KRTAP20-2 Gene (Protein Coding)

Keratin Associated Protein 20-2

GC21P030635
GIFtS:
23
See more...

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.

Additional gene information for KRTAP20-2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRTAP20-2 Gene

Genomics for KRTAP20-2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data

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 Structure • Gene Density

RefSeq DNA sequence for KRTAP20-2 Gene

Proteins for KRTAP20-2 Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • 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

Protein Expression for KRTAP20-2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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

InterPro:

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

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

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 Models for research

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
Developmental Biology
.51
2 Keratinization
Keratinization
.33
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

Products:

  1. Drug products for research
No Compound Related Data Available

Transcripts for KRTAP20-2 Gene

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  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
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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

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRTAP20-2 Gene

mRNA expression in normal human tissues for KRTAP20-2 Gene
mRNA expression by GTEx for KRTAP20-2 GenemRNA expression by BioGPS 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

Products:

  1. SNP Genotyping and Copy Number Assays for research

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

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

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

ExternalLinks

View latest publications for KRTAP20-2 gene in Mastermind

Products for KRTAP20-2 Gene

Sources for KRTAP20-2 Gene