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KRTAP10-2 Gene

protein-coding   GIFtS: 38
GCID: GC21M045970

Keratin Associated Protein 10-2


(Previous symbol: KRTAP18-2)
  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)
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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 10-21 2     KAP10.22 3
KRTAP18-21 2 3     KAP18-22 3
High Sulfur Keratin-Associated Protein 10.22 3     KRTAP10.22 3
Keratin-Associated Protein 10.22 3     KRTAP18.22 3
Keratin-Associated Protein 18-22 3     KAP18.22
Keratin-Associated Protein 18.22 3     Keratin-Associated Protein 10-22

External Ids:    HGNC: 229671   Entrez Gene: 3866792   Ensembl: ENSG000002054457   UniProtKB: P603683   
ORGUL members:         

Export aliases for KRTAP10-2 gene to outside databases

Previous GC identifers: GC21U900094 GC21M044794 GC21M031344


(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 KRTAP10-2 Gene:
This gene encodes 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 gene encodes a member of the high sulfur KAP family. It is localized to a cluster of
intronless KAPs at 21q22.3 which are located within the introns of the C21orf29 gene. (provided by RefSeq, Jul
2008)

GeneCards Summary for KRTAP10-2 Gene:
KRTAP10-2 (keratin associated protein 10-2) is a protein-coding gene. Diseases associated with KRTAP10-2 include fraser syndrome. An important paralog of this gene is KRTAP10-6.

UniProtKB/Swiss-Prot: KR102_HUMAN, P60368
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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000021.9  NC_018932.2  NT_011512.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the KRTAP10-2 gene promoter:
         HEN1   NF-1   NF-1/L   Pbx1a   Olf-1   AP-4   HNF-4alpha1   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRTAP10-2 promoter sequence
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KRTAP10-2


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

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.3   HGNC cytogenetic band: 21q22.3

KRTAP10-2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRTAP10-2 gene location

GeneLoc information about chromosome 21         GeneLoc Exon Structure

GeneLoc location for GC21M045970:  view genomic region     (about GC identifiers)

Start:
45,970,240 bp from pter      End:
45,971,388 bp from pter
Size:
1,149 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: KR102_HUMAN, P60368 (See protein sequence)
Recommended Name: Keratin-associated protein 10-2  
Size: 255 amino acids; 25616 Da
Subunit: Interacts with hair keratins
Secondary accessions: Q70LJ5
Alternative splicing: 1 isoform:  P60368-1   

Explore the universe of human proteins at neXtProt for KRTAP10-2: NX_P60368

Explore proteomics data for KRTAP10-2 at MOPED


See KRTAP10-2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_941966.1  
ENSEMBL proteins: 
 ENSP00000375479  

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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:
KRTAP: Keratin associated proteins

1 InterPro protein domain:
 IPR002494 Keratin-assoc

Graphical View of Domain Structure for InterPro Entry P60368

ProtoNet protein and cluster: P60368

UniProtKB/Swiss-Prot: KR102_HUMAN, P60368
Similarity: Belongs to the KRTAP type 10 family


KRTAP10-2 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,
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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: KR102_HUMAN, P60368
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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(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
extracellular3
cytoskeleton2
cytosol1
mitochondrion1
plasma membrane1

Gene Ontology (GO): 1 cellular component term:    About this table

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

KRTAP10-2 for ontologies           About GeneDecksing


(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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Interactions:

    Search GeneGlobe Interaction Network for KRTAP10-2

(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 Tocris compounds for KRTAP10-2 (KR102)



(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for KRTAP10-2 gene: 
NM_198693.2  

Unigene Cluster for KRTAP10-2:

Keratin associated protein 10-2
Hs.664660
Unigene Representative Sequence: AB076348
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000391621(uc002zfi.1) ENST00000498210
miRNA
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Additional mRNA sequence: 

AB076348.1 AJ566381.1 

1 DOTS entry:

DT.40285404 

5 AceView cDNA sequences:

NM_198693 AB076348 AB076349 AJ566381 AJ003277 

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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KRTAP10-2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TCCATCTGCT
KRTAP10-2 Expression
About this image

KRTAP10-2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

KRTAP10-2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.664660

UniProtKB/Swiss-Prot: KR102_HUMAN, P60368
Tissue specificity: Restricted to a narrow region of the hair fiber cuticle, lying approximately 20 cell layers
above the apex of the dermal papilla of the hair root; not detected in any other tissues

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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 human and mouse.

