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Aliases for KRTAP10-2 Gene

Aliases for KRTAP10-2 Gene

  • Keratin Associated Protein 10-2 2 3 5
  • High Sulfur Keratin-Associated Protein 10.2 3 4
  • Keratin-Associated Protein 18-2 3 4
  • Keratin-Associated Protein 18.2 3 4
  • KRTAP18-2 3 4
  • KRTAP10.2 3 4
  • KRTAP18.2 3 4
  • KAP10.2 3 4
  • KAP18-2 3 4
  • Keratin-Associated Protein 10-2 3
  • Keratin-Associated Protein 10.2 4
  • KAP18.2 3

External Ids for KRTAP10-2 Gene

Previous HGNC Symbols for KRTAP10-2 Gene

  • KRTAP18-2

Previous GeneCards Identifiers for KRTAP10-2 Gene

  • GC21U900094
  • GC21M044794
  • GC21M045970
  • GC21M031344

Summaries for KRTAP10-2 Gene

Entrez Gene Summary for KRTAP10-2 Gene

  • This gene encodes a member of the high sulfur-type keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. This gene is located in a cluster of similar genes on 21q22.3. Alternatively-spliced transcript variants have been identified. [provided by RefSeq, Jan 2015]

GeneCards Summary for KRTAP10-2 Gene

KRTAP10-2 (Keratin Associated Protein 10-2) is a Protein Coding gene. Among its related pathways are Keratinization and Developmental Biology. An important paralog of this gene is KRTAP10-9.

UniProtKB/Swiss-Prot for KRTAP10-2 Gene

  • 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.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRTAP10-2 Gene

Genomics for KRTAP10-2 Gene

Regulatory Elements for KRTAP10-2 Gene

Enhancers for KRTAP10-2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH21G044510 1.2 Ensembl ENCODE 11.5 +40.6 40600 1.5 HDGF ATF1 FOXA2 AGO1 ARID4B SIN3A ZNF2 ZNF48 ZNF121 GLIS2 KRTAP10-1 KRTAP10-2 UBE2G2 LINC01424 TSPEAR-AS1 PIR52828
GH21G044791 1.1 Ensembl ENCODE 10.7 -241.5 -241457 2.9 HDAC1 FOXA2 CBX3 RB1 KLF17 ZNF48 RAD21 YY1 ZNF143 ZNF548 UBE2G2 SUMO3 TSPEAR-AS1 TSPEAR-AS2 KRTAP10-2 KRTAP10-1 PTTG1IP IMMTP1 KRTAP12-1 PWP2
GH21G044656 1 FANTOM5 ENCODE 10.7 -106.7 -106654 2.9 KLF1 ZNF146 BHLHE40 HLF ZNF223 SIN3A KLF17 MNT ZNF2 JUND KRTAP10-1 IMMTP1 KRTAP12-1 KRTAP10-2 KRTAP10-12 KRTAP10-10 KRTAP12-4 KRTAP12-3 GC21M045392
GH21G044618 0.9 Ensembl ENCODE 11.3 -67.6 -67582 2.0 CTCF CBX3 L3MBTL2 RAD21 CBX1 ZFHX2 CBX5 EGR1 FOS TRIM28 KRTAP10-11 KRTAP12-3 IMMTP1 KRTAP12-1 KRTAP10-2 KRTAP10-1 TSPEAR-AS1 KRTAP10-6 KRTAP10-8 KRTAP10-9
GH21G044485 0.8 ENCODE 11 +65.9 65892 1.1 HDAC1 CTCF KLF1 ATF1 HINFP MAX SIN3A UBTF RAD21 GATA2 TSPEAR-AS2 KRTAP10-1 KRTAP10-2 GC21M045366 PIR36917 PIR37378
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KRTAP10-2 on UCSC Golden Path with GeneCards custom track

Genomic Location for KRTAP10-2 Gene

Chromosome:
21
Start:
44,550,357 bp from pter
End:
44,551,505 bp from pter
Size:
1,149 bases
Orientation:
Minus strand

Genomic View for KRTAP10-2 Gene

Genes around KRTAP10-2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP10-2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP10-2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP10-2 Gene

Proteins for KRTAP10-2 Gene

  • Protein details for KRTAP10-2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P60368-KR102_HUMAN
    Recommended name:
    Keratin-associated protein 10-2
    Protein Accession:
    P60368
    Secondary Accessions:
    • Q70LJ5

    Protein attributes for KRTAP10-2 Gene

    Size:
    255 amino acids
    Molecular mass:
    25616 Da
    Quaternary structure:
    • Interacts with hair keratins.

