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Aliases for KRTAP12-2 Gene

Aliases for KRTAP12-2 Gene

  • Keratin Associated Protein 12-2 2 3 5
  • High Sulfur Keratin-Associated Protein 12.2 3 4
  • Keratin-Associated Protein 12.2 3 4
  • KRTAP12.2 3 4
  • KAP12.2 3 4

External Ids for KRTAP12-2 Gene

Previous GeneCards Identifiers for KRTAP12-2 Gene

  • GC21U900087
  • GC21M044942
  • GC21M044910
  • GC21M046086
  • GC21M031460

Summaries for KRTAP12-2 Gene

GeneCards Summary for KRTAP12-2 Gene

KRTAP12-2 (Keratin Associated Protein 12-2) is a Protein Coding gene. An important paralog of this gene is KRTAP12-3.

UniProtKB/Swiss-Prot for KRTAP12-2 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 Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRTAP12-2 Gene

Genomics for KRTAP12-2 Gene

Regulatory Elements for KRTAP12-2 Gene

Enhancers for KRTAP12-2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KRTAP12-2 on UCSC Golden Path with GeneCards custom track

Genomic Location for KRTAP12-2 Gene

Chromosome:
21
Start:
44,666,189 bp from pter
End:
44,666,927 bp from pter
Size:
739 bases
Orientation:
Minus strand

Genomic View for KRTAP12-2 Gene

Genes around KRTAP12-2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP12-2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP12-2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP12-2 Gene

Proteins for KRTAP12-2 Gene

  • Protein details for KRTAP12-2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P59991-KR122_HUMAN
    Recommended name:
    Keratin-associated protein 12-2
    Protein Accession:
    P59991
    Secondary Accessions:
    • A6NIS1
    • A6NMS9
    • Q0VAS4

    Protein attributes for KRTAP12-2 Gene

    Size:
    146 amino acids
    Molecular mass:
    14689 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP12-2 Gene

Proteomics data for KRTAP12-2 Gene at MOPED

Post-translational modifications for KRTAP12-2 Gene

No Post-translational modifications

Other Protein References for KRTAP12-2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP12-2 Gene

Domains & Families for KRTAP12-2 Gene

Gene Families for KRTAP12-2 Gene

Protein Domains for KRTAP12-2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP12-2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P59991

UniProtKB/Swiss-Prot:

KR122_HUMAN :
  • Belongs to the KRTAP type 12 family.
Family:
  • Belongs to the KRTAP type 12 family.
genes like me logo Genes that share domains with KRTAP12-2: view

Function for KRTAP12-2 Gene

Molecular function for KRTAP12-2 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 for KRTAP12-2 Gene

genes like me logo Genes that share phenotypes with KRTAP12-2: view

Animal Model Products

CRISPR Products

miRNA for KRTAP12-2 Gene

miRTarBase miRNAs that target KRTAP12-2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KRTAP12-2 Gene

Localization for KRTAP12-2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KRTAP12-2 Gene COMPARTMENTS Subcellular localization image for KRTAP12-2 gene
Compartment Confidence
extracellular 3
cytoskeleton 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for KRTAP12-2 Gene

Pathways & Interactions for KRTAP12-2 Gene

SuperPathways for KRTAP12-2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KRTAP12-2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for KRTAP12-2 Gene

Drugs & Compounds for KRTAP12-2 Gene

No Compound Related Data Available

Transcripts for KRTAP12-2 Gene

mRNA/cDNA for KRTAP12-2 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP12-2 Gene

No ASD Table

Relevant External Links for KRTAP12-2 Gene

GeneLoc Exon Structure for
KRTAP12-2
ECgene alternative splicing isoforms for
KRTAP12-2

Expression for KRTAP12-2 Gene

mRNA expression in normal human tissues for KRTAP12-2 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP12-2 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x44.7) and Skin - Sun Exposed (Lower leg) (x7.6).

SOURCE GeneReport for Unigene cluster for KRTAP12-2 Gene Hs.567902

mRNA Expression by UniProt/SwissProt for KRTAP12-2 Gene

P59991-KR122_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.
genes like me logo Genes that share expression patterns with KRTAP12-2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for KRTAP12-2 Gene

Orthologs for KRTAP12-2 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRTAP12-2 Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Gm10100 35
  • 77.5 (n)
  • 69.17 (a)
Gm10142 16
Gm10024 36
  • 66 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia KRTAP12-2 35
  • 97.95 (n)
  • 95.89 (a)
rat
(Rattus norvegicus)
Mammalia LOC100361702 35
  • 75.89 (n)
  • 73.21 (a)
cow
(Bos Taurus)
Mammalia -- 36
  • 54 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 55 (a)
ManyToMany
-- 36
  • 40 (a)
ManyToMany
Species with no ortholog for KRTAP12-2:
  • 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)
  • 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 KRTAP12-2 Gene

ENSEMBL:
Gene Tree for KRTAP12-2 (if available)
TreeFam:
Gene Tree for KRTAP12-2 (if available)

Paralogs for KRTAP12-2 Gene

Paralogs for KRTAP12-2 Gene

(6) SIMAP similar genes for KRTAP12-2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KRTAP12-2: view

Variants for KRTAP12-2 Gene

Sequence variations from dbSNP and Humsavar for KRTAP12-2 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
VAR_053468 -
VAR_053469 -
VAR_060057 -
VAR_060058 -
VAR_060059 -

Structural Variations from Database of Genomic Variants (DGV) for KRTAP12-2 Gene

Variant ID Type Subtype PubMed ID
nsv913950 CNV Gain 21882294
esv2723675 CNV Deletion 23290073
esv2723676 CNV Deletion 23290073

Variation tolerance for KRTAP12-2 Gene

Residual Variation Intolerance Score: 93.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.23; 69.98% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for KRTAP12-2 Gene

Disorders for KRTAP12-2 Gene

Relevant External Links for KRTAP12-2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRTAP12-2

No disorders were found for KRTAP12-2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP12-2 Gene

Publications for KRTAP12-2 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 67
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  3. 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. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for KRTAP12-2 Gene

Sources for KRTAP12-2 Gene

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