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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KRT12 Gene

protein-coding   GIFtS: 52
GCID: GC17M039017

Keratin 12

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Keratin 121 2     Keratin, Type I Cytoskeletal 122
CK-122 3     keratin-122
K122 3     Cytokeratin-123
Meesmann Corneal Dystrophy1     Keratin-123
cytokeratin-122     

External Ids:    HGNC: 64141   Entrez Gene: 38592   Ensembl: ENSG000001872427   OMIM: 6016875   UniProtKB: Q994563   

Export aliases for KRT12 gene to outside databases

Previous GC identifers: GC17M038517 GC17M041194 GC17M038764 GC17M039390 GC17M036271 GC17M034811


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 meesmann corneal dystrophy, and recurrent corneal erosion. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is KRT34.

UniProtKB/Swiss-Prot: K1C12_HUMAN, Q99456
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 Wiki entry for KRT12 (Keratin 12) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.2  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KRT12 gene promoter:
         CUTL1   NF-AT   AREB6   NF-AT4   NF-AT2   COMP1   FOXO4   NF-AT3   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRT12 promoter sequence
   Search SABiosciences Chromatin IP Primers for KRT12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRT12


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q12   Ensembl cytogenetic band:  17q21.2   HGNC cytogenetic band: 17q21.2

KRT12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRT12 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M039017:  view genomic region     (about GC identifiers)

Start:
39,017,430 bp from pter      End:
39,023,462 bp from pter
Size:
6,033 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: K1C12_HUMAN, Q99456 (See protein sequence)
Recommended Name: Keratin, type I cytoskeletal 12  
Size: 494 amino acids; 53511 Da
Subunit: 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)
Secondary accessions: B2R9E0

Explore the universe of human proteins at neXtProt for KRT12: NX_Q99456

Explore proteomics data for KRT12 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q99456

  • KRT12 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KRT12 Protein Expression
    REFSEQ proteins: NP_000214.1  
    ENSEMBL proteins: 
     ENSP00000251643  

    Human Recombinant Protein Products for KRT12: 
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    Novus Biologicals KRT12 Protein
    Novus Biologicals KRT12 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for KRT12 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005882intermediate filament IEA--

    KRT12 for ontologies           About GeneDecksing



    KRT12 Antibody Products: 
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    Assay Products for KRT12: 
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    Cloud-Clone Corp. ELISAs for KRT12 
    Cloud-Clone Corp. CLIAs for KRT12


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    IFF1: Intermediate filaments type I, keratins (acidic)

    4 InterPro protein domains:
     IPR018039 Intermediate_filament_CS
     IPR001664 IF
     IPR016044 F
     IPR002957 Keratin_I

    Graphical View of Domain Structure for InterPro Entry Q99456

    ProtoNet protein and cluster: Q99456

    2 Blocks protein domains:
    IPB001664 Intermediate filament protein
    IPB002957 Type I keratin signature


    UniProtKB/Swiss-Prot: K1C12_HUMAN, Q99456
    Similarity: Belongs to the intermediate filament family


    KRT12 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: K1C12_HUMAN, Q99456
    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)

         Genatlas biochemistry entry for KRT12:
    keratine 12,type I,acidic,expressed during corneal differentiation

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity IEA--
         
    KRT12 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Krt12):
     no phenotypic analysis  normal  vision/eye 

    KRT12 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Krt12tm1Wwk for KRT12

       inGenious Targeting Laboratory - Custom generated mouse model solutions for KRT12 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for KRT12

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KRT12 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KRT12 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KRT12
    1 QIAGEN miScript miRNA Assays for microRNA that regulate KRT12:
    hsa-miR-513a-3p
    SwitchGear 3'UTR luciferase reporter plasmidKRT12 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Clone
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    OriGene ORF clones in mouse, rat for KRT12
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT12


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KRT12

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for KRT12 (Q994563 ENSP000002516434) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UCHL5Q9Y5K53, ENSP000003564254I2D: score=1 STRING: ENSP00000356425
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007601visual perception TAS9171831
    GO:0060429epithelium development IEA--
    GO:0061303cornea development in camera-type eye IEA--

    KRT12 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    KRT12 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KRT12 (K1C12)

