Aliases for KRTAP12-2 Gene

Aliases for KRTAP12-2 Gene

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

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. Diseases associated with KRTAP12-2 include Three M Syndrome 1. Among its related pathways are Developmental Biology and Keratinization. An important paralog of this gene is KRTAP12-1.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for KRTAP12-2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRTAP12-2 Gene

Genomics for KRTAP12-2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KRTAP12-2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRTAP12-2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRTAP12-2

Top Transcription factor binding sites by QIAGEN in the KRTAP12-2 gene promoter:
  • AREB6
  • COMP1
  • E47
  • MyoD
  • NF-kappaB1
  • POU3F2
  • Spz1
  • STAT5A
  • Tal-1

Genomic Locations for KRTAP12-2 Gene

Genomic Locations for KRTAP12-2 Gene
chr21:44,666,189-44,666,927
(GRCh38/hg38)
Size:
739 bases
Orientation:
Minus strand
chr21:46,086,106-46,086,844
(GRCh37/hg19)
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

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

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

Protein Domains for KRTAP12-2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP12-2 Gene

GenScript: Design optimal peptide antigens:
  • Keratin-associated protein 12.2 (KR122_HUMAN)

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 From GWAS Catalog for KRTAP12-2 Gene

Gene Ontology (GO) - Molecular Function for KRTAP12-2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with KRTAP12-2: view
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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP12-2

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

Localization for KRTAP12-2 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 KRTAP12-2 gene
Compartment Confidence
cytosol 4
extracellular 2
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for KRTAP12-2 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 KRTAP12-2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP12-2 Gene

Pathways & Interactions for KRTAP12-2 Gene

PathCards logo

SuperPathways for KRTAP12-2 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRTAP12-2: view

Pathways by source for KRTAP12-2 Gene

2 Reactome pathways for KRTAP12-2 Gene

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP12-2: view

No data available for 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 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP12-2

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

Expression for KRTAP12-2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRTAP12-2

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.

Evidence on tissue expression from TISSUES for KRTAP12-2 Gene

  • Skin(4)
genes like me logo Genes that share expression patterns with KRTAP12-2: view

Primer Products

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 and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
Mammalia KRTAP12-2 30
  • 97.95 (n)
Mouse
(Mus musculus)
Mammalia Gm10100 30 17
  • 77.5 (n)
Gm10024 17 31
  • 66 (a)
ManyToMany
Gm10142 17
Rat
(Rattus norvegicus)
Mammalia LOC100361702 30
  • 75.89 (n)
Dog
(Canis familiaris)
Mammalia -- 31
  • 55 (a)
ManyToMany
-- 31
  • 40 (a)
ManyToMany
Cow
(Bos Taurus)
Mammalia -- 31
  • 54 (a)
ManyToMany
Species where no ortholog for KRTAP12-2 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)
  • 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 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 KRTAP12-2 Gene

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

Paralogs for KRTAP12-2 Gene

Variants for KRTAP12-2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRTAP12-2 Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
rs12483730 - p.Ala116Val
rs13046903 - p.Ala16Thr
rs2838622 - p.Ser143Pro
rs7275281 - p.Ser29Cys
rs7275298 - p.Ala16Val

Additional dbSNP identifiers (rs#s) for KRTAP12-2 Gene

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

Variant ID Type Subtype PubMed ID
esv2723675 CNV deletion 23290073
esv2723676 CNV deletion 23290073
esv2760705 CNV gain 21179565
nsv1111232 CNV tandem duplication 24896259

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)

Additional Variant Information for KRTAP12-2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP12-2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP12-2 Gene

Disorders for KRTAP12-2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KRTAP12-2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
three m syndrome 1
  • 3m1
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with KRTAP12-2: view

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

Publications for KRTAP12-2 Gene

  1. 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
  2. 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
  3. Hair keratin associated proteins: characterization of a second high sulfur KAP gene domain on human chromosome 21. (PMID: 14962103) Rogers MA … Schweizer J (The Journal of investigative dermatology 2004) 3 4
  4. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for KRTAP12-2 Gene

Sources for KRTAP12-2 Gene