Aliases for KRTAP12-4 Gene

Aliases for KRTAP12-4 Gene

  • Keratin Associated Protein 12-4 2 3 5
  • KRTAP12.4 2 3 4
  • High Sulfur Keratin-Associated Protein 12.4 3 4
  • Keratin-Associated Protein 12-4 3 4
  • Keratin-Associated Protein 12.4 4
  • KRTAP12-4 5
  • KAP12.4 4

External Ids for KRTAP12-4 Gene

Previous GeneCards Identifiers for KRTAP12-4 Gene

  • GC00U914013
  • GC21M044930
  • GC21M044898
  • GC21M046075
  • GC21M031448
  • GC21M046164
  • GC21M046387
  • GC21M046546
  • GC21M046733

Summaries for KRTAP12-4 Gene

GeneCards Summary for KRTAP12-4 Gene

KRTAP12-4 (Keratin Associated Protein 12-4) is a Protein Coding gene. Diseases associated with KRTAP12-4 include Deafness, Autosomal Recessive 98 and Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. Among its related pathways are Developmental Biology and Keratinization.

UniProtKB/Swiss-Prot Summary for KRTAP12-4 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 , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRTAP12-4 Gene

Genomics for KRTAP12-4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KRTAP12-4 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
GH21J044653 Enhancer 0.3 ENCODE 250.7 +0.3 292 1.3 ZIC2 KRTAP12-4 KRTAP10-11 lnc-KRTAP12-4-1 HSALNG0133554 TSPEAR
GH21J044626 Promoter/Enhancer 0.8 EPDnew Ensembl ENCODE 11.5 +26.7 26658 5.6 ZIC2 ZKSCAN1 KRTAP10-9 KRTAP12-3 KRTAP12-4 KRTAP10-4 KRTAP12-2 TSPEAR IMMTP1 KRTAP12-1 KRTAP10-2 KRTAP10-1
GH21J044566 Enhancer 0.7 Ensembl ENCODE 10.7 +88.7 88658 2.8 JUND BATF FOXA1 TCF7 JUNB ARID3A ATF1 ATF3 CREM MTA2 KRTAP10-1 TSPEAR-AS2 KRTAP12-3 IMMTP1 KRTAP12-1 KRTAP12-4 KRTAP10-3 KRTAP10-4 TSPEAR
GH21J045134 Enhancer 1.2 Ensembl ENCODE dbSUPER 5.4 -482.5 -482492 5.3 MYC ZNF654 ZNF600 ZNF10 ZIC2 CTCF REST DEK TRIM22 BHLHE40 SSR4P1 ADARB1 MTCO1P3 ENSG00000228355 LINC00334 LINC00205 LINC00315 KRTAP12-4 HSALNG0133607 NONHSAG033067.2
GH21J044851 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 2.7 -199.4 -199400 3.7 NCOR1 MYC IKZF1 ZNF592 NFIC ZIC2 NONO REST HES1 BHLHE40 PTTG1IP SUMO3 UBE2G2 LINC01424 POFUT2 KRTAP12-4 piR-37249 lnc-FAM207A-6 lnc-ITGB2-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRTAP12-4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRTAP12-4

Top Transcription factor binding sites by QIAGEN in the KRTAP12-4 gene promoter:
  • AP-4
  • c-Myc
  • COMP1
  • E47
  • GR
  • GR-alpha
  • Max1
  • MyoD
  • Spz1

Genomic Locations for KRTAP12-4 Gene

Latest Assembly
chr21:44,654,213-44,654,659
(GRCh38/hg38)
Size:
447 bases
Orientation:
Minus strand

Previous Assembly
chr21:46,074,130-46,074,576
(GRCh37/hg19 by Entrez Gene)
Size:
447 bases
Orientation:
Minus strand

chr21:46,074,130-46,074,576
(GRCh37/hg19 by Ensembl)
Size:
447 bases
Orientation:
Minus strand

Genomic View for KRTAP12-4 Gene

Genes around KRTAP12-4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP12-4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP12-4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP12-4 Gene

Proteins for KRTAP12-4 Gene

  • Protein details for KRTAP12-4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P60329-KR124_HUMAN
    Recommended name:
    Keratin-associated protein 12-4
    Protein Accession:
    P60329
    Secondary Accessions:
    • Q08AF5

    Protein attributes for KRTAP12-4 Gene

    Size:
    112 amino acids
    Molecular mass:
    11433 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP12-4 Gene

Post-translational modifications for KRTAP12-4 Gene

No Post-translational modifications

Other Protein References for KRTAP12-4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP12-4 Gene

Domains & Families for KRTAP12-4 Gene

Gene Families for KRTAP12-4 Gene

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

Protein Domains for KRTAP12-4 Gene

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

Suggested Antigen Peptide Sequences for KRTAP12-4 Gene

GenScript: Design optimal peptide antigens:
  • Keratin-associated protein 12.4 (KR124_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P60329

UniProtKB/Swiss-Prot:

KR124_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 KRTAP12-4: view

Function for KRTAP12-4 Gene

Molecular function for KRTAP12-4 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.

