TUBB8 tubulin beta 8 class VIII [Homo sapiens (human)] - Gene

Summary

Official Symbol: TUBB8provided by HGNC
Official Full Name: tubulin beta 8 class VIIIprovided by HGNC
Primary source: HGNC:HGNC:20773
See related: Ensembl:ENSG00000261456 MIM:616768; AllianceGenome:HGNC:20773
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OOMD; OOMD2; OZEMA2; bA631M21.2
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]
Expression: Low expression observed in reference dataset See more
Orthologs: all
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Genomic context

Location:: 10p15.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (46455..76621, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (39271..69557, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (92828..122561, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel variants in TUBB8 gene cause multiple phenotypic abnormalities in human oocytes and early embryos.
Title: Novel variants in TUBB8 gene cause multiple phenotypic abnormalities in human oocytes and early embryos.
TUBB8 mutations as a cause of oocyte maturation abnormalities: presentation of oocyte and embryo profiles and novel mutations.
Title: TUBB8 mutations as a cause of oocyte maturation abnormalities: presentation of oocyte and embryo profiles and novel mutations.
Phenotypic variability in two female siblings with oocyte maturation arrest due to a TUBB8 variant.
Title: Phenotypic variability in two female siblings with oocyte maturation arrest due to a TUBB8 variant.
Evaluation of TUBB8 gene alterations in infertile women with oocyte maturation and cleavage arrest referred to Royan Institute.
Title: Evaluation of TUBB8 gene alterations in infertile women with oocyte maturation and cleavage arrest referred to Royan Institute.
A novel compound heterozygous mutation in TUBB8 causing early embryonic developmental arrest.
Title: A novel compound heterozygous mutation in TUBB8 causing early embryonic developmental arrest.
Genetic screening and analysis of TUBB8 variants in females seeking ART.
Title: Genetic screening and analysis of TUBB8 variants in females seeking ART.
Novel mutations in TUBB8 and ZP3 cause human oocyte maturation arrest and female infertility.
Title: Novel mutations in TUBB8 and ZP3 cause human oocyte maturation arrest and female infertility.
Mutation analysis of the TUBB8 gene in primary infertile women with oocyte maturation arrest.
Title: Mutation analysis of the TUBB8 gene in primary infertile women with oocyte maturation arrest.
Expanding the Genetic and Phenotypic Spectrum of Female Infertility Caused by TUBB8 Mutations.
Title: Expanding the Genetic and Phenotypic Spectrum of Female Infertility Caused by TUBB8 Mutations.
TUBB8 Mutations Cause Female Infertility with Large Polar Body Oocyte and Fertilization Failure.
Title: TUBB8 Mutations Cause Female Infertility with Large Polar Body Oocyte and Fertilization Failure.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Oocyte maturation defect 2 MedGen: C4225210 OMIM: 616780 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Rev	rev	Rev acts to depolymerize microtubules that are formed by tubulin, an effect that is observed during HIV-1 infection	PubMed
Tat	tat	HIV-1 Tat K29A, K50R, and K51R lysine mutations downregulate the proportion of soluble tubulin in cells, while the majority of other lysine mutations upregulate the percentage of soluble tubulin compared with the wild-type	PubMed
	tat	In Jurkat cells expressing HIV-1 Tat, decreased expression levels are found for basic cytoskeletal proteins such as actin, beta-tubulin, annexin, cofilin, gelsolin, and Rac/Rho-GDI complex	PubMed
	tat	HIV-1 Tat (amino acids 36-39) binds tubulin alpha/beta dimers and polymerized microtubules leading to the alteration of microtubule dynamics and activation of a mitochondria-dependent apoptotic pathway that is facilitated by the Bcl-2 relative Bim	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:484663

RH93426 (e-PCR)
- UniSTS:84608

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP binding	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables molecular_function	ND No biological Data available more info
enables structural constituent of cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in microtubule cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in oocyte maturation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spindle assembly involved in female meiosis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	PubMed
located_in intercellular bridge	IDA Inferred from Direct Assay more info
located_in meiotic spindle	IDA Inferred from Direct Assay more info	PubMed
is_active_in microtubule	IBA Inferred from Biological aspect of Ancestor more info
located_in microtubule cytoskeleton	IDA Inferred from Direct Assay more info
located_in mitotic spindle	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: tubulin beta-8 chain

Names: HSA10p15 beta-tubulin 4Q

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_046777.1 RefSeqGene

Range

32160..34568

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001389618.1 → NP_001376547.1 tubulin beta-8 chain isoform 2

Status: REVIEWED

Source sequence(s)

AL713922

UniProtKB/TrEMBL

B4DQN9

Conserved Domains (1) summary

PLN00220
Location:1 → 355

PLN00220; tubulin beta chain; Provisional
NM_001389619.1 → NP_001376548.1 tubulin beta-8 chain isoform 2

Status: REVIEWED

Source sequence(s)

AL713922

UniProtKB/TrEMBL

B4DQN9

Conserved Domains (1) summary

PLN00220
Location:1 → 355

PLN00220; tubulin beta chain; Provisional
NM_177987.3 → NP_817124.1 tubulin beta-8 chain isoform 1

See identical proteins and their annotated locations for NP_817124.1

Status: REVIEWED

Source sequence(s)

AL713922

Consensus CDS

CCDS7051.1

UniProtKB/Swiss-Prot

Q3ZCM7, Q5SQX9, Q8WZ78

UniProtKB/TrEMBL

A0A075B736

Related

ENSP00000456206.2, ENST00000568584.6

Conserved Domains (2) summary

PTZ00010
Location:1 → 427

PTZ00010; tubulin beta chain; Provisional

cd02187
Location:2 → 426

beta_tubulin; The beta-tubulin family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

46455..76621 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047425177.1 → XP_047281133.1 tubulin beta-8 chain isoform X2
XM_017016193.3 → XP_016871682.1 tubulin beta-8 chain isoform X1

UniProtKB/TrEMBL

Q9BUU9

Alternate T2T-CHM13v2.0

Genomic

NC_060934.1 Alternate T2T-CHM13v2.0

Range

39271..69557 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054365757.1 → XP_054221732.1 tubulin beta-8 chain isoform X2

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001164154.1: Suppressed sequence

Description

NM_001164154.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.