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KRT2 Gene

protein-coding   GIFtS: 56
GCID: GC12M053038

Keratin 2

(Previous name: keratin 2A (epidermal ichthyosis bullosa of Siemens))
(Previous symbol: KRT2A)
  See KRT2-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)
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Aliases
Keratin 21 2     Epidermal Ichthyosis Bullosa Of Siemens1
KRT2A1 2 3 5     Keratin 2A (Epidermal Ichthyosis Bullosa Of Siemens)1
KRT2E2 3 5     KRTE2
Epithelial Keratin-2e2 3     cytokeratin-2e2
Keratin-2 Epidermis2 3     Keratin, Type II Cytoskeletal 2 Epidermal2
Type-II Keratin Kb22 3     keratin-2e2
CK-2e2 3     Cytokeratin-2e3
K2e2 3     Keratin-2e3

External Ids:    HGNC: 64391   Entrez Gene: 38492   Ensembl: ENSG000001728677   OMIM: 6001945   UniProtKB: P359083   

Export aliases for KRT2 gene to outside databases

Previous GC identifers: GC12M051325 GC12M050082


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for KRT2 Gene:
The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic
or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation
of simple and stratified epithelial tissues. This type II cytokeratin is expressed largely in the upper spinous
layer of epidermal keratinocytes and mutations in this gene have been associated with bullous congenital
ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. (provided
by RefSeq, Jul 2008)

GeneCards Summary for KRT2 Gene:
KRT2 (keratin 2) is a protein-coding gene. Diseases associated with KRT2 include ichthyosis bullosa of siemens, and congenital ichthyosiform erythroderma. GO annotations related to this gene include structural constituent of cytoskeleton. An important paralog of this gene is KRT74.

UniProtKB/Swiss-Prot: K22E_HUMAN, P35908
Function: Probably contributes to terminal cornification. Associated with keratinocyte activation, proliferation
and keratinization

Gene Wiki entry for KRT2 (Keratin 2A) 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)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the KRT2 gene promoter:
         TBP   AML1a   AP-4   POU6F1 (c2)   Tal-1beta   YY1   E47   RORalpha1   ZIC2/Zic2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRT2 promoter sequence
   Search Chromatin IP Primers for KRT2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KRT2


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

Entrez Gene cytogenetic band: 12q13.13   Ensembl cytogenetic band:  12q13.13   HGNC cytogenetic band: 12q13.13

KRT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRT2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M053038:  view genomic region     (about GC identifiers)

Start:
53,038,342 bp from pter      End:
53,045,959 bp from pter
Size:
7,618 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.)
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UniProtKB/Swiss-Prot: K22E_HUMAN, P35908 (See protein sequence)
Recommended Name: Keratin, type II cytoskeletal 2 epidermal  
Size: 639 amino acids; 65433 Da
Subunit: Heterotetramer of two type I and two type II keratins. Associates with KRT10 (By similarity)
Developmental stage: Synthesized during maturation of epidermal keratinocytes and localized in the upper
intermediate cells of fetal skin. Earliest expression is at 10 weeks in the developing embryo in the presumptive
nail bed of developing digits, shifting to the proximal nail fold by 13.5 weeks. At 12.5 weeks, detected in
scattered cells of the intermediate layer of trunk skin. At 19.3 weeks, regional expression patterns were
observed in upper intermediate keratinocytes of cheek, trunk, dorsal and ventral knee, elbow and dorsal hand.
Distal areas around the periumbilical region showed increased number of positive cells and by 15 weeks is
expressed in small groups of cells in the fetal hair follicles
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: Q4VAQ2

Explore the universe of human proteins at neXtProt for KRT2: NX_P35908

Explore proteomics data for KRT2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys188, Lys195, Lys267
  • Modification sites at PhosphoSitePlus

  • See KRT2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000414.2  
    ENSEMBL proteins: 
     ENSP00000310861  

    KRT2 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    IFF2: Intermediate filaments type II, keratins (basic)

