O60941	GGA1	Homo sapiens	Q9UJY5	Y2H Prey Pooling	25416956
种属内	DTNB	O60941	DTNBP1	Homo sapiens	Q96EV8	Y2H Prey Pooling	25416956
种属内	DTNB	O60941	CTNNAL1	Homo sapiens	Q9UBT7	Far-WB	21115837
种属内	DTNB	O60941	USHBP1	Homo sapiens	Q8N6Y0	Validated Y2H	25416956
种属内	DTNB	O60941	HMG20A	Homo sapiens	Q9NP66	Y2H Pooling	16189514
种属内	DTNB	O60941	HMG20A	Homo sapiens	Q9NP66	Y2H Array	25416956
种属内	DTNB	O60941	CEP63	Homo sapiens	Q96MT8	Y2H Array	25416956
种属内	DTNB	O60941	CEP63	Homo sapiens	Q96MT8	Y2H Prey Pooling	25416956
种属内	DTNB	O60941	CEP63	Homo sapiens	Q96MT8	Validated Y2H	25416956
种属内	DTNB	O60941	ABI3	Homo sapiens	Q9P2A4	Validated Y2H	25416956
种属内	DTNB	O60941	ABI3	Homo sapiens	Q9P2A4	Y2H Array	25416956
种属内	DTNB	O60941	ABI3	Homo sapiens	Q9P2A4	Y2H Prey Pooling	25416956
种属内	DTNB	O60941	MTUS2	Homo sapiens	Q5JR59	Y2H Prey Pooling	25416956
种属内	DTNB	O60941	ABI2	Homo sapiens	Q9NYB9	Y2H Array	25416956
种属内	DTNB	O60941	ABI2	Homo sapiens	Q9NYB9	Y2H Array	29892012
种属内	DTNB	O60941	ABI2	Homo sapiens	Q9NYB9	Y2H Prey Pooling	25416956
种属内	DTNB	O60941	ABI2	Homo sapiens	Q9NYB9	Validated Y2H	25416956
种属内	DTNB	O60941	PPFIA1	Homo sapiens	Q13136	Y2H Array	25416956
种属内	DTNB	O60941	PPFIA1	Homo sapiens	Q13136	Anti Tag CoIP	33961781
种属内	DTNB	O60941	PPFIA1	Homo sapiens	Q13136	Y2H Array	29892012
种属内	DTNB	O60941	CEP55	Homo sapiens	Q53EZ4	Y2H Prey Pooling	25416956
种属内	DTNB	O60941	CEP55	Homo sapiens	Q53EZ4	Validated Y2H	25416956
种属内	DTNB	O60941	CEP55	Homo sapiens	Q53EZ4	Y2H Array	25416956
种属内	DTNB	O60941	SPZ1	Homo sapiens	Q9BXG8	Y2H Array	31515488
种属内	DTNB	O60941	SPZ1	Homo sapiens	Q9BXG8	Y2H Array	25416956
种属内	DTNB	O60941	SPZ1	Homo sapiens	Q9BXG8	Y2H Prey Pooling	25416956
种属内	DTNB	O60941	SNTG2	Homo sapiens	Q9NY99	MAPPIT	25416956
种属内	DTNB	O60941	NDEL1	Homo sapiens	Q9GZM8	Y2H Prey Pooling	25416956
种属内	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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-15915	DTNB		98.67%	否
HY-W127380	Arachidonoyl thio-PC		≥98.0%	否
HY-125744	Palmitoyl thio-PC		/	否
HY-RS04036	DTNB Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-W713925	Diheptanoyl Thio-PC		/	否

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

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