Aliases for KRTAP21-2 Gene

Aliases for KRTAP21-2 Gene

  • Keratin Associated Protein 21-2 2 3 5
  • KAP21.2 2 3 4
  • Keratin-Associated Protein 21-2 3 4
  • KRTAP21-2 5

External Ids for KRTAP21-2 Gene

Previous GeneCards Identifiers for KRTAP21-2 Gene

  • GC00U906265
  • GC21U900113
  • GC21M031039
  • GC21M031041
  • GC21M032119
  • GC21M017528

Summaries for KRTAP21-2 Gene

GeneCards Summary for KRTAP21-2 Gene

KRTAP21-2 (Keratin Associated Protein 21-2) is a Protein Coding gene. Among its related pathways are Developmental Biology and Keratinization. Gene Ontology (GO) annotations related to this gene include structural constituent of cutaneous appendage.

UniProtKB/Swiss-Prot Summary for KRTAP21-2 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 KRTAP21-2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRTAP21-2 Gene

Genomics for KRTAP21-2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KRTAP21-2 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
GH21J030349 Enhancer 0.2 Ensembl 5.9 +397.3 397258 0.8 KRTAP23-1 KRTAP13-2 KRTAP13-3 KRTAP13-4 KRTAP21-2 CLDN8 KRTAP13-6P lnc-KRTAP23-1-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRTAP21-2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRTAP21-2

Top Transcription factor binding sites by QIAGEN in the KRTAP21-2 gene promoter:
  • C/EBPalpha
  • CHOP-10
  • CREB
  • deltaCREB
  • Evi-1
  • FOXC1
  • GATA-1
  • Lmo2
  • MyoD
  • TBP

Genomic Locations for KRTAP21-2 Gene

Genomic Locations for KRTAP21-2 Gene
chr21:30,746,794-30,747,259
(GRCh38/hg38)
Size:
466 bases
Orientation:
Minus strand
chr21:32,119,112-32,119,551
(GRCh37/hg19)
Size:
440 bases
Orientation:
Minus strand

Genomic View for KRTAP21-2 Gene

Genes around KRTAP21-2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP21-2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP21-2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP21-2 Gene

Proteins for KRTAP21-2 Gene

  • Protein details for KRTAP21-2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3LI59-KR212_HUMAN
    Recommended name:
    Keratin-associated protein 21-2
    Protein Accession:
    Q3LI59

    Protein attributes for KRTAP21-2 Gene

    Size:
    83 amino acids
    Molecular mass:
    8564 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP21-2 Gene

Post-translational modifications for KRTAP21-2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRTAP21-2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP21-2 Gene

Domains & Families for KRTAP21-2 Gene

Gene Families for KRTAP21-2 Gene

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

Protein Domains for KRTAP21-2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP21-2 Gene

GenScript: Design optimal peptide antigens:
  • Keratin-associated protein 21-2 (KR212_HUMAN)
genes like me logo Genes that share domains with KRTAP21-2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KRTAP21-2 Gene

Function for KRTAP21-2 Gene

Molecular function for KRTAP21-2 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.
genes like me logo Genes that share phenotypes with KRTAP21-2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP21-2

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KRTAP21-2 Gene

Localization for KRTAP21-2 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 KRTAP21-2 gene
Compartment Confidence
cytosol 4
cytoskeleton 3
extracellular 2
nucleus 1

Gene Ontology (GO) - Cellular Components for KRTAP21-2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA --
genes like me logo Genes that share ontologies with KRTAP21-2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP21-2 Gene

Pathways & Interactions for KRTAP21-2 Gene

PathCards logo

SuperPathways for KRTAP21-2 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRTAP21-2: view

Pathways by source for KRTAP21-2 Gene

2 Reactome pathways for KRTAP21-2 Gene

Gene Ontology (GO) - Biological Process for KRTAP21-2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP21-2: view

No data available for SIGNOR curated interactions for KRTAP21-2 Gene

Drugs & Compounds for KRTAP21-2 Gene

No Compound Related Data Available

Transcripts for KRTAP21-2 Gene

mRNA/cDNA for KRTAP21-2 Gene

1 REFSEQ mRNAs :
1 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 KRTAP21-2

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP21-2 Gene

No ASD Table

Relevant External Links for KRTAP21-2 Gene

GeneLoc Exon Structure for
KRTAP21-2

Expression for KRTAP21-2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRTAP21-2 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP21-2 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x25.4), Testis (x18.2), and Skin - Sun Exposed (Lower leg) (x7.8).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRTAP21-2

SOURCE GeneReport for Unigene cluster for KRTAP21-2 Gene:

Hs.553699

Evidence on tissue expression from TISSUES for KRTAP21-2 Gene

  • Skin(4)
genes like me logo Genes that share expression patterns with KRTAP21-2: 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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRTAP21-2 Gene

Orthologs for KRTAP21-2 Gene

Evolution for KRTAP21-2 Gene

ENSEMBL:
Gene Tree for KRTAP21-2 (if available)
TreeFam:
Gene Tree for KRTAP21-2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRTAP21-2: view image

No data available for Orthologs for KRTAP21-2 Gene

Paralogs for KRTAP21-2 Gene

(3) SIMAP similar genes for KRTAP21-2 Gene using alignment to 1 proteins:

  • KR212_HUMAN
genes like me logo Genes that share paralogs with KRTAP21-2: view

No data available for Paralogs for KRTAP21-2 Gene

Variants for KRTAP21-2 Gene

Additional dbSNP identifiers (rs#s) for KRTAP21-2 Gene

Structural Variations from Database of Genomic Variants (DGV) for KRTAP21-2 Gene

Variant ID Type Subtype PubMed ID
dgv4424n100 CNV gain 25217958
esv2762106 CNV gain 21179565
nsv1057467 CNV gain 25217958
nsv459237 CNV gain 19166990
nsv587359 CNV gain 21841781

Variation tolerance for KRTAP21-2 Gene

Residual Variation Intolerance Score: 70.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.38; 63.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRTAP21-2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP21-2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRTAP21-2 Gene

Disorders for KRTAP21-2 Gene

No disorders were found for KRTAP21-2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP21-2 Gene

Publications for KRTAP21-2 Gene

  1. Characterization of a first domain of human high glycine-tyrosine and high sulfur keratin-associated protein (KAP) genes on chromosome 21q22.1. (PMID: 12359730) Rogers MA … Schweizer J (The Journal of biological chemistry 2002) 2 3
  2. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  3. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 4

Products for KRTAP21-2 Gene

Sources for KRTAP21-2 Gene