    Alternative splice isoforms for KRTAP10-2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KRTAP10-2 Gene

Post-translational modifications for KRTAP10-2 Gene

No Post-translational modifications

Other Protein References for KRTAP10-2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP10-2 Gene

Domains & Families for KRTAP10-2 Gene

Gene Families for KRTAP10-2 Gene

Protein Domains for KRTAP10-2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP10-2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P60368

UniProtKB/Swiss-Prot:

KR102_HUMAN :
  • Belongs to the KRTAP type 10 family.
Family:
  • Belongs to the KRTAP type 10 family.
genes like me logo Genes that share domains with KRTAP10-2: view

Function for KRTAP10-2 Gene

Molecular function for KRTAP10-2 Gene

UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with KRTAP10-2: view

Animal Model Products

CRISPR Products

miRNA for KRTAP10-2 Gene

miRTarBase miRNAs that target KRTAP10-2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KRTAP10-2 Gene

Localization for KRTAP10-2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KRTAP10-2 gene
Compartment Confidence
cytosol 5
extracellular 3
cytoskeleton 2
plasma membrane 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for KRTAP10-2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA --
GO:0045095 keratin filament IEA --
genes like me logo Genes that share ontologies with KRTAP10-2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRTAP10-2 Gene

Pathways & Interactions for KRTAP10-2 Gene

SuperPathways for KRTAP10-2 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRTAP10-2: view

Pathways by source for KRTAP10-2 Gene

2 Reactome pathways for KRTAP10-2 Gene

Interacting Proteins for KRTAP10-2 Gene

Gene Ontology (GO) - Biological Process for KRTAP10-2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP10-2: view

No data available for SIGNOR curated interactions for KRTAP10-2 Gene

Drugs & Compounds for KRTAP10-2 Gene

No Compound Related Data Available

Transcripts for KRTAP10-2 Gene

mRNA/cDNA for KRTAP10-2 Gene

(1) REFSEQ mRNAs :
(5) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP10-2 Gene

No ASD Table

Relevant External Links for KRTAP10-2 Gene

GeneLoc Exon Structure for
KRTAP10-2
ECgene alternative splicing isoforms for
KRTAP10-2

Expression for KRTAP10-2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KRTAP10-2 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP10-2 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x47.3) and Skin - Sun Exposed (Lower leg) (x5.2).

SOURCE GeneReport for Unigene cluster for KRTAP10-2 Gene:

Hs.664660

mRNA Expression by UniProt/SwissProt for KRTAP10-2 Gene:

P60368-KR102_HUMAN
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.

Evidence on tissue expression from TISSUES for KRTAP10-2 Gene

  • Skin(4)
genes like me logo Genes that share expression patterns with KRTAP10-2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRTAP10-2 Gene

Orthologs for KRTAP10-2 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRTAP10-2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRTAP10-2 35
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm3250 35
  • 57 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia -- 35
  • 54 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 47 (a)
ManyToMany
-- 35
  • 28 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 35
  • 46 (a)
ManyToMany
Species where no ortholog for KRTAP10-2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for KRTAP10-2 Gene

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

Paralogs for KRTAP10-2 Gene

(9) SIMAP similar genes for KRTAP10-2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KRTAP10-2: view

Variants for KRTAP10-2 Gene

Sequence variations from dbSNP and Humsavar for KRTAP10-2 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs1000174785 -- 44,553,115(+) AGGTC(A/G)GAGCA intron-variant, upstream-variant-2KB
rs1005461429 -- 44,552,271(+) AAAGC(C/T)AGCCT intron-variant, upstream-variant-2KB
rs1008861500 -- 44,552,359(+) GGCCT(C/G)AGCCC intron-variant, upstream-variant-2KB
rs1009018611 -- 44,552,525(+) CCTGT(C/T)ATAGC intron-variant, upstream-variant-2KB
rs1011285398 -- 44,552,804(+) TGGGG(C/T)CTCCA intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for KRTAP10-2 Gene

Variant ID Type Subtype PubMed ID
dgv4435n100 CNV gain 25217958
esv2723638 CNV deletion 23290073
esv2723673 CNV deletion 23290073
esv33817 CNV loss 17666407
esv3647132 CNV gain 21293372
esv7169 OTHER inversion 19470904
nsv1055163 CNV gain 25217958
nsv587803 CNV loss 21841781

Variation tolerance for KRTAP10-2 Gene

Residual Variation Intolerance Score: 89.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.77; 89.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRTAP10-2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP10-2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP10-2 Gene

Disorders for KRTAP10-2 Gene

Relevant External Links for KRTAP10-2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRTAP10-2

No disorders were found for KRTAP10-2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP10-2 Gene

Publications for KRTAP10-2 Gene

  1. Hair keratin associated proteins: characterization of a second high sulfur KAP gene domain on human chromosome 21. (PMID: 14962103) Rogers M.A. … Schweizer J. (J. Invest. Dermatol. 2004) 3 4 64
  2. A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3. (PMID: 15028290) Shibuya K. … Shimizu N. (Genomics 2004) 3 4 64
  3. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M. … Yaspo M.-L. (Nature 2000) 3 4 64
  4. Characterization of a first domain of human high glycine-tyrosine and high sulfur keratin-associated protein (KAP) genes on chromosome 21q22.1. (PMID: 12359730) Rogers M.A. … Schweizer J. (J. Biol. Chem. 2002) 3 64

Products for KRTAP10-2 Gene

Sources for KRTAP10-2 Gene

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