Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KRT12 Gene

Aliases for KRT12 Gene

  • Keratin 12 2 3 5
  • Keratin 12, Type I 2 3
  • Cytokeratin-12 3 4
  • CK-12 3 4
  • K12 3 4
  • Keratin, Type I Cytoskeletal 12 3
  • Meesmann Corneal Dystrophy 2
  • Keratin-12 4

External Ids for KRT12 Gene

Previous GeneCards Identifiers for KRT12 Gene

  • GC17M038517
  • GC17M041194
  • GC17M038764
  • GC17M039390
  • GC17M036271
  • GC17M039017
  • GC17M034811

Summaries for KRT12 Gene

Entrez Gene Summary for KRT12 Gene

  • KRT12 encodes the type I intermediate filament chain keratin 12, expressed in corneal epithelia. Mutations in this gene lead to Meesmann corneal dystrophy. [provided by RefSeq, Jul 2008]

GeneCards Summary for KRT12 Gene

KRT12 (Keratin 12) is a Protein Coding gene. Diseases associated with KRT12 include Corneal Dystrophy, Meesmann and Corneal Dystrophy. Among its related pathways are Keratinization and Developmental Biology. Gene Ontology (GO) annotations related to this gene include structural molecule activity. An important paralog of this gene is KRT24.

UniProtKB/Swiss-Prot for KRT12 Gene

  • May play a unique role in maintaining the normal corneal epithelial function. Together with KRT3, essential for the maintenance of corneal epithelium integrity (By similarity).

Gene Wiki entry for KRT12 Gene

Additional gene information for KRT12 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRT12 Gene

Genomics for KRT12 Gene

GeneHancer (GH) Regulatory Elements for KRT12 Gene

Promoters and enhancers for KRT12 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I040867 Promoter 0.7 EPDnew 550.8 0.0 -33 0.1 ZNF148 ZNF639 GABPA KRT12 GC17P040941 LOC105371777
GH17I040900 Enhancer 1.4 Ensembl ENCODE dbSUPER 11 -35.6 -35588 5 PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 YY1 FOS SP5 KRT23 SNORD124 KRT12 TMEM99 KRT28 KRTAP3-2 KRT40 KRT37 KRT38 KRT26
GH17I040896 Enhancer 0.2 dbSUPER 11 -29.7 -29658 1.2 ENSG00000234477 KRT12 KRT40 KRT28 TMEM99 KRT26 KRTAP3-1 KRT23 KRT20 GC17P040941
GH17I040857 Enhancer 1 Ensembl ENCODE 0.4 +9.9 9945 0.3 HDGF ZNF2 RAD21 CHAMP1 GTF3C2 ZNF121 RCOR1 SMARCA5 ZNF362 ZNF654 THRA ENSG00000259623 KRT20 KRT28 KRT222 KRTAP1-5 KRT37 KRTAP1-4 LOC100505782 KRT31
GH17I040858 Enhancer 0.4 ENCODE 0.4 +9.6 9566 0.2 CTCF AFF1 ZNF592 TMEM99 KRT20 KRT28 KRTAP1-4 KRT31 LOC100505782 ENSG00000265359 GC17P040954 KRT12 LOC105371777
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KRT12 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KRT12 gene promoter:

Genomic Locations for KRT12 Gene

Genomic Locations for KRT12 Gene
6,033 bases
Minus strand

Genomic View for KRT12 Gene

Genes around KRT12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRT12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRT12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRT12 Gene

Proteins for KRT12 Gene

  • Protein details for KRT12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Keratin, type I cytoskeletal 12
    Protein Accession:
    Secondary Accessions:
    • B2R9E0

    Protein attributes for KRT12 Gene

    494 amino acids
    Molecular mass:
    53511 Da
    Quaternary structure:
    • Heterotetramer of two type I and two type II keratins. Keratin-3 associates with keratin-12.
    • There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa).

neXtProt entry for KRT12 Gene

Post-translational modifications for KRT12 Gene

No Post-translational modifications

Other Protein References for KRT12 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRT12 Gene

Domains & Families for KRT12 Gene

Gene Families for KRT12 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for KRT12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the intermediate filament family.
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with KRT12: view

Function for KRT12 Gene

Molecular function for KRT12 Gene

GENATLAS Biochemistry:
keratine 12,type I,acidic,expressed during corneal differentiation
UniProtKB/Swiss-Prot Function:
May play a unique role in maintaining the normal corneal epithelial function. Together with KRT3, essential for the maintenance of corneal epithelium integrity (By similarity).

