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

    Gene ID: 347688, updated on 14-Nov-2024

    Summary

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    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

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    See TUBB8 in Genome Data Viewer
    Location:
    10p15.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (46455..76621, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (39271..69557, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (92828..122561, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:81665-82164 Neighboring gene uncharacterized LOC124902360 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:93160-93307 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2890 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2057 Neighboring gene IL9R pseudogene 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:180644-180822 Neighboring gene Sharpr-MPRA regulatory region 15592 Neighboring gene zinc finger MYND-type containing 11 Neighboring gene DEAD-box helicase 20 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    Related articles in PubMed

    1. Human oocyte maturation arrest caused by a novel missense mutation in TUBB8. Xiang J, et al. J Int Med Res, 2018 Sep. PMID 29877102, Free PMC Article
    2. Two mutations in TUBB8 cause developmental arrest in human oocytes and early embryos. Cao T, et al. Reprod Biomed Online, 2021 Nov. PMID 34509376
    3. Mutation analysis of the TUBB8 gene in primary infertile women with oocyte maturation arrest. Yao Z, et al. J Ovarian Res, 2022 Mar 30. PMID 35354490, Free PMC Article
    4. Expanding the Genetic and Phenotypic Spectrum of Female Infertility Caused by TUBB8 Mutations. Lu Q, et al. Reprod Sci, 2021 Dec. PMID 34494234
    5. TUBB8 Mutations Cause Female Infertility with Large Polar Body Oocyte and Fertilization Failure. Liu Z, et al. Reprod Sci, 2021 Oct. PMID 34160777

    See all (98) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. Genetic screening and analysis of TUBB8 variants in females seeking ART.
      Title: Genetic screening and analysis of TUBB8 variants in females seeking ART.
    7. 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.
    8. 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.
    9. 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.
    10. 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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    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ40100, RP11-631M21.2

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 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

    1. NG_046777.1 RefSeqGene

      Range
      32160..34568
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    2. 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

    3. 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_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      46455..76621 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425177.1 → XP_047281133.1  tubulin beta-8 chain isoform X2

    2. XM_017016193.3 → XP_016871682.1  tubulin beta-8 chain isoform X1

      UniProtKB/TrEMBL
      Q9BUU9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      39271..69557 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. 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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3ZCM7.2 GenPept UniProtKB/Swiss-Prot:Q3ZCM7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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