1. Gene
  2. TUBB2B - tubulin beta 2B class IIb Gene

TUBB2B - tubulin beta 2B class IIb Gene

中文名称:微管蛋白 2B IIb 类

种属: Homo sapiens

同用名: CDCBM7; PMGYSA; bA506K6.1

基因 ID: 347733 | 基因类型: protein coding

关于 TUBB2B

Cytogenetic location: 6p25.2 Genomic coordinates (GRCh38): 6:3,224,277-3,227,653 (from NCBI)

This gene has 5 transcripts (splice variants), 188 orthologues, 23 paralogues and is associated with 7 phenotypes. Biased expression in brain (RPKM 233.4), bone marrow (RPKM 22.7) and 11 other tissues.

功能概要

该基因编码的蛋白质是微管蛋白的 β 亚型,它与 GTP 结合,是微管的主要成分。该基因与 TUBB2A 和 TUBB2C 高度相似。该基因的缺陷是不对称多小脑回的原因。[RefSeq 提供,2010 年 3 月]

The protein encoded by this gene is a beta isoform of tubulin, which binds GTP and is a major component of microtubules. This gene is highly similar to TUBB2A and TUBB2C. Defects in this gene are a cause of asymmetric polymicrogyria. [provided by RefSeq, Mar 2010]

TUBB2B 基因产物(1)

mRNA Protein Name
NM_178012.5 NP_821080.1 tubulin beta-2B chain
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
21078624 GOA
enables protein heterodimerization activity IDA
IDA: 通过直接分析推断
23001566 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in microtubule-based process IMP
IMP: 通过突变表型推断
26732629 GOA
involved in neuron migration IMP
IMP: 通过突变表型推断
19465910 GOA
involved in positive regulation of axon guidance IMP
IMP: 通过突变表型推断
23001566 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
located in microtubule cytoskeleton IDA
IDA: 通过直接分析推断
23001566 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

TUBB2B 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
  • 445 a.a.
蛋白主名 其他名称

tubulin beta-2B chain

class II beta-tubulin isotype

TUBB2B 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
TUBB2B Q9BVA1 CACNA1A Homo sapiens O00555
Pull Down
21078624
种属内
TUBB2B Q9BVA1 CACNA1A Homo sapiens O00555
Y2H
21078624
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
Cortical Dysplasia, Complex, With Other Brain Malformations 7