    1 DrugBank Compound for KRT12    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    GriseofulvinGriseofulvina [INN-Spanish] (see all 3)126-07-8targetother/unknown12388748 14693542

    2 Novoseek inferred chemical compound relationships for KRT12 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    proline 35.3 3 10781519 (1), 19272163 (1)
    arginine 19.5 1 18661274 (1)

    Search CenterWatch for drugs/clinical trials and news about KRT12 / K1C12

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KRT12 gene: 
    NM_000223.3  

    Unigene Cluster for KRT12:

    Keratin 12
    Hs.66739  [show with all ESTs]
    Unigene Representative Sequence: NM_000223
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000251643(uc002hvk.2)
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KRT12
    1 QIAGEN miScript miRNA Assays for microRNA that regulate KRT12:
    hsa-miR-513a-3p
    SwitchGear 3'UTR luciferase reporter plasmidKRT12 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for KRT12
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KRT12
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    OriGene ORF clones in mouse, rat for KRT12
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    GenScript: all cDNA clones in your preferred vector: KRT12 (NM_000223)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KRT12
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRT12
    Sirion Biotech Customized lentivirus for stable overexpression of KRT12 
                         Customized lentivirus expression plasmids for stable overexpression of KRT12 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KRT12
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KRT12

    Additional mRNA sequence: 

    AK313747.1 D78367.1 

    4 DOTS entries:

    DT.97843538  DT.120986537  DT.120986539  DT.120986557 

    24/283 AceView cDNA sequences (see all 283):

    CB112065 BM673258 NM_000421 CB111988 CB112025 BG680518 BM673449 CB112014 
    NM_000223 W60963 CD679090 CF529570 W63733 CB112040 CB111979 CB112029 
    CB111992 BM678094 BQ267479 BM689304 CB112066 CB112021 BU727205 CB112060 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for KRT12    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10
    SP1:                    -           -                                                   
    SP2:                                -                                                   
    SP3:                    -           -                                                   
    SP4:                                                                                    


    ECgene alternative splicing isoforms for KRT12

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KRT12 expression in normal human tissues (normalized intensities)      KRT12 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KRT12 Expression
    About this image


    KRT12 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             Limbal corneal epithelial stem cells

    See KRT12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KRT12

    SOURCE GeneReport for Unigene cluster: Hs.66739

    UniProtKB/Swiss-Prot: K1C12_HUMAN, Q99456
    Tissue specificity: Cornea specific

        SABiosciences Custom PCR Arrays for KRT12
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT12

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for KRT12 gene from 5/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Krt121 , 5 keratin 121, 5 80.27(n)1
    80(a)1
      11 (62.92 cM)5
    2684821  NM_010661.21  NP_034791.21 
     994156665 
    chicken
    (Gallus gallus)
    Aves KRT121 keratin 12 (Meesmann corneal dystrophy) 68.53(n)
    70.87(a)
      428314  XM_425874.3  XP_425874.2 
    lizard
    (Anolis carolinensis)
    Reptilia KRT126
    keratin 12
    64(a)
    1 ↔ 1
    6(70460684-70467025)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3984642 hypothetical protein LOC398464 73.8(n)    BC043901.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570834442   -- 74.98(n)    57083444 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KRT12 gene
    KRT342  KRT172  KRT162  KRT312  KRT252  KRT392  KRT402  KRT372  
    KRT272  KRT322  KRT382  KRT362  KRT192  KRT282  KRT142  KRT132  
    KRT262  KRT102  KRT352  KRT152  KRT242  KRT92  KRT33B2  KRT33A2  
    18/43 SIMAP similar genes for KRT12 using alignment to 1 protein entry:     K1C12_HUMAN(see all similar genes):
    KRT19    KRT15    KRT16    JUP    KRT10    KRT27
    KRT13    KRT31    KRT33A    keratin    KRT24    KRT28
    KRT32    KRT33B    KRT34    KRT14    KRT35    KRT9

