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Aliases for KRTAP5-2 Gene

Aliases for KRTAP5-2 Gene

  • Keratin Associated Protein 5-2 2 3 5
  • Ultrahigh Sulfur Keratin-Associated Protein 5.2 3 4
  • Keratin-Associated Protein 5-8 3 4
  • Keratin-Associated Protein 5.2 3 4
  • Keratin-Associated Protein 5.8 3 4
  • KRTAP5-8 3 4
  • KRTAP5.2 3 4
  • Keratin-Associated Protein 5-2 3
  • KRTAP5.8 4
  • KAP5-8 4
  • KAP5.2 4

External Ids for KRTAP5-2 Gene

Previous GeneCards Identifiers for KRTAP5-2 Gene

  • GC00U913938
  • GC11M001574
  • GC11M001618
  • GC11M001411

Summaries for KRTAP5-2 Gene

GeneCards Summary for KRTAP5-2 Gene

KRTAP5-2 (Keratin Associated Protein 5-2) is a Protein Coding gene. Among its related pathways are Keratinization and Developmental Biology.

UniProtKB/Swiss-Prot for KRTAP5-2 Gene

  • In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (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 KRTAP5-2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRTAP5-2 Gene

Genomics for KRTAP5-2 Gene

Regulatory Elements for KRTAP5-2 Gene

Enhancers for KRTAP5-2 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
GH11H001556 1.4 Ensembl ENCODE dbSUPER 11.7 +39.6 39563 4 NFIB SIN3A KLF17 YY1 GLIS2 RCOR1 FOS EGR2 USF2 CEBPB KRTAP5-AS1 MOB2 KRTAP5-1 KRTAP5-2 GC11M001556 GC11M001565
GH11H001567 1.2 ENCODE dbSUPER 13 +27.3 27292 7 PKNOX1 ATF1 ZFP64 SIN3A ZNF2 ZNF766 GLIS2 ZNF143 FOS ATF7 KRTAP5-AS1 KRTAP5-2 KRTAP5-5 MOB2 GC11M001565
GH11H001564 1 ENCODE dbSUPER 13 +33.6 33581 1 PKNOX1 ATF1 ZBTB21 JUN ZNF140 GLIS2 POLR2A NFYB PATZ1 FOS KRTAP5-AS1 TMEM80 PIDD1 KRTAP5-2 PHRF1 KRTAP5-5 ENSG00000255142 ENSG00000255158 GC11M001565 GC11M001556
GH11H001555 0.8 ENCODE dbSUPER 11.7 +43.9 43869 0 CTCF GLIS2 SP3 GLIS1 KLF9 RAD21 KRTAP5-1 KRTAP5-2 MOB2 LOC101927562 GC11P001533
GH11H001561 0.5 dbSUPER 13 +35.8 35812 2 KLF1 ZSCAN4 KDM1A PAX8 KRTAP5-AS1 KRTAP5-2 KRTAP5-5 MOB2 GC11M001556 GC11M001565
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KRTAP5-2 on UCSC Golden Path with GeneCards custom track

Genomic Location for KRTAP5-2 Gene

Chromosome:
11
Start:
1,597,177 bp from pter
End:
1,598,294 bp from pter
Size:
1,118 bases
Orientation:
Minus strand

Genomic View for KRTAP5-2 Gene

Genes around KRTAP5-2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP5-2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP5-2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP5-2 Gene

Proteins for KRTAP5-2 Gene

  • Protein details for KRTAP5-2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q701N4-KRA52_HUMAN
    Recommended name:
    Keratin-associated protein 5-2
    Protein Accession:
    Q701N4
    Secondary Accessions:
    • A9JTZ1

    Protein attributes for KRTAP5-2 Gene

    Size:
    177 amino acids
    Molecular mass:
    16271 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP5-2 Gene

Post-translational modifications for KRTAP5-2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRTAP5-2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP5-2 Gene

Domains & Families for KRTAP5-2 Gene

Gene Families for KRTAP5-2 Gene

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

Protein Domains for KRTAP5-2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP5-2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q701N4

UniProtKB/Swiss-Prot:

KRA52_HUMAN :
  • Belongs to the KRTAP type 5 family.
Family:
  • Belongs to the KRTAP type 5 family.
genes like me logo Genes that share domains with KRTAP5-2: view

Function for KRTAP5-2 Gene

Molecular function for KRTAP5-2 Gene

UniProtKB/Swiss-Prot Function:
In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (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 KRTAP5-2: view

Animal Model Products

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for KRTAP5-2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRTAP5-2 Gene

