TUBB4A - tubulin beta 4A class IVa Gene

Also Known as DYT4; TUBB4; beta-5

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10382

About TUBB4A

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:6,494,319-6,502,848 (from NCBI)

This gene has 13 transcripts (splice variants), 87 orthologues, 23 paralogues and is associated with 5 phenotypes. Biased expression in brain (RPKM 224.5), adrenal (RPKM 54.5) and 1 other tissue.

Summary

This gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4. Alternate splicing results in multiple transcript variants encoding different isoforms. A pseudogene of this gene is found on chromosome X. [provided by RefSeq, Jan 2014]

TUBB4A Products (6)

mRNA	Protein	Name
NM_001289123.2	NP_001276052.1	tubulin beta-4A chain isoform 1
NM_001289127.2	NP_001276056.1	tubulin beta-4A chain isoform 2
NM_001289129.2	NP_001276058.1	tubulin beta-4A chain isoform 3
NM_001289130.2	NP_001276059.1	tubulin beta-4A chain isoform 4
NM_001289131.2	NP_001276060.1	tubulin beta-4A chain isoform 4
NM_006087.4	NP_006078.2	tubulin beta-4A chain isoform 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables calcium ion binding	IMP IMP: Inferred from mutant phenotype	10211825	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20195357	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of microtubule polymerization	IMP IMP: Inferred from mutant phenotype	10211825	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in axoneme	IDA IDA: Inferred from direct assay	12475942	GOA
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

TUBB4A Protein Structure

Tubulin

Tubulin_C

0
100
200
300
400
444 a.a.

Protein Preferred Names	Protein Names
tubulin beta-4A chain	dystonia 4, torsion (autosomal dominant)

TUBB4A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TUBB4A	P04350	LRRK2	Homo sapiens	Q5S007	Anti Tag CoIP	24275654
Intra	TUBB4A	P04350	NR4A1	Homo sapiens	P22736	TAP	20195357

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant TUBB4A Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71075	TUBB4A Protein, Human (His)	P04350 (M1-A444)	≥ 95%, as determined by reducing SDS-PAGE.

