Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PCSK2 (proprotein convertase subtilisin/kexin type 2)

Identity

Alias_namesNEC2
Alias_symbol (synonym)PC2
SPC2
Other aliasNEC 2
NEC-2
HGNC (Hugo) PCSK2
LocusID (NCBI) 5126
Atlas_Id 46395
Location 20p12.1  [Link to chromosome band 20p12]
Location_base_pair Starts at 17206752 and ends at 17465222 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
PCSK2 (20p12.1) / CHCHD3 (7q32.3)PCSK2 (20p12.1) / SMAD4 (18q21.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PCSK2   8744
Cards
Entrez_Gene (NCBI)PCSK2  5126  proprotein convertase subtilisin/kexin type 2
AliasesNEC; NEC-2; NEC2; PC2; 
SPC2
GeneCards (Weizmann)PCSK2
Ensembl hg19 (Hinxton)ENSG00000125851 [Gene_View]  chr20:17206752-17465222 [Contig_View]  PCSK2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000125851 [Gene_View]  chr20:17206752-17465222 [Contig_View]  PCSK2 [Vega]
ICGC DataPortalENSG00000125851
TCGA cBioPortalPCSK2
AceView (NCBI)PCSK2
Genatlas (Paris)PCSK2
WikiGenes5126
SOURCE (Princeton)PCSK2
Genetics Home Reference (NIH)PCSK2
Genomic and cartography
GoldenPath hg19 (UCSC)PCSK2  -     chr20:17206752-17465222 +  20p12.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PCSK2  -     20p12.1   [Description]    (hg38-Dec_2013)
EnsemblPCSK2 - 20p12.1 [CytoView hg19]  PCSK2 - 20p12.1 [CytoView hg38]
Mapping of homologs : NCBIPCSK2 [Mapview hg19]  PCSK2 [Mapview hg38]
OMIM162151   
Gene and transcription
Genbank (Entrez)AK091505 AK294200 AK312341 BC001905 BC005815
RefSeq transcript (Entrez)NM_001201528 NM_001201529 NM_002594
RefSeq genomic (Entrez)NC_000020 NC_018931 NT_011387 NW_004929416
Consensus coding sequences : CCDS (NCBI)PCSK2
Cluster EST : UnigeneHs.315186 [ NCBI ]
CGAP (NCI)Hs.315186
Alternative Splicing GalleryENSG00000125851
Gene ExpressionPCSK2 [ NCBI-GEO ]   PCSK2 [ EBI - ARRAY_EXPRESS ]   PCSK2 [ SEEK ]   PCSK2 [ MEM ]
Gene Expression Viewer (FireBrowse)PCSK2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5126
GTEX Portal (Tissue expression)PCSK2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP16519   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP16519  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP16519
Splice isoforms : SwissVarP16519
Catalytic activity : Enzyme3.4.21.94 [ Enzyme-Expasy ]   3.4.21.943.4.21.94 [ IntEnz-EBI ]   3.4.21.94 [ BRENDA ]   3.4.21.94 [ KEGG ]   
PhosPhoSitePlusP16519
Domaine pattern : Prosite (Expaxy)SUBTILASE_ASP (PS00136)    SUBTILASE_HIS (PS00137)    SUBTILASE_SER (PS00138)   
Domains : Interpro (EBI)Galactose-bd-like    Peptidase_S8/S53_dom    Peptidase_S8_Asp-AS    Peptidase_S8_His-AS    Peptidase_S8_Ser-AS    Peptidase_S8_subtilisin-rel    Prot_inh_propept    PrprotnconvertsP    S8_pro-domain   
Domain families : Pfam (Sanger)P_proprotein (PF01483)    Peptidase_S8 (PF00082)    S8_pro-domain (PF16470)   
Domain families : Pfam (NCBI)pfam01483    pfam00082    pfam16470   
Conserved Domain (NCBI)PCSK2
DMDM Disease mutations5126
Blocks (Seattle)PCSK2
SuperfamilyP16519
Human Protein AtlasENSG00000125851
Peptide AtlasP16519
HPRD01202
IPIIPI00029131   IPI00980710   IPI00643663   
Protein Interaction databases
DIP (DOE-UCLA)P16519
IntAct (EBI)P16519
FunCoupENSG00000125851
BioGRIDPCSK2
STRING (EMBL)PCSK2
ZODIACPCSK2
Ontologies - Pathways
QuickGOP16519
Ontology : AmiGOserine-type endopeptidase activity  serine-type endopeptidase activity  protein binding  extracellular space  proteolysis  nervous system development  membrane  protein autoprocessing  insulin processing  transport vesicle  dendrite  protein complex binding  enkephalin processing  islet amyloid polypeptide processing  secretory granule lumen  perikaryon  
Ontology : EGO-EBIserine-type endopeptidase activity  serine-type endopeptidase activity  protein binding  extracellular space  proteolysis  nervous system development  membrane  protein autoprocessing  insulin processing  transport vesicle  dendrite  protein complex binding  enkephalin processing  islet amyloid polypeptide processing  secretory granule lumen  perikaryon  
NDEx NetworkPCSK2
Atlas of Cancer Signalling NetworkPCSK2
Wikipedia pathwaysPCSK2
Orthology - Evolution
OrthoDB5126
GeneTree (enSembl)ENSG00000125851
Phylogenetic Trees/Animal Genes : TreeFamPCSK2
HOVERGENP16519
HOGENOMP16519
Homologs : HomoloGenePCSK2
Homology/Alignments : Family Browser (UCSC)PCSK2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPCSK2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PCSK2
dbVarPCSK2
ClinVarPCSK2
1000_GenomesPCSK2 
Exome Variant ServerPCSK2
ExAC (Exome Aggregation Consortium)PCSK2 (select the gene name)
Genetic variants : HAPMAP5126
Genomic Variants (DGV)PCSK2 [DGVbeta]
DECIPHER (Syndromes)20:17206752-17465222  ENSG00000125851
CONAN: Copy Number AnalysisPCSK2 
Mutations
ICGC Data PortalPCSK2 
TCGA Data PortalPCSK2 
Broad Tumor PortalPCSK2
OASIS PortalPCSK2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPCSK2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPCSK2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PCSK2
DgiDB (Drug Gene Interaction Database)PCSK2
DoCM (Curated mutations)PCSK2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PCSK2 (select a term)
intoGenPCSK2
Cancer3DPCSK2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM162151   
Orphanet
MedgenPCSK2
Genetic Testing Registry PCSK2
NextProtP16519 [Medical]
TSGene5126
GENETestsPCSK2
Huge Navigator PCSK2 [HugePedia]
snp3D : Map Gene to Disease5126
BioCentury BCIQPCSK2
ClinGenPCSK2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5126
Chemical/Pharm GKB GenePA33091
Clinical trialPCSK2
Miscellaneous
canSAR (ICR)PCSK2 (select the gene name)
Probes
Litterature
PubMed59 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePCSK2
EVEXPCSK2
GoPubMedPCSK2
iHOPPCSK2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:20:43 CET 2017

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