Aliases for KRTAP20-2 Gene

Aliases for KRTAP20-2 Gene

  • Keratin Associated Protein 20-2 2 3 5
  • KAP20.2 2 3 4
  • Keratin-Associated Protein 20-2 3 4
  • KRTAP20-2 5

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. Among its related pathways are Developmental Biology and Keratinization.

UniProtKB/Swiss-Prot Summary 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 , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRTAP20-2 Gene

Genomics for KRTAP20-2 Gene

GeneHancer (GH) Regulatory Elements Pubs


Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRTAP20-2

Top Transcription factor binding sites by QIAGEN in the KRTAP20-2 gene promoter:
  • Evi-1
  • GATA-1
  • Nkx2-2
  • Pbx1a
  • POU2F1
  • POU2F1a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • RFX1

Genomic Locations for KRTAP20-2 Gene

Latest Assembly
chr21:30,635,206-30,635,619
(GRCh38/hg38)
Size:
414 bases
Orientation:
Plus strand

Previous Assembly
chr21:32,007,525-32,007,938
(GRCh37/hg19 by Entrez Gene)
Size:
414 bases
Orientation:
Plus strand

chr21:32,007,555-32,007,938
(GRCh37/hg19 by Ensembl)
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

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

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

Protein Domains for KRTAP20-2 Gene

Suggested Antigen Peptide Sequences for KRTAP20-2 Gene

GenScript: Design optimal peptide antigens:
  • Keratin-associated protein 20-2 (KR202_HUMAN)

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

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP20-2

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
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 KRTAP20-2 gene
Compartment Confidence
cytosol 4
extracellular 3
cytoskeleton 3

Gene Ontology (GO) - Cellular Components for KRTAP20-2 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 KRTAP20-2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP20-2 Gene

Pathways & Interactions for KRTAP20-2 Gene

PathCards logo

SuperPathways for KRTAP20-2 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRTAP20-2: view

Pathways by source for KRTAP20-2 Gene

2 Reactome pathways for KRTAP20-2 Gene

Interacting Proteins for KRTAP20-2 Gene

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP20-2: view

No data available for 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 :
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 KRTAP20-2

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

Expression for KRTAP20-2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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



Protein tissue co-expression partners for KRTAP20-2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRTAP20-2

SOURCE GeneReport for Unigene cluster for KRTAP20-2 Gene:

Hs.553698

Evidence on tissue expression from TISSUES for KRTAP20-2 Gene

  • Skin(4)
genes like me logo Genes that share expression patterns with KRTAP20-2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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)
Aminode:
Evolutionary constrained regions (ECRs) for KRTAP20-2: view image
Alliance of Genome Resources:
Additional Orthologs for KRTAP20-2

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRTAP20-2 Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
rs8131539 -- p.Tyr13Cys
rs8132705 -- p.Tyr7His
rs8132721 -- p.Val17Gly

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KRTAP20-2 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 KRTAP20-2 Gene

Variant ID Type Subtype PubMed ID
nsv1057467 CNV gain 25217958

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)

Additional Variant Information for KRTAP20-2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP20-2
Leiden Open Variation Database (LOVD)
KRTAP20-2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP20-2 Gene

Disorders for KRTAP20-2 Gene

Additional Disease Information for 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 DS … MGC Project Team (Genome research 2004) 3 4
  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 MA … Schweizer J (The Journal of biological chemistry 2002) 2 3
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3

Products for KRTAP20-2 Gene

Sources for KRTAP20-2 Gene