Gene Ontology (GO) - Molecular Function for KRT12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
genes like me logo Genes that share ontologies with KRT12: view
genes like me logo Genes that share phenotypes with KRT12: view

Human Phenotype Ontology for KRT12 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KRT12 Gene

MGI Knock Outs for KRT12:

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , miRNA , Transcription Factor Targets and HOMER Transcription for KRT12 Gene

Localization for KRT12 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KRT12 gene
Compartment Confidence
extracellular 5
cytosol 5
cytoskeleton 4
nucleus 3

Gene Ontology (GO) - Cellular Components for KRT12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA --
GO:0070062 extracellular exosome IDA,HDA 19199708
genes like me logo Genes that share ontologies with KRT12: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRT12 Gene

Pathways & Interactions for KRT12 Gene

SuperPathways for KRT12 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRT12: view

Pathways by source for KRT12 Gene

2 Reactome pathways for KRT12 Gene

Interacting Proteins for KRT12 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
Selected Interacting proteins: ENSP00000251643 Q99456-K1C12_HUMAN for KRT12 Gene via STRING IID

Gene Ontology (GO) - Biological Process for KRT12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception TAS 9171831
GO:0031424 keratinization TAS --
GO:0070268 cornification TAS --
genes like me logo Genes that share ontologies with KRT12: view

No data available for SIGNOR curated interactions for KRT12 Gene

Drugs & Compounds for KRT12 Gene

(3) Drugs for KRT12 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Griseofulvin Approved, Investigational, Vet_approved Pharma Target, other/unknown 6
genes like me logo Genes that share compounds with KRT12: view

Transcripts for KRT12 Gene

mRNA/cDNA for KRT12 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(283) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KRT12 Gene

Keratin 12:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for KRT12 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10
SP1: - -
SP2: -
SP3: - -

Relevant External Links for KRT12 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KRT12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KRT12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KRT12 Gene

This gene is overexpressed in Colon - Transverse (x19.6) and Small Intestine - Terminal Ileum (x10.3).

Protein differential expression in normal tissues from HIPED for KRT12 Gene

This gene is overexpressed in Urine (48.0) and Saliva (16.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KRT12 Gene

Protein tissue co-expression partners for KRT12 Gene

NURSA nuclear receptor signaling pathways regulating expression of KRT12 Gene:


SOURCE GeneReport for Unigene cluster for KRT12 Gene:


mRNA Expression by UniProt/SwissProt for KRT12 Gene:

Tissue specificity: Cornea specific.

Evidence on tissue expression from TISSUES for KRT12 Gene

  • Eye(5)
  • Blood(4.4)
  • Adrenal gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KRT12 Gene

Germ Layers:
  • ectoderm
  • nervous
Head and neck:
  • eye
  • head
genes like me logo Genes that share expression patterns with KRT12: view

Primer Products

Orthologs for KRT12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KRT12 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia KRT12 33 34
  • 99.66 (n)
(Bos Taurus)
Mammalia KRT12 33 34
  • 88.51 (n)
(Canis familiaris)
Mammalia KRT12 33 34
  • 88.51 (n)
(Mus musculus)
Mammalia Krt12 33 16 34
  • 79.15 (n)
(Rattus norvegicus)
Mammalia Krt12 33
  • 78.68 (n)
(Monodelphis domestica)
Mammalia KRT12 34
  • 71 (a)
(Gallus gallus)
Aves KRT12 33 34
  • 68.93 (n)
(Anolis carolinensis)
Reptilia KRT12 34
  • 65 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486967 33
  • 65.3 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC398464 33
Species where no ortholog for KRT12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for KRT12 Gene

