TUBB8

tubulin beta 8 class VIII, the group of Tubulins

Basic information

Region (hg38): 10:46888-74163

Links

ENSG00000261456NCBI:347688OMIM:616768HGNC:20773Uniprot:Q3ZCM7AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • oocyte maturation defect 2 (Definitive), mode of inheritance: Semidominant
  • oocyte maturation defect 2 (Strong), mode of inheritance: AD
  • oocyte maturation defect 2 (Strong), mode of inheritance: AD
  • oocyte maturation defect 2 (Limited), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Oocyte maturation defect 2AD/ARGeneralGenetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testingObstetric26789871; 27273344
Attempts at IVF were not described as effective

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TUBB8 gene.

  • Oocyte_maturation_defect_2 (52 variants)
  • not_provided (19 variants)
  • Inborn_genetic_diseases (13 variants)
  • not_specified (2 variants)
  • CIC-rearranged_sarcoma (1 variants)
  • Inherited_oocyte_maturation_defect (1 variants)
  • Female_infertility (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TUBB8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000177987.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
1
clinvar
11
clinvar
1
clinvar
13
missense
10
clinvar
27
clinvar
30
clinvar
67
nonsense
1
clinvar
1
start loss
0
frameshift
2
clinvar
2
splice donor/acceptor (+/-2bp)
1
clinvar
1
Total 12 27 33 11 1

Highest pathogenic variant AF is 0.000272074

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function
FUNCTION: Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity). TUBB8 has a key role in meiotic spindle assembly and oocyte maturation (PubMed:26789871). {ECO:0000250, ECO:0000269|PubMed:26789871}.;
Disease
DISEASE: Oocyte maturation defect 2 (OOMD2) [MIM:616780]: An autosomal dominant infertility disorder caused by defective oocyte maturation. Oocytes are arrested at metaphase I, and have an abnormal or no detectable spindle on polarization microscopy. {ECO:0000269|PubMed:26789871, ECO:0000269|PubMed:27273344}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Pathway
Phagosome - Homo sapiens (human);Gap junction - Homo sapiens (human);Pathogenic Escherichia coli infection - Homo sapiens (human);Pathogenic Escherichia coli infection;Parkin-Ubiquitin Proteasomal System pathway;Post-translational protein modification;Metabolism of proteins;Carboxyterminal post-translational modifications of tubulin (Consensus)

Intolerance Scores

loftool
rvis_EVS
0.15
rvis_percentile_EVS
64.51

Haploinsufficiency Scores

pHI
hipred
N
hipred_score
0.255
ghis
0.398

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.539

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Gene ontology

Biological process
microtubule cytoskeleton organization;mitotic cell cycle;oocyte maturation;microtubule-based process;spindle assembly involved in female meiosis
Cellular component
cytoplasm;microtubule;extracellular exosome;meiotic spindle
Molecular function
molecular_function;GTPase activity;structural constituent of cytoskeleton;GTP binding