KRT25 (keratin 25)

2014-11-01  

Identity

HGNC
LOCATION
17q21.2
LOCUSID
ALIAS
ARWH3,KRT24IRS1,KRT25A

Other Information

Locus ID:

NCBI: 147183
MIM: 616646
HGNC: 30839
Ensembl: ENSG00000204897

Variants:

dbSNP: 147183
ClinVar: 147183
TCGA: ENSG00000204897
COSMIC: KRT25

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000204897ENST00000312150Q7Z3Z0

Expression (GTEx)

0
1
2
3

Pathways

PathwaySourceExternal ID
Developmental BiologyREACTOMER-HSA-1266738
KeratinizationREACTOMER-HSA-6805567

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
359266552023A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies.1
359266552023A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies.1
288996832018A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis.2
288996832018A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis.2
261608562015A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair.8
261608562015A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair.8
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78

Citation

Dessen P

KRT25 (keratin 25)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/65018/