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Aliases for KRT12 Gene

Aliases for KRT12 Gene

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

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, Type I) is a Protein Coding gene. Diseases associated with KRT12 include meesmann corneal dystrophy and corneal disease. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is KRT34.

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

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

Genomics for KRT12 Gene

Regulatory Elements for KRT12 Gene

Genomic Location for KRT12 Gene

Chromosome:
17
Start:
40,861,178 bp from pter
End:
40,867,210 bp from pter
Size:
6,033 bases
Orientation:
Minus strand

Genomic View for KRT12 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    Q99456-K1C12_HUMAN
    Recommended name:
    Keratin, type I cytoskeletal 12
    Protein Accession:
    Q99456
    Secondary Accessions:
    • B2R9E0

    Protein attributes for KRT12 Gene

    Size:
    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
    Miscellaneous:
    • 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

Proteomics data for KRT12 Gene at MOPED

Post-translational modifications for KRT12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Protein Domains for KRT12 Gene

Suggested Antigen Peptide Sequences for KRT12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q99456

UniProtKB/Swiss-Prot:

K1C12_HUMAN :
  • Belongs to the intermediate filament family.
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

Phenotypes for KRT12 Gene

MGI mutant phenotypes for KRT12:
inferred from 3 alleles
GenomeRNAi human phenotypes for KRT12:
genes like me logo Genes that share phenotypes with KRT12: view

Animal Models for KRT12 Gene

MGI Knock Outs for KRT12:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KRT12

In Situ Assay Products

Flow Cytometry Products

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

Localization for KRT12 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KRT12 Gene COMPARTMENTS Subcellular localization image for KRT12 gene
Compartment Confidence
extracellular 5
cytoskeleton 3

Gene Ontology (GO) - Cellular Components for KRT12 Gene

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRT12 Gene

Pathways & Interactions for KRT12 Gene

SuperPathways for KRT12 Gene

No Data Available

Interacting Proteins for KRT12 Gene

Selected Interacting proteins: Q99456-K1C12_HUMAN for KRT12 Gene via I2D

Symbol External ID(s) Details
UCHL5

Gene Ontology (GO) - Biological Process for KRT12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception TAS 9171831
GO:0060429 epithelium development IEA --
GO:0061303 cornea development in camera-type eye IEA --
genes like me logo Genes that share ontologies with KRT12: view

No data available for Pathways by source and SIGNOR curated interactions for KRT12 Gene

Drugs & Compounds for KRT12 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Griseofulvin Approved Pharma Target, other/unknown 0
arginine Nutra 346
proline Nutra 20
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KRT12

Flow Cytometry 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: - -
SP4:

Relevant External Links for KRT12 Gene

GeneLoc Exon Structure for
KRT12
ECgene alternative splicing isoforms for
KRT12

Expression for KRT12 Gene

mRNA expression in normal human tissues 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 and MOPED for KRT12 Gene



SOURCE GeneReport for Unigene cluster for KRT12 Gene Hs.66739

mRNA Expression by UniProt/SwissProt for KRT12 Gene

Q99456-K1C12_HUMAN
Tissue specificity: Cornea specific.
genes like me logo Genes that share expression patterns with KRT12: view

Protein tissue co-expression partners for KRT12 Gene

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia KRT12 35
  • 88.51 (n)
  • 87.47 (a)
KRT12 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KRT12 35
  • 88.51 (n)
  • 89.21 (a)
KRT12 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Krt12 35
  • 79.15 (n)
  • 79.01 (a)
Krt12 16
Krt12 36
  • 79 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KRT12 35
  • 99.66 (n)
  • 99.6 (a)
KRT12 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Krt12 35
  • 78.68 (n)
  • 78.46 (a)
oppossum
(Monodelphis domestica)
Mammalia KRT12 36
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves KRT12 35
  • 68.93 (n)
  • 70.64 (a)
KRT12 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KRT12 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486967 35
  • 65.3 (n)
  • 61.31 (a)
African clawed frog
(Xenopus laevis)
Amphibia LOC398464 35
Species with no ortholog for KRT12:
  • 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

ENSEMBL:
Gene Tree for KRT12 (if available)
TreeFam:
Gene Tree for KRT12 (if available)

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 Sequence Context AA Info Type MAF
VAR_003834 Corneal dystrophy, Meesmann (MECD)
VAR_003835 Corneal dystrophy, Meesmann (MECD)
VAR_008525 Corneal dystrophy, Meesmann (MECD)
VAR_008526 Corneal dystrophy, Meesmann (MECD)
VAR_008527 Corneal dystrophy, Meesmann (MECD)

Variation tolerance for KRT12 Gene

Residual Variation Intolerance Score: 62.32% 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)

Relevant External Links for KRT12 Gene

HapMap Linkage Disequilibrium report
KRT12
Human Gene Mutation Database (HGMD)
KRT12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for KRT12 Gene

Disorders for KRT12 Gene

MalaCards: The human disease database

(14) MalaCards diseases for KRT12 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
meesmann corneal dystrophy
  • corneal dystrophy, juvenile epithelial of meesmann
corneal disease
  • corneal diseases
macular corneal dystrophy
  • fehr corneal dystrophy
corneal dystrophy
  • hereditary corneal dystrophy
tyrosinemia, type ii
  • tyrosinemia type ii
- elite association
Search KRT12 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

K1C12_HUMAN
  • 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.

Relevant External Links for KRT12

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 A.D. … McLean W.H.I. (Nat. Genet. 1997) 2 23 67
  2. Ex vivo construction of an artificial ocular surface by combination of corneal limbal epithelial cells and a compressed collagen scaffold containing keratocytes. (PMID: 20109018) Mi S. … Connon C.J. (Tissue Eng Part A 2010) 23 67
  3. Activated Ras alters lens and corneal development through induction of distinct downstream targets. (PMID: 20105280) Burgess D. … Govindarajan V. (BMC Dev. Biol. 2010) 23 67
  4. Three-dimensional epithelial tissues generated from human embryonic stem cells. (PMID: 19405784) Hewitt K.J. … Garlick J.A. (Tissue Eng Part A 2009) 23 67
  5. Corneal limbal microenvironment can induce transdifferentiation of hair follicle stem cells into corneal epithelial-like cells. (PMID: 19074417) Blazejewska E.A. … Kruse F.E. (Stem Cells 2009) 23 67

Products for KRT12 Gene

Sources for KRT12 Gene

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