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Aliases for KRTAP2-2 Gene

Aliases for KRTAP2-2 Gene

  • Keratin Associated Protein 2-2 2 3 5
  • KAP2.2 3 4
  • Putative Keratin-Associated Protein ENSP00000381495 3
  • High Sulfur Keratin-Associated Protein 2.2 4
  • Keratin-Associated Protein 2.2 4
  • KRTAP2.2 4

External Ids for KRTAP2-2 Gene

Previous GeneCards Identifiers for KRTAP2-2 Gene

  • GC17U990279
  • GC17M039119
  • GC17M039589
  • GC17P9W0073
  • GC17M036465
  • GC17M036475
  • GC17P8H0073
  • GC17M036466
  • GC17M039210
  • GC17M035005

Summaries for KRTAP2-2 Gene

GeneCards Summary for KRTAP2-2 Gene

KRTAP2-2 (Keratin Associated Protein 2-2) is a Protein Coding gene. Among its related pathways are Developmental Biology. An important paralog of this gene is KRTAP2-1.

UniProtKB/Swiss-Prot for KRTAP2-2 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 (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRTAP2-2 Gene

Genomics for KRTAP2-2 Gene

Regulatory Elements for KRTAP2-2 Gene

Enhancers for KRTAP2-2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F040948 1.1 FANTOM5 Ensembl ENCODE 10.6 +100.5 100517 11.7 PKNOX1 ATF1 MLX ZFP64 ARID4B DMAP1 ZNF48 SLC30A9 ZNF121 ZNF143 KRTAP3-2 KRT23 KRTAP2-1 KRT39 KRT40 KRTAP2-2 ENSG00000234477 KRTAP3-3 KRTAP1-5 KRTAP3-1
GH17F041352 0.7 FANTOM5 9.3 -297.9 -297929 0.3 ZNF121 MIER1 EHMT2 REST TSHZ1 MAFK ENSG00000259623 KRTAP2-1 KRTAP9-1 KRTAP2-2 KRTAP9-2 KRTAP9-9 KRT37 KRT40 KRTAP2-4 KRT35
GH17F041496 1.3 FANTOM5 Ensembl ENCODE 5.2 -443.5 -443455 4.6 HDGF PKNOX1 CREB3L1 ARID4B ZNF2 ZNF143 FOS ZNF263 SP5 REST KRT32 KRTAP2-1 KRT31 KRT38 KRTAP9-2 KRTAP2-2 KRTAP9-1 KRTAP9-9 LOC100505782 KRT34
GH17F041534 1.2 FANTOM5 Ensembl ENCODE 4.8 -482.0 -482013 5.4 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF48 YY1 ZNF121 ZNF207 KRT36 KRT35 KRT31 LOC100505782 KRT19 KRTAP2-1 KRTAP2-2 KRTAP9-1 KRTAP9-2 KRTAP9-9
GH17F041518 1.3 FANTOM5 Ensembl ENCODE 1.8 -470.0 -470025 13.6 MLX CREB3L1 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 ENSG00000259623 KAT2A KRT19 P3H4 DHX58 KRT36 KRT14 ENSG00000267758 STAT5B LOC100505782
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around KRTAP2-2 on UCSC Golden Path with GeneCards custom track

Genomic Location for KRTAP2-2 Gene

Chromosome:
17
Start:
41,054,498 bp from pter
End:
41,055,230 bp from pter
Size:
733 bases
Orientation:
Minus strand

Genomic View for KRTAP2-2 Gene

Genes around KRTAP2-2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP2-2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP2-2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP2-2 Gene

Proteins for KRTAP2-2 Gene

  • Protein details for KRTAP2-2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYT5-KRA22_HUMAN
    Recommended name:
    Keratin-associated protein 2-2
    Protein Accession:
    Q9BYT5
    Secondary Accessions:
    • A8MTN3
    • A8MXM4

    Protein attributes for KRTAP2-2 Gene

    Size:
    123 amino acids
    Molecular mass:
    12957 Da
    Quaternary structure:
    • Interacts with hair keratins.
    SequenceCaution:
    • Sequence=CAC27564.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA. The N-terminal part is identical to the product of the KRTAP2-3 gene.; Evidence={ECO:0000305};

neXtProt entry for KRTAP2-2 Gene

Post-translational modifications for KRTAP2-2 Gene

No Post-translational modifications

Other Protein References for KRTAP2-2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP2-2 Gene

Domains & Families for KRTAP2-2 Gene

Gene Families for KRTAP2-2 Gene

Protein Domains for KRTAP2-2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP2-2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BYT5

UniProtKB/Swiss-Prot:

KRA22_HUMAN :
  • Belongs to the KRTAP type 2 family.
Family:
  • Belongs to the KRTAP type 2 family.
genes like me logo Genes that share domains with KRTAP2-2: view

Function for KRTAP2-2 Gene

Molecular function for KRTAP2-2 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 (By similarity).

