TUBB2A - tubulin beta 2A class IIa Gene

Homo sapiens

Also known as TUBB; TUBB2; CDCBM5

Gene ID: 7280 | Gene type: protein coding

About TUBB2A

Cytogenetic location: 6p25.2 Genomic coordinates (GRCh38): 6:3,153,666-3,157,544 (from NCBI)

This gene has 6 transcripts (splice variants), 86 orthologues, 23 paralogues and is associated with 2 phenotypes. Broad expression in brain (RPKM 301.1), bone marrow (RPKM 37.9) and 16 other tissues.

Summary

Microtubules, key participants in processes such as mitosis and intracellular transport, are composed of heterodimers of alpha- and beta-tubulins. The protein encoded by this gene is a beta-tubulin. Defects in this gene are associated with complex cortical dysplasia with other brain malformations-5. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2015]

TUBB2A Products(2)

mRNA	Protein	Name
NM_001069.3	NP_001060.1	tubulin beta-2A chain isoform 1
NM_001310315.2	NP_001297244.1	tubulin beta-2A chain isoform 2

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21044950	GOA

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

TUBB2A Protein Structure

Tubulin

Tubulin_C

0
100
200
300
400
445 a.a.

Protein Preferred Names

Protein Names

tubulin beta-2A chain

class IIa beta-tubulin

Related Diseases

Diseases

Alias

Cortical Dysplasia, Complex, With Other Brain Malformations 5

CDCBM5	Complex Cortical Dysplasia With Other Brain Malformations 5
Dysplasia ,Cortical, Complex, With Other Brain Malformations, Type 5

Tubulin, Beta

Complex Cortical Dysplasia With Other Brain Malformations

Cdcbm	Dysplasia, Cortical, Complex, With Other Brain Malformations
Dysplasia ,Cortical, Complex, With Other Brain Malformations

Multiple Benign Circumferential Skin Creases On Limbs

Ccsf	Circumferential Skin Creases, Kunze Type
Congenital Circumferential Skin Folds	Kunze-Riehm Syndrome
Kunze Riehm Syndrome	Michelin Tire Baby Syndrome

Charcot-Marie-Tooth Disease, Axonal, Type 2k

Charcot-Marie-Tooth Disease Axonal Type 2k	CMT2K
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Arcmt2k
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2k	Autosomal Recessive Axonal Cmt4c4
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2k	Charcot-Marie-Tooth Neuropathy, Axonal, Type 2k
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2k	Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Disease Type 2k
Charcot-Marie-Tooth Neuropathy Axonal Type 2k	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2k
Charcot-Marie-Tooth Disease 2k	Charcot-Marie-Tooth Disease Neuronal Type 2k
Charcot-Marie-Tooth Neuropathy Type 2k	Charcot-Marie-Tooth Disease, Type 2k

Tubulinopathy

Tubulinopathies

Skin Creases, Congenital Symmetric Circumferential, 1

Michelin Tire Baby Syndrome	CSCSC1
Skin Creases, Multiple Benign Ring-Shaped, Of Limbs	Circumferential Skin Creases, Kunze Type
Congenital Symmetric Circumferential Skin Creases 1	Circumferential Skin Creases Kunze Type
Symmetric Circumferential Skin Creases, Congenital, 1	Csc-Kt
Multiple Benign Ring-Shaped Skin Creases Of Limbs	Michelin-Tire Baby

Skin Creases, Congenital Symmetric Circumferential, 2

CSCSC2	Symmetric Circumferential Skin Creases, Congenital, 2
Congenital Symmetric Circumferential Skin Creases 2

Fibrosis Of Extraocular Muscles, Congenital, 1

Fibrosis Of Extraocular Muscles, Congenital, 3b	CFEOM1
Blepharoptosis With Absent Eye Movements	Congenital Fibrosis Of The Extraocular Muscles 1
Congenital Fibrosis Of Extraocular Muscles Type 1	Fibrosis
Ophthalmoplegia, Congenital	Feom1 Locus
Congenital Ophthalmoplegia	Feom1
CFEOM3B	Fibrosis, Extraocular Muscles, Congenital, Type 1
Congenital Fibrosis Of The Extraocular Muscles

Congenital Fibrosis Of The Extraocular Muscles

Congenital Fibrosis Of Extraocular Muscles	Cfeom
Feom	Congenital External Ophthalmoplegia
Congenital Fibrosis Syndrome	General Fibrosis Syndrome

Microlissencephaly

Medulloblastoma Shh Activated And Tp53 Mutant

Medulloblastoma Non-Wnt/Non-Shh

Immunodeficiency 50

Combined Immunodeficiency Due To Moesin Deficiency	IMD50
Immunodeficiency 50, X-Linked Recessive	Cid Due To Moesin Deficiency
Msn-Related Combined Immunodeficiency	X-Linked Moesin-Associated Immunodeficiency
Immunodeficiency 50 X Linked Recessive

Medulloblastoma Shh Activated And Tp53 Wild-Type

Medulloblastoma Shh-Activated Tp53-Wildtype

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

Neurofibromatosis-Noonan Syndrome

NFNS	Neurofibromatosis Type 1
Neurofibromatosis With Noonan Phenotype	Nf1
Von Recklinghausen Disease	Neurofibromatosis Type 1-Noonan Syndrome
Noonan Neurofibromatosis Syndrome	Recklinghausen'S Disease
Noonan-Neurofibromatosis Syndrome	Fibromatosis Multiple Non Ossifying
Disseminated Nonossifying Fibromas In Association With Cafe-Au-Lait Spots	Jaffe Campanacci Syndrome
Type 1 Neurofibromatosis	Neurofibromatosis 1
Peripheral Neurofibromatosis	Recklinghausen Disease, Nerve
Jaffe-Campanacci Syndrome

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

Polymicrogyria

Pmg

Nephronophthisis

Medullary Cystic Disease	Medullary Cystic Kidney
Nph	Nphp
Kidney Disease, Cystic, Medullary

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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-RS15252	TUBB2A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	TUBB2A	VGNC	VGNC:54244
Rattus norvegicus	TUBB2A	RGD	RGD:1588452
Mus musculus	TUBB2A	MGD	MGI:107861

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