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Aliases for KRTAP6-2 Gene

Aliases for KRTAP6-2 Gene

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

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. Among its related pathways are Developmental Biology.

UniProtKB/Swiss-Prot 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 , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRTAP6-2 Gene

Genomics for KRTAP6-2 Gene

Regulatory Elements for KRTAP6-2 Gene


Genomic Location for KRTAP6-2 Gene

Chromosome:
21
Start:
30,598,590 bp from pter
End:
30,598,902 bp from pter
Size:
313 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

Protein Domains for KRTAP6-2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP6-2 Gene

GenScript: Design optimal peptide antigens:

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

Animal Model Products

Clone Products

Flow Cytometry 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 KRTAP6-2 Gene

Localization for KRTAP6-2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KRTAP6-2 Gene COMPARTMENTS Subcellular localization image for KRTAP6-2 gene
Compartment Confidence
cytoskeleton 3
extracellular 3
cytosol 1
nucleus 1

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

GO ID Qualified GO term Evidence PubMed IDs
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 for KRTAP6-2 Gene

Pathways & Interactions for KRTAP6-2 Gene

SuperPathways for KRTAP6-2 Gene

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

Pathways by source for KRTAP6-2 Gene

1 Reactome pathway for KRTAP6-2 Gene

Interacting Proteins for KRTAP6-2 Gene

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

None

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

Transcripts for KRTAP6-2 Gene

mRNA/cDNA for KRTAP6-2 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 KRTAP6-2 Gene

No ASD Table

Relevant External Links for KRTAP6-2 Gene

GeneLoc Exon Structure for
KRTAP6-2
ECgene alternative splicing isoforms for
KRTAP6-2

Expression for KRTAP6-2 Gene

mRNA expression in normal human tissues for KRTAP6-2 Gene

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 and mRNA Expression by UniProt/SwissProt 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)

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

Sequence variations from dbSNP and Humsavar for KRTAP6-2 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs111261810 -- 30,599,311(+) ATTTC(G/T)GCTCT upstream-variant-2KB
rs111546176 -- 30,598,624(+) GCATA(C/T)GGGGT downstream-variant-500B
rs111823322 -- 30,598,785(+) CAGCG(C/G/T)AGGCT reference, synonymous-codon
rs111863818 -- 30,599,298(+) TTGCC(C/T)TTTTA upstream-variant-2KB
rs111989012 -- 30,600,604(+) TGGCA(C/T)GCACC upstream-variant-2KB

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)

Relevant External Links for KRTAP6-2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP6-2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP6-2 Gene

Disorders for KRTAP6-2 Gene

Relevant External Links for KRTAP6-2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRTAP6-2

No disorders were found for KRTAP6-2 Gene.

No data available for MalaCards , 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 M.A. … Schweizer J. (J. Biol. Chem. 2002) 2 3 64

Products for KRTAP6-2 Gene

Sources for KRTAP6-2 Gene

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