2. Gene
  3. TUBB4A - tubulin beta 4A class IVa Gene

TUBB4A - tubulin beta 4A class IVa Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：微管蛋白β4A IVa 类

种属: Homo sapiens

同用名: DYT4; TUBB4; beta-5

基因 ID: 10382 | 基因类型: protein coding

关于 TUBB4A

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:6,494,319-6,502,848 (from NCBI)

This gene has 13 transcripts (splice variants), 87 orthologues, 23 paralogues and is associated with 5 phenotypes. Biased expression in brain (RPKM 224.5), adrenal (RPKM 54.5) and 1 other tissue.

功能概要

该基因编码 β 微管蛋白家族的成员。 β 微管蛋白是异二聚化并组装形成微管的两个核心蛋白家族 (α 和 β 微管蛋白) 之一。该基因的突变导致髓鞘形成性脑白质营养不良 6 和常染色体显性扭转肌张力障碍 4。交替剪接导致编码不同异构体的多个转录变体。在 X 染色体上发现了该基因的假基因。[RefSeq 提供，2014 年 1 月]

This gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4. Alternate splicing results in multiple transcript variants encoding different isoforms. A pseudogene of this gene is found on chromosome X. [provided by RefSeq, Jan 2014]

TUBB4A 基因产物(6)

mRNA Protein Name
NM_001289123.2 NP_001276052.1 tubulin beta-4A chain isoform 1
NM_001289127.2 NP_001276056.1 tubulin beta-4A chain isoform 2
NM_001289129.2 NP_001276058.1 tubulin beta-4A chain isoform 3
NM_001289130.2 NP_001276059.1 tubulin beta-4A chain isoform 4
NM_001289131.2 NP_001276060.1 tubulin beta-4A chain isoform 4
NM_006087.4 NP_006078.2 tubulin beta-4A chain isoform 3
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 calcium ion binding IMP
IMP: 通过突变表型推断
10211825 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
20195357 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of microtubule polymerization IMP
IMP: 通过突变表型推断
10211825 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in axoneme IDA
IDA: 通过直接分析推断
12475942 GOA
located in microtubule IDA
IDA: 通过直接分析推断
21525035 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

TUBB4A 蛋白结构

Tubulin

Tubulin: Tubulin/FtsZ family, GTPase domain (3 - 222)

Tubulin_C

Tubulin_C: Tubulin C-terminal domain (261 - 382)

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

tubulin beta-4A chain

dystonia 4, torsion (autosomal dominant)

重组 TUBB4A 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71075 TUBB4A Protein, Human (His) P04350 (M1-A444) ≥95%

关联疾病

疾病名称 别名
Leukodystrophy, Hypomyelinating, 6

Habc

Hypomyelinating Leukodystrophy 6

HLD6

H-Abc

Hypomyelination With Atrophy Of Basal Ganglia And Cerebellum

Leukodystrophy, Hypomyelinating, With Atrophy Of The Basal Ganglia And Cerebellum

Hypomyelinating Leukodystrophy With Atrophy Of The Basal Ganglia And Cerebellum

HLD

Leukodystrophy, Hypomyelinating, Type 6
Dystonia 4, Torsion, Autosomal Dominant

DYT4

Dystonia Musculorum Deformans 4

Hereditary Whispering Dysphonia

Whispering Dysphonia, Hereditary

Dyt-Tubb4a

Autosomal Dominant Torsion Dystonia-4

Whispering Dysphonia

Primary Dystonia, Dyt4 Type

Dystonia-4

Dystonia, Type 4, Torsion, Autosomal Dominant
Torsion Dystonia 4
Cerebral Palsy

Infantile Cerebral Palsy

Mixed Cerebral Palsy

Palsy Cerebral

Palsy, Cerebral

Cerebral Palsy, Mixed
Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Tubulin, Beta
Leukodystrophy

Leukodystrophies
Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia
Hypomyelinating Leukodystrophy

Hld

Leukodystrophy, Hypomyelinating
Tubulinopathy

Tubulinopathies
Spasmodic Dystonia

Laryngeal Dystonia
Dystonia 25

DYT25

Dystonia-25

Dystonia, Type 25
Torsion Dystonia 2

Dystonia 2, Torsion, Autosomal Recessive
Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia
Segmental Dystonia
Leukodystrophy, Hypomyelinating, 4

