Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   
X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

PECAM1 (platelet and endothelial cell adhesion molecule 1)

Identity

Alias (NCBI)CD31
CD31/EndoCAM
GPIIA'
PECA1
PECAM-1
endoCAM
HGNC (Hugo) PECAM1
HGNC Alias symbCD31
HGNC Alias nameCD31 antigen
HGNC Previous nameplatelet/endothelial cell adhesion molecule 1
LocusID (NCBI) 5175
Atlas_Id 41689
Location 17q23.3  [Link to chromosome band 17q23]
Location_base_pair Starts at 64319416 and ends at 64390860 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
PEX10 (1p36.32) / PECAM1 (17q23.3)SRSF7 (2p22.1) / PECAM1 (17q23.3)

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Bone: Epithelioid hemangioendothelioma

External links

Nomenclature
HGNC (Hugo)PECAM1   8823
Cards
Entrez_Gene (NCBI)PECAM1  5175  platelet and endothelial cell adhesion molecule 1
AliasesCD31; CD31/EndoCAM; GPIIA'; PECA1; 
PECAM-1; endoCAM
GeneCards (Weizmann)PECAM1
Ensembl hg19 (Hinxton)ENSG00000261371 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000261371 [Gene_View]  ENSG00000261371 [Sequence]  chr17:64319416-64390860 [Contig_View]  PECAM1 [Vega]
ICGC DataPortalENSG00000261371
TCGA cBioPortalPECAM1
AceView (NCBI)PECAM1
Genatlas (Paris)PECAM1
WikiGenes5175
SOURCE (Princeton)PECAM1
Genetics Home Reference (NIH)PECAM1
Genomic and cartography
GoldenPath hg38 (UCSC)PECAM1  -     chr17:64319416-64390860 -  17q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PECAM1  -     17q23.3   [Description]    (hg19-Feb_2009)
GoldenPathPECAM1 - 17q23.3 [CytoView hg19]  PECAM1 - 17q23.3 [CytoView hg38]
ImmunoBaseENSG00000261371
genome Data Viewer NCBIPECAM1 [Mapview hg19]  
OMIM173445   
Gene and transcription
Genbank (Entrez)AF281287 AF281288 AF281289 AF281290 AF281291
RefSeq transcript (Entrez)NM_000442
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PECAM1
Alternative Splicing GalleryENSG00000261371
Gene ExpressionPECAM1 [ NCBI-GEO ]   PECAM1 [ EBI - ARRAY_EXPRESS ]   PECAM1 [ SEEK ]   PECAM1 [ MEM ]
Gene Expression Viewer (FireBrowse)PECAM1 [ Firebrowse - Broad ]
GenevisibleExpression of PECAM1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5175
GTEX Portal (Tissue expression)PECAM1
Human Protein AtlasENSG00000261371-PECAM1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP16284   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP16284  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP16284
Splice isoforms : SwissVarP16284
PhosPhoSitePlusP16284
Domaine pattern : Prosite (Expaxy)IG_LIKE (PS50835)   
Domains : Interpro (EBI)Ig-like_dom    Ig-like_dom_sf    Ig-like_fold    Ig_C17orf99    Ig_sub    Ig_sub2   
Domain families : Pfam (Sanger)Ig_2 (PF13895)    Ig_C17orf99 (PF17736)   
Domain families : Pfam (NCBI)pfam13895    pfam17736   
Domain families : Smart (EMBL)IG (SM00409)  IGc2 (SM00408)  
Conserved Domain (NCBI)PECAM1
DMDM Disease mutations5175
Blocks (Seattle)PECAM1
PDB (RSDB)2KY5    5C14    5GNI   
PDB Europe2KY5    5C14    5GNI   
PDB (PDBSum)2KY5    5C14    5GNI   
PDB (IMB)2KY5    5C14    5GNI   
Structural Biology KnowledgeBase2KY5    5C14    5GNI   
SCOP (Structural Classification of Proteins)2KY5    5C14    5GNI   
CATH (Classification of proteins structures)2KY5    5C14    5GNI   
SuperfamilyP16284
Human Protein Atlas [tissue]ENSG00000261371-PECAM1 [tissue]
Peptide AtlasP16284
HPRD01425
IPIIPI00295618   IPI00470719   IPI00470720   IPI00914041   IPI01010172   IPI00871352   
Protein Interaction databases
DIP (DOE-UCLA)P16284
IntAct (EBI)P16284
FunCoupENSG00000261371
BioGRIDPECAM1
STRING (EMBL)PECAM1
ZODIACPECAM1
Ontologies - Pathways
QuickGOP16284
Ontology : AmiGOangiogenesis  endothelial cell morphogenesis  positive regulation of protein phosphorylation  platelet degranulation  transmembrane signaling receptor activity  protein binding  extracellular space  plasma membrane  plasma membrane  integral component of plasma membrane  cell-cell junction  phagocytosis  homophilic cell adhesion via plasma membrane adhesion molecules  leukocyte cell-cell adhesion  signal transduction  cell surface receptor signaling pathway  Rho protein signal transduction  cell recognition  external side of plasma membrane  integral component of membrane  extracellular matrix organization  positive regulation of cell migration  smooth muscle contractile fiber  secretory granule membrane  platelet alpha granule membrane  protein-containing