TUBB8 - tubulin beta 8 class VIII Gene

Homo sapiens

Also known as OOMD; OOMD2; bA631M21.2

Gene ID: 347688 | Gene type: protein coding

About TUBB8

Cytogenetic location: 10p15.3 Genomic coordinates (GRCh38): 10:46,455-76,621 (from NCBI)

This gene has 7 transcripts (splice variants), 20 orthologues, 23 paralogues and is associated with 2 phenotypes. Low expression observed in reference dataset.

Summary

The protein encoded by this gene represents the primary beta-tubulin subunit of oocytes and the early embryo. Defects in this gene, which is primate-specific, are a cause of oocyte maturation defect 2 and infertility. [provided by RefSeq, Mar 2016]

TUBB8 Products(3)

mRNA	Protein	Name
NM_001389618.1	NP_001376547.1	tubulin beta-8 chain isoform 2
NM_001389619.1	NP_001376548.1	tubulin beta-8 chain isoform 2
NM_177987.3	NP_817124.1	tubulin beta-8 chain isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in oocyte maturation	IMP IMP: Inferred from mutant phenotype	26789871	GOA
involved in spindle assembly involved in female meiosis	IMP IMP: Inferred from mutant phenotype	26789871	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in meiotic spindle	IDA IDA: Inferred from direct assay	26789871	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

TUBB8 Protein Structure

Tubulin

Tubulin_C

0
100
200
300
400
444 a.a.

Protein Preferred Names

Protein Names

tubulin beta-8 chain

HSA10p15 beta-tubulin 4Q

Related Diseases

Diseases

Alias

Oocyte Maturation Defect 2

OOMD2

Oocyte Maturation Defect, Type 2

Female Infertility Due To Oocyte Meiotic Arrest

Tubulin, Beta

Infertility

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

Multiple Synostoses Syndrome

Symphalangism-Brachydactyly Syndrome	Deafness-Hermann Type Symphalangism Syndrome
Facio-Audio-Symphalangism	Hearing Loss-Hermann Type Symphalangism Syndrome
Wl Syndrome	Multiple Synostosis Syndrome

Spermatogenic Failure

Azoospermia	Spgf
Spermatogenic Failure, Susceptibility To	Absent Sperm
Aspermatogenesis	Infertility Due To Azoospermia
Hypospermatogenesis	Azoospermatism

Premature Menopause

Primary Ovarian Insufficiency	Premature Ovarian Failure
Hypergonadotropic Hypogonadism	Premature Ovarian Insufficiency
Menopause - Premature	Menopause Praecox
Menopause Premature	Menopause, Premature
Female Hypergonadotropic Hypogonadism	Hypergonadotrophic Ovarian Failure
Primary Female Hypogonadism	Pof - [Premature Ovarian Failure]
Ovarian Failure	Ovarian Secretion Suppression
Ovary Hyposecretion	Ovary Secretion Deficiency
Premature Menopause Nos

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-RS15258	TUBB8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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