Mitochondrial Hsp60 Chaperonopathy

Hypomyelinating Leukodystrophy 4

HLD4

Mitchap60 Disease

Pelizaeus-Merzbacher-Like Disease Due To Hspd1 Mutation

Mitchap-60 Disease

Leukodystrophy, Hypomyelinating, Type 4
Fleck Retina, Familial Benign

FRFB

Familial Benign Flecked Retina

Familial Benign Fleck Retina
Larynx Squamous Papilloma

Laryngeal Squamous Cell Papilloma
Focal Dystonia

Dystonia, Focal, Task-Specific
Dystonia 12

DYT12

Rdp

Generalized Dystonia

Dystonia-12

Rapid-Onset Dystonia-Parkinsonism

Familial Dystonia

Dystonia Musculorum Deformans

Dystonic Disorders

Idiopathic Familial Dystonia

Dystonia-Parkinsonism, Rapid-Onset

Fragments Of Torsion Dystonia

Dyt-Atp1a3

Rapid-Onset Dystonia Parkinsonism

Rodp

Dystonia, Type 12

Dystonia 3, Torsion, X-Linked

Idiopathic Non-Familial Dystonia

Symptomatic Torsion Dystonia

Dystonia Disorders
Night Blindness, Congenital Stationary, Type 1h

Congenital Stationary Night Blindness 1h

CSNB1H

Congenital Stationary Night Blindness Type 1h

Night Blindness, Congenital Stationary, 1h
Congenital Fibrosis Of The Extraocular Muscles

Congenital Fibrosis Of Extraocular Muscles

Cfeom

Feom

Congenital External Ophthalmoplegia

Congenital Fibrosis Syndrome

General Fibrosis Syndrome
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2a

MLC2A

Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, 2a

Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, Type 2a
Pelizaeus-Merzbacher Disease

PMD

HLD1

Pelizaeus-Merzbacher Brain Sclerosis

Leukodystrophy, Hypomyelinating, 1

Diffuse Familial Brain Sclerosis

Pelizaeus Merzbacher Brain Sclerosis

Sudanophilic Leukodystrophy, Paelizeus-Merzbacher Type

Cockayne-Pelizaeus-Merzbacher Disease

Hypomyelinating Leukodystrophy 1

Leukodystrophy, Sudanophilic

Pelizaeus Merzbacher Disease

Hypomyelinating Leukodystrophy, 1

Sudanophilic Leukodystrophy

Pelizaeus-Merzbacher Disease, Connatal Form

Connatal Pmd

Pelizaeus-Merzbacher Disease Type Ii

Severe Pmd

Null Syndrome

Plp1 Null Syndrome

Pelizaeus-Merzbacher Disease, Null Syndrome

Brain Sclerosis Diffuse Familial

Sudanophilic Leukodystrophy Paelizeus-Merzbacher Type

Leukodystrophy Hypomyelinating 1

Diffuse Cerebral Sclerosis Of Schilder
Leukodystrophy, Hypomyelinating, 5

Hypomyelination And Congenital Cataract

HLD5

Hypomyelination-Congenital Cataract Syndrome

Hypomyelinating Leukodystrophy 5

Hcc

Hypomyelination And Congenital Cataract: Hcc

Hypomyelination - Congenital Cataract

Hypomyelination With Congenital Cataract
Alternating Hemiplegia Of Childhood

Alternating Hemiplegia

Ahc

Alternating Hemiplegia Syndrome

Hemiplegia, Alternating, Of Childhood

Hemiplegia, Crossed
Mantle Cell Lymphoma

Lymphoma, Mantle Cell

Lcm

Mcl

Mantle Zone Lymphoma

Lymphoma Mantle-Cell

Lymphoma, Mantle-Cell

Malignant Lymphoma, Lymphocytic, Intermediate Differentiation, Diffuse

Malignant Lymphoma - Lymphocytic, Intermediate Differentiation

Diffuse Small Cleaved-Cell Lymphoma

Diffuse Small Cleaved Cell Malignant Lymphoma

Small Cleaved Cell Non-Hodgkin Lymphoma

Diffuse Non-Hodgkin Small Cleaved Cell Lymphoma

Malignant Lymphomatous Polyposis

Malignant Small Cell, Noncleaved, Diffuse Lymphoma

Malignant Undifferentiated Cell, Non-Burkitt Lymphoma

Cleaved Cell Lymphoma

Small Cell Mantle Cell Lymphoma

Small Cleaved Cell Malignant Lymphoma
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS15255 TUBB4A 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 TUBB4A VGNC VGNC:66700
Mus musculus TUBB4A MGD MGI:107848
Bos taurus TUBB4A VGNC VGNC:36507
Rattus norvegicus TUBB4A RGD RGD:619730
Canis familiaris TUBB4A VGNC VGNC:47989
Others TUBB4A NCBI
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