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
  • 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. 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 for KRTAP12-2 Gene

Promoters and enhancers for KRTAP12-2 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
GH21J044876 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 8 -214.3 -214273 7.2 ZBTB40 LCORL MLX RBPJ SMARCE1 POLR2A NR2F1 NR2F6 ATF1 MIXL1 lnc-FAM207A-4 UBE2G2 POFUT2 PTTG1IP SUMO3 LINC01424 KRTAP10-6 KRTAP12-2 KRTAP10-11 KRTAP12-1
GH21J044626 Promoter/Enhancer 0.8 EPDnew Ensembl ENCODE 11.4 +38.9 38926 5.6 ZIC2 ZKSCAN1 KRTAP10-9 KRTAP12-3 KRTAP12-4 KRTAP10-4 KRTAP12-2 TSPEAR IMMTP1 KRTAP12-1 KRTAP10-2 KRTAP10-1
GH21J045167 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 5.3 -502.3 -502274 4.4 ZC3H8 SP1 MAFK BACH1 NFE2L2 PKNOX1 ZNF316 NFE2 POLR2A MAFG ADARB1 KRTAP12-2 LINC00315 NONHSAG033067.2 piR-35674-330
GH21J045208 Enhancer 0.8 ENCODE 5.2 -542.6 -542608 1.7 ZNF362 JUND NFIB MLLT1 PRDM1 CREM HDGF IKZF1 CREB1 ATF1 COL6A1 ENSG00000184441 UBE2G2 LINC00334 MTCO1P3 ENSG00000228355 POFUT2 CFAP410 MTND5P1 KRTAP12-2
GH21J045160 Enhancer 0.8 Ensembl ENCODE dbSUPER 4.8 -495.2 -495152 6.2 ZNF680 PKNOX1 PAX8 POLR2A ZFHX2 TARDBP LINC00315 LINC00334 SSR4P1 KRTAP12-2 NONHSAG033067.2 piR-35674-330 ADARB1
- 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 UCSC Golden Path with GeneCards custom track

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

Clone Products

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) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP 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).

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

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 32
  • 97.95 (n)
mouse
(Mus musculus)
Mammalia Gm10100 32
  • 77.5 (n)
Gm10024 33
  • 66 (a)
ManyToMany
Gm10142 17
rat
(Rattus norvegicus)
Mammalia LOC100361702 32
  • 75.89 (n)
dog
(Canis familiaris)
Mammalia -- 33
  • 55 (a)
ManyToMany
-- 33
  • 40 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia -- 33
  • 54 (a)
ManyToMany
Species where no ortholog for KRTAP12-2 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)
  • 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

Variants for KRTAP12-2 Gene

Sequence variations from dbSNP and Humsavar for KRTAP12-2 Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs1003618501 -- 44,667,876(-) T/C/G upstream_transcript_variant
rs1005206959 -- 44,668,567(-) G/T upstream_transcript_variant
rs1007282569 -- 44,667,109(-) C/T upstream_transcript_variant
rs1008121469 -- 44,667,333(-) G/A upstream_transcript_variant
rs1009193969 -- 44,667,464(-) G/T upstream_transcript_variant

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

Additional Disease Information for 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. 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 56
  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 56
  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 56
  4. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 3 4 56
  5. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. (PMID: 26871637) Yang X … Vidal M (Cell 2016) 3 56

Products for KRTAP12-2 Gene

Sources for KRTAP12-2 Gene