    3 InterPro protein domains:
     IPR018039 Intermediate_filament_CS
     IPR001664 IF
     IPR003054 Keratin_II

    Graphical View of Domain Structure for InterPro Entry P35908

    ProtoNet protein and cluster: P35908

    3 Blocks protein domains:
    IPB001664 Intermediate filament protein
    IPB002957 Type I keratin signature
    IPB003054 Type II keratin signature


    UniProtKB/Swiss-Prot: K22E_HUMAN, P35908
    Similarity: Belongs to the intermediate filament family


    Find genes that share domains with KRT2           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.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: K22E_HUMAN, P35908
    Function: Probably contributes to terminal cornification. Associated with keratinocyte activation, proliferation
    and keratinization

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity ----
    GO:0005200structural constituent of cytoskeleton TAS1380918
         
    Find genes that share ontologies with KRT2           About GenesLikeMe


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Krt2):
     craniofacial  hearing/vestibular/ear  integument  limbs/digits/tail  pigmentation 

    Find genes that share phenotypes with KRT2           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for KRT2

    miRNA
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    4 qRT-PCR Assays for microRNAs that regulate KRT2:
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    SwitchGear 3'UTR luciferase reporter plasmidKRT2 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    golgi apparatus4
    cytosol3
    nucleus2

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--
    GO:0005737cytoplasm IDA--
    GO:0005794Golgi apparatus IDA--
    GO:0005882intermediate filament TAS1380918
    GO:0045095keratin filament IEA--

    Find genes that share ontologies with KRT2           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).
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    SuperPaths for KRT2 About    
    See pathways by source

    SuperPathContained pathways About
    1Cytoskeleton remodeling Keratin filaments
    Cytoskeleton remodeling Keratin filaments

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for KRT2
        Cytoskeleton remodeling Keratin filaments



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KRT2
    Interactions:

        Search GeneGlobe Interaction Network for KRT2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for KRT2 (P359082, 3 ENSP000003108614) via UniProtKB, MINT, STRING, and/or I2D (see all 82)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD3P840222, 3, ENSP000003329734MINT-51258 I2D: score=3 STRING: ENSP00000332973
    ENSG00000235068Q018603, ENSP000004050414I2D: score=1 STRING: ENSP00000405041
    ENSG00000206454Q018603I2D: score=1 
    ENSG00000229094Q018603I2D: score=1 
    ENSG00000230336Q018603I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008544epidermis development TAS7524919
    GO:0031424keratinization IDA12598329
    GO:0032980keratinocyte activation IDA12598329
    GO:0043616keratinocyte proliferation IDA12598329
    GO:0051546keratinocyte migration IDA15737202

    Find genes that share ontologies with KRT2           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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for KRT2 (K22E)

    4 Novoseek inferred chemical compound relationships for KRT2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tazarotene 73.2 1 10692107 (1)
    retinoid 39.6 2 10692107 (1), 11558869 (1)
    retinoic acid 32.8 3 10692107 (2), 12890214 (1)
    lysine 21.7 2 9833038 (1), 11531804 (1)



    Find genes that share compounds with KRT2           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 )
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    REFSEQ mRNAs for KRT2 gene: 
    NM_000423.2  

    Unigene Cluster for KRT2:

    Keratin 2
    Hs.707  [show with all ESTs]
    Unigene Representative Sequence: NM_000423
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000309680(uc001sat.3) ENST00000547106
    miRNA
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    4 qRT-PCR Assays for microRNAs that regulate KRT2:
    hsa-miR-140-3p hsa-miR-875-3p hsa-miR-516b hsa-miR-518a-5p
    SwitchGear 3'UTR luciferase reporter plasmidKRT2 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat KRT2

    Additional mRNA sequence: 

    BC096294.4 BC099643.1 BC099644.3 M99061.1 

    5 DOTS entries:

    DT.91750995  DT.121118656  DT.121118596  DT.121119160  DT.100044463 

    2 AceView cDNA sequences:

    M99061 NM_000423 

    GeneLoc Exon Structure


    (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)
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    KRT2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTCTTTGCA
    KRT2 Expression
    About this image