    KRT12 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/271 SNPs in KRT12 are shown (see all 271)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0085254
    Corneal dystrophy, Meesmann (MECD)4--see VAR_0085252 R I mis40--------
    rs581623941,2,4
    CCorneal dystrophy, Meesmann (MECD)4 pathogenic139806317(-) AGACCG/TACCGC 2 D Y mis10--------
    rs583436001,2,4
    CCorneal dystrophy, Meesmann (MECD)4 pathogenic139809924(-) ATAAGC/G/TTGCGA 3 L V mis10--------
    rs589186551,2,4
    CCorneal dystrophy, Meesmann (MECD)4 pathogenic139809932(-) CTACCG/TGGATA 2 R L mis10--------
    rs572183841,2,4
    CCorneal dystrophy, Meesmann (MECD)4 pathogenic139809947(-) TGATAC/G/TATTAG 3 T R I mis10--------
    rs584104811,2,4
    CCorneal dystrophy, Meesmann (MECD)4 pathogenic139809948(-) ATGATA/GGATTA 2 R G mis10--------
    rs289366951,2,4
    CCorneal dystrophy, Meesmann (MECD)4 pathogenic139809965(-) AACTAC/TGCAAA 2 T M mis10--------
    rs620659251,2
    C,Funtested139804464(+) CACATG/TATTAC 1 -- ut311Minor allele frequency- T:0.50NA 2
    rs2002589801,2
    Cuntested139810296(+) CCGCCA/C/GGGACA 2 R W mis10--------
    rs116509151,2,4
    C,F,Huntested139810308(+) TCCGGG/AGGTGC 2 /P /S mis1 ese326Minor allele frequency- A:0.28NS EA NA WA EU 8385

    HapMap Linkage Disequilibrium report for KRT12 (39017430 - 39023462 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for KRT12: --

    Human Gene Mutation Database (HGMD): KRT12
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing KRT12
    DNA2.0 Custom Variant and Variant Library Synthesis for KRT12

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601687   
    OMIM disorders: 122100  
    UniProtKB/Swiss-Prot: K1C12_HUMAN, Q99456
  • 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.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 12 diseases for KRT12:    About MalaCards
    meesmann corneal dystrophy    recurrent corneal erosion    corneal disease    astigmatism
    autosomal dominant disease    corneal dystrophy    aniridia    t cell deficiency
    keratopathy    keratoconus    keratosis    hepatocellular carcinoma

    3 diseases from the University of Copenhagen DISEASES database for KRT12:
    Corneal dystrophy     Recurrent corneal erosion     Keratoconus

    KRT12 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for KRT12 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    corneal dystrophy 91.1 24 18201524 (4), 10612503 (2), 10644419 (2), 9171831 (2) (see all 12)
    corneal diseases 72.6 2 12700042 (1), 16083875 (1)
    amyloid deposition 41.3 1 12700042 (1)


    Export disorders for KRT12 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for KRT12 gene, integrated from 9 sources (see all 69):
    (articles sorted by number of sources associating them with KRT12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. (PubMed id 9171831)1, 2, 3, 9 Irvine A.D.... McLean W.H.I. (1997)
    2. Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene. (PubMed id 10644419)1, 2, 9 Corden L.D.... McLean W.H.I. (2000)
    3. Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene. (PubMed id 16352477)1, 2, 9 Nichini O.... Schorderet D.F. (2005)
    4. Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy. (PubMed id 9399908)1, 2, 9 Nishida K....Kinoshita S. (1997)
    5. Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy. (PubMed id 16227835)1, 2, 9 Chen Y.T.... Chao S.C. (2005)
    6. A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy. (PubMed id 10781519)1, 2, 9 Corden L.D.... McLean W.H.I. (2000)
    7. A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy. (PubMed id 15148206)1, 2, 9 Yoon M.K.... Margolis T.P. (2004)
    8. A gene expression profile of human corneal epithelium and the isolation of human keratin 12 cDNA. (PubMed id 8759347)1, 2, 9 Nishida K.... Okubo K. (1996)
    9. New consensus nomenclature for mammalian keratins. (PubMed id 16831889)1, 3 Schweizer J....Wright M.W. (2006)
    10. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3859 HGNC: 6414 AceView: KRT12andKRT10 Ensembl:ENSG00000187242 euGenes: HUgn3859
    ECgene: KRT12 H-InvDB: KRT12

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KRT12 Pharmacogenomics, SNPs, Pathways
    Human Intermediate Filament Mutation Databasehttp://www.interfil.org
    Wikipedia http://en.wikipedia.org/wiki/Keratin_12

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KRT12 gene:
    Search GeneIP for patents involving KRT12

    GeneCards and IP:
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