TUBB2B - tubulin beta 2B class IIb Gene

Also Known as CDCBM7; PMGYSA; bA506K6.1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 347733

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

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 Set	/	Unkown

Orthologs Information

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