PECAM1

gene
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Also known as CD31

Summary

PECAM1 (platelet and endothelial cell adhesion molecule 1, HGNC:8823) is a protein-coding gene on chromosome 17q23.3, encoding Platelet endothelial cell adhesion molecule (P16284). Cell adhesion molecule which is required for leukocyte transendothelial migration (TEM) under most inflammatory conditions.

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.

Source: NCBI Gene 5175 — RefSeq curated summary.

At a glance

  • GWAS associations: 11
  • Clinical variants (ClinVar): 3 total
  • MANE Select transcript: NM_000442

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:8823
Approved symbolPECAM1
Nameplatelet and endothelial cell adhesion molecule 1
Location17q23.3
Locus typegene with protein product
StatusApproved
AliasesCD31
Ensembl geneENSG00000261371
Ensembl biotypeprotein_coding
OMIM173445
Entrez5175

Gene structure

Transcript identifiers

Ensembl transcripts: 42 — 37 protein_coding, 5 protein_coding_CDS_not_defined

ENST00000561739, ENST00000563523, ENST00000563924, ENST00000564866, ENST00000566422, ENST00000566616, ENST00000568702, ENST00000569530, ENST00000569967, ENST00000904873, ENST00000904874, ENST00000904875, ENST00000904876, ENST00000904877, ENST00000904878, ENST00000904879, ENST00000904880, ENST00000904881, ENST00000904882, ENST00000904883, ENST00000904884, ENST00000904885, ENST00000904886, ENST00000904887, ENST00000904888, ENST00000904889, ENST00000904890, ENST00000904891, ENST00000904892, ENST00000951541, ENST00000951542, ENST00000951543, ENST00000951544, ENST00000951545, ENST00000951546, ENST00000951547, ENST00000951548, ENST00000951549, ENST00000951550, ENST00000951551, ENST00000951552, ENST00000951553

RefSeq mRNA: 1 — MANE Select: NM_000442 NM_000442

CCDS: CCDS74132

Canonical transcript exons

ENST00000563924 — 16 exons

ExonStartEnd
ENSE000025758786436314964363397
ENSE000025797756435038064350433
ENSE000025808996431941564323845
ENSE000025919546435493364355040
ENSE000025929046439048964390515
ENSE000025984746435349164353518
ENSE000026052046434163464341690
ENSE000026064526434826064348322
ENSE000026146766439060264390860
ENSE000026211596435611164356398
ENSE000026231646432970064329722
ENSE000026272786435239064352463
ENSE000026287426436014064360415
ENSE000035200176436975064370025
ENSE000036057636437782464378117
ENSE000037896686437505164375356

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 99.92.

FANTOM5 (CAGE): breadth broad, TPM avg 56.3368 / max 3052.4492, expressed in 842 samples.

FANTOM5 promoters (16 alternative TSS)

Promoter IDTPM avgSamples expressed
20833724.3398453
20833114.7190532
2083364.9143329
2083453.9932346
2083331.6702267
2083351.5378245
2083321.4127342
2083381.2872374
2083410.635384
2083420.5514118

Top tissues by expression

295 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
tendon of biceps brachiiUBERON:000818899.92gold quality
visceral pleuraUBERON:000240199.39gold quality
lower lobe of lungUBERON:000894999.36gold quality
pericardiumUBERON:000240799.30gold quality
right lungUBERON:000216799.25gold quality
pleuraUBERON:000097799.20gold quality
parietal pleuraUBERON:000240099.09gold quality
monocyteCL:000057699.08gold quality
mononuclear cellCL:000084299.03gold quality
leukocyteCL:000073898.97gold quality
lungUBERON:000204898.81gold quality
upper lobe of lungUBERON:000894898.60gold quality
colonic epitheliumUBERON:000039798.59gold quality
upper lobe of left lungUBERON:000895298.53gold quality
calcaneal tendonUBERON:000370198.41gold quality
skin of hipUBERON:000155498.38gold quality
bone marrow cellCL:000209298.26gold quality
placentaUBERON:000198798.20gold quality
vena cavaUBERON:000408798.20gold quality
tendonUBERON:000004398.10gold quality
gall bladderUBERON:000211098.05gold quality
bloodUBERON:000017897.85gold quality
layer of synovial tissueUBERON:000761697.82gold quality
subcutaneous adipose tissueUBERON:000219097.72gold quality
adipose tissueUBERON:000101397.68gold quality
superficial temporal arteryUBERON:000161497.68gold quality
adipose tissue of abdominal regionUBERON:000780897.63gold quality
omental fat padUBERON:001041497.60gold quality
vermiform appendixUBERON:000115497.59gold quality
peritoneumUBERON:000235897.58gold quality

Single-cell (SCXA)

Detected in 36 experiment(s), a significant marker in 35.

