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KRT76 Gene

protein-coding   GIFtS: 47
GCID: GC12M053161

Keratin 76

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(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 761 2     Cytokeratin 22
Type-II Keratin Kb92 3     cytokeratin-2P2
CK-2P2 3     Keratin 2p2
K2P2 3     Keratin, Type II Cytoskeletal 2 Oral2
K762 3     keratin-762
KRT2B2 3     Cytokeratin-2P3
KRT2P2 3     Keratin-763
HUMCYT2A2     

External Ids:    HGNC: 244301   Entrez Gene: 513502   Ensembl: ENSG000001850697   UniProtKB: Q015463   

Export aliases for KRT76 gene to outside databases

Previous GC identifers: GC12M051450 GC12M050205


(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 KRT76 Gene:
Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are
subdivided into epithelial keratins and hair keratins. The type II keratins are clustered in a region of
chromosome 12q13. (provided by RefSeq, Jun 2009)

GeneCards Summary for KRT76 Gene:
KRT76 (keratin 76) is a protein-coding gene. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is KRT74.

UniProtKB/Swiss-Prot: K22O_HUMAN, Q01546
Function: Probably contributes to terminal cornification




(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 KRT76 gene promoter:
         AREB6   SREBP-1a   AML1a   p53   p300   COMP1   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRT76 promoter sequence
   Search Chromatin IP Primers for KRT76

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KRT76


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

KRT76 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRT76 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M053161:  view genomic region     (about GC identifiers)

Start:
53,161,939 bp from pter      End:
53,171,129 bp from pter
Size:
9,191 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: K22O_HUMAN, Q01546 (See protein sequence)
Recommended Name: Keratin, type II cytoskeletal 2 oral  
Size: 638 amino acids; 65841 Da
Subunit: Heterotetramer of two type I and two type II keratins
Developmental stage: Synthesized during maturation of epidermal keratinocytes
Miscellaneous: There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II
(neutral to basic; 56-70 kDa)
Sequence caution: Sequence=BAG61375.1; Type=Erroneous termination; Positions=267; Note=Translated as Glu;
Secondary accessions: B4DRR3 Q7Z795

Explore the universe of human proteins at neXtProt for KRT76: NX_Q01546

Explore proteomics data for KRT76 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys193, Lys200, Lys272
  • Modification sites at PhosphoSitePlus

  • See KRT76 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_056932.2  
    ENSEMBL proteins: 
     ENSP00000330101  

    KRT76 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for KRT76

     
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    antibodies-online proteins for KRT76 (3 products) 

     
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    antibodies-online antibodies for KRT76 (11 products) 

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    antibodies-online kits for KRT76 (4 products) 


    (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 Q01546

    ProtoNet protein and cluster: Q01546

    4 Blocks protein domains:
    IPB000873 AMP-binding signature
    IPB001664 Intermediate filament protein
    IPB002957 Type I keratin signature
    IPB003054 Type II keratin signature


    UniProtKB/Swiss-Prot: K22O_HUMAN, Q01546
    Similarity: Belongs to the intermediate filament family


    Find genes that share domains with KRT76           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: K22O_HUMAN, Q01546
    Function: Probably contributes to terminal cornification

         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 KRT76           About GenesLikeMe


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Krt76):
     behavior/neurological  endocrine/exocrine gland  integument  limbs/digits/tail 

    Find genes that share phenotypes with KRT76           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for KRT76

    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate KRT76:
    hsa-miR-515-5p hsa-miR-519e*
    SwitchGear 3'UTR luciferase reporter plasmidKRT76 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat KRT76

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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
    cytoskeleton5
    cytosol3
    nucleus2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005882intermediate filament NAS1282112
    GO:0045095keratin filament IEA--
    GO:0045111intermediate filament cytoskeleton ----

    Find genes that share ontologies with KRT76           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KRT76
    Interactions:

        Search GeneGlobe Interaction Network for KRT76

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    Selected Interacting proteins for KRT76 (Q015463 ENSP000003301014) via UniProtKB, MINT, STRING, and/or I2D (see all 36)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GABARAPL1Q9H0R83I2D: score=2 
    AMBRA1Q9C0C73I2D: score=1 
    ATG101Q9BSB43I2D: score=1 
    ATG12O948173I2D: score=1 
    ATG13O751433I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007010cytoskeleton organization NAS1282112

    Find genes that share ontologies with KRT76           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 KRT76 (K22O)



    (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 KRT76 gene: 
    NM_015848.4  

    Unigene Cluster for KRT76:

    Keratin 76
    Hs.654392  [show with all ESTs]
    Unigene Representative Sequence: NM_015848
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000332411(uc001sax.3)
    miRNA
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    Block miRNA regulation of human, mouse, rat KRT76 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate KRT76:
    hsa-miR-515-5p hsa-miR-519e*
    SwitchGear 3'UTR luciferase reporter plasmidKRT76 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat KRT76
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      QuantiTect SYBR Green Assays in human, mouse, rat KRT76
      QuantiFast Probe-based Assays in human, mouse, rat KRT76

    Additional mRNA sequence: 

