POF1B (POF1B actin binding protein)

2014-11-01  

Identity

HGNC
LOCATION
Xq21.1
LOCUSID
ALIAS
POF,POF2B

Other Information

Locus ID:

NCBI: 79983
MIM: 300603
HGNC: 13711
Ensembl: ENSG00000124429

Variants:

dbSNP: 79983
ClinVar: 79983
TCGA: ENSG00000124429
COSMIC: POF1B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000124429ENST00000262753Q8WVV4
ENSG00000124429ENST00000373145Q8WVV4

Expression (GTEx)

0
50
100
150
200
250

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
154591722004Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B.20
154591722004Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B.20
219407982011The POF1B candidate gene for premature ovarian failure regulates epithelial polarity.5
250840532015POF1B localizes to desmosomes and regulates cell adhesion in human intestinal and keratinocyte cell lines.2

Citation

Dessen P

POF1B (POF1B actin binding protein)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72042/pof1b