Phenotypes for KRTAP2-2 Gene

GenomeRNAi human phenotypes for KRTAP2-2:
genes like me logo Genes that share phenotypes with KRTAP2-2: view

Animal Model 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 KRTAP2-2 Gene

Localization for KRTAP2-2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KRTAP2-2 Gene COMPARTMENTS Subcellular localization image for KRTAP2-2 gene
Compartment Confidence
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for KRTAP2-2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045095 keratin filament IEA --
genes like me logo Genes that share ontologies with KRTAP2-2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRTAP2-2 Gene

Pathways & Interactions for KRTAP2-2 Gene

SuperPathways for KRTAP2-2 Gene

SuperPathway Contained pathways
1 Developmental Biology
genes like me logo Genes that share pathways with KRTAP2-2: view

Pathways by source for KRTAP2-2 Gene

1 Reactome pathway for KRTAP2-2 Gene

Interacting Proteins for KRTAP2-2 Gene

Gene Ontology (GO) - Biological Process for KRTAP2-2 Gene

None

No data available for SIGNOR curated interactions for KRTAP2-2 Gene

Transcripts for KRTAP2-2 Gene

mRNA/cDNA for KRTAP2-2 Gene

(2) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KRTAP2-2 Gene

Keratin associated protein 2-2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP2-2 Gene

No ASD Table

Relevant External Links for KRTAP2-2 Gene

GeneLoc Exon Structure for
KRTAP2-2
ECgene alternative splicing isoforms for
KRTAP2-2

Expression for KRTAP2-2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRTAP2-2 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP2-2 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x47.9) and Skin - Sun Exposed (Lower leg) (x5.0).

SOURCE GeneReport for Unigene cluster for KRTAP2-2 Gene:

Hs.650131
genes like me logo Genes that share expression patterns with KRTAP2-2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for KRTAP2-2 Gene

Orthologs for KRTAP2-2 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRTAP2-2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRTAP2-4 34
  • 98.1 (n)
-- 35
  • 88 (a)
OneToMany
cow
(Bos Taurus)
Mammalia -- 35
  • 83 (a)
ManyToMany
-- 35
  • 80 (a)
ManyToMany
-- 35
  • 79 (a)
ManyToMany
-- 35
  • 79 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Gm11937 35
  • 82 (a)
ManyToMany
Gm11938 35
  • 82 (a)
ManyToMany
Krtap2-4 35
  • 82 (a)
ManyToMany
Gm11562 35
  • 79 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 46 (a)
ManyToMany
-- 35
  • 22 (a)
ManyToMany
Species where no ortholog for KRTAP2-2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for KRTAP2-2 Gene

ENSEMBL:
Gene Tree for KRTAP2-2 (if available)
TreeFam:
Gene Tree for KRTAP2-2 (if available)

Paralogs for KRTAP2-2 Gene

Paralogs for KRTAP2-2 Gene

(5) SIMAP similar genes for KRTAP2-2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with KRTAP2-2: view

Variants for KRTAP2-2 Gene

Sequence variations from dbSNP and Humsavar for KRTAP2-2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs10568283 -- 41,056,099(+) ATTAT(-/TTAT)CAGCC upstream-variant-2KB
rs112223593 -- 41,056,755(+) TTGGC(-/ATT)ACTTT upstream-variant-2KB
rs113813167 -- 41,056,714(+) AAGAC(G/T)GTTCT upstream-variant-2KB
rs138204765 -- 41,056,931(+) ATAAA(C/T)GAGAT upstream-variant-2KB
rs138225228 -- 41,055,812(+) CAGTG(A/G)TTTTT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for KRTAP2-2 Gene

Variant ID Type Subtype PubMed ID
dgv127n111 CNV deletion 26073780
dgv5591n54 CNV loss 21841781
dgv918e212 CNV loss 25503493
dgv919e212 CNV loss 25503493
dgv920e212 CNV loss 25503493
esv24780 CNV loss 19812545
esv2751681 CNV loss 17911159
esv2760468 CNV gain+loss 21179565
esv2762466 CNV loss 21179565
esv3554418 CNV deletion 23714750
esv3582654 CNV loss 25503493
esv3640559 CNV gain 21293372
esv3640567 CNV loss 21293372
esv3640568 CNV loss 21293372
esv3640569 CNV gain 21293372
nsv1055383 CNV gain 25217958
nsv1146669 OTHER inversion 26484159
nsv1160470 CNV duplication 26073780
nsv575002 CNV loss 21841781
nsv575005 CNV loss 21841781
nsv9550 CNV loss 18304495

Variation tolerance for KRTAP2-2 Gene

Gene Damage Index Score: 6.42; 77.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRTAP2-2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP2-2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP2-2 Gene

Disorders for KRTAP2-2 Gene

Relevant External Links for KRTAP2-2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRTAP2-2

No disorders were found for KRTAP2-2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP2-2 Gene

Publications for KRTAP2-2 Gene

  1. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody M.C. … Nusbaum C. (Nature 2006) 3 4 64
  2. Characterization of a cluster of human high/ultrahigh sulfur keratin- associated protein genes embedded in the type I keratin gene domain on chromosome 17q12-21. (PMID: 11279113) Rogers M.A. … Schweizer J. (J. Biol. Chem. 2001) 3 4 64
  3. The sequence of the human genome. (PMID: 11181995) Venter J.C. … Zhu X. (Science 2001) 3 64

Products for KRTAP2-2 Gene

Sources for KRTAP2-2 Gene

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