1. Gene
  2. TUBA8 - tubulin alpha 8 Gene

TUBA8 - tubulin alpha 8 Gene

Homo sapiens

Also known as CDCBM8; TUBAL2; MACTHC2

Gene ID: 51807 | Gene type: protein coding

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

TUBA8 Protein Structure

Tubulin

Tubulin: Tubulin/FtsZ family, GTPase domain (3 - 225)

Tubulin_C

Tubulin_C: Tubulin C-terminal domain (263 - 392)

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  • 449 a.a.
Protein Preferred Names Protein Names

tubulin alpha-8 chain

tubulin alpha 8 trucated form

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

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