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

KRTAP9-2 Gene

protein-coding   GIFtS: 38
GCID: GC17P039383

Keratin Associated Protein 9-2

  See related disease
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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Keratin Associated Protein 9-21 2
Keratin-Associated Protein 9.22 3
Ultrahigh Sulfur Keratin-Associated Protein 9.22 3
KAP9.22 3
KRTAP9.22 3
Keratin-Associated Protein 9-22

External Ids:    HGNC: 169261   Entrez Gene: 838992   Ensembl: ENSG000002398867   UniProtKB: Q9BYQ43   
ORGUL members:         
NONCODE14:n335525      

Export aliases for KRTAP9-2 gene to outside databases

Previous GC identifers: GC17U990250 GC17P041487 GC17P039291 GC17P039757 GC17P039722 GC17P036636 GC17P035157


(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 KRTAP9-2 Gene:
This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin
intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have
unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families
according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs.
This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at
17q12-q21. (provided by RefSeq, Jul 2008)

GeneCards Summary for KRTAP9-2 Gene: 
KRTAP9-2 (keratin associated protein 9-2) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with KRTAP9-2 include fraser syndrome. An important paralog of this gene is KRTAP9-3.

UniProtKB/Swiss-Prot: KRA92_HUMAN, Q9BYQ4
Function: In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix,
consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and
resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair
keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.2  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KRTAP9-2 gene promoter:
         SREBP-1a   SREBP-1c   MyoD   AP-4   Tal-1beta   SREBP-1b   E47   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for KRTAP9-2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRTAP9-2


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

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

KRTAP9-2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRTAP9-2 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P039383:  view genomic region     (about GC identifiers)

Start:
39,382,900 bp from pter      End:
39,383,904 bp from pter
Size:
1,005 bases      Orientation:
plus strand

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

UniProtKB/Swiss-Prot: KRA92_HUMAN, Q9BYQ4 (See protein sequence)
Recommended Name: Keratin-associated protein 9-2  
Size: 174 amino acids; 18287 Da
Subunit: Interacts with hair keratins
Secondary accessions: Q17RK8 Q2TB15

Explore the universe of human proteins at neXtProt for KRTAP9-2: NX_Q9BYQ4

Explore proteomics data for KRTAP9-2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BYQ4

  • KRTAP9-2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KRTAP9-2 Protein Expression
    REFSEQ proteins: NP_114167.2  
    ENSEMBL proteins: 
     ENSP00000366950   ENSP00000398325  

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    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--

    KRTAP9-2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    KRTAP: Keratin associated proteins

    1 InterPro protein domain:
     IPR002494 Keratin-assoc

    Graphical View of Domain Structure for InterPro Entry Q9BYQ4

    ProtoNet protein and cluster: Q9BYQ4

    UniProtKB/Swiss-Prot: KRA92_HUMAN, Q9BYQ4
    Similarity: Belongs to the KRTAP type 9 family


    KRTAP9-2 for domains           About GeneDecksing


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KRA92_HUMAN, Q9BYQ4
    Function: In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix,
    consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and
    resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair
    keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins

    Animal Models:

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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KRTAP9-2

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

    1 Interacting protein for KRTAP9-2 (Q9BYQ43 ENSP000003669504) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDC20Q128343, ENSP000003084504I2D: score=2 STRING: ENSP00000308450
    About this table

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

    Browse Tocris compounds for KRTAP9-2 (KRA92)

    Search CenterWatch for drugs/clinical trials and news about KRTAP9-2 / KRA92

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

    REFSEQ mRNAs for KRTAP9-2 gene: 
    NM_031961.2  

    Unigene Cluster for KRTAP9-2:

    Keratin associated protein 9-2
    Hs.307013  [show with all ESTs]
    Unigene Representative Sequence: AJ406946
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000377721(uc002hwf.3) ENST00000455970
    miRNA
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    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for KRTAP9-2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KRTAP9-2
    Clone
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                         Customized lentivirus expression plasmids for stable overexpression of KRTAP9-2 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for KRTAP9-2
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KRTAP9-2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KRTAP9-2

    Additional mRNA sequence: 

    AJ406946.1 BC069560.1 BC110619.2 BC117287.1 

    2 DOTS entries:

    DT.432733  DT.104971 

    8 AceView cDNA sequences:

    AA010677 NM_031961 BX282351 AJ406949 BC069560 AJ406946 BV174393 AA010884 

    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

    KRTAP9-2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KRTAP9-2 Expression
    About this image


    See KRTAP9-2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KRTAP9-2

    SOURCE GeneReport for Unigene cluster: Hs.307013
        SABiosciences Custom PCR Arrays for KRTAP9-2
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRTAP9-2

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

    This gene was present in the common ancestor of chordates.