ExperimentMarker?Max mean expression
E-MTAB-9543yes3440.76
E-MTAB-5061yes2827.83
E-GEOD-83139yes2822.52
E-HCAD-15yes2498.32
E-ANND-2yes1883.47
E-CURD-88yes1700.89
E-MTAB-10662yes1407.17
E-CURD-126yes1336.02
E-HCAD-23yes1303.59
E-HCAD-31yes1259.14
E-MTAB-6701yes1156.09
E-MTAB-8142yes1145.88
E-MTAB-8221yes952.67
E-CURD-114yes940.72
E-MTAB-8410yes930.70

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CEBPG, EGR1, ETS1, FOXM1, GATA1, GATA2, HIF1A, IKZF1, NFKB1, NFKB, POU2F1, RELA, SP1, TFAP2A, TRPS1, YY1

miRNA regulators (miRDB)

119 targeting PECAM1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-6867-5P100.0082.213464
HSA-MIR-1252-5P100.0069.802774
HSA-MIR-3924100.0072.092394
HSA-MIR-1213699.9872.815713
HSA-MIR-3065-5P99.9771.563281
HSA-MIR-807599.9767.20962
HSA-MIR-302E99.9670.742669
HSA-MIR-365899.9673.874379
HSA-MIR-651-3P99.9473.485177
HSA-MIR-6508-5P99.9270.672465
HSA-MIR-568099.9169.833421
HSA-MIR-129799.9173.413162
HSA-MIR-130599.9171.433443
HSA-MIR-4731-5P99.8967.232537
HSA-MIR-302A-3P99.8971.231777
HSA-MIR-302B-3P99.8971.231777
HSA-MIR-302C-3P99.8971.201778
HSA-MIR-302D-3P99.8971.251777
HSA-MIR-153-5P99.8973.866317
HSA-MIR-430299.8967.941187
HSA-MIR-612499.8769.783551
HSA-MIR-477999.8666.501583
HSA-MIR-806799.8669.592260
HSA-MIR-383-3P99.8565.841359
HSA-MIR-520E-3P99.8470.551698
HSA-MIR-373-3P99.8470.681668
HSA-MIR-372-3P99.8370.581691
HSA-MIR-520A-3P99.8370.591687
HSA-MIR-520B-3P99.8370.561699
HSA-MIR-520C-3P99.8370.561699

Literature-anchored findings (GeneRIF, showing 40)

