Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PCLO (piccolo presynaptic cytomatrix protein)

Identity

Alias_namespiccolo (presynaptic cytomatrix protein)
Alias_symbol (synonym)KIAA0559
DKFZp779G1236
ACZ
Other aliasPCH3
HGNC (Hugo) PCLO
LocusID (NCBI) 27445
Atlas_Id 71763
Location 7q21.11  [Link to chromosome band 7q21]
Location_base_pair Starts at 82820480 and ends at 83162881 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
C5orf15 (5q31.1) / PCLO (7q21.11)CECR2 (22q11.1) / PCLO (7q21.11)FLJ16124 () / PCLO (7q21.11)
MBIP (14q13.3) / PCLO (7q21.11)PCLO (7q21.11) / OPN1LW (Xq28)RABGGTB (1p31.1) / PCLO (7q21.11)
TRERF1 (6p21.1) / PCLO (7q21.11)

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)PCLO   13406
Cards
Entrez_Gene (NCBI)PCLO  27445  piccolo presynaptic cytomatrix protein
AliasesACZ; PCH3
GeneCards (Weizmann)PCLO
Ensembl hg19 (Hinxton)ENSG00000186472 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000186472 [Gene_View]  chr7:82820480-83162881 [Contig_View]  PCLO [Vega]
ICGC DataPortalENSG00000186472
TCGA cBioPortalPCLO
AceView (NCBI)PCLO
Genatlas (Paris)PCLO
WikiGenes27445
SOURCE (Princeton)PCLO
Genetics Home Reference (NIH)PCLO
Genomic and cartography
GoldenPath hg38 (UCSC)PCLO  -     chr7:82820480-83162881 -  7q21.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PCLO  -     7q21.11   [Description]    (hg19-Feb_2009)
EnsemblPCLO - 7q21.11 [CytoView hg19]  PCLO - 7q21.11 [CytoView hg38]
Mapping of homologs : NCBIPCLO [Mapview hg19]  PCLO [Mapview hg38]
OMIM604918   608027   
Gene and transcription
Genbank (Entrez)AB011131 AI692861 AK125999 AK297315 BC001304
RefSeq transcript (Entrez)NM_014510 NM_033026
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PCLO
Cluster EST : UnigeneHs.12376 [ NCBI ]
CGAP (NCI)Hs.12376
Alternative Splicing GalleryENSG00000186472
Gene ExpressionPCLO [ NCBI-GEO ]   PCLO [ EBI - ARRAY_EXPRESS ]   PCLO [ SEEK ]   PCLO [ MEM ]
Gene Expression Viewer (FireBrowse)PCLO [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27445
GTEX Portal (Tissue expression)PCLO
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y6V0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y6V0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y6V0
Splice isoforms : SwissVarQ9Y6V0
PhosPhoSitePlusQ9Y6V0
Domaine pattern : Prosite (Expaxy)C2 (PS50004)   
Domains : Interpro (EBI)C2_dom    Piccolo    Synaptotagmin    Znf_FYVE_PHD    Znf_piccolo    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)C2 (PF00168)    zf-piccolo (PF05715)   
Domain families : Pfam (NCBI)pfam00168    pfam05715   
Domain families : Smart (EMBL)C2 (SM00239)  
Conserved Domain (NCBI)PCLO
DMDM Disease mutations27445
Blocks (Seattle)PCLO
PDB (SRS)1UJD   
PDB (PDBSum)1UJD   
PDB (IMB)1UJD   
PDB (RSDB)1UJD   
Structural Biology KnowledgeBase1UJD   
SCOP (Structural Classification of Proteins)1UJD   
CATH (Classification of proteins structures)1UJD   
SuperfamilyQ9Y6V0
Human Protein AtlasENSG00000186472
Peptide AtlasQ9Y6V0
HPRD16078
IPIIPI00411656   IPI00789624   IPI00515102   IPI00843855   IPI00968106   IPI01014960   IPI00903099   IPI00924457   IPI00927706   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y6V0
IntAct (EBI)Q9Y6V0
FunCoupENSG00000186472
BioGRIDPCLO
STRING (EMBL)PCLO
ZODIACPCLO
Ontologies - Pathways
QuickGOQ9Y6V0
Ontology : AmiGOcalcium ion binding  profilin binding  calcium-dependent phospholipid binding  cytoskeleton  cytoskeleton organization  synapse assembly  postsynaptic density  membrane  synaptic vesicle exocytosis  regulation of exocytosis  cAMP-mediated signaling  cell junction  insulin secretion  protein localization to synapse  synapse  cytoskeleton of presynaptic active zone  extracellular exosome  presynapse to nucleus signaling pathway  
Ontology : EGO-EBIcalcium ion binding  profilin binding  calcium-dependent phospholipid binding  cytoskeleton  cytoskeleton organization  synapse assembly  postsynaptic density  membrane  synaptic vesicle exocytosis  regulation of exocytosis  cAMP-mediated signaling  cell junction  insulin secretion  protein localization to synapse  synapse  cytoskeleton of presynaptic active zone  extracellular exosome  presynapse to nucleus signaling pathway  
Pathways : BIOCARTASynaptic Proteins at the Synaptic Junction [Genes]   
Pathways : KEGGInsulin secretion   
NDEx NetworkPCLO
Atlas of Cancer Signalling NetworkPCLO
Wikipedia pathwaysPCLO
Orthology - Evolution
OrthoDB27445
GeneTree (enSembl)ENSG00000186472
Phylogenetic Trees/Animal Genes : TreeFamPCLO
HOVERGENQ9Y6V0
HOGENOMQ9Y6V0
Homologs : HomoloGenePCLO
Homology/Alignments : Family Browser (UCSC)PCLO
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPCLO [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PCLO
dbVarPCLO
ClinVarPCLO
1000_GenomesPCLO 
Exome Variant ServerPCLO
ExAC (Exome Aggregation Consortium)PCLO (select the gene name)
Genetic variants : HAPMAP27445
Genomic Variants (DGV)PCLO [DGVbeta]
DECIPHERPCLO [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPCLO 
Mutations
ICGC Data PortalPCLO 
TCGA Data PortalPCLO 
Broad Tumor PortalPCLO
OASIS PortalPCLO [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPCLO  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPCLO
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 PCLO
DgiDB (Drug Gene Interaction Database)PCLO
DoCM (Curated mutations)PCLO (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PCLO (select a term)
intoGenPCLO
Cancer3DPCLO(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604918    608027   
Orphanet12868   
MedgenPCLO
Genetic Testing Registry PCLO
NextProtQ9Y6V0 [Medical]
TSGene27445
GENETestsPCLO
Target ValidationPCLO
Huge Navigator PCLO [HugePedia]
snp3D : Map Gene to Disease27445
BioCentury BCIQPCLO
ClinGenPCLO
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD27445
Chemical/Pharm GKB GenePA33072
Clinical trialPCLO
Miscellaneous
canSAR (ICR)PCLO (select the gene name)
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePCLO
EVEXPCLO
GoPubMedPCLO
iHOPPCLO
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Wed May 31 15:35:51 CEST 2017

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