    KRT2 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
     
     Epidermis (Integumentary System)    fully expand to see all 3 entries
             Spinous Keratinocytes Stratified Epidermis
             Full-thickness skin substitutes
     
     Epithelial Cells
             Spinous Keratinocytes Stratified Epidermis
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Foregut
     
     Eye (Sensory Organs)
             Retina
    KRT2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KRT2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.707

    UniProtKB/Swiss-Prot: K22E_HUMAN, P35908
    Tissue specificity: Expressed in the upper spinous and granular suprabasal layers of normal adult epidermal
    tissues from most body sites including thigh, breast nipple, foot sole, penile shaft and axilla. Not present in
    foreskin, squamous metaplasias and carcinomas. Expression in hypertrophic and keloid scars begins in the deepest
    suprabasal layer. Weakly expressed in normal gingiva and tongue, however expression is induced in benign
    keratoses of lingual mucosa and in mild-to-moderate oral dysplasia with orthokeratinization

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    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for KRT2 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Krt25 keratin 2   --   15 (57.03 cM) 101810689 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    52(a)
    many ↔ many
    2(95490801-95512216)


    ENSEMBL Gene Tree for KRT2 (if available)
    TreeFam Gene Tree for KRT2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KRT2 gene
    KRT742  KRT772  KRT6B2  KRT832  KRT762  KRT32  KRT842  KRT862  
    KRT82  KRT812  KRT712  KRT72  KRT792  KRT722  KRT732  KRT6C2  
    KRT52  KRT6A2  KRT852  KRT752  KRT12  KRT822  KRT42  
    Selected SIMAP similar genes for KRT2 using alignment to 1 protein entry:     K22E_HUMAN(see all similar genes):
    KRT1B    KRTHB6    KRT79    KRT7    KRT1    KRT6A
    KRT6B    KRT6C    KRT8    KRT5    KRT76    KRT72
    KRT78    KRT77    KRT3    KRT4    KRT75    KRT73

    Find genes that share paralogs with KRT2           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)
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    Selected SNPs for KRT2 (see all 369)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs568290621,2,,4
    CIchthyosis bullosa of Siemens (IBS)4 pathogenic152874989(-) ATGTGA/GAGATC 2 K E mis10--------
    VAR_0038654
    Ichthyosis bullosa of Siemens (IBS)4--see VAR_0038652 Q P mis40--------
    VAR_0310834
    Ichthyosis bullosa of Siemens (IBS)4--see VAR_0310832 E K mis40--------
    rs617264571,2,4
    Ichthyosis bullosa of Siemens (IBS)4--see VAR_0178292 mis40--------
    rs617264501,2,4
    Ichthyosis bullosa of Siemens (IBS)4--see VAR_0038662 mis40--------
    rs617264531,2,4
    Ichthyosis bullosa of Siemens (IBS)4--see VAR_0091872 mis40--------
    VAR_0310824
    Ichthyosis bullosa of Siemens (IBS)4--see VAR_0310822 E D mis40--------
    VAR_0105154
    Ichthyosis bullosa of Siemens (IBS)4--see VAR_0105152 N D mis40--------
    rs617264491,2,4
    Ichthyosis bullosa of Siemens (IBS)4--see VAR_0038672 mis40--------
    rs617264541,2,4
    Ichthyosis bullosa of Siemens (IBS)4--see VAR_0091852 mis40--------

    HapMap Linkage Disequilibrium report for KRT2 (53038342 - 53045959 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for KRT2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv832415CNV Loss17160897
    nsv428281CNV Gain18775914

    Human Gene Mutation Database (HGMD): KRT2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KRT2
    DNA2.0 Custom Variant and Variant Library Synthesis for KRT2

