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] See more...

Aliases for KRT12 Gene

Aliases for KRT12 Gene

  • Keratin 12 2 3 5
  • K12 2 3 4
  • Keratin, Type I Cytoskeletal 12 3 4
  • Keratin 12, Type I 2 3
  • Cytokeratin-12 3 4
  • CK-12 3 4
  • Meesmann Corneal Dystrophy 2
  • Keratin-12 4
  • MECD1 3
  • KRT12 5

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, 1 and Corneal Dystrophy. Among its related pathways are Relaxin signaling pathway 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 Summary for KRT12 Gene

  • Involved in corneal epithelium organization, integrity and corneal keratin expression.

Gene Wiki entry for KRT12 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRT12 Gene

Genomics for KRT12 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KRT12 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J040900 Enhancer 1.2 ENCODE dbSUPER 11 -35.6 -35575 5 ZNF600 SSRP1 ATF2 KLF9 CEBPA ZNF10 JUND ZIC2 YY1 CEBPB KRT23 SNORD124 KRT12 KRT10-AS1 KRT28 KRTAP3-2 KRT40 KRT37 KRT38 KRT26
GH17J040896 Enhancer 0.2 dbSUPER 11 -29.6 -29645 1.2 KRT12 KRT40 KRT28 KRT10-AS1 KRT26 KRTAP3-1 KRT23 KRT20 lnc-TMEM99-4 ENSG00000234477
GH17J040895 Enhancer 0.2 Ensembl 11 -28.4 -28378 0.4 ENSG00000234477 KRT12 KRT40 KRT28 KRT26 KRTAP3-1 KRT20 lnc-TMEM99-4 KRT23 LOC105371777
GH17J040857 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 0.4 +9.7 9736 1.4 ZNF654 ZNF580 ZNF592 NFIC REST TRIM22 ZNF639 CTCF NBN RAD21 KRT10-AS1 KRT20 KRT28 KRTAP1-5 KRT37 KRTAP1-4 KRT31 LOC100505782 MED24 ENSG00000265359
GH17J040881 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 0.4 -16.6 -16648 4.7 CTCF CCAR2 ZNF384 ZNF518A ZNF18 ZC3H11A ZNF660 ZNF558 PRDM10 ZBTB20 HSALNG0116408 KRT20 lnc-KRT12-1 KRT10-AS1 MED24 ENSG00000234477 MSL1 KRT12 LOC105371777
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRT12 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRT12

Top Transcription factor binding sites by QIAGEN in the KRT12 gene promoter:
  • AREB6
  • COMP1
  • CUTL1
  • FOXO4
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4

Genomic Locations for KRT12 Gene

Latest Assembly
chr17:40,861,303-40,867,223
(GRCh38/hg38)
Size:
5,921 bases
Orientation:
Minus strand

Previous Assembly
chr17:39,017,555-39,023,475
(GRCh37/hg19 by Entrez Gene)
Size:
5,921 bases
Orientation:
Minus strand

chr17:39,017,555-39,023,462
(GRCh37/hg19 by Ensembl)
Size:
5,908 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr17(ALT_REF_LOCI_1):10,571-16,491 (-)

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:
    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

Post-translational modifications for KRT12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRT12 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Boster Bio Antibodies for KRT12

No data available for DME Specific Peptides for KRT12 Gene

Domains & Families for KRT12 Gene

Gene Families for KRT12 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for KRT12 Gene

InterPro:
Blocks:
  • Intermediate filament protein
  • Type I keratin signature

Suggested Antigen Peptide Sequences for KRT12 Gene

GenScript: Design optimal peptide antigens:
  • Keratin-12 (K1C12_HUMAN)

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

UniProtKB/Swiss-Prot Function:
Involved in corneal epithelium organization, integrity and corneal keratin expression.
GENATLAS Biochemistry:
keratine 12,type I,acidic,expressed during corneal differentiation

Phenotypes From GWAS Catalog for KRT12 Gene

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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT12

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
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
cytosol 5
extracellular 4
cytoskeleton 4
nucleus 3
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

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 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

