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 s... See more...

Aliases for KRTAP4-2 Gene

Aliases for KRTAP4-2 Gene

  • Keratin Associated Protein 4-2 2 3 5
  • KAP4.2 2 3 4
  • Ultrahigh Sulfur Keratin-Associated Protein 4.2 3 4
  • Keratin-Associated Protein 4-2 3 4
  • Keratin-Associated Protein 4.2 3 4
  • KRTAP4.2 3 4
  • KRTAP4-2 5

External Ids for KRTAP4-2 Gene

Previous GeneCards Identifiers for KRTAP4-2 Gene

  • GC17M038918
  • GC17M041438
  • GC17M039242
  • GC17M039706
  • GC17M036587
  • GC17M039333
  • GC17M035108

Summaries for KRTAP4-2 Gene

Entrez Gene Summary for KRTAP4-2 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 KRTAP4-2 Gene

KRTAP4-2 (Keratin Associated Protein 4-2) is a Protein Coding gene. Among its related pathways are Developmental Biology and Keratinization. An important paralog of this gene is KRTAP4-12.

UniProtKB/Swiss-Prot Summary for KRTAP4-2 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 , Rfam classification and piRNA Summary for KRTAP4-2 Gene

Genomics for KRTAP4-2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KRTAP4-2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J041178 Enhancer 0.6 Ensembl ENCODE 250.7 -0.3 -262 1.5 ZIC2 SCRT1 SCRT2 KRTAP4-2 KRT38 KRT32 KRTAP4-1 lnc-KRTAP9-7-5
GH17J041175 Enhancer 0.5 Ensembl 250.7 +1.7 1720 2.2 BCL11A IRF4 BATF JUNB IKZF1 SPI1 IKZF2 RUNX3 KRTAP4-2 KRT38 KRTAP4-6 KRT31 KRTAP4-3 lnc-KRTAP9-7-5
GH17J041333 Enhancer 0.9 Ensembl ENCODE dbSUPER 9.8 -160.7 -160667 10.2 MAFF EBF1 YBX1 BHLHE40 SPI1 ZNF416 ZNF24 NRF1 PKNOX1 MTA2 HSALNG0116426 KRT34 KRT38 KRT32 KRTAP16-1 KRTAP29-1 KRT31 LOC100505782 KRTAP17-1 KRTAP9-6
GH17J041211 Enhancer 0.6 Ensembl 11.5 -34.3 -34320 1.5 ZIC2 PRDM6 JUND SCRT1 MNT ZNF629 NFE2L2 FOS MAFK RFX5 KRTAP9-12P lnc-KRTAP9-2-1 KRTAP4-17P KRTAP9-1 KRTAP4-1 KRTAP4-2 KRTAP4-3 KRTAP4-4 KRTAP9-6 KRTAP2-5P
GH17J041207 Promoter 0.3 EPDnew 11.5 -29.2 -29154 0.1 KRTAP4-1 piR-33432-228 piR-57176-269 KRTAP4-2 KRTAP4-3 KRTAP4-4 KRTAP2-2 KRTAP2-1 KRTAP2-5P KRTAP2-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRTAP4-2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRTAP4-2

Top Transcription factor binding sites by QIAGEN in the KRTAP4-2 gene promoter:
  • aMEF-2
  • GR
  • GR-alpha
  • GR-beta
  • ITF-2
  • MEF-2A
  • MyoD
  • RP58
  • Tal-1beta

Genomic Locations for KRTAP4-2 Gene

Latest Assembly
chr17:41,177,446-41,178,221
(GRCh38/hg38)
Size:
776 bases
Orientation:
Minus strand

Previous Assembly
chr17:39,333,698-39,334,473
(GRCh37/hg19 by Entrez Gene)
Size:
776 bases
Orientation:
Minus strand

chr17:39,333,698-39,334,460
(GRCh37/hg19 by Ensembl)
Size:
763 bases
Orientation:
Minus strand

Genomic View for KRTAP4-2 Gene

Genes around KRTAP4-2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP4-2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP4-2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP4-2 Gene

Proteins for KRTAP4-2 Gene

  • Protein details for KRTAP4-2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYR5-KRA42_HUMAN
    Recommended name:
    Keratin-associated protein 4-2
    Protein Accession:
    Q9BYR5
    Secondary Accessions:
    • A0JP64

    Protein attributes for KRTAP4-2 Gene

    Size:
    136 amino acids
    Molecular mass:
    14462 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP4-2 Gene

Post-translational modifications for KRTAP4-2 Gene

No Post-translational modifications

Other Protein References for KRTAP4-2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP4-2 Gene

Domains & Families for KRTAP4-2 Gene

Gene Families for KRTAP4-2 Gene

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

Protein Domains for KRTAP4-2 Gene

InterPro:
Blocks:
  • TNFR/CD27/30/40/95 cysteine-rich region

Suggested Antigen Peptide Sequences for KRTAP4-2 Gene

GenScript: Design optimal peptide antigens:
  • Ultrahigh sulfur keratin-associated protein 4.2 (KRA42_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BYR5

UniProtKB/Swiss-Prot:

KRA42_HUMAN :
  • Belongs to the KRTAP type 4 family.
Family:
  • Belongs to the KRTAP type 4 family.
genes like me logo Genes that share domains with KRTAP4-2: view

Function for KRTAP4-2 Gene

Molecular function for KRTAP4-2 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.

