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: 3849
MIM: 600194
HGNC: 6439
Ensembl: ENSG00000172867
Variants:
dbSNP: 3849
ClinVar: 3849
TCGA: ENSG00000172867
COSMIC: KRT2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000172867 | ENST00000309680 | P35908 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Developmental Biology | REACTOME | R-HSA-1266738 |
| Keratinization | REACTOME | R-HSA-6805567 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36331357 | 2023 | Acral lamellar ichthyosis with amino acid substitution in the C-terminus of keratin 2. | 0 |
| 36331357 | 2023 | Acral lamellar ichthyosis with amino acid substitution in the C-terminus of keratin 2. | 0 |
| 32179842 | 2020 | Serum lipids, retinoic acid and phenol red differentially regulate expression of keratins K1, K10 and K2 in cultured keratinocytes. | 6 |
| 33081034 | 2020 | First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses. | 3 |
| 32179842 | 2020 | Serum lipids, retinoic acid and phenol red differentially regulate expression of keratins K1, K10 and K2 in cultured keratinocytes. | 6 |
| 33081034 | 2020 | First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses. | 3 |
| 26581228 | 2016 | Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis. | 21 |
| 26581228 | 2016 | Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis. | 21 |
| 22612346 | 2013 | Superficial epidermolytic ichthyosis: a report of two families. | 2 |
| 22612346 | 2013 | Superficial epidermolytic ichthyosis: a report of two families. | 2 |
| 17408392 | 2007 | A novel H1 domain mutation in the keratin 2 gene in a Japanese family with ichthyosis bullosa of Siemens. | 1 |
| 17408392 | 2007 | A novel H1 domain mutation in the keratin 2 gene in a Japanese family with ichthyosis bullosa of Siemens. | 1 |
| 12598329 | 2003 | Expression of keratin K2e in cutaneous and oral lesions: association with keratinocyte activation, proliferation, and keratinization. | 21 |
| 12598329 | 2003 | Expression of keratin K2e in cutaneous and oral lesions: association with keratinocyte activation, proliferation, and keratinization. | 21 |
Citation
Dessen P
KRT2 (keratin 2)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56215/krt2-(keratin-2)
