PECAM1 Gene (Protein Coding)

Platelet And Endothelial Cell Adhesion Molecule 1

GC17M064319
GIFtS:
40
The protein encoded by this gene is found on the surface of platelets, monocytes, neutrophils, and some types of T-cells, and makes up a large portion of endothelial cell intercellular junctions. The encoded protein is a member of the immunoglobulin superfamily and is likely involved in leukocyte migration, angiogenesis, and integrin activation. [provided by RefSeq, May 2010] See more...

Aliases for PECAM1 Gene

Aliases for PECAM1 Gene

  • Platelet And Endothelial Cell Adhesion Molecule 1 2 3 5
  • CD31 Antigen 2 3 4
  • Platelet Endothelial Cell Adhesion Molecule 3 4
  • PECAM-1 3 4
  • EndoCAM 3 4
  • GPIIA' 3 4
  • PECA1 3 4
  • CD31 2 3
  • Platelet/Endothelial Cell Adhesion Molecule 1 2
  • Platelet Endothelial Cell Adhesion Molecule-1 3
  • CD31/EndoCAM 3
  • PECAM1 5

External Ids for PECAM1 Gene

Previous GeneCards Identifiers for PECAM1 Gene

  • GC17U990071
  • GC17M064827
  • GC17M062740
  • GC17M062873
  • GC17M059754
  • GC17M062399

Summaries for PECAM1 Gene

Entrez Gene Summary for PECAM1 Gene

  • The protein encoded by this gene is found on the surface of platelets, monocytes, neutrophils, and some types of T-cells, and makes up a large portion of endothelial cell intercellular junctions. The encoded protein is a member of the immunoglobulin superfamily and is likely involved in leukocyte migration, angiogenesis, and integrin activation. [provided by RefSeq, May 2010]

GeneCards Summary for PECAM1 Gene

PECAM1 (Platelet And Endothelial Cell Adhesion Molecule 1) is a Protein Coding gene. Diseases associated with PECAM1 include Angiosarcoma and Capillary Hemangioma. Among its related pathways are Degradation of the extracellular matrix and Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling. An important paralog of this gene is FCRL5.

UniProtKB/Swiss-Prot Summary for PECAM1 Gene

  • Cell adhesion molecule which is required for leukocyte transendothelial migration (TEM) under most inflammatory conditions (PubMed:19342684, PubMed:17580308). Tyr-690 plays a critical role in TEM and is required for efficient trafficking of PECAM1 to and from the lateral border recycling compartment (LBRC) and is also essential for the LBRC membrane to be targeted around migrating leukocytes (PubMed:19342684). Trans-homophilic interaction may play a role in endothelial cell-cell adhesion via cell junctions (PubMed:27958302). Heterophilic interaction with CD177 plays a role in transendothelial migration of neutrophils (PubMed:17580308). Homophilic ligation of PECAM1 prevents macrophage-mediated phagocytosis of neighboring viable leukocytes by transmitting a detachment signal (PubMed:12110892). Promotes macrophage-mediated phagocytosis of apoptotic leukocytes by tethering them to the phagocytic cells; PECAM1-mediated detachment signal appears to be disabled in apoptotic leukocytes (PubMed:12110892). Modulates bradykinin receptor BDKRB2 activation (PubMed:18672896). Regulates bradykinin- and hyperosmotic shock-induced ERK1/2 activation in endothelial cells (PubMed:18672896). Induces susceptibility to atherosclerosis (By similarity).
  • [Isoform Delta15]: Does not protect against apoptosis.

