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Aliases for KRTAP9-2 Gene

Aliases for KRTAP9-2 Gene

  • Keratin Associated Protein 9-2 2 3 5
  • Ultrahigh Sulfur Keratin-Associated Protein 9.2 3 4
  • Keratin-Associated Protein 9.2 3 4
  • KRTAP9.2 3 4
  • KAP9.2 3 4
  • Keratin-Associated Protein 9-2 3

External Ids for KRTAP9-2 Gene

Previous GeneCards Identifiers for KRTAP9-2 Gene

  • GC17U990250
  • GC17P041487
  • GC17P039291
  • GC17P039757
  • GC17P039722
  • GC17P036636
  • GC17P035157
  • GC17P039383
  • GC17P041190
  • GC17P041227

Summaries for KRTAP9-2 Gene

Entrez Gene Summary for KRTAP9-2 Gene

  • This protein is 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 protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

GeneCards Summary for KRTAP9-2 Gene

KRTAP9-2 (Keratin Associated Protein 9-2) is a Protein Coding gene. Among its related pathways are Keratinization and Developmental Biology. An important paralog of this gene is KRTAP9-9.

UniProtKB/Swiss-Prot for KRTAP9-2 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.

Additional gene information for KRTAP9-2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRTAP9-2 Gene

Genomics for KRTAP9-2 Gene

Regulatory Elements for KRTAP9-2 Gene

Enhancers for KRTAP9-2 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
GH17H040528 2 FANTOM5 Ensembl ENCODE dbSUPER 14.6 -690.0 -690042 15 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A ZNF2 YY1 SLC30A9 ZNF766 SMARCE1 IGFBP4 RARA MED24 CCR7 SNORD124 LOC105371776 KRTAP9-2 TOP2A RPL23AP75
GH17H040455 1.7 FANTOM5 Ensembl ENCODE dbSUPER 14.6 -766.0 -766035 9 NFIB ARNT ZSCAN4 THRB RARA YY1 ETS1 ZNF207 RCOR1 SMARCA5 CDC6 LOC105371776 KRTAP9-2 RPL23AP75 TNS4 GJD3 TOP2A KRT23 ENSG00000266208 IGFBP4
GH17H041687 1.7 Ensembl ENCODE dbSUPER 14.6 +463.8 463751 6 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZFP41 ENSG00000267758 ENSG00000259623 KLHL10 CNTNAP1 HSD17B1 NT5C3B KAT2A KLHL11 ACLY TMEM99
GH17H041647 1.5 Ensembl ENCODE dbSUPER 14.6 +421.8 421848 2 HDGF ARID4B SIN3A GLI4 ZNF121 GLIS2 ZNF143 REST MIER2 ZNF592 KRTAP9-2 LOC105371776 RETREG3 DHX58 ENSG00000236194 HAP1 KRT42P ENSG00000278954
GH17H040646 1.3 ENCODE dbSUPER 14.6 -578.7 -578718 2 HDGF MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 SMARCE1 LOC105371776 KRTAP9-2 PGAP3 MSL1 MED24 ENSG00000278834 GC17P040641
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KRTAP9-2 on UCSC Golden Path with GeneCards custom track

Genomic Location for KRTAP9-2 Gene

Chromosome:
17
Start:
41,226,648 bp from pter
End:
41,227,652 bp from pter
Size:
1,005 bases
Orientation:
Plus strand

Genomic View for KRTAP9-2 Gene

Genes around KRTAP9-2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP9-2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP9-2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP9-2 Gene

Proteins for KRTAP9-2 Gene

  • Protein details for KRTAP9-2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYQ4-KRA92_HUMAN
    Recommended name:
    Keratin-associated protein 9-2
    Protein Accession:
    Q9BYQ4
    Secondary Accessions:
    • Q17RK8
    • Q2TB15
    • Q6ISF6

    Protein attributes for KRTAP9-2 Gene

    Size:
    174 amino acids
    Molecular mass:
    18287 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP9-2 Gene

Post-translational modifications for KRTAP9-2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRTAP9-2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP9-2 Gene

Domains & Families for KRTAP9-2 Gene

Gene Families for KRTAP9-2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for KRTAP9-2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP9-2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BYQ4

UniProtKB/Swiss-Prot:

KRA92_HUMAN :
  • Belongs to the KRTAP type 9 family.
Family:
  • Belongs to the KRTAP type 9 family.
genes like me logo Genes that share domains with KRTAP9-2: view

Function for KRTAP9-2 Gene

Molecular function for KRTAP9-2 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.

