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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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KRT3
keratin 3
Chromosome 12 Β· 12q13.13
NCBI Gene: 3850Ensembl: ENSG00000186442.7HGNC: HGNC:6440UniProt: P12035
43PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingintermediate filament cytoskeleton organizationextracellular exosomekeratin filamentcorneal dystrophy, Meesmann, 2Meesmann corneal dystrophycorneal dystrophycorneal disease
✦AI Summary

KRT3 (keratin 3) is a type II cytokeratin located on chromosome 12-q13 1 that functions as a structural component of corneal epithelial intermediate filaments. KRT3 is a marker of differentiated corneal epithelial cells (CECs), with expression increasing upon limbal epithelial stem cell (LESC) differentiation 23. The protein is downregulated in undifferentiated stem cells and upregulated during corneal epithelial maturation, where it participates in keratinization and epithelial cell differentiation 45. KRT3 mutations cause Meesmann corneal dystrophy (MECD), an anterior corneal dystrophy characterized by bilateral epithelial microcysts and corneal opacities 67. Disease-associated variants include missense mutations and indels affecting the keratin protein structure, with some arising de novo 6. The clinical severity varies from minimal visual impairment to corneal blindness, depending on the specific mutation and phenotypic variability 7. KRT3 expression is regulated by multiple signaling pathways, including retinoic acid signaling and transcriptional factors like ETS1 and NRG1, which suppress KRT3 expression in stem cells to maintain proliferative capacity 423. Understanding KRT3 function enables molecular diagnosis and potential therapeutic targeting of corneal dystrophies.

Sources cited
1
KRT3 chromosomal localization to 12q12-q13 using FISH analysis
PMID: 7510223
2
KRT3 mutations cause anterior corneal dystrophies with variable clinical severity ranging from minimal to severe visual impairment
PMID: 19236704
3
KRT3 missense and indel mutations associated with Meesmann corneal dystrophy; characterization of pathogenic variants including de novo mutations
PMID: 26788030
4
KRT3 downregulation by retinoic acid and PAX6 knockdown in limbal epithelial cells; role in epithelial differentiation
PMID: 34827649
5
KRT3 is activated upon LESC differentiation into corneal epithelial cells; ETS1 suppresses KRT3 to maintain LESC proliferation
PMID: 36652264
6
KRT3 serves as differentiation marker for corneal epithelial cells in limbal stem cell differentiation studies
PMID: 36577775
7
KRT3 used as corneal epithelial cell marker; expressed during cell differentiation and transdifferentiation processes
PMID: 35163646
8
KRT3 upregulated upon NRG1 knockdown in LESCs; marker of corneal epithelial cell terminal differentiation
PMID: 38132478
Disease Associationsβ“˜21
corneal dystrophy, Meesmann, 2Open Targets
0.67Moderate
Meesmann corneal dystrophyOpen Targets
0.60Moderate
corneal dystrophyOpen Targets
0.30Weak
corneal diseaseOpen Targets
0.26Weak
congenital hereditary endothelial dystrophy of corneaOpen Targets
0.11Weak
neoplasmOpen Targets
0.10Suggestive
Sjogren syndromeOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
infectionOpen Targets
0.07Suggestive
esophageal adenocarcinomaOpen Targets
0.04Suggestive
central nervous system cancerOpen Targets
0.03Suggestive
esophageal squamous cell carcinomaOpen Targets
0.03Suggestive
renal fibrosisOpen Targets
0.03Suggestive
anemiaOpen Targets
0.03Suggestive
dry eye syndromeOpen Targets
0.03Suggestive
Barrett's esophagusOpen Targets
0.02Suggestive
non-small cell lung carcinomaOpen Targets
0.02Suggestive
psoriasisOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
Corneal dystrophy, Meesmann 2UniProt
Pathogenic Variants5
NM_057088.3(KRT3):c.1525G>A (p.Glu509Lys)Pathogenic
Corneal dystrophy, Meesmann, 2|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 509
NM_057088.3(KRT3):c.1492G>A (p.Glu498Lys)Likely pathogenic
Corneal dystrophy, Meesmann, 2
β˜…β˜†β˜†β˜†2021β†’ Residue 498
NM_057088.3(KRT3):c.1527G>T (p.Glu509Asp)Likely pathogenic
Corneal dystrophy, Meesmann, 2
β˜…β˜†β˜†β˜†2021β†’ Residue 509
NM_057088.3(KRT3):c.1493A>T (p.Glu498Val)Pathogenic
not provided|Corneal dystrophy, Meesmann, 2
β˜†β˜†β˜†β˜†2008β†’ Residue 498
NM_057088.3(KRT3):c.1508G>C (p.Arg503Pro)Pathogenic
not provided|Corneal dystrophy, Meesmann, 2
β˜†β˜†β˜†β˜†2005β†’ Residue 503
View on ClinVar β†—
Related Genes
KRT5Protein interaction100%KRT6CShared pathway75%KRT74Shared pathway75%KRT14Protein interaction71%KRT77Shared pathway50%KRT79Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
67%
Lung
0%
Heart
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
KRT3KRT5KRT6CKRT74KRT14KRT77KRT79
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P12035
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.00LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.74 [0.55–1.00]
RankingsWhere KRT3 stands among ~20K protein-coding genes
  • #9,749of 20,598
    Most Researched43
  • #3,590of 5,498
    Most Pathogenic Variants5
  • #9,595of 17,882
    Most Constrained (LOEUF)1.00
Genes detectedKRT3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Corneal dystrophies.
PMID: 19236704
Orphanet J Rare Dis Β· 2009
1.00
2
Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy.
PMID: 26788030
Mol Vis Β· 2015
0.90
3
Assignment of the human cytokeratin 3 gene (KRT3) to 12q12-->q13 by FISH.
PMID: 7510223
Cytogenet Cell Genet Β· 1994
0.80
4
Umbilical mass.
PMID: 20883694
Gastroenterology Β· 2010
0.70
5
Similarities in DSG1 and KRT3 Downregulation through Retinoic Acid Treatment and PAX6 Knockdown Related Expression Profiles: Does PAX6 Affect RA Signaling in Limbal Epithelial Cells?
PMID: 34827649
Biomolecules Β· 2021
0.60