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: 126638
MIM: 613259
HGNC: 26809
Ensembl: ENSG00000215853
Variants:
dbSNP: 126638
ClinVar: 126638
TCGA: ENSG00000215853
COSMIC: RPTN
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000215853 | ENST00000316073 | Q6XPR3 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Developmental Biology | REACTOME | R-HSA-1266738 |
| Keratinization | REACTOME | R-HSA-6805567 |
| Formation of the cornified envelope | REACTOME | R-HSA-6809371 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 29935789 | 2018 | Variation in the RPTN gene may facilitate straight hair formation in Europeans and East Asians. | 6 |
| 29935789 | 2018 | Variation in the RPTN gene may facilitate straight hair formation in Europeans and East Asians. | 6 |
| 28219068 | 2017 | Altered Expression of Genes Encoding Cornulin and Repetin in Atopic Dermatitis. | 12 |
| 28219068 | 2017 | Altered Expression of Genes Encoding Cornulin and Repetin in Atopic Dermatitis. | 12 |
| 25613293 | 2015 | Diminished serum repetin levels in patients with schizophrenia and bipolar disorder. | 1 |
| 25613293 | 2015 | Diminished serum repetin levels in patients with schizophrenia and bipolar disorder. | 1 |
Citation
Dessen P
RPTN (repetin)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/72880/rptn-(repetin)
