TUBB8 (tubulin beta 8 class VIII)

2014-11-01  

Identity

HGNC
LOCATION
10p15.3
LOCUSID
ALIAS
OOMD,OOMD2,bA631M21.2

Other Information

Locus ID:

NCBI: 347688
MIM: 616768
HGNC: 20773
Ensembl: ENSG00000261456

Variants:

dbSNP: 347688
ClinVar: 347688
TCGA: ENSG00000261456
COSMIC: TUBB8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000261456ENST00000561967A0A075B724
ENSG00000261456ENST00000562809A0A075B735
ENSG00000261456ENST00000564130Q5SQY0
ENSG00000261456ENST00000567466A0A075B725
ENSG00000261456ENST00000568584Q3ZCM7
ENSG00000261456ENST00000568866A0A075B736

Expression (GTEx)

0
1
2

Pathways

PathwaySourceExternal ID
Gap junctionKEGGko04540
Pathogenic Escherichia coli infectionKEGGko05130
Gap junctionKEGGhsa04540
Pathogenic Escherichia coli infectionKEGGhsa05130
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
267898712016Mutations in TUBB8 and Human Oocyte Meiotic Arrest.0
272733442016Mutations in TUBB8 cause a multiplicity of phenotypes in human oocytes and early embryos.0
279899882017Novel mutations and structural deletions in TUBB8: expanding mutational and phenotypic spectrum of patients with arrest in oocyte maturation, fertilization or early embryonic development.0
286520982017Mutation analysis of the TUBB8 gene in nine infertile women with oocyte maturation arrest.0
296713632018Mutation analysis of the TUBB8 gene in primary infertile women with arrest in oocyte maturation.0
297042262018A novel mutation in the TUBB8 gene is associated with complete cleavage failure in fertilized eggs.0
298771022018Human oocyte maturation arrest caused by a novel missense mutation in TUBB8.0
302979062019The comprehensive mutational and phenotypic spectrum of TUBB8 in female infertility.0

Citation

Dessen P

TUBB8 (tubulin beta 8 class VIII)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75368/tubb8