Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KRTAP21-2 Gene

Aliases for KRTAP21-2 Gene

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

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 Keratinization and Developmental Biology. GO annotations related to this gene include structural constituent of cutaneous appendage.

UniProtKB/Swiss-Prot 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.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRTAP21-2 Gene

Genomics for KRTAP21-2 Gene

Regulatory Elements for KRTAP21-2 Gene


Genomic Location for KRTAP21-2 Gene

Chromosome:
21
Start:
30,746,794 bp from pter
End:
30,747,233 bp from pter
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

Protein Domains for KRTAP21-2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP21-2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KRTAP21-2: view

No data available for 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.

Phenotypes for KRTAP21-2 Gene

genes like me logo Genes that share phenotypes with KRTAP21-2: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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 5
extracellular 3
cytoskeleton 3
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 for KRTAP21-2 Gene

Pathways & Interactions for KRTAP21-2 Gene

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

Interacting Proteins 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) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

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
ECgene alternative splicing isoforms for
KRTAP21-2

Expression for KRTAP21-2 Gene

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

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

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)

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:

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

Sequence variations from dbSNP and Humsavar for KRTAP21-2 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs1000243330 -- 30,748,641(+) AAAAC(C/T)TTTTC upstream-variant-2KB
rs1003188637 -- 30,748,635(+) GGAGA(C/G)AAAAC upstream-variant-2KB
rs1004172493 -- 30,747,944(+) AGGGG(A/C)ATTCC upstream-variant-2KB
rs1004971152 -- 30,747,098(+) CAGCC(A/G)GAGCC reference, synonymous-codon
rs1005369352 -- 30,746,907(+) TTGAT(C/T)TTGGA downstream-variant-500B

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)

Relevant External Links 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 for KRTAP21-2 Gene

Disorders for KRTAP21-2 Gene

Relevant External Links for KRTAP21-2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRTAP21-2

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 M.A. … Schweizer J. (J. Biol. Chem. 2002) 2 3 64
  2. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M. … Yaspo M.-L. (Nature 2000) 4 64

Products for KRTAP21-2 Gene

Sources for KRTAP21-2 Gene

Content
Loading form....