Gene Wiki entry for PECAM1 Gene

Additional gene information for PECAM1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PECAM1 Gene

Genomics for PECAM1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for PECAM1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH17J064410 Promoter 0.3 Ensembl 600.7 +0.9 943 2.2 PECAM1 ENSG00000239823 TEX2
GH17J064090 Enhancer 1 FANTOM5 ENCODE dbSUPER 20.5 +321.9 321918 1.9 REST PRDM1 EED RUNX3 JUNB SPI1 IRF4 BATF ATF2 MAX PECAM1 ERN1 MAP3K3 DDX5 LIMD2 ICAM2 piR-48325-066 piR-48772-011 lnc-TEX2-3
GH17J064326 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 12.3 +85.9 85875 4.8 GATAD2A IKZF1 NFKBIZ ZNF7 FOXA1 PKNOX1 RXRB ZNF740 SP1 CEBPA PECAM1 ERN1 DDX5 lnc-TEX2-2 piR-51671-042 RF00017-2503 TEX2
GH17J064079 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 6.7 +331.0 330988 6.7 CEBPG HNRNPL GATAD2A ATF7 PRDM10 REST TFE3 LEF1 SOX13 IKZF1 ERN1 CSHL1 GH1 SNORD104 MAP3K3 PECAM1 DDX5 PRR29 LIMD2 ICAM2
GH17J064055 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 7 +357.4 357420 2 ZBTB33 ATF7 TEAD4 ZNF143 IKZF2 PKNOX1 EED DPF2 CTCF RUNX3 lnc-ICAM2-3 ERN1 CSHL1 GH1 SNORD104 PECAM1 SMARCD2 MAP3K3 LIMD2 DDX5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PECAM1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PECAM1

Top Transcription factor binding sites by QIAGEN in the PECAM1 gene promoter:
  • COMP1
  • FOXO1
  • FOXO1a
  • FOXO3
  • FOXO3a
  • FOXO3b
  • FOXO4
  • HNF-3beta
  • NRF-2
  • STAT1

Genomic Locations for PECAM1 Gene

Genomic Locations for PECAM1 Gene
chr17:64,319,415-64,413,844
(GRCh38/hg38)
Size:
94,430 bases
Orientation:
Minus strand
chr17:62,396,775-62,404,856
(GRCh37/hg19)
Size:
8,082 bases
Orientation:
Minus strand

Genomic View for PECAM1 Gene

Genes around PECAM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PECAM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PECAM1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PECAM1 Gene

Proteins for PECAM1 Gene

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  • Protein details for PECAM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P16284-PECA1_HUMAN
    Recommended name:
    Platelet endothelial cell adhesion molecule
    Protein Accession:
    P16284
    Secondary Accessions:
    • A0A075B738
    • A8K3S7
    • D3DU31
    • Q6LDA9
    • Q8TBH1
    • Q96RF5
    • Q96RF6
    • Q9NP65
    • Q9NPB7
    • Q9NPG9
    • Q9NQS9
    • Q9NQT0
    • Q9NQT1
    • Q9NQT2

    Protein attributes for PECAM1 Gene

    Size:
    738 amino acids
    Molecular mass:
    82522 Da
    Quaternary structure:
    • Trans-homodimer (via Ig-like C2-type 1 and Ig-like C2-type 2 domains); trans-homodimerization is required for cell-cell interaction (PubMed:26702061, PubMed:27958302). Forms a complex with BDKRB2 and GNAQ (PubMed:18672896). Interacts with BDKRB2 and GNAQ (PubMed:18672896).Interacts with PTPN11; Tyr-713 is critical for PTPN11 recruitment (PubMed:18388311, PubMed:19342684). Interacts with FER (By similarity). Interacts (via Ig-like C2-type domain 6) with CD177; the interaction is Ca(2+)-dependent; the interaction is direct (PubMed:17580308).

    Three dimensional structures from OCA and Proteopedia for PECAM1 Gene

    Alternative splice isoforms for PECAM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PECAM1 Gene

Protein Expression for PECAM1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PECAM1 Gene

  • Phosphorylated on Ser and Tyr residues after cellular activation by src kinases (PubMed:21464369, PubMed:9298995, PubMed:19342684, PubMed:18710921). Upon activation, phosphorylated on Ser-729 which probably initiates the dissociation of the membrane-interaction segment (residues 709-729) from the cell membrane allowing the sequential phosphorylation of Tyr-713 and Tyr-690 (PubMed:21464369). Constitutively phosphorylated on Ser-734 in resting platelets (PubMed:21464369). Phosphorylated on tyrosine residues by FER and FES in response to FCER1 activation (By similarity). In endothelial cells Fyn mediates mechanical-force (stretch or pull) induced tyrosine phosphorylation (PubMed:18710921).
  • Palmitoylation by ZDHHC21 is necessary for cell surface expression in endothelial cells and enrichment in membrane rafts.
  • Glycosylation at Asn52, Asn84, Asn151, Asn301, Asn320, Asn344, Asn356, Asn453, and Asn551
  • Ubiquitination at Lys446 and Lys543
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • PECA1_HUMAN (1610)