complex  maintenance of permeability of blood-brain barrier  monocyte extravasation  wound healing  positive regulation of tyrosine phosphorylation of STAT protein  protein homodimerization activity  neutrophil degranulation  endothelial cell migration  cell-cell contact zone  membrane raft  positive regulation of peptidyl-tyrosine phosphorylation  leukocyte migration  diapedesis  establishment of endothelial barrier  extracellular exosome  bicellular tight junction assembly  glomerular endothelium development  neutrophil extravasation  endothelial cell-matrix adhesion  cell-cell adhesion  cell-cell adhesion via plasma-membrane adhesion molecules  cell-cell adhesion via plasma-membrane adhesion molecules  
Ontology : EGO-EBIangiogenesis  endothelial cell morphogenesis  positive regulation of protein phosphorylation  platelet degranulation  transmembrane signaling receptor activity  protein binding  extracellular space  plasma membrane  plasma membrane  integral component of plasma membrane  cell-cell junction  phagocytosis  homophilic cell adhesion via plasma membrane adhesion molecules  leukocyte cell-cell adhesion  signal transduction  cell surface receptor signaling pathway  Rho protein signal transduction  cell recognition  external side of plasma membrane  integral component of membrane  extracellular matrix organization  positive regulation of cell migration  smooth muscle contractile fiber  secretory granule membrane  platelet alpha granule membrane  protein-containing complex  maintenance of permeability of blood-brain barrier  monocyte extravasation  wound healing  positive regulation of tyrosine phosphorylation of STAT protein  protein homodimerization activity  neutrophil degranulation  endothelial cell migration  cell-cell contact zone  membrane raft  positive regulation of peptidyl-tyrosine phosphorylation  leukocyte migration  diapedesis  establishment of endothelial barrier  extracellular exosome  bicellular tight junction assembly  glomerular endothelium development  neutrophil extravasation  endothelial cell-matrix adhesion  cell-cell adhesion  cell-cell adhesion via plasma-membrane adhesion molecules  cell-cell adhesion via plasma-membrane adhesion molecules  
Pathways : KEGGCell adhesion molecules (CAMs)    Leukocyte transendothelial migration    Malaria   
NDEx NetworkPECAM1
Atlas of Cancer Signalling NetworkPECAM1
Wikipedia pathwaysPECAM1
Orthology - Evolution
OrthoDB5175
GeneTree (enSembl)ENSG00000261371
Phylogenetic Trees/Animal Genes : TreeFamPECAM1
HOGENOMP16284
Homologs : HomoloGenePECAM1
Homology/Alignments : Family Browser (UCSC)PECAM1
Gene fusions - Rearrangements
Fusion Cancer (Beijing)PEX10 [1p36.32]  -  PECAM1 [17q23.3]  [FUSC000148]  [FUSC000148]  [FUSC000148]
Fusion : QuiverPECAM1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPECAM1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PECAM1
dbVarPECAM1
ClinVarPECAM1
MonarchPECAM1
1000_GenomesPECAM1 
Exome Variant ServerPECAM1
GNOMAD BrowserENSG00000261371
Varsome BrowserPECAM1
Genetic variants : HAPMAP5175
Genomic Variants (DGV)PECAM1 [DGVbeta]
DECIPHERPECAM1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPECAM1 
Mutations
ICGC Data PortalPECAM1 
TCGA Data PortalPECAM1 
Broad Tumor PortalPECAM1
OASIS PortalPECAM1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPECAM1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPECAM1
Mutations and Diseases : HGMDPECAM1
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 PECAM1
DgiDB (Drug Gene Interaction Database)PECAM1
DoCM (Curated mutations)PECAM1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PECAM1 (select a term)
intoGenPECAM1
Cancer3DPECAM1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM173445   
Orphanet
DisGeNETPECAM1
MedgenPECAM1
Genetic Testing Registry PECAM1
NextProtP16284 [Medical]
TSGene5175
GENETestsPECAM1
Target ValidationPECAM1
Huge Navigator PECAM1 [HugePedia]
snp3D : Map Gene to Disease5175
BioCentury BCIQPECAM1
ClinGenPECAM1
Clinical trials, drugs, therapy
Protein Interactions : CTD5175
Pharm GKB GenePA33167
Clinical trialPECAM1
Miscellaneous
canSAR (ICR)PECAM1 (select the gene name)
HarmonizomePECAM1
DataMed IndexPECAM1
Probes
Litterature
PubMed307 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePECAM1
EVEXPECAM1
GoPubMedPECAM1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 14 14:26:21 CEST 2020
Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.