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TUBB8 - tubulin beta 8 class VIII Gene

Also Known as OOMD; OOMD2; bA631M21.2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 347688

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA

Biological Process GO Annotation	Evidence	References	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	References	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

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 Set	/	Unkown