Gene Ontology (GO) - Molecular Function for KRTAP12-4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with KRTAP12-4: view
genes like me logo Genes that share phenotypes with KRTAP12-4: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP12-4

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRTAP12-4 Gene

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

Gene Ontology (GO) - Cellular Components for KRTAP12-4 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 KRTAP12-4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP12-4 Gene

Pathways & Interactions for KRTAP12-4 Gene

PathCards logo

SuperPathways for KRTAP12-4 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRTAP12-4: view

Pathways by source for KRTAP12-4 Gene

2 Reactome pathways for KRTAP12-4 Gene

Gene Ontology (GO) - Biological Process for KRTAP12-4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP12-4: view

No data available for SIGNOR curated interactions for KRTAP12-4 Gene

Drugs & Compounds for KRTAP12-4 Gene

No Compound Related Data Available

Transcripts for KRTAP12-4 Gene

mRNA/cDNA for KRTAP12-4 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 KRTAP12-4

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP12-4 Gene

No ASD Table

Relevant External Links for KRTAP12-4 Gene

GeneLoc Exon Structure for
KRTAP12-4

Expression for KRTAP12-4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRTAP12-4 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP12-4 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x48.2).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRTAP12-4

SOURCE GeneReport for Unigene cluster for KRTAP12-4 Gene:

Hs.689664

mRNA Expression by UniProt/SwissProt for KRTAP12-4 Gene:

P60329-KR124_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 KRTAP12-4 Gene

  • Skin(4)
  • Lung(2.7)
genes like me logo Genes that share expression patterns with KRTAP12-4: view

Primer products for research

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 KRTAP12-4 Gene

Orthologs for KRTAP12-4 Gene

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

Orthologs for KRTAP12-4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KRTAP12-4 29 30
  • 98.51 (n)
OneToOne
Species where no ortholog for KRTAP12-4 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)
  • Mouse (Mus musculus)
  • 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 KRTAP12-4 Gene

ENSEMBL:
Gene Tree for KRTAP12-4 (if available)
TreeFam:
Gene Tree for KRTAP12-4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRTAP12-4: view image
Alliance of Genome Resources:
Additional Orthologs for KRTAP12-4

Paralogs for KRTAP12-4 Gene

(4) SIMAP similar genes for KRTAP12-4 Gene using alignment to 1 proteins:

  • KR124_HUMAN

Pseudogenes.org Pseudogenes for KRTAP12-4 Gene

genes like me logo Genes that share paralogs with KRTAP12-4: view

No data available for Paralogs for KRTAP12-4 Gene

Variants for KRTAP12-4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRTAP12-4 Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
1030230 Pathogenic: Deafness, autosomal recessive 98 44,654,446(-) G/A
NM_144991.3(TSPEAR):c.82+56987C>T
NONSENSE,INTRON
1034285 Pathogenic: Deafness, autosomal recessive 98 44,654,537(-) G/C
NM_144991.3(TSPEAR):c.82+56896C>G
NONSENSE,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KRTAP12-4 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 KRTAP12-4 Gene

Variant ID Type Subtype PubMed ID
esv2723675 CNV deletion 23290073
esv2760705 CNV gain 21179565

Variation tolerance for KRTAP12-4 Gene

Residual Variation Intolerance Score: 47.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.35; 7.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRTAP12-4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP12-4
Leiden Open Variation Database (LOVD)
KRTAP12-4

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP12-4 Gene

Disorders for KRTAP12-4 Gene

MalaCards: The human disease database

(3) MalaCards diseases for KRTAP12-4 Gene - From: CVR, COP, and GCD

Disorder Aliases PubMed IDs
deafness, autosomal recessive 98
  • dfnb98
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
three m syndrome 1
  • 3m1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KRTAP12-4

genes like me logo Genes that share disorders with KRTAP12-4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KRTAP12-4 Gene

Publications for KRTAP12-4 Gene

  1. 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
  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. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. 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

Products for KRTAP12-4 Gene

Sources for KRTAP12-4 Gene