    Orthologs for KRTAP9-2 gene from 1/4 species (see all 4)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    zebrafish
    (Danio rerio)
    Actinopterygii --
    CABZ01056821.26
    Uncharacterized protein
    20(a)
    15(a)
    many ↔ many
    many ↔ many
    23(41555122-41555796)
    23(41563198-41563920)
            Species with no ortholog for KRTAP9-2

    ENSEMBL Gene Tree for KRTAP9-2 (if available)
    TreeFam Gene Tree for KRTAP9-2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KRTAP9-2 gene
    KRTAP9-32  KRTAP4-42  KRTAP9-12  KRTAP9-62  KRTAP4-72  KRTAP4-52  KRTAP4-22  KRTAP9-42  
    KRTAP4-12  KRTAP9-72  KRTAP4-92  KRTAP4-122  KRTAP9-92  KRTAP4-82  KRTAP4-16P2  KRTAP9-82  
    KRTAP4-62  KRTAP4-112  KRTAP4-32  
    9 SIMAP similar genes for KRTAP9-2 using alignment to 3 protein entries:     KRA92_HUMAN (see all proteins):
    KRTAP9-7    KRTAP9-9    KRTAP9-8    KRTAP9-6    KRTAP9-3    KRTAP9-4
    KRTAP9-1    KRTAP4-2    KRTAP4-1

    KRTAP9-2 for paralogs           About GeneDecksing



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

    10/114 SNPs in KRTAP9-2 are shown (see all 114)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1821757221,2
    --39380996(+) AAAGAC/TTACAA 1 -- us2k10--------
    rs1473221471,2
    --39381103(+) TGTTGA/TTCCCC 1 -- us2k10--------
    rs129433811,2
    C,H--39381160(+) GAAATT/CGCCTT 1 -- us2k15Minor allele frequency- C:0.00NS EA NA 410
    rs1859649831,2
    --39381224(+) AGGAAA/TTTTGC 1 -- us2k10--------
    rs1899548841,2
    --39381229(+) TTTTGC/TTATAT 1 -- us2k10--------
    rs1826167021,2
    --39381234(+) CTATAC/TTCGGA 1 -- us2k10--------
    rs1488087811,2
    --39381284(+) ATAGGA/GGAATA 1 -- us2k10--------
    rs1873186501,2
    --39381293(+) TATATC/TTTTGG 1 -- us2k10--------
    rs1422727421,2
    --39381341(+) TAAATA/GAAATC 1 -- us2k10--------
    rs1906249191,2
    --39381345(+) TAAAAC/TCCAAT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for KRTAP9-2 (39382900 - 39383904 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/11 variations for KRTAP9-2 (see all 11):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv987726CNV Deletion20482838
    nsv436228CNV Deletion17901297
    esv2664202CNV Deletion23128226
    nsv2049CNV Loss18451855
    nsv9551CNV Loss18304495
    nsv908232CNV Loss21882294
    nsv510710CNV Loss20534489
    nsv498870CNV Loss21111241
    esv25995CNV Loss19812545
    nsv833446CNV Gain17160897

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for KRTAP9-2:    About MalaCards
    fraser syndrome    


    KRTAP9-2 for disorders           About GeneDecksing


    Export disorders for KRTAP9-2 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 KRTAP9-2 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with KRTAP9-2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of a cluster of human high/ultrahigh sulfur keratin- associated protein genes embedded in the type I keratin gene domain on chromosome 17q12-21. (PubMed id 11279113)1, 2, 3 Rogers M.A....Schweizer J. (2001)
    2. Large-scale mapping of human protein-protein interactions by mass spectrometry. (PubMed id 17353931)1 Ewing R.M.... Figeys D. (2007)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 83899 HGNC: 16926 AceView: KRTAP9-2 Ensembl:ENSG00000239886 euGenes: HUgn83899
    ECgene: KRTAP9-2 H-InvDB: KRTAP9-2

    (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 KRTAP9-2 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 KRTAP9-2 gene:
    Search GeneIP for patents involving KRTAP9-2

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
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