TUBB3 - tubulin beta 3 class III Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10381

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

TUBB3 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80570	beta III Tubulin Antibody (YA586)	WB, IHC-F, IHC-P, ICC/IF, IP	Human, Mouse, Rat
HY-P80570A	beta III Tubulin Antibody (YA586)(PBS only)	WB, IHC-F, IHC-P, ICC/IF, IP	Human, Mouse, Rat
HY-P84546	beta III Tubulin Antibody (YA4243)	WB, ICC/IF, FC, ELISA	Human, Mouse, Rat
HY-P84546A	beta III Tubulin Antibody (YA4243)(PBS only)	WB, ICC/IF, FC, ELISA	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-158208	PMMB276	Inhibitor	97.26%	Unkown
HY-158208A	(1S)-PMMB276	Control	/	Unkown
HY-RS15254	TUBB3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19491	Tubb3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25985	Tubb3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	TUBB3	NCBI