Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



KRT12 Gene

protein-coding   GIFtS: 51
GCID: GC17M039017

Keratin 12

  See KRT12-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

TryGeneCards Plus

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

TryGeneCards Plus

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 recurrent corneal erosion, and meesmann corneal dystrophy. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NC_018928.2  NT_010783.16  
Regulatory elements:
   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 Chromatin IP Primers for KRT12

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

TryGeneCards Plus

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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KRT12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000214.1  
    ENSEMBL proteins: 
     ENSP00000251643  

    KRT12 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for KRT12
    OriGene Protein Over-expression Lysate for KRT12
    OriGene MassSpec for KRT12
    OriGene Custom Protein Services for KRT12
    GenScript Custom Purified and Recombinant Proteins Services for KRT12
    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

     
    Search eBioscience for Proteins for KRT12 

     
    antibodies-online proteins for KRT12 (6 products) 

     
    antibodies-online peptides for KRT12

    KRT12 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for KRT12
    OriGene Custom Antibody Services for KRT12
    Novus Biologicals KRT12 Antibodies
    Abcam antibodies for KRT12
    Cloud-Clone Corp. Antibodies for KRT12
    Search ThermoFisher Antibodies for KRT12
    antibodies-online antibodies for KRT12 (31 products) 

    KRT12 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for KRT12
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for KRT12
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for KRT12
    Cloud-Clone Corp. CLIAs for KRT12
    Search eBioscience for ELISAs for KRT12 
    antibodies-online kits for KRT12 (9 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    IFF1: Intermediate filaments type I, keratins (acidic)

    3 InterPro protein domains:
     IPR018039 Intermediate_filament_CS
     IPR001664 IF
     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


    Find genes that share domains with KRT12           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity IEA--
         
    Find genes that share ontologies with KRT12           About GenesLikeMe


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

    Find genes that share phenotypes with KRT12           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Krt12tm1Wwk for KRT12

       genOway: Develop your customized and physiologically relevant rodent model for KRT12

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat KRT12 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate KRT12:
    hsa-miR-513a-3p
    SwitchGear 3'UTR luciferase reporter plasmidKRT12 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for KRT12
    Predesigned siRNA for gene silencing in human, mouse, rat KRT12

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for KRT12

    Clone
    Products:
         
    OriGene clones in human, mouse for KRT12 (see all 6)
    OriGene ORF clones in mouse, rat for KRT12
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: KRT12 (NM_000223)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KRT12
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRT12

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for KRT12
    Browse ESI BIO Cell Lines and PureStem Progenitors for KRT12 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT12


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton3
    cytosol3
    nucleus3
    extracellular2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005882intermediate filament IEA--
    GO:0070062extracellular vesicular exosome IDA19199708

    Find genes that share ontologies with KRT12           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KRT12
    Interactions:

        Search GeneGlobe Interaction Network 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:    About this table

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

    Find genes that share ontologies with KRT12           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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

    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)



    Find genes that share compounds with KRT12           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    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:
         
    Block miRNA regulation of human, mouse, rat KRT12 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate KRT12:
    hsa-miR-513a-3p
    SwitchGear 3'UTR luciferase reporter plasmidKRT12 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for KRT12
    Predesigned siRNA for gene silencing in human, mouse, rat KRT12
    Clone
    Products:
         
    OriGene clones in human, mouse for KRT12 (see all 6)
    OriGene ORF clones in mouse, rat for KRT12
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    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
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for KRT12
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat KRT12
      QuantiTect SYBR Green Assays in human, mouse, rat KRT12
      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 

    Selected AceView cDNA sequences (see all 283):

    BG680753 AA722437 CB112064 BM689304 CD677728 AV659251 CB112056 BU728001 
    BM707400 CB112043 CB112067 CB112065 CB112066 BQ267479 AW088028 CB112029 
    T94301 CB111988 CB112018 BU727205 CB112014 CF529570 CR625014 CB111984 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    KRT12 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 4) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 14 entries
             Fetal Corneal Superficial Epithelial Cells Corneal Epithelium
             Limbal epithelial stem cells (family)
     
     Epithelial Cells
             Fetal Corneal Superficial Epithelial Cells Corneal Epithelium
     
     Epidermis (Integumentary System)
             Purified keratinocyte-like cells
     
     Testis (Reproductive System)
             Sertoli cells Seminiferous Tubules
    KRT12 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KRT12 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.66739

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

        Custom PCR Arrays for KRT12
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for KRT12
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat KRT12
    QuantiTect SYBR Green Assays in human, mouse, rat KRT12
    QuantiFast Probe-based Assays in human, mouse, rat KRT12
    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

    TryGeneCards Plus

    This gene was present in the common ancestor of chordates.