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

Gene Ontology (GO) - Biological Process for KRT12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002009 morphogenesis of an epithelium IMP 26758872
GO:0007601 visual perception TAS 9171831
GO:0031424 keratinization TAS --
GO:0061303 cornea development in camera-type eye IMP 26758872
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Anthralin Approved Pharma Target, antagonist 6
Griseofulvin Approved, Investigational, Vet_approved Pharma Target, other/unknown 7
genes like me logo Genes that share compounds with KRT12: view

Transcripts for KRT12 Gene

mRNA/cDNA for KRT12 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT12

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

Expression for KRT12 Gene

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



Protein tissue co-expression partners for KRT12 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRT12

SOURCE GeneReport for Unigene cluster for KRT12 Gene:

Hs.66739

mRNA Expression by UniProt/SwissProt for KRT12 Gene:

Q99456-K1C12_HUMAN
Tissue specificity: Expressed in the corneal epithelium (at protein level).

Evidence on tissue expression from TISSUES for KRT12 Gene

  • Eye(5)
  • Blood(4.5)
  • Nervous system(2.4)
  • Lung(2.3)
  • Intestine(2.2)
  • Heart(2.2)
  • Adrenal gland(2)

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

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

Primer products for research

Orthologs for KRT12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KRT12 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KRT12 29 30
  • 99.66 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KRT12 29 30
  • 88.51 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KRT12 29 30
  • 88.51 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Krt12 29 16 30
  • 79.15 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Krt12 29
  • 78.68 (n)
Oppossum
(Monodelphis domestica)
Mammalia KRT12 30
  • 71 (a)
OneToOne
Chicken
(Gallus gallus)
Aves KRT12 29 30
  • 68.93 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KRT12 30
  • 65 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100486967 29
  • 65.3 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC398464 29
Species where no ortholog for KRT12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for KRT12: view image
Alliance of Genome Resources:
Additional Orthologs for KRT12

Paralogs for KRT12 Gene

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

Variants for KRT12 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRT12 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs11650915 Not Provided: not provided 40,867,144(-) G/Ap.Pro15Ser
NM_000223.4(KRT12):c.43C>T (p.Pro15Ser)
MISSENSE
rs139647784 Likely Benign: not provided 40,863,770(-) A/G
NM_000223.4(KRT12):c.902T>C (p.Met301Thr)
MISSENSE
rs150674571 Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100] p.Asp248Asn
rs200190342 Benign: not provided 40,864,865(-) C/G
NM_000223.4(KRT12):c.748G>C (p.Glu250Gln)
MISSENSE
rs200258980 Not Provided: not provided 40,867,132(-) G/A
NM_000223.4(KRT12):c.55C>T (p.Arg19Trp)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KRT12 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)
KRT12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRT12
Leiden Open Variation Database (LOVD)
KRT12

SNP Genotyping and Copy Number Assays for research

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

Disorders for KRT12 Gene

MalaCards: The human disease database

(37) MalaCards diseases for KRT12 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
corneal dystrophy, meesmann, 1
  • mecd1
corneal dystrophy
corneal disease
  • corneal diseases
granular corneal dystrophy
  • granular corneal dystrophies
keratopathy
- elite association - COSMIC cancer census association via MalaCards
Search KRT12 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

K1C12_HUMAN
  • Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100]: A form of Meesmann corneal dystrophy, a corneal disease characterized by fragility of the anterior corneal epithelium. Histological examination shows a disorganized and thickened epithelium with widespread cytoplasmic vacuolation and numerous small, round, debris-laden intraepithelial cysts. 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. MECD1 inheritance is autosomal dominant. {ECO:0000269 PubMed:10612503, 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:26758872, ECO:0000269 PubMed:30535821, ECO:0000269 PubMed:9171831, ECO:0000269 PubMed:9399908}. Note=The disease is caused by variants 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 72
  2. Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene. (PMID: 10644419) Corden LD … McLEAN WH (Experimental eye research 2000) 3 4 22 72
  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
  4. 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
  5. 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

Products for KRT12 Gene

Sources for KRT12 Gene