Phenotypes From GWAS Catalog for KRTAP4-2 Gene

Gene Ontology (GO) - Molecular Function for KRTAP4-2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0042802 identical protein binding IPI 32296183
genes like me logo Genes that share ontologies with KRTAP4-2: view
genes like me logo Genes that share phenotypes with KRTAP4-2: view

miRNA for KRTAP4-2 Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP4-2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KRTAP4-2 Gene

Localization for KRTAP4-2 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 KRTAP4-2 gene
Compartment Confidence
cytosol 4
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for KRTAP4-2 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 KRTAP4-2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP4-2 Gene

Pathways & Interactions for KRTAP4-2 Gene

PathCards logo

SuperPathways for KRTAP4-2 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRTAP4-2: view

Pathways by source for KRTAP4-2 Gene

2 Reactome pathways for KRTAP4-2 Gene

Gene Ontology (GO) - Biological Process for KRTAP4-2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP4-2: view

No data available for SIGNOR curated interactions for KRTAP4-2 Gene

Drugs & Compounds for KRTAP4-2 Gene

No Compound Related Data Available

Transcripts for KRTAP4-2 Gene

mRNA/cDNA for KRTAP4-2 Gene

1 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP4-2

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP4-2 Gene

No ASD Table

Relevant External Links for KRTAP4-2 Gene

GeneLoc Exon Structure for
KRTAP4-2

Expression for KRTAP4-2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRTAP4-2 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP4-2 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x48.6) and Skin - Sun Exposed (Lower leg) (x4.3).

Protein differential expression in normal tissues from HIPED for KRTAP4-2 Gene

This gene is overexpressed in Fetal heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KRTAP4-2 Gene



Protein tissue co-expression partners for KRTAP4-2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRTAP4-2

SOURCE GeneReport for Unigene cluster for KRTAP4-2 Gene:

Hs.380165

Evidence on tissue expression from TISSUES for KRTAP4-2 Gene

  • Skin(4)
genes like me logo Genes that share expression patterns with KRTAP4-2: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRTAP4-2 Gene

Orthologs for KRTAP4-2 Gene

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

Orthologs for KRTAP4-2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LOC101059050 29
  • 96.08 (n)
KRTAP4-2 30
  • 50 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Krtap4-13 30
  • 56 (a)
OneToMany
Gm11596 30
  • 54 (a)
OneToMany
Gm11569 30
  • 52 (a)
OneToMany
Krtap4-8 30
  • 52 (a)
OneToMany
Gm11554 30
  • 51 (a)
OneToMany
Gm11564 30
  • 50 (a)
OneToMany
Krtap4-6 30
  • 49 (a)
OneToMany
Krtap4-9 30
  • 43 (a)
OneToMany
Gm11595 30
  • 37 (a)
OneToMany
Species where no ortholog for KRTAP4-2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 Vase (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 KRTAP4-2 Gene

ENSEMBL:
Gene Tree for KRTAP4-2 (if available)
TreeFam:
Gene Tree for KRTAP4-2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRTAP4-2: view image
Alliance of Genome Resources:
Additional Orthologs for KRTAP4-2

Paralogs for KRTAP4-2 Gene

Pseudogenes.org Pseudogenes for KRTAP4-2 Gene

genes like me logo Genes that share paralogs with KRTAP4-2: view

Variants for KRTAP4-2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRTAP4-2 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs389784 -- p.Tyr95Cys

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KRTAP4-2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for KRTAP4-2 Gene

Variant ID Type Subtype PubMed ID
esv2758690 CNV gain+loss 17122850
nsv1146669 OTHER inversion 26484159
nsv833446 CNV gain 17160897

Variation tolerance for KRTAP4-2 Gene

Residual Variation Intolerance Score: 75.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.89; 18.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRTAP4-2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP4-2
Leiden Open Variation Database (LOVD)
KRTAP4-2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP4-2 Gene

Disorders for KRTAP4-2 Gene

Additional Disease Information for KRTAP4-2

No disorders were found for KRTAP4-2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP4-2 Gene

Publications for KRTAP4-2 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
  2. 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) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. (PMID: 31515488) Fragoza R … Yu H (Nature communications 2019) 3
  5. Regulation of ETAA1-mediated ATR activation couples DNA replication fidelity and genome stability. (PMID: 31615875) Achuthankutty D … Mailand N (The Journal of cell biology 2019) 3

Products for KRTAP4-2 Gene

Sources for KRTAP4-2 Gene