TUBB2A - tubulin beta 2A class IIa Gene

Also Known as TUBB; TUBB2; CDCBM5

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7280

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21044950	GOA

Cellular Component GO Annotation	Evidence	References	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

TUBB2A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TUBB2A	Q13885	ZNF488	Homo sapiens	Q96MN9-2	Validated Y2H	32814053
Intra	TUBB2A	Q13885	ZNF488	Homo sapiens	Q96MN9-2	Y2H Array	32814053
Intra	TUBB2A	Q13885	ZNF488	Homo sapiens	Q96MN9-2	Y2H Pooling	32814053
Intra	TUBB2A	Q13885	ACD	Homo sapiens	Q96AP0	Pull Down	21044950
Intra	TUBB2A	Q13885	CASP6	Homo sapiens	P55212	Y2H Array	32814053
Intra	TUBB2A	Q13885	CASP6	Homo sapiens	P55212	Y2H Pooling	32814053
Intra	TUBB2A	Q13885	CASP6	Homo sapiens	P55212	Validated Y2H	32814053
Intra	TUBB2A	Q13885	JUN	Homo sapiens	P05412	Y2H Pooling	32814053
Intra	TUBB2A	Q13885	JUN	Homo sapiens	P05412	Validated Y2H	32814053
Intra	TUBB2A	Q13885	JUN	Homo sapiens	P05412	Y2H Array	32814053
Intra	TUBB2A	Q13885	BECN1	Homo sapiens	Q14457	Y2H Array	32814053
Intra	TUBB2A	Q13885	BECN1	Homo sapiens	Q14457	Validated Y2H	32814053
Intra	TUBB2A	Q13885	BECN1	Homo sapiens	Q14457	Y2H Pooling	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

TUBB2A Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P84559	TUBB2A Antibody (YA4256)	WB, FC, ELISA	Human
HY-P84559A	TUBB2A Antibody (YA4256)(PBS only)	WB, FC, ELISA	Human

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

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 Set	/	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