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Aliases for KRTAP20-2 Gene

Aliases for KRTAP20-2 Gene

  • Keratin Associated Protein 20-2 2 3 5
  • KAP20.2 3 4

External Ids for KRTAP20-2 Gene

Previous GeneCards Identifiers for KRTAP20-2 Gene

  • GC00U906263
  • GC21U900111
  • GC21P030929
  • GC21P030930
  • GC21P032007
  • GC21P017416

Summaries for KRTAP20-2 Gene

GeneCards Summary for KRTAP20-2 Gene

KRTAP20-2 (Keratin Associated Protein 20-2) is a Protein Coding gene.

UniProtKB/Swiss-Prot for KRTAP20-2 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 , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRTAP20-2 Gene

Genomics for KRTAP20-2 Gene

Regulatory Elements for KRTAP20-2 Gene


Genomic Location for KRTAP20-2 Gene

Chromosome:
21
Start:
30,635,236 bp from pter
End:
30,635,619 bp from pter
Size:
384 bases
Orientation:
Plus strand

Genomic View for KRTAP20-2 Gene

Genes around KRTAP20-2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP20-2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP20-2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP20-2 Gene

Proteins for KRTAP20-2 Gene

  • Protein details for KRTAP20-2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3LI61-KR202_HUMAN
    Recommended name:
    Keratin-associated protein 20-2
    Protein Accession:
    Q3LI61

    Protein attributes for KRTAP20-2 Gene

    Size:
    65 amino acids
    Molecular mass:
    6961 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP20-2 Gene

Proteomics data for KRTAP20-2 Gene at MOPED

Post-translational modifications for KRTAP20-2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRTAP20-2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP20-2 Gene

Domains & Families for KRTAP20-2 Gene

Gene Families for KRTAP20-2 Gene

Protein Domains for KRTAP20-2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP20-2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q3LI61

UniProtKB/Swiss-Prot:

KR202_HUMAN :
  • Belongs to the KRTAP type 20 family.
Family:
  • Belongs to the KRTAP type 20 family.
genes like me logo Genes that share domains with KRTAP20-2: view

Function for KRTAP20-2 Gene

Molecular function for KRTAP20-2 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 KRTAP20-2 Gene

GenomeRNAi human phenotypes for KRTAP20-2:
genes like me logo Genes that share phenotypes with KRTAP20-2: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRTAP20-2 Gene

Localization for KRTAP20-2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KRTAP20-2 Gene COMPARTMENTS Subcellular localization image for KRTAP20-2 gene
Compartment Confidence
cytoskeleton 3
extracellular 3

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for KRTAP20-2 Gene

Pathways & Interactions for KRTAP20-2 Gene

SuperPathways for KRTAP20-2 Gene

No Data Available

Interacting Proteins for KRTAP20-2 Gene

Gene Ontology (GO) - Biological Process for KRTAP20-2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for KRTAP20-2 Gene

Drugs & Compounds for KRTAP20-2 Gene

No Compound Related Data Available

Transcripts for KRTAP20-2 Gene

mRNA/cDNA for KRTAP20-2 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 KRTAP20-2 Gene

No ASD Table

Relevant External Links for KRTAP20-2 Gene

GeneLoc Exon Structure for
KRTAP20-2
ECgene alternative splicing isoforms for
KRTAP20-2

Expression for KRTAP20-2 Gene

mRNA expression in normal human tissues for KRTAP20-2 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP20-2 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x42.0) and Skin - Sun Exposed (Lower leg) (x8.5).

Protein differential expression in normal tissues from HIPED for KRTAP20-2 Gene

This gene is overexpressed in Hair follicle (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KRTAP20-2 Gene



SOURCE GeneReport for Unigene cluster for KRTAP20-2 Gene Hs.553698

genes like me logo Genes that share expression patterns with KRTAP20-2: view

Protein tissue co-expression partners for KRTAP20-2 Gene

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for KRTAP20-2 Gene

Orthologs for KRTAP20-2 Gene

Evolution for KRTAP20-2 Gene

ENSEMBL:
Gene Tree for KRTAP20-2 (if available)
TreeFam:
Gene Tree for KRTAP20-2 (if available)

No data available for Orthologs for KRTAP20-2 Gene

Paralogs for KRTAP20-2 Gene

No data available for Paralogs for KRTAP20-2 Gene

Variants for KRTAP20-2 Gene

Sequence variations from dbSNP and Humsavar for KRTAP20-2 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs8132705 - 30,635,282(+) GCAAC(C/T)ACTAT reference, missense
rs8131539 - 30,635,301(+) GCGTT(A/G)TGGCT reference, missense
rs8132721 - 30,635,313(+) TGGAG(A/G/T)CCTGG reference, missense
rs198867 -- 30,635,956(+) ATTAT(A/C)TTTTG downstream-variant-500B
rs8131999 -- 30,635,628(+) AGAGT(A/C)ACTGA downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for KRTAP20-2 Gene

Variant ID Type Subtype PubMed ID
nsv913677 CNV Loss 21882294

Variation tolerance for KRTAP20-2 Gene

Residual Variation Intolerance Score: 66% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.48; 10.42% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for KRTAP20-2 Gene

Disorders for KRTAP20-2 Gene

Relevant External Links for KRTAP20-2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRTAP20-2

No disorders were found for KRTAP20-2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP20-2 Gene

Publications for KRTAP20-2 Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 67
  2. 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
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for KRTAP20-2 Gene

Sources for KRTAP20-2 Gene

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