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

KRTAP12-2 Gene

protein-coding   GIFtS: 32
GCID: GC21M046086

Keratin Associated Protein 12-2

  Search for KRTAP12-2
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 12-21 2
High Sulfur Keratin-Associated Protein 12.22 3
Keratin-Associated Protein 12.22 3
KAP12.22 3
KRTAP12.22 3
Keratin-Associated Protein 12-22

External Ids:    HGNC: 205301   Entrez Gene: 3533232   Ensembl: ENSG000002218647   UniProtKB: P599913   

Export aliases for KRTAP12-2 gene to outside databases

Previous GC identifers: GC21U900087 GC21M044942 GC21M044910 GC21M031460


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

GeneCards Summary for KRTAP12-2 Gene: 
KRTAP12-2 (keratin associated protein 12-2) is a protein-coding gene. An important paralog of this gene is KRTAP12-3.

UniProtKB/Swiss-Prot: KR122_HUMAN, P59991
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_011515.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KRTAP12-2 gene promoter:
         Spz1   Tal-1   MyoD   STAT5A   POU3F2   E47   AREB6   COMP1   NF-kappaB1   
         Other transcription factors

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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRTAP12-2


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

KRTAP12-2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRTAP12-2 gene location

GeneLoc information about chromosome 21         GeneLoc Exon Structure

GeneLoc location for GC21M046086:  view genomic region     (about GC identifiers)

Start:
46,086,106 bp from pter      End:
46,086,844 bp from pter
Size:
739 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: KR122_HUMAN, P59991 (See protein sequence)
Recommended Name: Keratin-associated protein 12-2  
Size: 146 amino acids; 14689 Da
Subunit: Interacts with hair keratins
Secondary accessions: A6NIS1 A6NMS9 Q0VAS4

Explore the universe of human proteins at neXtProt for KRTAP12-2: NX_P59991

Explore proteomics data for KRTAP12-2 at MOPED 

KRTAP12-2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

KRTAP12-2 Protein Expression

REFSEQ proteins: NP_859012.1  
ENSEMBL proteins: 
 ENSP00000354001  

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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--

KRTAP12-2 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

2 InterPro protein domains:
 IPR007951 PMG
 IPR002494 Keratin-assoc

Graphical View of Domain Structure for InterPro Entry P59991

ProtoNet protein and cluster: P59991

UniProtKB/Swiss-Prot: KR122_HUMAN, P59991
Similarity: Belongs to the KRTAP type 12 family


KRTAP12-2 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: KR122_HUMAN, P59991
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

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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 KRTAP12-2

(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
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Browse Tocris compounds for KRTAP12-2 (KR122)

Search CenterWatch for drugs/clinical trials and news about KRTAP12-2 / KR122

(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,
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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 KRTAP12-2 gene: 
NM_181684.2  

Unigene Cluster for KRTAP12-2:

Keratin associated protein 12-2
Hs.567902
Unigene Representative Sequence: AJ566389
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000360770(uc002zfu.3)
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Additional mRNA sequence: 

AB076362.1 AJ566389.1 BC120941.1 

1 DOTS entry:

DT.100737313 

3 AceView cDNA sequences:

AB076362 NM_181684 AJ566389 

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

KRTAP12-2 expression in normal human tissues (normalized intensities)      KRTAP12-2 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AGAGCCAAAT
KRTAP12-2 Expression
About this image


KRTAP12-2 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/3 selected tissues (see all 3) fully expand
 
 Hair (Integumentary System)    fully expand to see all 4 entries
         Fetal Medulla Cells Hair Shaft
         mouse/organ system/integumental system   
 
 Limb (Muscoskeletal System)
         limb/hindlimb   
 
 Tooth
         mouse/organ system/integumental system   

See KRTAP12-2 Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.567902

UniProtKB/Swiss-Prot: KR122_HUMAN, P59991
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)
About This Section

This gene was present in the common ancestor of human and mouse.

Orthologs for KRTAP12-2 gene from 1/6 species (see all 6)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Krtap12-15
Gm101001
keratin associated protein 12-15
predicted gene 101001
77.5(n)1
69.17(a)1
  10 (39.72 cM)5
1005029531  NM_001205033.11  NP_001191962.11 
 777205865 


ENSEMBL Gene Tree for KRTAP12-2 (if available)
TreeFam Gene Tree for KRTAP12-2 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for KRTAP12-2 gene
KRTAP12-32  KRTAP12-12  
6 SIMAP similar genes for KRTAP12-2 using alignment to 1 protein entry:     KR122_HUMAN:
KRTAP10-11    KRTAP12-1    KRTAP16-1    KRTAP10-3    KRTAP10-5    KRTAP10-7

KRTAP12-2 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

6 SNPs in KRTAP12-2 are shown    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 21 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0534684
----see VAR_0534682 A V mis40--------
VAR_0600574
----see VAR_0600572 A T mis40--------
VAR_0600584
----see VAR_0600582 A V mis40--------
VAR_0621154
----see VAR_0621152 S P mis40--------
VAR_0600594
----see VAR_0600592 S C mis40--------
VAR_0534694
----see VAR_0534692 S P mis40--------

HapMap Linkage Disequilibrium report for KRTAP12-2 (46086106 - 46086844 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for KRTAP12-2:    About this table     
Variant IDTypeSubtypePubMed ID
esv2723675CNV Deletion23290073
esv2723676CNV Deletion23290073
nsv913950CNV Gain21882294

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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 articles for KRTAP12-2 gene integrated from 9 sources:
(articles sorted by number of sources associating them with KRTAP12-2)
    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. (2004)
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  3. 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. (2004)
  4. The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2 Hattori M....Yaspo M.L. (2000)
  5. 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: 353323 HGNC: 20530 AceView: KRTAP12-2 Ensembl:ENSG00000221864 euGenes: HUgn353323
ECgene: KRTAP12-2 H-InvDB: KRTAP12-2

(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 KRTAP12-2 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 KRTAP12-2 gene:
Search GeneIP for patents involving KRTAP12-2

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 KRTAP12-2
 Antibodies for KRTAP12-2
 ELISAs for KRTAP12-2
 CLIAs for KRTAP12-2
 Search LifeMap BioReagents cell lines for KRTAP12-2
 Gene Synthesis
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 Protein Production and Purification
 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRTAP12-2
 SwitchGear 3'UTR luciferase reporter plasmids for KRTAP12-2
 Browse SwitchGear Promoter luciferase reporter plasmids for KRTAP12-2
 Search ThermoFisher Antibodies for KRTAP12-2
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRTAP12-2
 inGenious Targeting Laboratory - Custom generated mouse model solutions for KRTAP12-2
 inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for KRTAP12-2
Customized:
 lentivirus for stable overexpression of KRTAP12-2
 lentivirus expression plasmids for stable overexpression of KRTAP12-2
 adenovirus for overexpression of KRTAP12-2
 Search LSBio for Antibodies for KRTAP12-2
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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transforming growth factor, beta 1
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