TUBB3 - tubulin beta 3 class III Gene

Homo sapiens

Also known as CDCBM; FEOM3; TUBB4; CDCBM1; CFEOM3; beta-4; CFEOM3A

Gene ID: 10381 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables GTP binding	IDA IDA: Inferred from direct assay	34996871	GOA
enables netrin receptor binding	IPI IPI: Inferred from physical interaction	28483977	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21044950	GOA
enables structural constituent of cytoskeleton	IDA IDA: Inferred from direct assay	34996871	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in axon guidance	IMP IMP: Inferred from mutant phenotype	20074521	GOA
involved in dorsal root ganglion development	IDA IDA: Inferred from direct assay	28483977	GOA
involved in microtubule cytoskeleton organization	IDA IDA: Inferred from direct assay	34996871	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in microtubule	IDA IDA: Inferred from direct assay	21525035	GOA
is active in microtubule cytoskeleton	IDA IDA: Inferred from direct assay	34996871	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

Protein Preferred Names

Protein Names

tubulin beta-3 chain

class III beta-tubulin

TUBB3 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	TUBB3	Q13509	TUBA1B	Homo sapiens	P68363	Affinity Chrom	24021646
Intra	TUBB3	Q13509	TERF1	Homo sapiens	P54274	Pull Down	21044950
Intra	TUBB3	Q13509	TERF1	Homo sapiens	P54274	BiFC	21044950

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-158208	PMMB276	Inhibitor	/	Unkown
HY-RS15254	TUBB3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	TUBB3	RGD	RGD:628595
Bos taurus	TUBB3	VGNC	VGNC:107005
Mus musculus	TUBB3	MGD	MGI:107813

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