Aliases for KRTAP6-2 Gene

Aliases for KRTAP6-2 Gene

  • Keratin Associated Protein 6-2 2 3 5
  • KAP6.2 2 3 4
  • Keratin-Associated Protein 6-2 3 4
  • KRTAP6-2 5

External Ids for KRTAP6-2 Gene

Previous GeneCards Identifiers for KRTAP6-2 Gene

  • GC21U900017
  • GC21M030891
  • GC21M030892
  • GC21M031970
  • GC21M017379

Summaries for KRTAP6-2 Gene

GeneCards Summary for KRTAP6-2 Gene

KRTAP6-2 (Keratin Associated Protein 6-2) is a Protein Coding gene. Diseases associated with KRTAP6-2 include Three M Syndrome 1. Among its related pathways are Developmental Biology and Keratinization.

UniProtKB/Swiss-Prot Summary for KRTAP6-2 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 KRTAP6-2 Gene

Genomics for KRTAP6-2 Gene

GeneHancer (GH) Regulatory Elements Pubs


Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRTAP6-2

Top Transcription factor binding sites by QIAGEN in the KRTAP6-2 gene promoter:
  • AML1a
  • CP1A
  • CP1C
  • NF-Y
  • NF-YA
  • NF-YB
  • NF-YC
  • POU3F2
  • Sox5
  • SRY

Genomic Locations for KRTAP6-2 Gene

Latest Assembly
chr21:30,598,590-30,598,902
(GRCh38/hg38)
Size:
313 bases
Orientation:
Minus strand

Previous Assembly
chr21:31,971,005-31,971,193
(GRCh37/hg19 by Entrez Gene)
Size:
189 bases
Orientation:
Minus strand

chr21:31,970,909-31,971,219
(GRCh37/hg19 by Ensembl)
Size:
311 bases
Orientation:
Minus strand

Genomic View for KRTAP6-2 Gene

Genes around KRTAP6-2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP6-2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP6-2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP6-2 Gene

Proteins for KRTAP6-2 Gene

  • Protein details for KRTAP6-2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3LI66-KRA62_HUMAN
    Recommended name:
    Keratin-associated protein 6-2
    Protein Accession:
    Q3LI66

    Protein attributes for KRTAP6-2 Gene

    Size:
    62 amino acids
    Molecular mass:
    6654 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP6-2 Gene

Post-translational modifications for KRTAP6-2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRTAP6-2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP6-2 Gene

Domains & Families for KRTAP6-2 Gene

Gene Families for KRTAP6-2 Gene

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

Protein Domains for KRTAP6-2 Gene

Suggested Antigen Peptide Sequences for KRTAP6-2 Gene

GenScript: Design optimal peptide antigens:
  • Keratin-associated protein 6-2 (KRA62_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q3LI66

UniProtKB/Swiss-Prot:

KRA62_HUMAN :
  • Belongs to the KRTAP type 6 family.
Family:
  • Belongs to the KRTAP type 6 family.
genes like me logo Genes that share domains with KRTAP6-2: view

Function for KRTAP6-2 Gene

Molecular function for KRTAP6-2 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.

Gene Ontology (GO) - Molecular Function for KRTAP6-2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
GO:0042802 identical protein binding IPI 32296183
genes like me logo Genes that share ontologies with KRTAP6-2: view
genes like me logo Genes that share phenotypes with KRTAP6-2: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP6-2

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRTAP6-2 Gene

Localization for KRTAP6-2 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 KRTAP6-2 gene
Compartment Confidence
cytosol 4
cytoskeleton 3
extracellular 2
nucleus 1

Gene Ontology (GO) - Cellular Components for KRTAP6-2 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 KRTAP6-2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP6-2 Gene

Pathways & Interactions for KRTAP6-2 Gene

PathCards logo

SuperPathways for KRTAP6-2 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRTAP6-2: view

Pathways by source for KRTAP6-2 Gene

2 Reactome pathways for KRTAP6-2 Gene

Gene Ontology (GO) - Biological Process for KRTAP6-2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP6-2: view

No data available for SIGNOR curated interactions for KRTAP6-2 Gene

Drugs & Compounds for KRTAP6-2 Gene

No Compound Related Data Available

Transcripts for KRTAP6-2 Gene

mRNA/cDNA for KRTAP6-2 Gene

1 REFSEQ mRNAs :
3 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 KRTAP6-2

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP6-2 Gene

No ASD Table

Relevant External Links for KRTAP6-2 Gene

GeneLoc Exon Structure for
KRTAP6-2

Expression for KRTAP6-2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRTAP6-2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRTAP6-2

SOURCE GeneReport for Unigene cluster for KRTAP6-2 Gene:

Hs.553690
genes like me logo Genes that share expression patterns with KRTAP6-2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRTAP6-2 Gene

Orthologs for KRTAP6-2 Gene

Evolution for KRTAP6-2 Gene

ENSEMBL:
Gene Tree for KRTAP6-2 (if available)
TreeFam:
Gene Tree for KRTAP6-2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRTAP6-2: view image
Alliance of Genome Resources:
Additional Orthologs for KRTAP6-2

No data available for Orthologs for KRTAP6-2 Gene

Paralogs for KRTAP6-2 Gene

No data available for Paralogs for KRTAP6-2 Gene

Variants for KRTAP6-2 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KRTAP6-2 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 KRTAP6-2 Gene

Variant ID Type Subtype PubMed ID
esv2762105 CNV gain 21179565
nsv1057467 CNV gain 25217958
nsv587354 CNV gain 21841781

Variation tolerance for KRTAP6-2 Gene

Residual Variation Intolerance Score: 79.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.36; 41.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRTAP6-2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP6-2
Leiden Open Variation Database (LOVD)
KRTAP6-2

SNP Genotyping and Copy Number Assays for research

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 KRTAP6-2 Gene

Disorders for KRTAP6-2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KRTAP6-2 Gene - From: COP

Disorder Aliases PubMed IDs
three m syndrome 1
  • 3m1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KRTAP6-2

genes like me logo Genes that share disorders with KRTAP6-2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KRTAP6-2 Gene

Publications for KRTAP6-2 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

Products for KRTAP6-2 Gene

Sources for KRTAP6-2 Gene