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KRTAP12-2 Gene

protein-coding   GIFtS: 34
GCID: GC21M046086

Keratin Associated Protein 12-2

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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 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000021.8  NC_018932.2  NT_011512.12  
Regulatory elements:
   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:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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,
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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


See KRTAP12-2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_859012.1  
ENSEMBL proteins: 
 ENSP00000354001  

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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

2 InterPro protein domains:
 IPR007951 KRTAP_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


Find genes that share domains with KRTAP12-2           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: 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

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

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

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

Find genes that share ontologies with KRTAP12-2           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 KRTAP12-2
Interactions:

    Search GeneGlobe Interaction Network for KRTAP12-2

(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 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,
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 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:

NM_181684 AB076362 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™, 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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KRTAP12-2 expression in normal human tissues (normalized intensities)
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
 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   
 
 Epithelial Cells
         Fetal Medulla Cells Hair Shaft
 
 Tooth (Integumentary System)
         mouse/organ system/integumental system   
KRTAP12-2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

KRTAP12-2 Protein Expression

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

Orthologs for KRTAP12-2 gene from Selected species (see all 5)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia 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)
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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

Find genes that share paralogs with KRTAP12-2           About GenesLikeMe



(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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6 SNPs for KRTAP12-2    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 21 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs124837301,2,4
----see VAR_0534682 mis40--------
rs130469031,2,4
----see VAR_0600572 mis40--------
rs72752981,2,4
----see VAR_0600582 mis40--------
rs72768591,2,4
----see VAR_0621152 mis40--------
rs72752811,2,4
----see VAR_0600592 mis40--------
rs28386221,2,4
----see VAR_0534692 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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  --

(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 KRTAP12-2 gene integrated from 10 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. (J. Invest. Dermatol. 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. (Genome Res. 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. (Genomics 2004)
  4. The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2 Hattori M.... Yaspo M.-L. (Nature 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. (Proc. Natl. Acad. Sci. U.S.A. 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: 353323 HGNC: 20530 AceView: KRTAP12-2 Ensembl:ENSG00000221864 euGenes: HUgn353323
ECgene: KRTAP12-2 H-InvDB: KRTAP12-2

(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 KRTAP12-2 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 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, 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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 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
 Browse compounds at ApexBio
 Search Addgene for plasmids for KRTAP12-2
  Search eBioscience for proteins for KRTAP12-2
  Search eBioscience for elisas for KRTAP12-2
  eBioscience FlowRNA Probe Sets
 genOway: Develop your customized and physiologically relevant rodent model for KRTAP12-2
  Search antibodies-online for antibodies for KRTAP12-2
 antibodies-online kits for KRTAP12-2 (4 products)
  Search antibodies-online for peptides for KRTAP12-2
 antibodies-online proteins for KRTAP12-2 (2 products)
       
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