Other Protein References for PECAM1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for PECAM1

No data available for DME Specific Peptides for PECAM1 Gene

Domains & Families for PECAM1 Gene

Gene Families for PECAM1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for PECAM1 Gene

InterPro:
Blocks:
  • Immunoglobulin subtype
ProtoNet:

Suggested Antigen Peptide Sequences for PECAM1 Gene

GenScript: Design optimal peptide antigens:
  • Platelet/endothelial cell adhesion molecule (CD31 antigen), isoform CRA_a (D3DU31_HUMAN)
  • PECA1 (PECA1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P16284

UniProtKB/Swiss-Prot:

PECA1_HUMAN :
  • The Ig-like C2-type domains 2 and 3 contribute to formation of the complex with BDKRB2 and in regulation of its activity.
Domain:
  • The Ig-like C2-type domains 2 and 3 contribute to formation of the complex with BDKRB2 and in regulation of its activity.
genes like me logo Genes that share domains with PECAM1: view

Function for PECAM1 Gene

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Molecular function for PECAM1 Gene

UniProtKB/Swiss-Prot Function:
Cell adhesion molecule which is required for leukocyte transendothelial migration (TEM) under most inflammatory conditions (PubMed:19342684, PubMed:17580308). Tyr-690 plays a critical role in TEM and is required for efficient trafficking of PECAM1 to and from the lateral border recycling compartment (LBRC) and is also essential for the LBRC membrane to be targeted around migrating leukocytes (PubMed:19342684). Trans-homophilic interaction may play a role in endothelial cell-cell adhesion via cell junctions (PubMed:27958302). Heterophilic interaction with CD177 plays a role in transendothelial migration of neutrophils (PubMed:17580308). Homophilic ligation of PECAM1 prevents macrophage-mediated phagocytosis of neighboring viable leukocytes by transmitting a detachment signal (PubMed:12110892). Promotes macrophage-mediated phagocytosis of apoptotic leukocytes by tethering them to the phagocytic cells; PECAM1-mediated detachment signal appears to be disabled in apoptotic leukocytes (PubMed:12110892). Modulates bradykinin receptor BDKRB2 activation (PubMed:18672896). Regulates bradykinin- and hyperosmotic shock-induced ERK1/2 activation in endothelial cells (PubMed:18672896). Induces susceptibility to atherosclerosis (By similarity).
UniProtKB/Swiss-Prot Function:
[Isoform Delta15]: Does not protect against apoptosis.
GENATLAS Biochemistry:
platelet endothelial cell adhesion molecule 1,immunoglobulin superfamily,expressed on circulating platelets,monocytes,neutrophils,subsets of T cells,also a major constituent of the endothelial intercellular cell junction

Phenotypes From GWAS Catalog for PECAM1 Gene

Gene Ontology (GO) - Molecular Function for PECAM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IBA 21873635
GO:0005515 protein binding IPI 9162084
GO:0042803 protein homodimerization activity IDA 26702061
genes like me logo Genes that share ontologies with PECAM1: view
genes like me logo Genes that share phenotypes with PECAM1: view

Animal Models for PECAM1 Gene

MGI Knock Outs for PECAM1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PECAM1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for PECAM1 Gene

Localization for PECAM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PECAM1 Gene

Cell membrane. Single-pass type I membrane protein. Note=Cell surface expression on neutrophils is down-regulated upon fMLP or CXCL8/IL8-mediated stimulation. {ECO:0000269 PubMed:17580308}.
[Isoform Long]: Cell membrane. Single-pass type I membrane protein. Membrane raft. Cell junction. Note=Localizes to the lateral border recycling compartment (LBRC) and recycles from the LBRC to the junction in resting endothelial cells. {ECO:0000269 PubMed:19342684}.
[Isoform Delta15]: Cell junction. Note=Localizes to the lateral border recycling compartment (LBRC) and recycles from the LBRC to the junction in resting endothelial cells.

