SPTBN4 - spectrin beta, non-erythrocytic 4 Gene

中文名称：spectrin beta，非红细胞 4

种属: Homo sapiens

同用名: QV; CMND; SPNB4; NEDHND; SPTBN3

基因 ID: 57731 | 基因类型: protein coding

关于 SPTBN4

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:40,467,001-40,576,464 (from NCBI)

This gene has 12 transcripts (splice variants), 274 orthologues, 36 paralogues and is associated with 2 phenotypes. Biased expression in brain (RPKM 4.1), testis (RPKM 0.9) and 9 other tissues.

功能概要

Spectrin 是一种肌动蛋白交联和分子支架蛋白，可将质膜连接到肌动蛋白细胞骨架，并在确定细胞形状、跨膜蛋白排列和细胞器组织中发挥作用。它由两个反平行的α-和β-亚基二聚体组成。该基因是 β-血影蛋白基因家族的一员。编码的蛋白质定位于核基质、PML 核体和细胞质囊泡。神经元极化区域中的特定膜蛋白定位需要小鼠中高度相似的基因。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2008 年 7 月]

Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin Cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein localizes to the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

SPTBN4 基因产物(2)

mRNA	Protein	Name
NM_020971.3	NP_066022.2	spectrin beta chain, non-erythrocytic 4 isoform sigma1
NM_025213.3	NP_079489.2	spectrin beta chain, non-erythrocytic 4 isoform sigma5

基因本体论

分子功能
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables ankyrin binding	IDA IDA: 通过直接分析推断	11294830	GOA
enables phosphatase binding	IPI IPI: 通过物理相互作用推断	11086001	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	11086001	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in PML body	IDA IDA: 通过直接分析推断	11294830	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	11294830	GOA
located in membrane	IDA IDA: 通过直接分析推断	11086001	GOA
located in nuclear matrix	IDA IDA: 通过直接分析推断	11294830	GOA
part of spectrin	IDA IDA: 通过直接分析推断	11086001	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

SPTBN4 蛋白结构

Spectrin

PH_9

0
400
800
1200
1600
2000
2400
2564 a.a.

蛋白主名

其他名称

spectrin beta chain, non-erythrocytic 4

beta-IV spectrin

SPTBN4 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	SPTBN4	Q9H254	DISC1	Homo sapiens	Q9NRI5	Anti Tag CoIP	12812986
种属内	SPTBN4	Q9H254	DISC1	Homo sapiens	Q9NRI5	Y2H	12812986

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

Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness

NEDHND	Myopathy, Congenital, With Neuropathy And Deafness
Cmnd

Spinocerebellar Ataxia 5

Spinocerebellar Ataxia Type 5	SCA5
Spinocerebellar Ataxia-5	Ataxia, Spinocerebellar, Type 5

Developmental And Epileptic Encephalopathy 5

Epileptic Encephalopathy, Early Infantile, 5	DEE5
Eiee5	Developmental And Epileptic Encephalopathy, 5
Early Infantile Epileptic Encephalopathy 5	Encephalopathy, Epileptic, Early Infantile, Type 5

Spinocerebellar Ataxia, Autosomal Recessive 8

Arca1	Autosomal Recessive Cerebellar Ataxia Type 1
SCAR8	Autosomal Recessive Spinocerebellar Ataxia 8
Autosomal Recessive Ataxia, Beauce Type	Recessive Ataxia Of Beauce
Syne1-Related Autosomal Recessive Cerebellar Ataxia	Ataxia, Recessive, Of Beauce
Cerebellar Ataxia, Autosomal Recessive, Type 1	Spinocerebellar Ataxia Autosomal Recessive 8
Autosomal Recessive Ataxia Beauce Type	Spinocerebellar Ataxia, Autosomal Recessive, 8
Ataxia Recessive Of Beauce	Ataxia, Spinocerebellar, Autosomal Recessive, Type 8

Hypotonia

Myopathy

Muscular Diseases

Myopathies

Charcot-Marie-Tooth Disease And Deafness

Charcot-Marie-Tooth Disease Type 1e	CMT1E
Charcot-Marie-Tooth Disease Type 1	Hereditary Motor And Sensory Neuropathy Type 1
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e	Charcot-Marie-Tooth Disease, Type I
Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant	Charcot-Marie-Tooth Disease, Type 1e
Charcot-Marie-Tooth Disease Demyelinating Type 1e	Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease
Cmt1	Charcot-Marie-Tooth Neuropathy Type 1
Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness	Charcot-Marie-Tooth Disease-Deafness
Charcot-Marie-Tooth Type 1	Hmsn1
Hereditary Motor And Sensory Neuropathy 1	Cmt 1e
Charcot Marie Tooth Disease Type 1e	Charcot-Marie-Tooth Disease-Deafness Syndrome
Charcot-Marie-Tooth Disease-Hearing Loss Syndrome	Charcot-Marie-Tooth Disease 1e
Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant	Charcot-Marie-Tooth Neuropathy Type 1e
Charcot-Marie-Tooth Disease, Type Ie	Hereditary Motor And Sensory Neuropathy Type I

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome	Sudden Unexplained Nocturnal Death Syndrome
Bangungut	Brugada Type Idiopathic Ventricular Fibrillation
Pokkuri Death Syndrome	Sunds
Idiopathic Ventricular Fibrillation, Brugada Type	Sudden Unexplained Death
Dream Disease	Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome
Sudden Unexplained Death Syndrome	Suds
Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression	Early Infantile Epileptic Encephalopathy With Suppression Bursts
Eiee	Early Infantile Epileptic Encephalopathy With Suppression-Bursts
Ohtahara Syndrome	Encephalopathy, Epileptic, Early Infantile

West Syndrome

Infantile Spasms	Infantile Spasms Syndrome
Infantile Spasm	X-Linked Infantile Spasm Syndrome
X-Linked Infantile Spasms	Epileptic Encephalopathy, Early Infantile, 1
Is	Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
West'S Syndrome	Spasms, Infantile
Is -[Infantile Spasm]	Salaam Spasm
Salaam Tic

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-RS13734	SPTBN4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	SPTBN4	VGNC	VGNC:65661
Bos taurus	SPTBN4	VGNC	VGNC:35254
Mus musculus	SPTBN4	MGD	MGI:1890574
Canis familiaris	SPTBN4	VGNC	VGNC:46777
Rattus norvegicus	SPTBN4	RGD	RGD:1304682

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上海工商

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沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

SPTBN4 - spectrin beta, non-erythrocytic 4 Gene

关于 SPTBN4

功能概要

SPTBN4 基因产物(2)

SPTBN4 蛋白结构

SPTBN4 蛋白互作信息

关联疾病

直系同源

热门区域

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SPTBN4 - spectrin beta, non-erythrocytic 4 Gene

关于 SPTBN4

功能概要

SPTBN4 基因产物(2)

SPTBN4 蛋白结构

SPTBN4 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z