Localization for KRTAP5-2 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 KRTAP5-2 gene
Compartment Confidence
cytosol 5
extracellular 2
cytoskeleton 2
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for KRTAP5-2 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 KRTAP5-2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP5-2 Gene

Pathways & Interactions for KRTAP5-2 Gene

SuperPathways for KRTAP5-2 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRTAP5-2: view

Pathways by source for KRTAP5-2 Gene

2 Reactome pathways for KRTAP5-2 Gene

Gene Ontology (GO) - Biological Process for KRTAP5-2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP5-2: view

No data available for SIGNOR curated interactions for KRTAP5-2 Gene

Drugs & Compounds for KRTAP5-2 Gene

(2) Drugs for KRTAP5-2 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Beta-D-Glucose Experimental Pharma Target 0
Pidolic Acid Experimental Pharma Target 0
genes like me logo Genes that share compounds with KRTAP5-2: view

Transcripts for KRTAP5-2 Gene

mRNA/cDNA for KRTAP5-2 Gene

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

Unigene Clusters for KRTAP5-2 Gene

Keratin associated protein 5-2:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for KRTAP5-2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP5-2 Gene

No ASD Table

Relevant External Links for KRTAP5-2 Gene

GeneLoc Exon Structure for
KRTAP5-2
ECgene alternative splicing isoforms for
KRTAP5-2

Expression for KRTAP5-2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KRTAP5-2 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP5-2 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x14.5), Brain - Cerebellar Hemisphere (x5.9), and Brain - Cerebellum (x4.2).

Protein differential expression in normal tissues from HIPED for KRTAP5-2 Gene

This gene is overexpressed in Brain (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KRTAP5-2 Gene



Protein tissue co-expression partners for KRTAP5-2 Gene

- Elite partner

SOURCE GeneReport for Unigene cluster for KRTAP5-2 Gene:

Hs.673618

mRNA Expression by UniProt/SwissProt for KRTAP5-2 Gene:

Q701N4-KRA52_HUMAN
Tissue specificity: Restricted to hair root, not detected in any other tissues.

Evidence on tissue expression from TISSUES for KRTAP5-2 Gene

  • Skin(4)
  • Nervous system(4)
genes like me logo Genes that share expression patterns with KRTAP5-2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRTAP5-2 Gene

Orthologs for KRTAP5-2 Gene

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

Orthologs for KRTAP5-2 Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Gm7579 34
  • 50 (a)
OneToMany
Species where no ortholog for KRTAP5-2 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)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • 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 KRTAP5-2 Gene

ENSEMBL:
Gene Tree for KRTAP5-2 (if available)
TreeFam:
Gene Tree for KRTAP5-2 (if available)

Paralogs for KRTAP5-2 Gene

No data available for Paralogs for KRTAP5-2 Gene

Variants for KRTAP5-2 Gene

Sequence variations from dbSNP and Humsavar for KRTAP5-2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000050507 -- 1,599,360(+) CAGCA(A/G)TCTCA downstream-variant-500B, upstream-variant-2KB
rs1003192389 -- 1,597,233(+) TGTTA(-/T)TTTTT intron-variant, utr-variant-3-prime
rs1004681179 -- 1,597,189(+) ACAGA(A/C)ATGAG intron-variant, utr-variant-3-prime
rs1005243444 -- 1,596,975(+) ATCCT(-/C)CCCCG intron-variant
rs1006639209 -- 1,600,087(+) TATTT(A/C)TCTTT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for KRTAP5-2 Gene

Variant ID Type Subtype PubMed ID
esv2761643 CNV gain 21179565
nsv1051627 CNV gain 25217958
nsv552999 CNV gain 21841781
nsv975871 CNV duplication 23825009

Variation tolerance for KRTAP5-2 Gene

Residual Variation Intolerance Score: 64.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.79; 66.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRTAP5-2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP5-2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP5-2 Gene

Disorders for KRTAP5-2 Gene

Relevant External Links for KRTAP5-2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRTAP5-2

No disorders were found for KRTAP5-2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP5-2 Gene

Publications for KRTAP5-2 Gene

  1. Identification of two novel clusters of ultrahigh-sulfur keratin-associated protein genes on human chromosome 11. (PMID: 15144888) Yahagi S … Shimizu N (Biochemical and biophysical research communications 2004) 2 3 4 60
  2. Expression of CK7, Cam 5.2 and Ber-Ep4 in cutaneous squamous cell carcinoma. (PMID: 23590728) Clarke LE … Helm KF (Journal of cutaneous pathology 2013) 3 60
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 60
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 60

Products for KRTAP5-2 Gene

Sources for KRTAP5-2 Gene

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