Aliases for KRTCAP2 Gene

Aliases for KRTCAP2 Gene

  • Keratinocyte Associated Protein 2 2 3 5
  • Dolichyl-Diphosphooligosaccharide--Protein Glycosyltransferase Subunit KCP2 3 4
  • Oligosaccharyl Transferase Subunit KCP2 3 4
  • Keratinocyte-Associated Protein 2 3 4
  • KCP-2 3 4
  • KCP2 3 4
  • Keratinocytes Associated Protein 2 3

External Ids for KRTCAP2 Gene

Previous GeneCards Identifiers for KRTCAP2 Gene

  • GC01M152358
  • GC01M151954
  • GC01M153408
  • GC01M126504

Summaries for KRTCAP2 Gene

GeneCards Summary for KRTCAP2 Gene

KRTCAP2 (Keratinocyte Associated Protein 2) is a Protein Coding gene. Diseases associated with KRTCAP2 include Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I and Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia.

UniProtKB/Swiss-Prot Summary for KRTCAP2 Gene

  • Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity (PubMed:22467853). May be involved in N-glycosylation of APP (amyloid-beta precursor protein). Can modulate gamma-secretase cleavage of APP by enhancing endoprotelysis of PSEN1 (PubMed:21768116).

Additional gene information for KRTCAP2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRTCAP2 Gene

Genomics for KRTCAP2 Gene

GeneHancer (GH) Regulatory Elements for KRTCAP2 Gene

Promoters and enhancers for KRTCAP2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRTCAP2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRTCAP2

Top Transcription factor binding sites by QIAGEN in the KRTCAP2 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun

Genomic Locations for KRTCAP2 Gene

Genomic Locations for KRTCAP2 Gene
chr1:155,169,408-155,173,475
(GRCh38/hg38)
Size:
4,068 bases
Orientation:
Minus strand
chr1:155,141,884-155,145,951
(GRCh37/hg19)
Size:
4,068 bases
Orientation:
Minus strand

Genomic View for KRTCAP2 Gene

Genes around KRTCAP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTCAP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTCAP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTCAP2 Gene

Proteins for KRTCAP2 Gene

  • Protein details for KRTCAP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N6L1-KTAP2_HUMAN
    Recommended name:
    Keratinocyte-associated protein 2
    Protein Accession:
    Q8N6L1
    Secondary Accessions:
    • B2R4Q1
    • Q6PG45
    • Q86XW2
    • Q8IWS4

    Protein attributes for KRTCAP2 Gene

    Size:
    136 amino acids
    Molecular mass:
    14679 Da
    Quaternary structure:
    • Component of the oligosaccharyltransferase (OST) complex. OST exists in two different complex forms which contain common core subunits RPN1, RPN2, OST48, OST4, DAD1 and TMEM258, either STT3A or STT3B as catalytic subunits, and form-specific accessory subunits (PubMed:22266900). STT3A complex assembly occurs through the formation of 3 subcomplexes. Subcomplex 1 contains RPN1 and TMEM258, subcomplex 2 contains the STT3A-specific subunits STT3A, DC2/OSTC, and KCP2 as well as the core subunit OST4, and subcomplex 3 contains RPN2, DAD1, and OST48. The STT3A complex can form stable complexes with the Sec61 complex or with both the Sec61 and TRAP complexes (By similarity). Interacts with PSEN1 and NCSTN; indicative for an association with the gamma-secretase complex (PubMed:21768116).
    Miscellaneous:
    • [Isoform 2]: Produced at low levels due to suboptimal Kozak context.

    Alternative splice isoforms for KRTCAP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KRTCAP2 Gene

Post-translational modifications for KRTCAP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRTCAP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTCAP2 Gene

Domains & Families for KRTCAP2 Gene

Gene Families for KRTCAP2 Gene

Protein Domains for KRTCAP2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTCAP2 Gene

GenScript: Design optimal peptide antigens:
  • Keratinocyte-associated protein 2 (KTAP2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N6L1

UniProtKB/Swiss-Prot:

KTAP2_HUMAN :
  • Belongs to the KRTCAP2 family.
Family:
  • Belongs to the KRTCAP2 family.
genes like me logo Genes that share domains with KRTCAP2: view

Function for KRTCAP2 Gene

Molecular function for KRTCAP2 Gene

UniProtKB/Swiss-Prot Function:
Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity (PubMed:22467853). May be involved in N-glycosylation of APP (amyloid-beta precursor protein). Can modulate gamma-secretase cleavage of APP by enhancing endoprotelysis of PSEN1 (PubMed:21768116).

Phenotypes From GWAS Catalog for KRTCAP2 Gene

Gene Ontology (GO) - Molecular Function for KRTCAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with KRTCAP2: view
genes like me logo Genes that share phenotypes with KRTCAP2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for KRTCAP2

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRTCAP2 Gene

Localization for KRTCAP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KRTCAP2 Gene

Endoplasmic reticulum. Endoplasmic reticulum membrane; Multi-pass membrane protein.