    (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.)
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    OMIM gene information: 600194   
    OMIM disorders: 146800  
    UniProtKB/Swiss-Prot: K22E_HUMAN, P35908
  • Ichthyosis bullosa of Siemens (IBS) [MIM:146800]: A rare autosomal dominant skin disorder displaying a
    type of epidermolytic hyperkeratosis characterized by generalized erythema and extensive blistering from birth.
    Large, dark gray hyperkeratoses are observed in later weeks. The skin of IBS patients is unusually fragile and
    has a tendency to shed the outer layers of the epidermis, producing localized denuded areas (molting effect). IBS
    usually improves with age so that in most middle-aged patients the hyperkeratosis and keratotic lichenification
    is limited to the flexural folds of the major joints. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 7 diseases for KRT2:    
    About MalaCards
    ichthyosis bullosa of siemens    congenital ichthyosiform erythroderma    epidermolytic hyperkeratosis    hereditary mucosal leukokeratosis
    keloids    pachyonychia congenita    monilethrix

    5 diseases from the University of Copenhagen DISEASES database for KRT2:
    Epidermolytic hyperkeratosis     Hereditary mucosal leukokeratosis     Monilethrix     Epidermolysis bullosa simplex
    Pachyonychia congenita

    Find genes that share disorders with KRT2           About GenesLikeMe

    1 Novoseek inferred disease relationship for KRT2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ichthyosis 92 6 9804344 (3), 9833038 (2), 8077693 (1)

    Genetic Association Database (GAD): KRT2

    Export disorders for KRT2 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)
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    PubMed articles for KRT2 gene, integrated from 10 sources (see all 60):
    (articles sorted by number of sources associating them with KRT2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens. (PubMed id 7524919)1, 2, 3, 9 Rothnagel J.A.... Roop D.R. (Nat. Genet. 1994)
    2. Ontogeny and regional variability of keratin 2e (K2e) in developing human fetal skin: a unique spatial and temporal pattern of keratin expression in development. (PubMed id 10233306)1, 2, 9 Smith L.T.... McLean W.H.I. (Br. J. Dermatol. 1999)
    3. Expression of keratin K2e in cutaneous and oral lesions: association with keratinocyte activation, proliferation, and keratinization. (PubMed id 12598329)1, 2, 9 Bloor B.K.... Waseem A. (Am. J. Pathol. 2003)
    4. A glutamate to lysine mutation at the end of 2B rod domain of keratin 2e gene in ichthyosis bullosa of Siemens. (PubMed id 9833038)1, 2, 9 Yang J.-M.... Lee E.-S. (Acta Derm. Venereol. 1998)
    5. Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens. (PubMed id 9804344)1, 2, 9 Smith F.J.D.... McLean W.H.I. (J. Invest. Dermatol. 1998)
    6. Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing. (PubMed id 15949009)1, 2, 9 Akiyama M.... Shimizu H. (Br. J. Dermatol. 2005)
    7. Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens. (PubMed id 10688369)1, 2, 9 Suga Y.... Roop D.R. (Exp. Dermatol. 2000)
    8. A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens. (PubMed id 11167982)1, 2, 9 Irvine A.D.... McLean W.H.I. (Clin. Exp. Dermatol. 2000)
    9. A new keratin 2e mutation in ichthyosis bullosa of Siemens. (PubMed id 9036938)1, 2, 9 Jones D.O.... Bowden P.E. (J. Invest. Dermatol. 1997)
    10. New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens. (PubMed id 11531804)1, 2, 9 Whittock N.V....McGrath J.A. (Br. J. Dermatol. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3849 HGNC: 6439 AceView: KRT2A Ensembl:ENSG00000172867 euGenes: HUgn3849
    ECgene: KRT2 H-InvDB: KRT2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for KRT2 Pharmacogenomics, SNPs, Pathways
    Human Intermediate Filament Mutation Databasehttp://www.interfil.org
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=KRT2[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Keratin_2A

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KRT2 gene:
    Search GeneIP for patents involving KRT2

    GeneCards and IP:
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