Complex Cortical Dysplasia With Other Brain Malformations 7

CDCBM7

Polymicrogyria, Symmetric Or Asymmetric

Pmgysa

Polymicrogyria Due To Tubb2b Mutation

Dysplasia, Cortical, Complex, With Other Brain Malformations, Type 7

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

Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1

Dysequilibrium Syndrome

CAMRQ1

Des

Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 1

Cerebellar Hypoplasia, Vldlr-Associated

Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion 1

Cerebellar Ataxia, Mental Retardation And Dysequlibrium Syndrome

Uner Tan Syndrome

Vldlr Cerebellar Hypoplasia

Vldlrch

Vldlr-Associated Cerebellar Hypoplasia

Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 1

Cerebellar Ataxia, Congenital, And Mental Retardation, Autosomal Recessive

Camrq

Cerebellar Ataxia, Mental Retardation, Dysequilibrium Syndrome 1

Cerebellar Disorder, Nonprogressive, With Intellectual Disability

Cerebellar Hypoplasia, Vldlr Associated

Autosomal Recessive Cerebellar Ataxia With Mental Retardation

Autosomal Recessive Cerebellar Hypoplasia With Cerebral Gyral Simplification

Cerebellar Disorder, Nonprogressive, With Mental Retardation

Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion

Chmrq1

Des-Vldlr

Dysequilibrium Syndrome-Vldlr

Vldlr-Ch

Camrq Syndrome

Cerebellar Ataxia-Intellectual Disability-Dysequilibrium Syndrome Syndrome

Non-Progressive Cerebellar Ataxia-Intellectual Disability Syndrome

Uts

Cerebellar Hypoplasia Vldlr-Associated

Dialysis Disequilibrium Syndrome

Polymicrogyria

Pmg

Tubulinopathy

Tubulinopathies

Lissencephaly

Pachygyria

Broad Gyri Of Cerebrum

Large Gyri Of Cerebrum

Macrogyria

Tubulin, Beta
Fourth Cranial Nerve Palsy

Fourth Nerve Palsy

Fourth Cranial Nerve Paresis

Fourth Or Trochlear Nerve Palsy

4th Nerve Palsy

Fourth Cranial Nerve Paralysis

Superior Oblique Palsy

Trochlear Nerve Palsy

Trochlear Nerve Paralysis

Trochlear Nerve Weakness

Isolated Trochlear Nerve Palsy

Atrophy Of Fourth Cranial Nerve

Atrophy Of Trochlear Nerve

Paralytic Squint

Paralytic Strabismus

Incomitant Dissociation

Microlissencephaly
Tukel Syndrome

Cfeom-U

Congenital Fibrosis Of The Extraocular Muscles 4

Fibrosis Of Extraocular Muscles, Congenital, With Ulnar Hand Anomalies

Fibrosis Of Extraocular Muscles, Congenital, 4

Cfeom4

Congenital Extraocular Muscle Fibrosis With Ulnar Hand Anomalies

Congenital Fibrosis Of The Extraocular Muscles

Microphthalmia, Isolated 5

Isolated Microphthalmia 5

MCOP5

Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen

Microphthalmia-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome

Posterior Microphthalmia With Retinitis Pigmentosa, Foveoschisis And Optic Disc Drusen

Nanophthalmos-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome

Microphthalmia, Isolated, 5

Microphthalmia Mfrp-Related

Posterior Microphthalmia With Retinitis Pigmentosa, Foveoschisis And Optic Disk Drusen

Microphthalmia, Isolated, Type 5

Band Heterotopia

Subcortical Band Heterotopia

Double Cortex Syndrome

Subcortical Laminar Heterotopia

Double Cortex

Band Heterotopia Of Brain

BH

Heco

Heterotopic Cortex

Familial Band Heterotopia

Dc

Dc Syndrome

Heterotopia, Subcortical Band

Sbh

Sclh

Bhy

Hypertropia
Bilateral Generalized Polymicrogyria

Bilateral Generalised Polymicrogyria

Complex Cortical Dysplasia With Other Brain Malformations

Cdcbm

Dysplasia, Cortical, Complex, With Other Brain Malformations

Dysplasia ,Cortical, Complex, With Other Brain Malformations

Adhesive Otitis Media

Adhesive Middle Ear Disease

Chronic Adhesive Otitis Media

Adhesive Otitis

Fibrotic Adhesive Otitis Media

Adhesive Disorder Of Middle Ear

Lissencephaly 2

Norman-Roberts Syndrome

Lissencephaly Syndrome, Norman-Roberts Type

LIS2

Lissencephaly With Cerebellar Hypoplasia

Lch

Lissencephaly Syndrome Norman-Roberts Type

Norman Roberts Lissencephaly Syndrome

Lissencephaly 3

Lis3

Microlissencephaly Type A

Norman-Roberts Lissencephaly Syndrome

Lissencephaly, Type 2

Cobblestone Lissencephaly

Axonal Neuropathy
Polymicrogyria, Bilateral Perisylvian, X-Linked

Bilateral Perisylvian Polymicrogyria

Polymicrogyria, Bilateral Perisylvian

Pmgx

Perisylvian Syndrome, Congenital Bilateral

Cbps

Congenital Bilateral Perisylvian Syndrome

Perisylvian Syndrome

BPPX

Bpp

Partial Third-Nerve Palsy

Partial Third Nerve Palsy

Third Nerve Palsy With Pupil Sparing

Third Or Oculomotor Nerve Palsy, Partial

Oculomotor Nerve Diseases

Oculomotor Nerve Paralysis

Goldberg-Shprintzen Syndrome

Goldberg-Shprintzen Megacolon Syndrome

GOSHS

Megacolon-Microcephaly Syndrome

Lissencephaly, X-Linked, 2

X-Linked Lissencephaly With Abnormal Genitalia

Hydranencephaly With Abnormal Genitalia

Xlag

Xlisg

X-Linked Lissencephaly With Ambiguous Genitalia

LISX2

Lissencephaly, X-Linked 2

X-Linked Lissencephaly 2

X-Linked Lissencephaly-Corpus Callosum Agenesis-Genital Anomalies Syndrome

Xlag Syndrome

Lissencephaly, X-Linked, With Ambiguous Genitalia

Xlis2

X-Linked Lissencephaly - Agenesis Of The Corpus Callosum - Genital Anomalies

X-Linked Lissencephaly-Agenesis Of The Corpus Callosum-Genital Anomalies Syndrome