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 KRTCAP2 gene
Compartment Confidence
plasma membrane 3
endoplasmic reticulum 3
extracellular 1
nucleus 1
cytosol 1
golgi apparatus 1
mitochondrion 0

Gene Ontology (GO) - Cellular Components for KRTCAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0008250 colocalizes_with oligosaccharyltransferase complex ISS,IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with KRTCAP2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KRTCAP2 Gene

Pathways & Interactions for KRTCAP2 Gene

PathCards logo

SuperPathways for KRTCAP2 Gene

No Data Available

UniProtKB/Swiss-Prot Q8N6L1-KTAP2_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for KRTCAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0042543 protein N-linked glycosylation via arginine IMP 22467853
genes like me logo Genes that share ontologies with KRTCAP2: view

No data available for Pathways by source and SIGNOR curated interactions for KRTCAP2 Gene

Drugs & Compounds for KRTCAP2 Gene

No Compound Related Data Available

Transcripts for KRTCAP2 Gene

mRNA/cDNA for KRTCAP2 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KRTCAP2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d
SP1: - -
SP2: - -
SP3: -
SP4: - - -
SP5: - - -

Relevant External Links for KRTCAP2 Gene

GeneLoc Exon Structure for
KRTCAP2

Expression for KRTCAP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRTCAP2 Gene

Protein differential expression in normal tissues from HIPED for KRTCAP2 Gene

This gene is overexpressed in Liver (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KRTCAP2 Gene



Protein tissue co-expression partners for KRTCAP2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRTCAP2

SOURCE GeneReport for Unigene cluster for KRTCAP2 Gene:

Hs.516671

mRNA Expression by UniProt/SwissProt for KRTCAP2 Gene:

Q8N6L1-KTAP2_HUMAN
Tissue specificity: Expressed in skin, heart, placental, liver, skeletal muscle, kidney, pancreas, keratinocytes and dermal fibroblasts.

Evidence on tissue expression from TISSUES for KRTCAP2 Gene

  • Nervous system(4.6)
  • Stomach(4.5)
  • Intestine(4.4)
  • Kidney(4.4)
  • Skin(4.3)
  • Lung(4.1)
  • Liver(3)
  • Muscle(2.2)
  • Heart(2)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with KRTCAP2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRTCAP2 Gene

Orthologs for KRTCAP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for KRTCAP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRTCAP2 31 30
  • 99.59 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KRTCAP2 31 30
  • 93.87 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KRTCAP2 31 30
  • 91.18 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Krtcap2 30
  • 90.64 (n)
mouse
(Mus musculus)
Mammalia Krtcap2 17 31 30
  • 89.46 (n)
oppossum
(Monodelphis domestica)
Mammalia KRTCAP2 31
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KRTCAP2 31
  • 79 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.22211 30
zebrafish
(Danio rerio)
Actinopterygii krtcap2 31 30
  • 71.6 (n)
OneToOne
Dr.17589 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10836 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003126 30
  • 59.09 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG31460 31 30
  • 52.61 (n)
OneToOne
Species where no ortholog for KRTCAP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)

Evolution for KRTCAP2 Gene

ENSEMBL:
Gene Tree for KRTCAP2 (if available)
TreeFam:
Gene Tree for KRTCAP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRTCAP2: view image

Paralogs for KRTCAP2 Gene

Pseudogenes.org Pseudogenes for KRTCAP2 Gene

genes like me logo Genes that share paralogs with KRTCAP2: view

No data available for Paralogs for KRTCAP2 Gene

Variants for KRTCAP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRTCAP2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs17854920 - p.Gly4Val

Additional dbSNP identifiers (rs#s) for KRTCAP2 Gene

Structural Variations from Database of Genomic Variants (DGV) for KRTCAP2 Gene

Variant ID Type Subtype PubMed ID
dgv3n68 CNV loss 17160897
esv2758971 CNV gain 17122850
esv3587615 CNV gain 21293372
nsv1010146 CNV gain 25217958
nsv464084 CNV loss 19166990
nsv470741 CNV loss 18288195
nsv547961 CNV loss 21841781
nsv8447 CNV gain 18304495

Variation tolerance for KRTCAP2 Gene

Residual Variation Intolerance Score: 37.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.39; 8.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRTCAP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTCAP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTCAP2 Gene

Disorders for KRTCAP2 Gene

Additional Disease Information for KRTCAP2

genes like me logo Genes that share disorders with KRTCAP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KRTCAP2 Gene

Publications for KRTCAP2 Gene

  1. Keratinocyte-associated protein 2 is a bona fide subunit of the mammalian oligosaccharyltransferase. (PMID: 22266900) Roboti P … High S (Journal of cell science 2012) 2 3 4 54
  2. The oligosaccharyltransferase subunits OST48, DAD1 and KCP2 function as ubiquitous and selective modulators of mammalian N-glycosylation. (PMID: 22467853) Roboti P … High S (Journal of cell science 2012) 3 4 54
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 54
  4. Proteomic analysis of mammalian oligosaccharyltransferase reveals multiple subcomplexes that contain Sec61, TRAP, and two potential new subunits. (PMID: 15835887) Shibatani T … Skach WR (Biochemistry 2005) 2 3 54
  5. 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 54

Products for KRTCAP2 Gene

Sources for KRTCAP2 Gene