KRT3 (keratin 3)

2014-11-01  

Identity

HGNC
LOCATION
12q13.13
LOCUSID
ALIAS
CK3,K3,MECD2

Other Information

Locus ID:

NCBI: 3850
MIM: 148043
HGNC: 6440
Ensembl: ENSG00000186442

Variants:

dbSNP: 3850
ClinVar: 3850
TCGA: ENSG00000186442
COSMIC: KRT3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000186442ENST00000417996P12035

Expression (GTEx)

0
1
2
3
4
5

Pathways

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

References

Pubmed IDYearTitleCitations
333469992021Coexistence of Meesmann Corneal Dystrophy and a Pseudo-Unilateral Lattice Corneal Dystrophy in a Patient With a Novel Pathogenic Variant in the Keratin K3 Gene: A Case Report.2
333469992021Coexistence of Meesmann Corneal Dystrophy and a Pseudo-Unilateral Lattice Corneal Dystrophy in a Patient With a Novel Pathogenic Variant in the Keratin K3 Gene: A Case Report.2
291623482018Human aniridia limbal epithelial cells lack expression of keratins K3 and K12.7
291623482018Human aniridia limbal epithelial cells lack expression of keratins K3 and K12.7
268990082016PAX6 Isoforms, along with Reprogramming Factors, Differentially Regulate the Induction of Cornea-specific Genes.24
268990082016PAX6 Isoforms, along with Reprogramming Factors, Differentially Regulate the Induction of Cornea-specific Genes.24
235690372013Autosomal-dominant Meesmann epithelial corneal dystrophy without an exon mutation in the keratin-3 or keratin-12 gene in a Chinese family.1
235690372013Autosomal-dominant Meesmann epithelial corneal dystrophy without an exon mutation in the keratin-3 or keratin-12 gene in a Chinese family.1
188068802008Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation.13
188068802008Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation.13
162278352005Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy.8
162278352005Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy.8

Citation

Dessen P

KRT3 (keratin 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/65022/krt3-(keratin-3)