TUBB2B - tubulin beta 2B class IIb Gene

Homo sapiens

Also known as CDCBM7; PMGYSA; bA506K6.1

Gene ID: 347733 | Gene type: protein coding

About 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.

Summary

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 Products(1)

mRNA	Protein	Name
NM_178012.5	NP_821080.1	tubulin beta-2B chain

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21078624	GOA
enables protein heterodimerization activity	IDA IDA: Inferred from direct assay	23001566	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in microtubule-based process	IMP IMP: Inferred from mutant phenotype	26732629	GOA
involved in neuron migration	IMP IMP: Inferred from mutant phenotype	19465910	GOA
involved in positive regulation of axon guidance	IMP IMP: Inferred from mutant phenotype	23001566	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in microtubule	IDA IDA: Inferred from direct assay	21525035	GOA
located in microtubule cytoskeleton	IDA IDA: Inferred from direct assay	23001566	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TUBB2B Protein Structure

Tubulin

Tubulin_C

0
100
200
300
400
445 a.a.

Protein Preferred Names

Protein Names

tubulin beta-2B chain

class II beta-tubulin isotype

TUBB2B Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	TUBB2B	Q9BVA1	CACNA1A	Homo sapiens	O00555	Pull Down	21078624
Intra	TUBB2B	Q9BVA1	CACNA1A	Homo sapiens	O00555	Y2H	21078624

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15253	TUBB2B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	TUBB2B	MGD	MGI:1920960
Rattus norvegicus	TUBB2B	RGD	RGD:1309427