TUBB3 - tubulin beta 3 class III Gene

中文名称：微管蛋白 3 III 类

种属: Homo sapiens

同用名: CDCBM; FEOM3; TUBB4; CDCBM1; CFEOM3; beta-4; CFEOM3A

基因 ID: 10381 | 基因类型: protein coding

关于 TUBB3

Cytogenetic location: 16q24.3 Genomic coordinates (GRCh38): 16:89,921,925-89,936,097 (from NCBI)

This gene has 16 transcripts (splice variants), 148 orthologues, 23 paralogues and is associated with 7 phenotypes. Broad expression in brain (RPKM 82.3), testis (RPKM 29.3) and 18 other tissues.

功能概要

该基因编码 β 微管蛋白家族的 III 类成员。 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。这种蛋白质主要在神经元中表达，可能参与神经发生和轴突引导和维持。该基因的突变是 3 型眼外肌先天性纤维化的原因。交替剪接导致多种转录物变异。在 6 号染色体上发现了该基因的假基因。[RefSeq 提供，2010 年 10 月]

This gene encodes a class III member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is primarily expressed in neurons and may be involved in neurogenesis and axon guidance and maintenance. Mutations in this gene are the cause of congenital fibrosis of the extraocular muscles type 3. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Oct 2010]

TUBB3 基因产物(2)

mRNA	Protein	Name
NM_001197181.2	NP_001184110.1	tubulin beta-3 chain isoform 2
NM_006086.4	NP_006077.2	tubulin beta-3 chain isoform 1

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 GTP binding	IDA IDA: 通过直接分析推断	34996871	GOA
enables netrin receptor binding	IPI IPI: 通过物理相互作用推断	28483977	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	21044950	GOA
enables structural constituent of cytoskeleton	IDA IDA: 通过直接分析推断	34996871	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in axon guidance	IMP IMP: 通过突变表型推断	20074521	GOA
involved in dorsal root ganglion development	IDA IDA: 通过直接分析推断	28483977	GOA
involved in microtubule cytoskeleton organization	IDA IDA: 通过直接分析推断	34996871	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in microtubule	IDA IDA: 通过直接分析推断	21525035	GOA
is active in microtubule cytoskeleton	IDA IDA: 通过直接分析推断	34996871	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

蛋白主名

其他名称

tubulin beta-3 chain

class III beta-tubulin

TUBB3 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	TUBB3	Q13509	TUBA1B	Homo sapiens	P68363	Affinity Chrom	24021646
种属内	TUBB3	Q13509	TERF1	Homo sapiens	P54274	Pull Down	21044950
种属内	TUBB3	Q13509	TERF1	Homo sapiens	P54274	BiFC	21044950

种属间: 跨种属相互作用 种属内: 同种属相互作用

TUBB3 抗体

目录号	产品名	应用	反应物种
HY-P80570	beta III Tubulin Antibody	WB, IHC-F, IHC-P, ICC/IF, IP	Human, Mouse, Rat

关联疾病

疾病名称

别名

Cortical Dysplasia, Complex, With Other Brain Malformations 1

Complex Cortical Dysplasia With Other Brain Malformations 1	CDCBM1
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation

Fibrosis Of Extraocular Muscles, Congenital, 3a, With Or Without Extraocular Involvement

CFEOM3A	Fibrosis Of Extraocular Muscles, Congenital, 3a
Congenital Fibrosis Of The Extraocular Muscles 3a	Feom3 Locus
Congenital Fibrosis Of Extraocular Muscles 3a With Or Without Extraocular Involvement	Feom3
Tubb3 Syndrome	Fibrosis Of Extraocular Muscles, Congenital, Type 3a

Tubulinopathy-Associated Dysgyria

Brain Stem Asymmetry-Superior Cerebellar And Basal Ganglia Dysplasia Syndrome

Congenital Fibrosis Of The Extraocular Muscles

Congenital Fibrosis Of Extraocular Muscles	Cfeom
Feom	Congenital External Ophthalmoplegia
Congenital Fibrosis Syndrome	General Fibrosis Syndrome

Tubulin, Beta

Lissencephaly

Pachygyria	Broad Gyri Of Cerebrum
Large Gyri Of Cerebrum	Macrogyria

Spastic Ataxia

Spax	Ataxia, Spastic

Polyneuropathy

Polyneuropathies

Strabismus

Strabismus, Susceptibility To	Strabismus, Susceptibility To, 1
Strabismus 1

Odontoma

Refractive Error

Refractive Errors

Amblyopia

Lazy Eye

Polymicrogyria

Pmg

Ptosis

Blepharoptosis	Drooping Eyelid
Droopy Eyelid	Ptosis Of Eyelid
Paralysis Of Levator Palpebrae Superioris

Pick Disease Of Brain

Pick Disease	Pick'S Disease
Pick Disease Of The Brain	Lobar Atrophy Of Brain
Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions	Behavioral Variant Of Frontotemporal Dementia
Dementia In Pick'S Disease	Lobar Atrophy Of The Brain
Bvftd	Bv-Ftd
PIDB	Picks Disease

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-158208	PMMB276	Inhibitor	/	否
HY-RS15254	TUBB3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	TUBB3	RGD	RGD:628595
Bos taurus	TUBB3	VGNC	VGNC:107005
Mus musculus	TUBB3	MGD	MGI:107813

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

TUBB3 - tubulin beta 3 class III Gene

关于 TUBB3

功能概要

TUBB3 基因产物(2)

TUBB3 蛋白互作信息

TUBB3 抗体

关联疾病

直系同源

热门区域

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TUBB3 - tubulin beta 3 class III Gene

关于 TUBB3

功能概要

TUBB3 基因产物(2)

TUBB3 蛋白互作信息

TUBB3 抗体

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