RPTN (repetin)

2014-11-01  

Identity

HGNC
LOCATION
1q21.3
LOCUSID
ALIAS
-

Other Information

Locus ID:

NCBI: 126638
MIM: 613259
HGNC: 26809
Ensembl: ENSG00000215853

Variants:

dbSNP: 126638
ClinVar: 126638
TCGA: ENSG00000215853
COSMIC: RPTN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000215853ENST00000316073Q6XPR3

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Developmental BiologyREACTOMER-HSA-1266738
KeratinizationREACTOMER-HSA-6805567
Formation of the cornified envelopeREACTOMER-HSA-6809371

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
299357892018Variation in the RPTN gene may facilitate straight hair formation in Europeans and East Asians.6
299357892018Variation in the RPTN gene may facilitate straight hair formation in Europeans and East Asians.6
282190682017Altered Expression of Genes Encoding Cornulin and Repetin in Atopic Dermatitis.12
282190682017Altered Expression of Genes Encoding Cornulin and Repetin in Atopic Dermatitis.12
256132932015Diminished serum repetin levels in patients with schizophrenia and bipolar disorder.1
256132932015Diminished 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)