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Aliases for KRTAP2-3 Gene

Aliases for KRTAP2-3 Gene

  • Keratin Associated Protein 2-3 2 3 5
  • High Sulfur Keratin-Associated Protein 2.4 3 4
  • Keratin-Associated Protein 2.3 3 4
  • KRTAP2.3 3 4
  • KAP2.3 3 4
  • Keratin-Associated Protein 2-3 3

External Ids for KRTAP2-3 Gene

Previous GeneCards Identifiers for KRTAP2-3 Gene

  • GC17U990278
  • GC17M036483
  • GC17M039202
  • GC17M039215

Summaries for KRTAP2-3 Gene

GeneCards Summary for KRTAP2-3 Gene

KRTAP2-3 (Keratin Associated Protein 2-3) is a Protein Coding gene. Among its related pathways are Keratinization and Developmental Biology. An important paralog of this gene is KRTAP2-4.

UniProtKB/Swiss-Prot for KRTAP2-3 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 (By similarity).

Additional gene information for KRTAP2-3 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 KRTAP2-3 Gene

Genomics for KRTAP2-3 Gene

Regulatory Elements for KRTAP2-3 Gene

Enhancers for KRTAP2-3 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
GH17H040948 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10 +105.4 105401 11 PKNOX1 FOXA2 ATF1 MLX ZFP64 ARID4B DMAP1 TCF12 SLC30A9 ZNF143 KRTAP3-2 KRT23 KRTAP2-1 KRT39 KRT40 KRTAP2-2 ENSG00000234477 KRTAP3-3 KRTAP1-5 KRTAP3-1
GH17H041058 1.4 Ensembl ENCODE dbSUPER 5.4 -0.9 -933 5 ELF3 FOXA2 RAD21 ZSCAN9 RARA FOS CREM MIXL1 THAP11 HMG20B KRTAP1-3 KRTAP1-4 KRTAP1-5 KRTAP2-3 KRT38 KRT27 KRTAP2-4
GH17H040963 0.6 dbSUPER 10 +96.0 96046 1 CTCF GATA3 IRF2 SMC3 RAD21 HOMEZ KRT23 KRT40 KRTAP3-2 KRTAP2-1 KRTAP2-2 KRTAP3-3 ENSG00000234477 KRTAP1-5 KRTAP2-3 KRTAP4-6
GH17H041131 0.5 ENCODE 10.6 -72.0 -71965 1 JUND JUNB FOS ETV6 BATF KRTAP2-3 KRTAP4-4 KRTAP4-3 KRTAP1-4 KRTAP1-5 KRTAP4-6 ENSG00000266208 GC17P041125
GH17H041133 0.4 ENCODE 10.6 -74.2 -74214 1 FOXA2 KRTAP2-3 KRTAP4-4 KRTAP4-3 KRTAP1-4 KRTAP1-5 KRT34 KRTAP4-6 ENSG00000266208 GC17P041125
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KRTAP2-3 on UCSC Golden Path with GeneCards custom track

Genomic Location for KRTAP2-3 Gene

Chromosome:
17
Start:
41,059,240 bp from pter
End:
41,060,114 bp from pter
Size:
875 bases
Orientation:
Minus strand

Genomic View for KRTAP2-3 Gene

Genes around KRTAP2-3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP2-3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP2-3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP2-3 Gene

Proteins for KRTAP2-3 Gene

  • Protein details for KRTAP2-3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0C7H8-KRA23_HUMAN
    Recommended name:
    Keratin-associated protein 2-3
    Protein Accession:
    P0C7H8

    Protein attributes for KRTAP2-3 Gene

    Size:
    128 amino acids
    Molecular mass:
    13480 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP2-3 Gene

Post-translational modifications for KRTAP2-3 Gene

No Post-translational modifications

Other Protein References for KRTAP2-3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP2-3 Gene

Domains & Families for KRTAP2-3 Gene

Gene Families for KRTAP2-3 Gene

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

Protein Domains for KRTAP2-3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP2-3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P0C7H8

UniProtKB/Swiss-Prot:

KRA23_HUMAN :
  • Belongs to the KRTAP type 2 family.
Family:
  • Belongs to the KRTAP type 2 family.
genes like me logo Genes that share domains with KRTAP2-3: view

Function for KRTAP2-3 Gene

Molecular function for KRTAP2-3 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 (By similarity).

