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

KRT72 Gene

protein-coding   GIFtS: 46
GCID: GC12M052979

keratin 72

 Explore 4 diseases affiliated with
KRT72 via our new
 Human Malady Compendium 
Biological research products
for KRT72
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Keratin 721 2     Cytokeratin-723
K6IRS21 2 3 5     Keratin 6, Inner Root Sheath, 22
KRT6IRS21 2 3 5     Keratin Protein K6irs2
KRT61 2 3     Keratin, Type II Cytoskeletal 722
K6irs1 2     Keratin-723
Type II Inner Root Sheath-Specific Keratin-K6irs22 3     Cytokeratin-723
Type-II Keratin Kb352 3     KB353
CK-722 3     Keratin-723
K722 3     

External Ids:    HGNC: 289321   Entrez Gene: 1408072   Ensembl: ENSG000001704867   OMIM: 6082465   UniProtKB: Q14CN43   

Export aliases for KRT72 gene to outside databases

Previous GC identifers: GC12M051266 GC12M050023


(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 KRT72:
Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells. The type II
keratins 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 gene encodes a type II keratin that is
specifically expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of
chromosome 12q12-q13. Multiple transcript variants encoding different isoforms have been found for this gene.(provided
by RefSeq, Jun 2009)

UniProtKB/Swiss-Prot: K2C72_HUMAN, Q14CN4
Function: Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath
(IRS) of the hair follicle (Probable)




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KRT72 gene promoter:
         Oct-B1   NF-1   AML1a   Nkx2-5   C/EBPalpha   GATA-1   PPAR-alpha   CHOP-10   HSF2   ZID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRT72 promoter sequence
   Search SABiosciences Chromatin IP Primers for KRT72

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRT72


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

KRT72 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRT72 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M052979:  view genomic region     (about GC identifiers)

Start:
52,979,373 bp from pter      End:
52,995,322 bp from pter
Size:
15,950 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: K2C72_HUMAN, Q14CN4 (See protein sequence)
Recommended Name: Keratin, type II cytoskeletal 72  
Size: 511 amino acids; 55877 Da
Subunit: Heterotetramer of two type I and two type II keratins
Miscellaneous: There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic)
(40-55 and 56-70 kDa, respectively)
Caution: Was initially thought to be the ortholog of mouse KRT71 (PubMed:11703281)
Sequence caution: Sequence=BAC04039.1; Type=Erroneous initiation;
Secondary accessions: B4DEI8 H9KV51 Q8NA87 Q8WWY9 Q8WWZ0
Alternative splicing: 3 isoforms:  Q14CN4-1   Q14CN4-2   Q14CN4-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KRT72: NX_Q14CN4

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q14CN4

  • KRT72 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001139697.1  NP_001139698.1  NP_542785.1  

    ENSEMBL proteins: 
     ENSP00000441160   ENSP00000346269   ENSP00000446881   ENSP00000449324   ENSP00000293745  
     ENSP00000446151  

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    Uscn Proteins for KRT72

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0045095keratin filament IEA--


    KRT72 for ontologies           About GeneDecksing



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

    KRT72 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR018039 Intermediate_filament_CS
     IPR001664 IF
     IPR016044 F
     IPR003054 Keratin_II

    Graphical View of Domain Structure for InterPro Entry Q14CN4

    ProtoNet protein and cluster: Q14CN4

    2 Blocks protein families:
    IPB001664 Intermediate filament protein
    IPB003054 Type II keratin signature


    UniProtKB/Swiss-Prot: K2C72_HUMAN, Q14CN4
    Similarity: Belongs to the intermediate filament family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: K2C72_HUMAN, Q14CN4
    Function: Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath
    (IRS) of the hair follicle (Probable)

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    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--


    KRT72 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for KRT72:
     Synthetic lethal with Ras 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KRT72

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5 Interacting proteins for KRT72 (Q14CN43 ENSP000002937454) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KRT17Q046953, ENSP000003084524I2D: score=1 STRING: ENSP00000308452
    KRT18P057833, ENSP000003734874I2D: score=1 STRING: ENSP00000373487
    TFP027873, ENSP000002649984I2D: score=1 STRING: ENSP00000264998
    UBA5Q9GZZ93I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KRT72
    Search CenterWatch for drugs/clinical trials and news about KRT72 / K2C72 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KRT72 gene (3 alternative transcripts): 
    NM_001146225.1  NM_001146226.1  NM_080747.2  

    Unigene Cluster for KRT72:

    Keratin 72
    Hs.662013  [show with all ESTs]
    Unigene Representative Sequence: NM_080747
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000537672 ENST00000354310 ENST00000550829 ENST00000549979 ENST00000293745(uc001sar.2 uc001saq.2 uc010sns.1)
    ENST00000398066(uc010snt.1)

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    Additional cDNA sequence: 

    AK093060.1 AK293645.1 AK302016.1 AY033495.1 BC113686.1 

    3 DOTS entries:

    DT.75142748  DT.100010973  DT.121117938 

    4 AceView cDNA sequences:

    NM_080747 AY033495 AX747893 AK093060 

    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™, 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

    KRT72 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCTTTCTTGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See KRT72 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KRT72

    SOURCE GeneReport for Unigene cluster: Hs.662013

    UniProtKB/Swiss-Prot: K2C72_HUMAN, Q14CN4
    Tissue specificity: Highly expressed in hair follicles from scalp and eyebrow. Also expressed in palmoplantar
    epidermis. Not expressed in face skin despite the presence of fine hairs histologically. In hair, it is specifically
    present in the inner root sheath (IRS) of the hair follicle. Present in the IRS cuticle, but not in Henle or Huxley
    layers of the IRS. In the IRS cuticle, its presence is delayed up to the height of the apex of the dermal papilla (at
    protein level)

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT72

    (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 animals.