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 PECAM1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 3
nucleus 3
cytosol 3
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for PECAM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 9290466
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA 21873635
GO:0005911 cell-cell junction IDA 15572031
genes like me logo Genes that share ontologies with PECAM1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PECAM1 Gene

Pathways & Interactions for PECAM1 Gene

genes like me logo Genes that share pathways with PECAM1: view

Pathways by source for PECAM1 Gene

1 GeneGo (Thomson Reuters) pathway for PECAM1 Gene
  • Cell adhesion_Endothelial cell contacts by non-junctional mechanisms
1 Qiagen pathway for PECAM1 Gene
  • Transendothelial Migration of Leukocytes
2 Cell Signaling Technology pathways for PECAM1 Gene

Gene Ontology (GO) - Biological Process for PECAM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0001886 endothelial cell morphogenesis IEA --
GO:0001934 positive regulation of protein phosphorylation IMP 15985432
GO:0002576 platelet degranulation TAS --
GO:0006909 phagocytosis IEA,IDA 12110892
genes like me logo Genes that share ontologies with PECAM1: view

No data available for SIGNOR curated interactions for PECAM1 Gene

Drugs & Compounds for PECAM1 Gene

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(28) Drugs for PECAM1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(32) Additional Compounds for PECAM1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PECAM1: view

Transcripts for PECAM1 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for PECAM1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PECAM1

Alternative Splicing Database (ASD) splice patterns (SP) for PECAM1 Gene

No ASD Table

Relevant External Links for PECAM1 Gene

GeneLoc Exon Structure for
PECAM1

Expression for PECAM1 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PECAM1 Gene

mRNA expression in normal human tissues for PECAM1 Gene
mRNA expression by BioGPS for PECAM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PECAM1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (26.6) and Platelet (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PECAM1 Gene



Protein tissue co-expression partners for PECAM1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PECAM1

SOURCE GeneReport for Unigene cluster for PECAM1 Gene:

Hs.376675

mRNA Expression by UniProt/SwissProt for PECAM1 Gene:

P16284-PECA1_HUMAN
Tissue specificity: Expressed on platelets and leukocytes and is primarily concentrated at the borders between endothelial cells (PubMed:18388311, PubMed:21464369). Expressed in human umbilical vein endothelial cells (HUVECs) (at protein level) (PubMed:19342684, PubMed:17580308). Expressed on neutrophils (at protein level) (PubMed:17580308). Isoform Long predominates in all tissues examined (PubMed:12433657). Isoform Delta12 is detected only in trachea (PubMed:12433657). Isoform Delta14-15 is only detected in lung (PubMed:12433657). Isoform Delta14 is detected in all tissues examined with the strongest expression in heart (PubMed:12433657). Isoform Delta15 is expressed in brain, testis, ovary, cell surface of platelets, human umbilical vein endothelial cells (HUVECs), Jurkat T-cell leukemia, human erythroleukemia (HEL) and U-937 histiocytic lymphoma cell lines (at protein level) (PubMed:12433657, PubMed:18388311).

Evidence on tissue expression from TISSUES for PECAM1 Gene

  • Blood(4.7)
  • Nervous system(4.6)
  • Liver(4.6)
  • Lung(4.5)
  • Heart(4.1)
  • Muscle(3.4)
  • Skin(3.2)
  • Bone marrow(3.2)
  • Bone(3)
  • Kidney(2.9)
  • Lymph node(2.9)
  • Spleen(2.9)
  • Eye(2.8)
  • Intestine(2.8)
  • Pancreas(2.5)
  • Stomach(2.1)
  • Thyroid gland(2.1)
genes like me logo Genes that share expression patterns with PECAM1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PECAM1 Gene