Gene Ontology (GO) - Molecular Function for KRTAP2-3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with KRTAP2-3: view

Phenotypes for KRTAP2-3 Gene

GenomeRNAi human phenotypes for KRTAP2-3:
genes like me logo Genes that share phenotypes with KRTAP2-3: view

Animal Model Products

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for KRTAP2-3
  • 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 KRTAP2-3 Gene

Localization for KRTAP2-3 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 KRTAP2-3 gene
Compartment Confidence
cytosol 5
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for KRTAP2-3 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 KRTAP2-3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP2-3 Gene

Pathways & Interactions for KRTAP2-3 Gene

SuperPathways for KRTAP2-3 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRTAP2-3: view

Pathways by source for KRTAP2-3 Gene

2 Reactome pathways for KRTAP2-3 Gene

Gene Ontology (GO) - Biological Process for KRTAP2-3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP2-3: view

No data available for SIGNOR curated interactions for KRTAP2-3 Gene

Drugs & Compounds for KRTAP2-3 Gene

No Compound Related Data Available

Transcripts for KRTAP2-3 Gene

mRNA/cDNA for KRTAP2-3 Gene

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

Unigene Clusters for KRTAP2-3 Gene

Keratin associated protein 2-3:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for KRTAP2-3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP2-3 Gene

No ASD Table

Relevant External Links for KRTAP2-3 Gene

GeneLoc Exon Structure for
KRTAP2-3
ECgene alternative splicing isoforms for
KRTAP2-3

Expression for KRTAP2-3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KRTAP2-3 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP2-3 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x46.7).

SOURCE GeneReport for Unigene cluster for KRTAP2-3 Gene:

Hs.406714

Evidence on tissue expression from TISSUES for KRTAP2-3 Gene

  • Skin(4)
genes like me logo Genes that share expression patterns with KRTAP2-3: 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 KRTAP2-3 Gene

Orthologs for KRTAP2-3 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRTAP2-3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC468246 33
  • 98.96 (n)
-- 34
  • 98 (a)
OneToMany
cow
(Bos Taurus)
Mammalia LOC777598 33
  • 88.53 (n)
-- 34
  • 85 (a)
ManyToMany
-- 34
  • 82 (a)
ManyToMany
-- 34
  • 81 (a)
ManyToMany
-- 34
  • 81 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia LOC102157302 33
  • 87.24 (n)
mouse
(Mus musculus)
Mammalia Krtap2-4 33 34
  • 85.83 (n)
Gm11937 34
  • 85 (a)
ManyToMany
Gm11938 34
  • 85 (a)
ManyToMany
Gm11562 34
  • 82 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia RGD1561684 33
  • 85.71 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 49 (a)
ManyToMany
-- 34
  • 24 (a)
ManyToMany
Species where no ortholog for KRTAP2-3 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 KRTAP2-3 Gene

ENSEMBL:
Gene Tree for KRTAP2-3 (if available)
TreeFam:
Gene Tree for KRTAP2-3 (if available)

Paralogs for KRTAP2-3 Gene

Paralogs for KRTAP2-3 Gene

(4) SIMAP similar genes for KRTAP2-3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KRTAP2-3: view

Variants for KRTAP2-3 Gene

Structural Variations from Database of Genomic Variants (DGV) for KRTAP2-3 Gene

Variant ID Type Subtype PubMed ID
dgv127n111 CNV deletion 26073780
dgv5591n54 CNV loss 21841781
dgv5592n54 CNV loss 21841781
dgv5593n54 CNV loss 21841781
dgv5594n54 CNV loss 21841781
dgv5595n54 CNV loss 21841781
dgv919e212 CNV loss 25503493
dgv920e212 CNV loss 25503493
esv2751681 CNV loss 17911159
esv2760468 CNV gain+loss 21179565
esv2762466 CNV loss 21179565
esv3554418 CNV deletion 23714750
esv3582654 CNV loss 25503493
esv3582657 CNV loss 25503493
esv3640559 CNV gain 21293372
esv3640568 CNV loss 21293372
esv3640569 CNV gain 21293372
nsv1055383 CNV gain 25217958
nsv1060512 CNV loss 25217958
nsv1118594 CNV duplication 24896259
nsv1146669 OTHER inversion 26484159
nsv575002 CNV loss 21841781
nsv575016 CNV loss 21841781
nsv833446 CNV gain 17160897
nsv9550 CNV loss 18304495

Variation tolerance for KRTAP2-3 Gene

Gene Damage Index Score: 14.07; 96.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRTAP2-3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP2-3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations from dbSNP and Humsavar for KRTAP2-3 Gene

Disorders for KRTAP2-3 Gene

Relevant External Links for KRTAP2-3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRTAP2-3

No disorders were found for KRTAP2-3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP2-3 Gene

Publications for KRTAP2-3 Gene

  1. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody MC … Nusbaum C (Nature 2006) 3 4 60
  2. 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) 3 4 60
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 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
  5. The sequence of the human genome. (PMID: 11181995) Venter JC … Zhu X (Science (New York, N.Y.) 2001) 3 60

Products for KRTAP2-3 Gene

Sources for KRTAP2-3 Gene

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