TUBB4A Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82522	beta IV Tubulin Antibody (YA2267)	WB, IHC-F, IHC-P, ICC/IF	Human, Mouse, Rat
HY-P82522A	beta IV Tubulin Antibody (YA2267)(PBS only)	WB, IHC-F, IHC-P, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
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
Dystonia 4, Torsion, Autosomal Dominant	DYT4 Dystonia Musculorum Deformans 4 Hereditary Whispering Dysphonia Whispering Dysphonia, Hereditary Dyt-Tubb4a Autosomal Dominant Torsion Dystonia-4 Whispering Dysphonia Primary Dystonia, Dyt4 Type Dystonia-4 Dystonia, Type 4, Torsion, Autosomal Dominant
Torsion Dystonia 4
Cerebral Palsy	Infantile Cerebral Palsy Mixed Cerebral Palsy Palsy Cerebral Palsy, Cerebral Cerebral Palsy, Mixed
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Tubulin, Beta
Leukodystrophy	Leukodystrophies
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Hypomyelinating Leukodystrophy	Hld Leukodystrophy, Hypomyelinating
Tubulinopathy	Tubulinopathies
Spasmodic Dystonia	Laryngeal Dystonia
Dystonia 25	DYT25 Dystonia-25 Dystonia, Type 25
Torsion Dystonia 2	Dystonia 2, Torsion, Autosomal Recessive
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Segmental Dystonia
Leukodystrophy, Hypomyelinating, 4	Mitochondrial Hsp60 Chaperonopathy Hypomyelinating Leukodystrophy 4 HLD4 Mitchap60 Disease Pelizaeus-Merzbacher-Like Disease Due To Hspd1 Mutation Mitchap-60 Disease Leukodystrophy, Hypomyelinating, Type 4
Fleck Retina, Familial Benign	FRFB Familial Benign Flecked Retina Familial Benign Fleck Retina
Larynx Squamous Papilloma	Laryngeal Squamous Cell Papilloma
Focal Dystonia	Dystonia, Focal, Task-Specific
Dystonia 12	DYT12 Rdp Generalized Dystonia Dystonia-12 Rapid-Onset Dystonia-Parkinsonism Familial Dystonia Dystonia Musculorum Deformans Dystonic Disorders Idiopathic Familial Dystonia Dystonia-Parkinsonism, Rapid-Onset Fragments Of Torsion Dystonia Dyt-Atp1a3 Rapid-Onset Dystonia Parkinsonism Rodp Dystonia, Type 12 Dystonia 3, Torsion, X-Linked Idiopathic Non-Familial Dystonia Symptomatic Torsion Dystonia Dystonia Disorders
Night Blindness, Congenital Stationary, Type 1h	Congenital Stationary Night Blindness 1h CSNB1H Congenital Stationary Night Blindness Type 1h Night Blindness, Congenital Stationary, 1h
Congenital Fibrosis Of The Extraocular Muscles	Congenital Fibrosis Of Extraocular Muscles Cfeom Feom Congenital External Ophthalmoplegia Congenital Fibrosis Syndrome General Fibrosis Syndrome
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2a	MLC2A Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, 2a Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, Type 2a
Pelizaeus-Merzbacher Disease	PMD HLD1 Pelizaeus-Merzbacher Brain Sclerosis Leukodystrophy, Hypomyelinating, 1 Diffuse Familial Brain Sclerosis Pelizaeus Merzbacher Brain Sclerosis Sudanophilic Leukodystrophy, Paelizeus-Merzbacher Type Cockayne-Pelizaeus-Merzbacher Disease Hypomyelinating Leukodystrophy 1 Leukodystrophy, Sudanophilic Pelizaeus Merzbacher Disease Hypomyelinating Leukodystrophy, 1 Sudanophilic Leukodystrophy Pelizaeus-Merzbacher Disease, Connatal Form Connatal Pmd Pelizaeus-Merzbacher Disease Type Ii Severe Pmd Null Syndrome Plp1 Null Syndrome Pelizaeus-Merzbacher Disease, Null Syndrome Brain Sclerosis Diffuse Familial Sudanophilic Leukodystrophy Paelizeus-Merzbacher Type Leukodystrophy Hypomyelinating 1 Diffuse Cerebral Sclerosis Of Schilder
Leukodystrophy, Hypomyelinating, 5	Hypomyelination And Congenital Cataract HLD5 Hypomyelination-Congenital Cataract Syndrome Hypomyelinating Leukodystrophy 5 Hcc Hypomyelination And Congenital Cataract: Hcc Hypomyelination - Congenital Cataract Hypomyelination With Congenital Cataract
Alternating Hemiplegia Of Childhood	Alternating Hemiplegia Ahc Alternating Hemiplegia Syndrome Hemiplegia, Alternating, Of Childhood Hemiplegia, Crossed
Mantle Cell Lymphoma	Lymphoma, Mantle Cell Lcm Mcl Mantle Zone Lymphoma Lymphoma Mantle-Cell Lymphoma, Mantle-Cell Malignant Lymphoma, Lymphocytic, Intermediate Differentiation, Diffuse Malignant Lymphoma - Lymphocytic, Intermediate Differentiation Diffuse Small Cleaved-Cell Lymphoma Diffuse Small Cleaved Cell Malignant Lymphoma Small Cleaved Cell Non-Hodgkin Lymphoma Diffuse Non-Hodgkin Small Cleaved Cell Lymphoma Malignant Lymphomatous Polyposis Malignant Small Cell, Noncleaved, Diffuse Lymphoma Malignant Undifferentiated Cell, Non-Burkitt Lymphoma Cleaved Cell Lymphoma Small Cell Mantle Cell Lymphoma Small Cleaved Cell Malignant Lymphoma

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15255	TUBB4A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20612	Tubb4a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27120	Tubb4a Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	TUBB4A	VGNC	VGNC:66700
Mus musculus	TUBB4A	MGD	MGI:107848
Bos taurus	TUBB4A	VGNC	VGNC:36507
Rattus norvegicus	TUBB4A	RGD	RGD:619730
Canis familiaris	TUBB4A	VGNC	VGNC:47989
Others	TUBB4A	NCBI