    Orthologs for KRT12 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Krt121 , 5 keratin 121, 5 79.15(n)1
    79.01(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) 68.93(n)
    70.64(a)
      428314  XM_004948606.1  XP_004948663.1 
    lizard
    (Anolis carolinensis)
    Reptilia KRT126
    keratin 12
    65(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

    TryGeneCards Plus
    Paralogs for KRT12 gene
    KRT342  KRT172  KRT162  KRT312  KRT252  KRT392  KRT402  KRT202  
    KRT372  KRT272  KRT322  KRT382  KRT362  KRT192  KRT282  KRT142  
    KRT132  KRT262  KRT102  KRT352  KRT152  KRT242  KRT92  KRT33B2  
    KRT33A2  
    Selected 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

    Find genes that share paralogs with KRT12           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for KRT12 (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
    ----------
    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--------
    VAR_0085254
    Corneal dystrophy, Meesmann (MECD)4--see VAR_0085252 R I mis40--------
    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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    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

  • 6 diseases for KRT12:    
    About MalaCards
    recurrent corneal erosion    meesmann corneal dystrophy    corneal disease    limbal stem cell deficiency
    corneal dystrophy    aniridia

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

    Find genes that share disorders with KRT12           About GenesLikeMe

    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

    TryGeneCards Plus

    PubMed articles for KRT12 gene, integrated from 10 sources (see all 72):
    (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. (Nat. Genet. 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. (Exp. Eye Res. 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. (Ophthalmic Genet. 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. (Am. J. Hum. Genet. 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. (Cornea 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. (Br. J. Ophthalmol. 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. (Br. J. Ophthalmol. 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. (Invest. Ophthalmol. Vis. Sci. 1996)
    9. New consensus nomenclature for mammalian keratins. (PubMed id 16831889)1, 3 Schweizer J....Wright M.W. (J. Cell Biol. 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. (Nat. Biotechnol. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 3859 HGNC: 6414 AceView: KRT12andKRT10 Ensembl:ENSG00000187242 euGenes: HUgn3859
    ECgene: KRT12 H-InvDB: KRT12

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    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

    TryGeneCards Plus
    Patent Information for KRT12 gene:
    Search GeneIP for patents involving KRT12

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for KRT12   OriGene RNAi products in human, mouse, rat for KRT12  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for KRT12  
     OriGene MassSpec for KRT12   OriGene clones in human, mouse for KRT12  
     OriGene qSTAR qPCR primer pairs in human, mouse for KRT12   OriGene Purified Protein for KRT12  
     OriGene ORF clones in mouse, rat for KRT12   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for KRT12   OriGene Custom Protein Services for KRT12  

     
     
     Block miRNA regulation of human, mouse, rat KRT12 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing KRT12
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KRT12 Predesigned siRNA for gene silencing in human, mouse, rat KRT12
     QuantiFast Probe-based Assays in human, mouse, rat KRT12 QuantiTect SYBR Green Assays in human, mouse, rat KRT12
     Custom PCR Arrays for KRT12 Search Chromatin IP Primers for KRT12
     Pre-validated RT2 qPCR Primer Assay in human, mouse / rat KRT12  Search GeneGlobe Interaction Network for KRT12
     Regulatory tfbs in KRT12 promoter
     GenScript Custom Purified and Recombinant Proteins Services for KRT12 GenScript cDNA clones with any tag delivered in your preferred vector for KRT12
     GenScript Custom Assay Services for KRT12 GenScript Custom overexpressing Cell Line Services for KRT12
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for KRT12 (K1C12)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     KRT12 antibodies
     KRT12 proteins
     KRT12 lysates
     Antibodies for KRT12
     See all of Abcam's Antibodies, Kits and Proteins for KRT12
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for KRT12
     Antibodies for KRT12
     ELISAs for KRT12
     CLIAs for KRT12



     Browse ESI BIO Cell Lines and PureStem Progenitors for KRT12
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT12
     SwitchGear 3'UTR luciferase reporter plasmids for KRT12
     SwitchGear Promoter luciferase reporter plasmids for KRT12
     Search ThermoFisher Antibodies for KRT12
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRT12
     Browse compounds at ApexBio
     Search Addgene for plasmids for KRT12
      Search eBioscience for proteins for KRT12
      Search eBioscience for elisas for KRT12
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for KRT12
     antibodies-online antibodies for KRT12 (31 products)
     antibodies-online kits for KRT12 (9 products)
     antibodies-online peptides for KRT12
     antibodies-online proteins for KRT12 (6 products)
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      KRT12 gene at Home site.
    Version: 3.12.258 10 Dec 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4