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

KRTAP6-2 Gene

protein-coding   GIFtS: 33
GCID: GC21M031970

Keratin Associated Protein 6-2

  Search for KRTAP6-2
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

Aliases
Keratin Associated Protein 6-21 2
KAP6.22 3
Keratin-Associated Protein 6-22

External Ids:    HGNC: 189321   Entrez Gene: 3379672   Ensembl: ENSG000001869307   UniProtKB: Q3LI663   

Export aliases for KRTAP6-2 gene to outside databases

Previous GC identifers: GC21U900017 GC21M030891 GC21M030892 GC21M017379


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

GeneCards Summary for KRTAP6-2 Gene: 
KRTAP6-2 (keratin associated protein 6-2) is a protein-coding gene.

UniProtKB/Swiss-Prot: KRA62_HUMAN, Q3LI66
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_000021.8  NC_018932.2  NT_011512.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KRTAP6-2 gene promoter:
         NF-YB   SRY   Sox5   AML1a   NF-YA   NF-YC   CP1C   CP1A   NF-Y   POU3F2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRTAP6-2 promoter sequence
   Search SABiosciences Chromatin IP Primers for KRTAP6-2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRTAP6-2


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

Entrez Gene cytogenetic band: 21q22.1   Ensembl cytogenetic band:  21q22.11   HGNC cytogenetic band: 21q22.1

KRTAP6-2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRTAP6-2 gene location

GeneLoc information about chromosome 21         GeneLoc Exon Structure

GeneLoc location for GC21M031970:  view genomic region     (about GC identifiers)

Start:
31,970,909 bp from pter      End:
31,971,219 bp from pter
Size:
311 bases      Orientation:
minus 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: KRA62_HUMAN, Q3LI66 (See protein sequence)
Recommended Name: Keratin-associated protein 6-2  
Size: 62 amino acids; 6654 Da
Subunit: Interacts with hair keratins (By similarity)

Explore the universe of human proteins at neXtProt for KRTAP6-2: NX_Q3LI66

Explore proteomics data for KRTAP6-2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q3LI66

  • KRTAP6-2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KRTAP6-2 Protein Expression
    REFSEQ proteins: NP_853635.1  
    ENSEMBL proteins: 
     ENSP00000334560  

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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:0005882intermediate filament IEA--

    KRTAP6-2 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:
     IPR021743 KRTAP

    Graphical View of Domain Structure for InterPro Entry Q3LI66

    ProtoNet protein and cluster: Q3LI66

    UniProtKB/Swiss-Prot: KRA62_HUMAN, Q3LI66
    Similarity: Belongs to the KRTAP type 6 family


    KRTAP6-2 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: KRA62_HUMAN, Q3LI66
    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 KRTAP6-2

    (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
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    Search CenterWatch for drugs/clinical trials and news about KRTAP6-2 / KRA62

    (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,
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    About This Section

    REFSEQ mRNAs for KRTAP6-2 gene: 
    NM_181604.1  

    Unigene Cluster for KRTAP6-2:

    Keratin associated protein 6-2
    Hs.553690
    Unigene Representative Sequence: AB096952
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000334897(uc011adc.2)
    miRNA
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    Additional mRNA sequence: 

    AB096952.1 BC093915.1 BC093917.1 

    1 DOTS entry:

    DT.100703696 

    1 AceView cDNA sequence:

    NM_181604 

    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

    KRTAP6-2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTACGGCTC
    KRTAP6-2 Expression
    About this image


    See KRTAP6-2 Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.553690
        SABiosciences Custom PCR Arrays for KRTAP6-2
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRTAP6-2

    (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 mammals.

    Orthologs for KRTAP6-2 gene from 1/2 species (see all 2)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia KRTAP6-26
    keratin associated protein 6-2
    58(a)
    1 ↔ 1
    31(25502454-25502696)


    ENSEMBL Gene Tree for KRTAP6-2 (if available)
    TreeFam Gene Tree for KRTAP6-2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/42 SNPs in KRTAP6-2 are shown (see all 42)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs738999911,2
    C,F--31970517(+) TGCACG/AGTTTT 1 -- ds50013Minor allele frequency- A:0.08WA CSA 121
    rs1443098381,2
    --31970532(+) TCTGTA/TCATGC 1 -- ds50010--------
    rs1821554351,2
    C--31970540(+) TGCTCA/GGTTTT 1 -- ds50010--------
    rs1496860861,2
    C--31970601(+) TTAAC-/ATAAAT 1 -- ds50010--------
    rs169868831,2
    C,F--31970639(+) TGGATA/GCTAAT 1 -- ds50013Minor allele frequency- G:0.01NA 140
    rs1128961621,2
    C,F--31970865(+) GTGGGG/AGGGTC 1 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs1115461761,2
    C--31970943(+) GCATAT/CGGGGT 1 -- ds50011Minor allele frequency- C:0.00CSA 1
    rs1122668931,2
    C--31970951(+) GGTTCG/AGAATT 1 -- ds50011Minor allele frequency- A:0.00CSA 1
    rs2018438761,2
    C--31970969(+) CCCGAC/TGTCAC 1 -- ds50010--------
    rs796330201,2
    C--31971054(+) AGAAGC/GGGGAG 2 P R mis10--------

    HapMap Linkage Disequilibrium report for KRTAP6-2 (31970909 - 31971219 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for KRTAP6-2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv913677CNV Loss21882294

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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
      --

    (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 article for KRTAP6-2 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with KRTAP6-2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of a first domain of human high glycine-tyrosine and high sulfur keratin-associated protein (KAP) genes on chromosome 21q22.1. (PubMed id 12359730)1, 3 Rogers M.A....Schweizer J. (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: 337967 HGNC: 18932 AceView: KRTAP6-2 Ensembl:ENSG00000186930 euGenes: HUgn337967
    ECgene: KRTAP6-2 H-InvDB: KRTAP6-2

    (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 KRTAP6-2 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 KRTAP6-2 gene:
    Search GeneIP for patents involving KRTAP6-2

    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
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    About This Section

     
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     Proteins for KRTAP6-2
     Antibodies for KRTAP6-2
     ELISAs for KRTAP6-2
     CLIAs for KRTAP6-2
     Search LifeMap BioReagents cell lines for KRTAP6-2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRTAP6-2
     Browse SwitchGear 3'UTR luciferase reporter plasmids for KRTAP6-2
     SwitchGear Promoter luciferase reporter plasmids for KRTAP6-2
     Search ThermoFisher Antibodies for KRTAP6-2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRTAP6-2
     inGenious Targeting Laboratory - Custom generated mouse model solutions for KRTAP6-2
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for KRTAP6-2
    Customized:
     lentivirus for stable overexpression of KRTAP6-2
     lentivirus expression plasmids for stable overexpression of KRTAP6-2
     adenovirus for overexpression of KRTAP6-2
     Search LSBio for Antibodies for KRTAP6-2
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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