Xlag Syndrome

Lissencephaly X-Linked With Ambiguous Genitalia

Lissencephaly, X-Linked, Type 2

Chromosome Xq26.3 Duplication Syndrome

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

Miller-Dieker Lissencephaly Syndrome

Miller-Dieker Syndrome

Mds

MDLS

Miller Dieker Syndrome

Classical Lissencephaly Syndrome

Lissencephaly Due To 17p13.3 Deletion

Monosomy 17p13.3

Telomeric Deletion 17p

Classical Lissencephaly

Ocular Motility Disease

Ocular Motility Disorders

Abnormality Of Eye Movement

Disorder Of Eye Movements

Eye Movement Disorder

Eye Movement Disorders

Polymicrogyria, Bilateral Frontoparietal

Bilateral Frontoparietal Polymicrogyria

BFPP

Cerebellar Ataxia With Neuronal Migration Defect

Periventricular Nodular Heterotopia

Periventricular Heterotopia

Pvnh

Familial Nodular Heterotopia

Heterotopia, Periventricular

Periventricular Heterotopia, X-Linked

Baraitser-Winter Syndrome

Fryns-Aftimos Syndrome

Brws

Cerebro-Frontofacial Syndrome, Type 3

Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation

Iris Coloboma With Ptosis Hypertelorism And Intellectual Disability

Trigonocephaly Ptosis Coloboma

Trigonocephaly Ptosis Intellectual Disability

Cerebrofrontofacial Syndrome Type 3

Aicardi Syndrome

AIC

Corpus Callosum, Agenesis Of, With Chorioretinal Abnormality

Agenesis Of Corpus Callosum With Chorioretinal Abnormality

Aicardi'S Syndrome

Agenesis Of Corpus Callosum With Infantile Spasms And Ocular Abnormalities

Callosal Agenesis And Ocular Abnormalities

Chorioretinal Anomalies With Acc

Duane Retraction Syndrome

Stilling-Turk-Duane Syndrome

Duane'S Syndrome

Duane Syndrome

Isolated Duane Retraction Syndrome

Co-Contractive Retraction Syndrome

Duane Anomaly, Isolated

Ocular Retraction Syndrome

Drs

Durs

Esotropia

Convergence In Manifest Squint

Crossed Eyes

Internal Strabismus

Convergent Concomitant Strabismus

Convergent Squint

Convergent Strabismus

Cross-Eye

Congenital Ptosis

Congenital Blepharoptosis

Congenital Eyelid Ptosis

Walker-Warburg Syndrome

Hard Syndrome

Walker-Warburg Congenital Muscular Dystrophy

Cerebroocular Dysplasia-Muscular Dystrophy Syndrome

Cod-Md Syndrome

Chemke Syndrome

Hydrocephalus, Agyria And Retinal Dysplasia

Cerebroocular Dysgenesis

Cerebroocular Dysplasia Muscular Dystrophy Syndrome

Hard +/- E Syndrome

Pagon Syndrome

Warburg Syndrome

Hydrocephalus, Agyria, And Retinal Dysplasia

Mddga

Muscular Dystrophy-Dystroglycanopathy , Type A

Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A

Hydrocephalus-Agyria-Retinal Dysplasia Syndrome

Wws

Dystrophy, Muscular, Dystroglycanopathy, Type A

Pontocerebellar Hypoplasia

Pch

Congenital Pontocerebellar Hypoplasia

Opch

Hypoplasia, Pontocerebellar

Pontoneocerebellar Hypoplasia

Nonsyndromic Pontocerebellar Hypoplasia

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Strabismus

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly

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
Mus musculus TUBB2B MGD MGI:1920960
Rattus norvegicus TUBB2B RGD RGD:1309427