Gene Tree for KRT12 (if available)
Gene Tree for KRT12 (if available)

Paralogs for KRT12 Gene

Paralogs for KRT12 Gene

genes like me logo Genes that share paralogs with KRT12: view

Variants for KRT12 Gene

Sequence variations from dbSNP and Humsavar for KRT12 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs267607386 not-provided, not provided, Corneal dystrophy, Meesmann (MECD) [MIM:122100] 40,863,141(-) A/C coding_sequence_variant, missense_variant
rs267607387 not-provided, not provided, Corneal dystrophy, Meesmann (MECD) [MIM:122100] 40,866,802(-) T/C coding_sequence_variant, missense_variant
rs28936695 pathogenic, not-provided, Meesman's corneal dystrophy, not provided, Corneal dystrophy, Meesmann (MECD) [MIM:122100] 40,866,801(-) A/G coding_sequence_variant, missense_variant
rs57218384 pathogenic, not-provided, Meesman's corneal dystrophy, not provided, Corneal dystrophy, Meesmann (MECD) [MIM:122100], Corneal dystrophy, Meesmann (MECD) [MIM:122100] 40,866,783(-) C/A/G coding_sequence_variant, missense_variant
rs58038639 not-provided, not provided, Corneal dystrophy, Meesmann (MECD) [MIM:122100] 40,866,778(-) C/G coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for KRT12 Gene

Variant ID Type Subtype PubMed ID
nsv1146669 OTHER inversion 26484159

Variation tolerance for KRT12 Gene

Residual Variation Intolerance Score: 62.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.32; 70.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRT12 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT12 Gene

Disorders for KRT12 Gene

MalaCards: The human disease database

(16) MalaCards diseases for KRT12 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search KRT12 in MalaCards View complete list of genes associated with diseases


  • Corneal dystrophy, Meesmann (MECD) [MIM:122100]: An autosomal dominant corneal disease characterized by fragility of the anterior corneal epithelium. Patients are usually asymptomatic until adulthood when rupture of the corneal microcysts may cause erosions, producing clinical symptoms such as photophobia, contact lens intolerance and intermittent diminution of visual acuity. Rarely, subepithelial scarring causes irregular corneal astigmatism and permanent visual impairment. Histological examination shows a disorganized and thickened epithelium with widespread cytoplasmic vacuolation and numerous small, round, debris-laden intraepithelial cysts. {ECO:0000269 PubMed:10644419, ECO:0000269 PubMed:10781519, ECO:0000269 PubMed:12543196, ECO:0000269 PubMed:15148206, ECO:0000269 PubMed:16227835, ECO:0000269 PubMed:16352477, ECO:0000269 PubMed:17653038, ECO:0000269 PubMed:18245975, ECO:0000269 PubMed:18661274, ECO:0000269 PubMed:20577595, ECO:0000269 PubMed:23222558, ECO:0000269 PubMed:24099278, ECO:0000269 PubMed:9171831, ECO:0000269 PubMed:9399908}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for KRT12

genes like me logo Genes that share disorders with KRT12: view

No data available for Genatlas for KRT12 Gene

Publications for KRT12 Gene

  1. Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. (PMID: 9171831) Irvine AD … McLean WH (Nature genetics 1997) 2 3 4 22 58
  2. A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family. (PMID: 18245975) Nielsen K … Ehlers N (Cornea 2008) 3 4 22 58
  3. A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy. (PMID: 18661274) Seto T … Kanai A (Japanese journal of ophthalmology 2008) 3 4 22 58
  4. A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy. (PMID: 17653038) Sullivan LS … Yee RW (Molecular vision 2007) 3 4 22 58
  5. Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy. (PMID: 16227835) Chen YT … Chao SC (Cornea 2005) 3 4 22 58

Products for KRT12 Gene

Sources for KRT12 Gene

Loading form....