Gene Ontology (GO) - Molecular Function for KRTAP9-2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0042802 identical protein binding IPI 25416956
genes like me logo Genes that share ontologies with KRTAP9-2: view
genes like me logo Genes that share phenotypes with KRTAP9-2: view

Animal Model Products

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for KRTAP9-2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRTAP9-2 Gene

Localization for KRTAP9-2 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 KRTAP9-2 gene
Compartment Confidence
cytosol 5
extracellular 2
cytoskeleton 2
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for KRTAP9-2 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 KRTAP9-2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP9-2 Gene

Pathways & Interactions for KRTAP9-2 Gene

SuperPathways for KRTAP9-2 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRTAP9-2: view

Pathways by source for KRTAP9-2 Gene

2 Reactome pathways for KRTAP9-2 Gene

Gene Ontology (GO) - Biological Process for KRTAP9-2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP9-2: view

No data available for SIGNOR curated interactions for KRTAP9-2 Gene

Drugs & Compounds for KRTAP9-2 Gene

No Compound Related Data Available

Transcripts for KRTAP9-2 Gene

mRNA/cDNA for KRTAP9-2 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KRTAP9-2 Gene

Keratin associated protein 9-2:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for KRTAP9-2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP9-2 Gene

No ASD Table

Relevant External Links for KRTAP9-2 Gene

GeneLoc Exon Structure for
KRTAP9-2
ECgene alternative splicing isoforms for
KRTAP9-2

Expression for KRTAP9-2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KRTAP9-2 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP9-2 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x48.9) and Skin - Sun Exposed (Lower leg) (x4.1).

SOURCE GeneReport for Unigene cluster for KRTAP9-2 Gene:

Hs.307013

Evidence on tissue expression from TISSUES for KRTAP9-2 Gene

  • Skin(4)
genes like me logo Genes that share expression patterns with KRTAP9-2: 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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRTAP9-2 Gene

Orthologs for KRTAP9-2 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRTAP9-2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 34
  • 96 (a)
OneToMany
KRTAP9-2 34
  • 95 (a)
OneToMany
cow
(Bos Taurus)
Mammalia KRTAP9-2 33
  • 84.28 (n)
-- 34
  • 48 (a)
ManyToMany
KRTAP9-1 34
  • 42 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Krtap9-1 34
  • 55 (a)
ManyToMany
Gm11559 34
  • 53 (a)
ManyToMany
Gm11567 34
  • 52 (a)
ManyToMany
Gm11568 34
  • 49 (a)
ManyToMany
Species where no ortholog for KRTAP9-2 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)
  • dog (Canis familiaris)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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 KRTAP9-2 Gene

ENSEMBL:
Gene Tree for KRTAP9-2 (if available)
TreeFam:
Gene Tree for KRTAP9-2 (if available)

Paralogs for KRTAP9-2 Gene

Paralogs for KRTAP9-2 Gene

(9) SIMAP similar genes for KRTAP9-2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with KRTAP9-2: view

Variants for KRTAP9-2 Gene

Sequence variations from dbSNP and Humsavar for KRTAP9-2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000453506 -- 41,224,716(+) CTTCA(C/T)TGTTT upstream-variant-2KB
rs1000588471 -- 41,224,956(+) TTGGG(C/G)ACAGA upstream-variant-2KB
rs1000856489 -- 41,225,567(+) AGGAA(G/T)AGAAC upstream-variant-2KB
rs1002262875 -- 41,226,126(+) TGGAA(C/T)AGTTT upstream-variant-2KB
rs1004344091 -- 41,226,093(+) CCTAG(G/T)GAGTG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for KRTAP9-2 Gene

Variant ID Type Subtype PubMed ID
esv25995 CNV loss 19812545
esv2664202 CNV deletion 23128226
esv2758690 CNV gain+loss 17122850
esv987726 CNV deletion 20482838
nsv1146669 OTHER inversion 26484159
nsv1160473 CNV duplication 26073780
nsv2049 CNV deletion 18451855
nsv436228 CNV deletion 17901297
nsv498870 CNV loss 21111241
nsv510710 CNV deletion 20534489
nsv833446 CNV gain 17160897
nsv9551 CNV loss 18304495
nsv960486 CNV duplication 23825009

Variation tolerance for KRTAP9-2 Gene

Residual Variation Intolerance Score: 78.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.53; 55.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRTAP9-2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP9-2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP9-2 Gene

Disorders for KRTAP9-2 Gene

Relevant External Links for KRTAP9-2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRTAP9-2

No disorders were found for KRTAP9-2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP9-2 Gene

Publications for KRTAP9-2 Gene

  1. Characterization of a cluster of human high/ultrahigh sulfur keratin-associated protein genes embedded in the type I keratin gene domain on chromosome 17q12-21. (PMID: 11279113) Rogers MA … Schweizer J (The Journal of biological chemistry 2001) 2 3 4 60
  2. Quantitative Proteomics Reveals Dynamic Interactions of the Minichromosome Maintenance Complex (MCM) in the Cellular Response to Etoposide Induced DNA Damage. (PMID: 25963833) Drissi R … Boisvert FM (Molecular & cellular proteomics : MCP 2015) 3 60
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 60
  4. The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease. (PMID: 24705354) Butland SL … Hayden MR (Human molecular genetics 2014) 3 60
  5. Large-scale mapping of human protein-protein interactions by mass spectrometry. (PMID: 17353931) Ewing RM … Figeys D (Molecular systems biology 2007) 3 60

Products for KRTAP9-2 Gene

Sources for KRTAP9-2 Gene

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