    Orthologs for KRT72 gene from 4/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves Q6PVZ5_CHICK6
    KRT86
    --
    49(a)
    40(a)
    possible ortholog
    possible ortholog
    E22C19W28_E50C23(642021-648330)
    E22C19W28_E50C23(508667-511528)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    --

    45(a)
    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    AAWZ02039762(4434-6932)
    2(95689880-95702695)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1369306
    wu:fb15e046
    (see all 3)
    wu:fb15e04
    (see all 3)
    21(a)
    17(a)
    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    2(32498013-32508762)
    21(24464941-24474821)
    worm
    (Caenorhabditis elegans)
    Secernentea ifp-16
    ifc-26
    (see all 12)
    Intermediate filament protein ifc-2
    (see all 12)
    8(a)
    5(a)
    (see all 12)
    possible ortholog
    possible ortholog
    (see all 12)
    X(9675786-9680111)
    X(642160-654902)


    ENSEMBL Gene Tree for KRT72 (if available)
    TreeFam Gene Tree for KRT72 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KRT72 gene
    KRT742  KRT772  KRT6B2  KRT832  KRT762  KRT862  KRT32  KRT842  
    KRT82  KRT812  KRT712  KRT8P112  KRT782  KRT72  ENSG000001704422  KRT792  
    KRT732  KRT52  KRT6C2  KRT6A2  KRT852  KRT22  KRT752  KRT12  
    KRT822  KRT42  
    18/41 SIMAP similar genes for KRT72 using alignment to 4 protein entries:     K2C72_HUMAN (see all proteins) (see all similar genes):
    KRT7    KRT71    KRTHB6    KRT79    KRT5    KRT121P
    KRT3    KRT6A    KRT6B    KRT6C    KRT4    KRT74
    KRT75    KRT8    KRT76    KRT78    KRT1    KRT1B

    KRT72 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/446 NCBI SNPs in KRT72 are shown (see all 446    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1132964221,2
    C,--50022893(+) AGACAG/ATGAGT 3 -- ds50012Minor allele frequency- A:0.08WA 120
    rs587793021,2
    C,F,--50023159(+) CAGATG/AAAGAA 3 -- ds50014Minor allele frequency- A:0.09WA CSA EA 242
    rs571683041,2
    C,--50024690(+) TGAATA/GAGCCT 3 -- int12Minor allele frequency- G:0.10WA 120
    rs73096021,2
    C,F,A,H,--50024995(+) CTCCCC/GCCACC 3 -- int1 trp36Minor allele frequency- G:0.08NA WA CSA EA 248
    rs1122344801,2
    --50025963(+) AGTTTA/GGTCCC 3 -- int12Minor allele frequency- G:0.33CSA 3
    rs6770891,2
    --50026049(-) catgcG/Agtgtt 3 -- int13Minor allele frequency- A:0.03NA 124
    rs570369281,2
    C,--50026362(+) CAGTGG/ACTCAT 3 -- int11Minor allele frequency- A:0.50WA 2
    rs6812931,2
    C,F,A,H,--50027002(-) TGTGGT/CTAGAA 3 -- int18Minor allele frequency- C:0.03NS EA NA WA 658
    rs767660731,2
    F,--50027254(+) AATGCC/TAAGGA 3 -- int11Minor allele frequency- T:0.02EA 120
    rs111701851,2
    H,--50027672(+) CATGCG/ATGGTG 3 -- int14Minor allele frequency- A:0.00NS EA 420

    HapMap Linkage Disequilibrium report for KRT72 (52979373 - 52995322 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for KRT72: --

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    KRT72 for disorders           About GeneDecksing

    OMIM gene information: 608246    OMIM disorders: --

    4 diseases for KRT72:    About MalaCards
    pachyonychia congenita    pharyngitis    breast cancer    neuronitis

    1 disease from the University of Copenhagen DISEASES database for KRT72:
    Pachyonychia congenita

    Export disorders for KRT72 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 KRT72 gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with KRT72)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Keratin K6irs is specific to the inner root sheath of hair follicles in mice and humans. (PubMed id 11703281)1, 2, 3, 9 Porter R.M....McLean W.H. (2001)
    2. K6irs1, K6irs2, K6irs3, and K6irs4 represent the inner-root-sheath-specific type II epithelial keratins of the human hair follicle. (PubMed id 12648212)1, 2, 3 Langbein L....Schweizer J. (2003)
    3. New consensus nomenclature for mammalian keratins. (PubMed id 16831889)1, 3 Schweizer J....Wright M.W. (2006)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Comparison of immunohistochemical staining in breast p apillary neoplasms of cytokeratin 5/6 and p63 in core needle biopsies and surgic al excisions. (PubMed id 22553810)1 Koo J.S....Park B.W. (2012)
    6. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    7. Reliability of the 34bE12, keratin 5/6, p63, bcl-2, an d AMACR in the diagnosis of prostate carcinoma. (PubMed id 20189848)1 Boran C....Akyol M. (2011)
    8. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    9. Exquisite sensitivity of TP53 mutant and basal breast cancers to a dose-dense epirubicin-cyclophosphamide regimen. (PubMed id 17388661)1 Bertheau P....de The H. (2007)
    10. K25 (K25irs1), K26 (K25irs2), K27 (K25irs3), and K28 (K25irs4) represent the type I inner root sheath keratins of the human hair follicle. (PubMed id 16874310)2 Langbein L.... Schweizer J. (2006)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 140807 HGNC: 28932 AceView: K6IRS2 Ensembl:ENSG00000170486 euGenes: HUgn140807
    ECgene: KRT72 H-InvDB: KRT72

    (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 KRT72 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KRT72 gene:
    Search GeneIP for patents involving KRT72

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



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