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TUBA8 - tubulin alpha 8 Gene

Also Known as CDCBM8; TUBAL2; MACTHC2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51807

About TUBA8

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:18,110,809-18,131,732 (from NCBI)

This gene has 8 transcripts (splice variants), 153 orthologues, 23 paralogues and is associated with 3 phenotypes. Biased expression in heart (RPKM 36.8), testis (RPKM 14.8) and 3 other tissues.

Summary

This gene encodes a member of the alpha tubulin protein family. Alpha tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene are associated with polymicrogyria and optic nerve hypoplasia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]

TUBA8 Products (2)

mRNA	Protein	Name
NM_001193414.2	NP_001180343.1	tubulin alpha-8 chain isoform 2
NM_018943.3	NP_061816.1	tubulin alpha-8 chain isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	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

TUBA8 Protein Structure

Tubulin

Tubulin_C

0
100
200
300
400
449 a.a.

Protein Preferred Names	Protein Names
tubulin alpha-8 chain	tubulin alpha 8 trucated form

TUBA8 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P84836	TUBA8 Antibody (YA4533)	WB, IHC-P, ICC/IF, FC, ELISA	Human, Rat
HY-P84836A	TUBA8 Antibody (YA4533)(PBS only)	WB, IHC-P, ICC/IF, FC, ELISA	Human, Rat

Related Diseases

Diseases	Alias
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	MACTHC2
Polymicrogyria With Optic Nerve Hypoplasia
Polymicrogyria	Pmg
Colpocephaly	Vesiculocephaly
Tubulinopathy	Tubulinopathies
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
Microlissencephaly
Congenital Fibrosis Of The Extraocular Muscles	Congenital Fibrosis Of Extraocular Muscles Cfeom Feom Congenital External Ophthalmoplegia Congenital Fibrosis Syndrome General Fibrosis Syndrome
Band Heterotopia	Subcortical Band Heterotopia Double Cortex Syndrome Subcortical Laminar Heterotopia Double Cortex Band Heterotopia Of Brain BH Heco Heterotopic Cortex Familial Band Heterotopia Dc Dc Syndrome Heterotopia, Subcortical Band Sbh Sclh Bhy
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Cednik Syndrome CEDNIK Cerebral Dysgenesis, Neuropathy, Ichthyosis And Keratoderma Syndrome Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndro Cerebral Dysgenesis-Neuropathy-Ichthyosis-Palmoplantar Keratoderma Syndrome Cerebral Dysgenesis-Neuropathy-Ichthyosis-Keratoderma Syndrome Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Neurocutaneous Syndromes
Chromosome 22q11.2 Duplication Syndrome	Chromosome 22q11.2 Microduplication Syndrome 22q11.2 Microduplication Syndrome 22q11.2 Duplication Syndrome Duplication 22q11.2 Trisomy 22q11.2 22q11.2 Duplication Dup(22)(Q11)
Polymicrogyria, Bilateral Perisylvian, X-Linked	Bilateral Perisylvian Polymicrogyria Polymicrogyria, Bilateral Perisylvian Pmgx Perisylvian Syndrome, Congenital Bilateral Cbps Congenital Bilateral Perisylvian Syndrome Perisylvian Syndrome BPPX Bpp
Lissencephaly, X-Linked, 2	X-Linked Lissencephaly With Abnormal Genitalia Hydranencephaly With Abnormal Genitalia Xlag Xlisg X-Linked Lissencephaly With Ambiguous Genitalia LISX2 Lissencephaly, X-Linked 2 X-Linked Lissencephaly 2 X-Linked Lissencephaly-Corpus Callosum Agenesis-Genital Anomalies Syndrome Xlag Syndrome Lissencephaly, X-Linked, With Ambiguous Genitalia Xlis2 X-Linked Lissencephaly - Agenesis Of The Corpus Callosum - Genital Anomalies X-Linked Lissencephaly-Agenesis Of The Corpus Callosum-Genital Anomalies Syndrome Xlag Syndrome Lissencephaly X-Linked With Ambiguous Genitalia Lissencephaly, X-Linked, Type 2 Chromosome Xq26.3 Duplication Syndrome
Periventricular Nodular Heterotopia	Periventricular Heterotopia Pvnh Familial Nodular Heterotopia Heterotopia, Periventricular Periventricular Heterotopia, X-Linked
Hypomyelinating Leukodystrophy	Hld Leukodystrophy, Hypomyelinating
Miller-Dieker Lissencephaly Syndrome	Miller-Dieker Syndrome Mds MDLS Miller Dieker Syndrome Classical Lissencephaly Syndrome Lissencephaly Due To 17p13.3 Deletion Monosomy 17p13.3 Telomeric Deletion 17p Classical Lissencephaly
Lissencephaly	Pachygyria Broad Gyri Of Cerebrum Large Gyri Of Cerebrum Macrogyria
Chromosome 22q11.2 Deletion Syndrome, Distal	22q11.2 Deletion Syndrome Autosomal Dominant Opitz G/Bbb Syndrome Catch22 Cayler Cardiofacial Syndrome Conotruncal Anomaly Face Syndrome Digeorge Syndrome Sedlackova Syndrome Shprintzen Syndrome Velocardiofacial Syndrome 22q11.2 Distal Deletion Syndrome Distal 22q11.2 Microdeletion Syndrome 22q11.2ds Vcfs Velo-Cardio-Facial Syndrome Distal Chromosome 22q11.2 Deletion Syndrome Chromosome 22q11.2 Deletion Syndrome Distal Chromosome 22q11.2 Deletion Syndrome Deletion 22q11.2 Syndrome 22q11ds Catch 22 Digeorge Sequence Microdeletion 22q11.2 Monosomy 22q11 Takao Syndrome Distal Del(22)(Q11.2) Distal Monosomy 22q11.2 Catch 22 Syndrome Chromosome Deletion Syndrome 22q11.2, Distal
Pontocerebellar Hypoplasia	Pch Congenital Pontocerebellar Hypoplasia Opch Hypoplasia, Pontocerebellar Pontoneocerebellar Hypoplasia Nonsyndromic Pontocerebellar Hypoplasia
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-RS15249	TUBA8 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	TUBA8	VGNC	VGNC:98464
Canis familiaris	TUBA8	VGNC	VGNC:47987
Bos taurus	TUBA8	VGNC	VGNC:36504
Rattus norvegicus	TUBA8	RGD	RGD:1566041
Felis catus	TUBA8	VGNC	VGNC:66697
Mus musculus	TUBA8	MGD	MGI:1858225
Others	TUBA8	NCBI