Orthologs for PECAM1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PECAM1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia PECAM1 30
  • 99.19 (n)
Dog
(Canis familiaris)
 Mammalia PECAM1 30
  • 81.28 (n)
Cow
(Bos Taurus)
 Mammalia PECAM1 30
  • 78.61 (n)
Rat
(Rattus norvegicus)
 Mammalia Pecam1 30
  • 73.88 (n)
Mouse
(Mus musculus)
 Mammalia Pecam1 30 17
  • 73.48 (n)
Chicken
(Gallus gallus)
 Aves PECAM1 30
  • 51.12 (n)
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100493686 30
  • 45.85 (n)
Zebrafish
(Danio rerio)
 Actinopterygii si:dkey-237i9.8 30
  • 44.44 (n)
Species where no ortholog for PECAM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • 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)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for PECAM1 Gene

ENSEMBL:
Gene Tree for PECAM1 (if available)
TreeFam:
Gene Tree for PECAM1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PECAM1: view image

Paralogs for PECAM1 Gene

Paralogs for PECAM1 Gene

Pseudogenes.org Pseudogenes for PECAM1 Gene

genes like me logo Genes that share paralogs with PECAM1: view

Variants for PECAM1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PECAM1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
812624 Benign: Three Vessel Coronary Disease 64,356,203(-) C/T MISSENSE_VARIANT
812625 Benign: Three Vessel Coronary Disease 64,350,416(-) T/C MISSENSE_VARIANT
rs12953 -. - p.Ser563Ilep.Ser563Asn
rs281865545 Benign: PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1 POLYMORPHISM; Three Vessel Coronary Disease; not provided. - 64,377,836(-) C/Gp.Val125Leu MISSENSE_VARIANT
rs1131012 - p.Arg670Gly

Additional dbSNP identifiers (rs#s) for PECAM1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PECAM1 Gene

Variant ID Type Subtype PubMed ID
esv1046865 CNV insertion 17803354
esv990152 CNV insertion 20482838
nsv1066968 CNV gain 25217958
nsv2118 CNV insertion 18451855
nsv2119 CNV insertion 18451855
nsv480729 CNV novel sequence insertion 20440878
nsv481581 CNV novel sequence insertion 20440878
nsv507853 OTHER sequence alteration 20534489
nsv509666 CNV insertion 20534489
nsv511058 OTHER complex 20534489
nsv524852 CNV gain 19592680
nsv833512 CNV gain+loss 17160897
nsv833513 CNV loss 17160897

Additional Variant Information for PECAM1 Gene

Human Gene Mutation Database (HGMD)
PECAM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PECAM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for PECAM1 Gene

Disorders for PECAM1 Gene

MalaCards: The human disease database

(148) MalaCards diseases for PECAM1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
angiosarcoma
  • hemangiosarcoma
capillary hemangioma
  • cellular hemangioma of infancy
erythema elevatum diutinum
hemangioma
  • hemangiomas
radiation proctitis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PECAM1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PECAM1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PECAM1 Gene

Publications for PECAM1 Gene

  1. Genetic polymorphisms of adhesion molecules and kidney transplant survival. (PMID: 20220571) Heinold A … Tran TH (Transplantation 2010) 3 23 41
  2. A novel and critical role for tyrosine 663 in platelet endothelial cell adhesion molecule-1 trafficking and transendothelial migration. (PMID: 19342684) Dasgupta B … Muller WA (Journal of immunology (Baltimore, Md. : 1950) 2009) 3 4 23
  3. Platelet-endothelial cell adhesion molecule-1 gene polymorphism and its soluble level are associated with ischemic stroke. (PMID: 19183069) Wei YS … Xie HY (DNA and cell biology 2009) 3 23 41
  4. [Study of association of platelet endothelial cell adhesion molecule-1 gene polymorphism with acute myocardial infarction]. (PMID: 19570335) Fu XL … Xia ZH (Zhongguo wei zhong bing ji jiu yi xue = Chinese critical care medicine = Zhongguo weizhongbing jijiuyixue 2009) 3 23 41
  5. Polymorphism in ICAM-1, PECAM-1, E-selectin, and L-selectin genes in Tunisian patients with inflammatory bowel disease. (PMID: 19212205) Khazen D … Ayed K (European journal of gastroenterology & hepatology 2009) 3 23 41

ExternalLinks

View latest publications for PECAM1 gene in Mastermind

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