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: 3859
MIM: 601687
HGNC: 6414
Ensembl: ENSG00000187242
Variants:
dbSNP: 3859
ClinVar: 3859
TCGA: ENSG00000187242
COSMIC: KRT12
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000187242 | ENST00000251643 | Q99456 |
| ENSG00000187242 | ENST00000647902 | A0A3B3ITG2 |
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 |
|---|---|---|---|
| 30535821 | 2019 | In vivo histology and p.L132V mutation in KRT12 gene in Japanese patients with Meesmann corneal dystrophy. | 5 |
| 30535821 | 2019 | In vivo histology and p.L132V mutation in KRT12 gene in Japanese patients with Meesmann corneal dystrophy. | 5 |
| 29162348 | 2018 | Human aniridia limbal epithelial cells lack expression of keratins K3 and K12. | 7 |
| 29162348 | 2018 | Human aniridia limbal epithelial cells lack expression of keratins K3 and K12. | 7 |
| 28567551 | 2017 | Mutation analysis of TGFBI and KRT12 in a case of concomitant keratoconus and granular corneal dystrophy. | 2 |
| 28567551 | 2017 | Mutation analysis of TGFBI and KRT12 in a case of concomitant keratoconus and granular corneal dystrophy. | 2 |
| 26899008 | 2016 | PAX6 Isoforms, along with Reprogramming Factors, Differentially Regulate the Induction of Cornea-specific Genes. | 24 |
| 26899008 | 2016 | PAX6 Isoforms, along with Reprogramming Factors, Differentially Regulate the Induction of Cornea-specific Genes. | 24 |
| 24099278 | 2014 | KRT12 mutations and in vivo confocal microscopy in two Japanese families with Meesmann corneal dystrophy. | 4 |
| 24801514 | 2014 | siRNA silencing of the mutant keratin 12 allele in corneal limbal epithelial cells grown from patients with Meesmann's epithelial corneal dystrophy. | 10 |
| 24099278 | 2014 | KRT12 mutations and in vivo confocal microscopy in two Japanese families with Meesmann corneal dystrophy. | 4 |
| 24801514 | 2014 | siRNA silencing of the mutant keratin 12 allele in corneal limbal epithelial cells grown from patients with Meesmann's epithelial corneal dystrophy. | 10 |
| 23222558 | 2013 | Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12. | 6 |
| 23233254 | 2013 | Allele-specific siRNA silencing for the common keratin 12 founder mutation in Meesmann epithelial corneal dystrophy. | 13 |
| 23569037 | 2013 | Autosomal-dominant Meesmann epithelial corneal dystrophy without an exon mutation in the keratin-3 or keratin-12 gene in a Chinese family. | 1 |
Citation
Dessen P
KRT12 (keratin 12)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/65008/krt12-(keratin-12)
