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
364630792023Genetic screening and analysis of TUBB8 variants in females seeking ART.2
367351562023A novel compound heterozygous mutation in TUBB8 causing early embryonic developmental arrest.1
375973482023Evaluation of TUBB8 gene alterations in infertile women with oocyte maturation and cleavage arrest referred to Royan Institute.0
376728712023TUBB8 mutations as a cause of oocyte maturation abnormalities: presentation of oocyte and embryo profiles and novel mutations.0
379041452023Phenotypic variability in two female siblings with oocyte maturation arrest due to a TUBB8 variant.0
380075252023Novel variants in TUBB8 gene cause multiple phenotypic abnormalities in human oocytes and early embryos.0
364630792023Genetic screening and analysis of TUBB8 variants in females seeking ART.2
367351562023A novel compound heterozygous mutation in TUBB8 causing early embryonic developmental arrest.1
375973482023Evaluation of TUBB8 gene alterations in infertile women with oocyte maturation and cleavage arrest referred to Royan Institute.0
376728712023TUBB8 mutations as a cause of oocyte maturation abnormalities: presentation of oocyte and embryo profiles and novel mutations.0
379041452023Phenotypic variability in two female siblings with oocyte maturation arrest due to a TUBB8 variant.0
380075252023Novel variants in TUBB8 gene cause multiple phenotypic abnormalities in human oocytes and early embryos.0
353544902022Mutation analysis of the TUBB8 gene in primary infertile women with oocyte maturation arrest.11
363357662022Novel mutations in TUBB8 and ZP3 cause human oocyte maturation arrest and female infertility.2
353544902022Mutation analysis of the TUBB8 gene in primary infertile women with oocyte maturation arrest.11

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-(tubulin-beta-8-class-viii)