Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 79983
MIM: 300603
HGNC: 13711
Ensembl: ENSG00000124429
Variants:
dbSNP: 79983
ClinVar: 79983
TCGA: ENSG00000124429
COSMIC: POF1B
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000124429 | ENST00000262753 | Q8WVV4 |
| ENSG00000124429 | ENST00000373145 | Q8WVV4 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34423420 | 2021 | A novel POF1B variant in a Chinese patient is associated with premature ovarian failure. | 1 |
| 34423420 | 2021 | A novel POF1B variant in a Chinese patient is associated with premature ovarian failure. | 1 |
| 25084053 | 2015 | POF1B localizes to desmosomes and regulates cell adhesion in human intestinal and keratinocyte cell lines. | 5 |
| 25084053 | 2015 | POF1B localizes to desmosomes and regulates cell adhesion in human intestinal and keratinocyte cell lines. | 5 |
| 21940798 | 2011 | The POF1B candidate gene for premature ovarian failure regulates epithelial polarity. | 9 |
| 21940798 | 2011 | The POF1B candidate gene for premature ovarian failure regulates epithelial polarity. | 9 |
| 20734064 | 2010 | A large-scale candidate gene association study of age at menarche and age at natural menopause. | 57 |
| 20734064 | 2010 | A large-scale candidate gene association study of age at menarche and age at natural menopause. | 57 |
| 15459172 | 2004 | Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B. | 32 |
| 15459172 | 2004 | Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B. | 32 |
| 15459172 | 2004 | Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B. | 32 |
| 15459172 | 2004 | Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B. | 32 |
Citation
Dessen P
POF1B (POF1B actin binding protein)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/72042/pof1b-(pof1b-actin-binding-protein)