Orthologs for KRTAP10-2 gene from Selected species (see all 5)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Gm71375 predicted gene 7137   --   10 (39.72 cM) 77787490 


ENSEMBL Gene Tree for KRTAP10-2 (if available)
TreeFam Gene Tree for KRTAP10-2 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for KRTAP10-2 gene
KRTAP10-62  KRTAP10-112  KRTAP10-52  KRTAP10-92  KRTAP10-72  KRTAP10-102  KRTAP16-12  KRTAP10-12  
KRTAP10-82  KRTAP10-32  KRTAP10-42  KRTAP10-122  KRTAP29-12  
9 SIMAP similar genes for KRTAP10-2 using alignment to 1 protein entry:     KR102_HUMAN:
KRTAP10-9    KRTAP10-1    KRTAP10-5    KRTAP10-11    KRTAP10-10    KRTAP10-3
KRTAP10-8    KRTAP10-6    KRTAP10-7

KRTAP10-2 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), 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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8 SNPs for KRTAP10-2    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 21 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs676929691,2
C,F--45970760(+) ATGGACTTGCAGC
AGACAGG
/-
CTTGC
1 -- cds12Minor allele frequency- -:0.50NA CSA 4
rs616604731,2
C--45971395(+) GTGTGAGTGAGT 
 GTGTG
/-
TGTGA
1 -- cds11Minor allele frequency- -:0.00NA 2
rs23298341,2,4
----see VAR_0534622 mis40--------
VAR_0176934
----see VAR_0176932 R G mis40--------
rs2332401,2,4
----see VAR_0176902 mis40--------
rs4789671,2,4
----see VAR_0176912 mis40--------
rs2332391,2,4
----see VAR_0176922 mis40--------
rs711996101,2
----45970772(+) CAGAC-/AGGCTT
GCAGCAGAC
GGACA
1 -- cds11Minor allele frequency- AGGCTTGCAGCAGAC:0.00NA 2

HapMap Linkage Disequilibrium report for KRTAP10-2 (45970240 - 45971388 bp)

Structural Variations
     Database of Genomic Variants (DGV) 9 variations for KRTAP10-2:    About this table    
Variant IDTypeSubtypePubMed ID
esv2723638CNV Deletion23290073
esv2723673CNV Deletion23290073
nsv913943CNV Loss21882294
esv33817CNV Loss17666407
nsv913948CNV Loss21882294
nsv913898CNV Loss21882294
nsv913946CNV Gain21882294
nsv913950CNV Gain21882294
esv7169OTHER Inversion19470904

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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.)
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1 disease for KRTAP10-2:    About MalaCards
fraser syndrome


KRTAP10-2 for disorders           About GeneDecksing


Export disorders for KRTAP10-2 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)
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PubMed articles for KRTAP10-2 gene integrated from 10 sources:
(articles sorted by number of sources associating them with KRTAP10-2)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Hair keratin associated proteins: characterization of a second high sulfur KAP gene domain on human chromosome 21. (PubMed id 14962103)1, 2 Rogers M.A....Schweizer J. (J. Invest. Dermatol. 2004)
  2. A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3. (PubMed id 15028290)1, 2 Shibuya K....Shimizu N. (Genomics 2004)
  3. The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2 Hattori M.... Yaspo M.-L. (Nature 2000)
  4. 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 Rogers M.A....Schweizer J. (J. Biol. Chem. 2002)

(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: 386679 HGNC: 22967 AceView: KRTAP10-2 Ensembl:ENSG00000205445 euGenes: HUgn386679
ECgene: KRTAP10-2 H-InvDB: KRTAP10-2

(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 KRTAP10-2 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for KRTAP10-2 gene:
Search GeneIP for patents involving KRTAP10-2

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