    AK299390.1 M99063.1 

    3 DOTS entries:

    DT.40127956  DT.100740885  DT.441275 

    Selected AceView cDNA sequences (see all 251):

    AA629199 C00570 BM715509 AU077018 BC039148 BE735977 BQ027522 BM697307 
    NM_175834 BE742142 AW265613 AJ564105 BG741384 BP371899 BF830977 AW082111 
    AK130156 BG674415 BG674144 BE272256 CB305495 CB851721 BC003630 BG743809 

    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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    KRT76 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KRT76 Expression
    About this image

    KRT76 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KRT76 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654392
        Custom PCR Arrays for KRT76
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT76

    (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 KRT76 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Krt761 , 5 keratin 761, 5 88.08(n)1
    88.27(a)1
      15 (57.10 cM)5
    770551  NM_001033177.21  NP_001028349.11 
     1018843515 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    64(a)
    1 → many
    LGE22C19W28_E50C23(558727-563179)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    56(a)
    1 → many
    2(95689544-95704356)


    ENSEMBL Gene Tree for KRT76 (if available)
    TreeFam Gene Tree for KRT76 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KRT76 gene
    KRT742  KRT772  KRT6B2  KRT832  KRT32  KRT842  KRT862  KRT82  
    KRT812  KRT712  KRT72  KRT792  KRT722  KRT732  KRT6C2  KRT52  
    KRT6A2  KRT852  KRT22  KRT752  KRT12  KRT822  KRT42  
    Selected SIMAP similar genes for KRT76 using alignment to 1 protein entry:     K22O_HUMAN(see all similar genes):
    KRTHB6    KRT3    KRT7    KRT1B    KRT72    KRT5
    KRT2    KRT8    KRT6A    KRT6B    KRT6C    KRT77
    KRT1    KRT78    KRT4    KRT75    KRT74    KRT80

    Find genes that share paralogs with KRT76           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for KRT76
    PGOHUM00000239459


    (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 KRT76 (see all 364)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0363684
    A breast cancer sample4--see VAR_0363682 L V mis40--------
    rs1491030911,2
    --52995938(+) AAGATA/GTTATG 1 -- ds50010--------
    rs1820548881,2
    --52996044(+) CAGTGA/GAATCT 1 -- ds50010--------
    rs79660151,2
    C,F,H--52996127(+) AGGATG/AGGATG 1 -- ds50015Minor allele frequency- A:0.01NS EA WA 534
    rs37417281,2
    C,F,A,H--52996156(+) AAGGTC/TTCCCC 1 -- ds500117Minor allele frequency- T:0.09EA NS NA WA CSA 1528
    rs108763391,2
    C,F,A,H--52996180(+) CCTGGG/ACAGAC 1 -- ds500121Minor allele frequency- A:0.16NS EA NA WA 2760
    rs1151529951,2
    C,F--52996190(+) CCTATC/TACGGG 1 -- ds50011Minor allele frequency- T:0.02WA 118
    rs1860345681,2
    --52996241(+) GCCTTC/TATACC 1 -- ds50010--------
    rs1430329501,2
    C--52996275(+) ATCACA/CCCCAC 1 -- ds50010--------
    rs733161831,2
    C,F--52996326(+) CTCCTG/AGAATA 1 -- ds50012Minor allele frequency- A:0.20WA 120

    HapMap Linkage Disequilibrium report for KRT76 (53161939 - 53171129 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for KRT76:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv270850CNV Insertion20981092
    nsv528616CNV Loss19592680
    nsv899095CNV Loss21882294
    nsv899093CNV Gain21882294
    nsv899094CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KRT76
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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.)
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    Find genes that share disorders with KRT76           About GenesLikeMe

    Genetic Association Database (GAD): KRT76

    Export disorders for KRT76 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 KRT76 gene, integrated from 10 sources (see all 20):
    (articles sorted by number of sources associating them with KRT76)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Suprabasal marker proteins distinguishing keratinizing squamous epithelia: cytokeratin 2 polypeptides of oral masticatory epithelium and epidermis are different. (PubMed id 1282112)1, 2, 3, 9 Collin C.... Franke W.W. (Differentiation 1992)
    2. New consensus nomenclature for mammalian keratins. (PubMed id 16831889)1, 3 Schweizer J....Wright M.W. (J. Cell Biol. 2006)
    3. Characterization of new members of the human type II keratin gene family and a general evaluation of the keratin gene domain on chromosome 12q13.13. (PubMed id 15737194)1, 2 Rogers M.A....Schweizer J. (J. Invest. Dermatol. 2005)
    4. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    5. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    6. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    7. A data set of human endogenous protein ubiquitination sites. (PubMed id 20972266)1 Shi Y....Qin J. (amp 2011)
    8. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (J. Biol. Chem. 2011)
    9. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    10. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (Cell 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 51350 HGNC: 24430 AceView: KRT4andHUMCYT2AandKRT3andK5BandKRT6L Ensembl:ENSG00000185069 euGenes: HUgn51350
    ECgene: KRT76 H-InvDB: KRT76

    (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 KRT76 Pharmacogenomics, SNPs, Pathways
    Human Intermediate Filament Mutation Databasehttp://www.interfil.org

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KRT76 gene:
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    (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
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