  • Premature labor is associated with up-regulation of adhesion molecules in the lower uterine segment. (PMID:11776680)
  • PECAM-1 (CD31) regulates a hydrogen peroxide-activated nonselective cation channel in endothelial cells. (PMID:11927609)
  • data provide evidence of a role for PECAM-1 in human tumor angiogenesis and suggest PECAM-1 participates in adhesive and/or signaling phenomena required for the motility and organization of endothelial cells (PMID:11940533)
  • prevents phagocyte ingestion of closely apposed viable cells by transmitting ‘detachment’ signals, and which changes function on apoptosis, promoting tethering of dying cells to phagocytes (PMID:12110892)
  • No allelic associations have been found between multiple sclerosis and the CA microsatellite marker in the promoter region of the PECAM1 gene in Belgian study populations. (PMID:12127674)
  • expression in uterine leiomyoma (PMID:12215337)
  • hyperinsulinaemia could accelerate atherosclerosis by directly enhancing neutrophil transendothelial migration through increasing endothelial PECAM-1 expression via mitogen-activated protein kinase activation (PMID:12378388)
  • During transmigration of neutrophils through umbilical vein endothelium, PECAM1 junctions opened to surround the periphery of a transmigrating neutrophil. (PMID:12393634)
  • PECAM-1 involvement through Akt/PKB activation in starvation-induced transendothelial migration of CD34+CD14+ circulating precursors (PMID:12393747)
  • alternatively spliced PECAM-1 isoforms in hematopoietic cells and platelets may have roles in hematopoiesis and transendothelial migration (PMID:12397602)
  • Human PECAM-1 undergoes alternative splicing, generating multiple isoforms in vascular beds of various tissues (PMID:12433657)
  • mechanisms of PECAM-1-dependent neutrophil transmigration (PMID:12468430)
  • Idiopathic membranous nephropathy is characterized by complete or partial loss of PECAM-1 expression from glomerular capillaries and a parallel gain of PECAM-1 expression in the tubular epithelium. (PMID:12552497)
  • Targeted recycling of PECAM1 from endothelial surface-connected compartments during diapedesis (PMID:12610627)
  • Regulated expression of PECAM-1 isoforms during differentiation of blood cells suggests that alternative splicing of its mRNA is involved during hematopoiesis or inflammation. (PMID:12616538)
  • PECAM-1, an adhesion molecule, affects cell proliferation via accumulation of transcriptionally active beta-catenin (PMID:12646189)
  • PECAM-1 markedly suppressed Bax overexpression-induced cytochrome c release, caspase activation, and nuclear fragmentation in human cells transfected with PECAM1. (PMID:12649141)
  • CD31 expression reverts the undifferentiated morphology and aggressive behavior of MDA-MB-231 cells, indicating its active role in the morphogenesis of breast ductal in situ carcinomas (PMID:12651608)
  • Induction of adhesion molecule CD31, a useful nonlysosomal marker of macrophages and their neoplastic counterparts, may contribute to cell migration capability in Langerhans-cell histiocytosis patients. (PMID:12653580)
  • Human Schlemm’s canal cells express the endothelial adherens proteins, VE-cadherin and PECAM-1. (PMID:12658549)
  • role in modulation of integrin-mediated cell adhesion, transendothelial migration, angiogenesis, apoptosis, cell migration, negative regulation of immune cell signalling, autoimmunity, macrophage phagocytosis, IgE-mediated anaphylaxis and thrombosis (PMID:12681475)
  • Review. The complex cytoplasmic domain is the focus: its structure, posttranslational modifications, & binding partners. PECAM1 is a cellular activation inhibitor via PTK-dependent signaling pathways, an integrin activator & a suppressor of apoptosis. (PMID:12689916)
  • platelet endothelial cell adhesion molecule-1 (PECAM-1) gene is responsive to shear stress in vitro and that decreased PECAM-1 gene expression in 53A carriers may influence reduced progression of vessel stenosis in patients with coronary artery disease. (PMID:12732396)
  • PECAM-1 has a role in inhibiting low density lipoprotein-induced signaling in platelets (PMID:12775720)
  • PECAM-1 co-localized with moesin at the cell periphery and in filopodia of glass-activated platelets; moesin may play a role in platelet adhesion, linking PECAM-1 with the actin cytoskeleton (PMID:12850829)
  • role for PECAM-1 as a sensor of oxidative stress, perhaps most importantly during the process of inflammation. (PMID:12893640)
  • PECAM-1 and Fc gamma RIIa are colocalized on the platelet membrane and PECAM-1 down-regulates Fc gamma RIIa-mediated platelet responses. (PMID:12893767)
  • infection with Kaposi’s sarcoma-associated herpesvirus leads to the downregulation of MHC class I, CD31 (PE-CAM), and CD54 (ICAM-I) (PMID:12915579)
  • PECAM-1 participates in maintenance of adherens junction integrity and permeability, organization of the intermediate filament cytoskeleton, regulation of catenin localization and transcriptional activities [Review]. (PMID:14519385)
  • CD31-CD31 bonds act as robust sensors which can guide neutrophil migration, and also modify its velocity. (PMID:14566092)
  • elucidating the mechanisms of PECAM-1 function in autoimmune disorders could facilitate development of novel therapeutics–REVIEW (PMID:14754395)
  • Marked expression of CD31 (P = 0.024), CD105 (P = 0.001), and Tie-2/Tek (P = 0.01) also correlated with higher risk of metastases in node-negative patients. (PMID:14991534)
  • CD31 was mainly reactive with vascular endothelial cells and platelets.Its expression on these high endothelial cells suggest that it participate in trafficking of leukocytes,especially lymphocytes to the omentum. (PMID:15048167)
  • CD31 might play a critical role in the ontogeny and physiology of B-lymphocytes (PMID:15065759)
  • results suggest that a highly charged cluster of amino acids in the PECAM-1 cytoplasmic domain directly interacts with calmodulin and this novel interaction appears to regulate cleavage of PECAM-1 (PMID:15196923)
  • These findings suggest that mechanosensitive PECAM-1 may lie downstream of a primary mechanosensor that activates a tyrosine kinase. (PMID:15249199)
  • In summary, we have identified a novel PECAM-1 transcript (Deltaexon 7) and shown that the 5th (Ig)-like domain of PECAM-1 plays a role in monocyte TEM and Ca(2+) homeostasis. (PMID:15249221)
  • frequency of the Gly670Arg polymorphism was significantly higher in patients with myocardial infart (58.9% vs. 48.3%) (PMID:15265022)
  • PECAM-1 cleavage under high shear stress is closely related to the activation of calpain and the process of platelet-derived microparticles formation mediated by the GPIb-VWF interaction. (PMID:15550032)
  • Up-regulation of endothelial PECAM-1 following radiation exposure is persistent, and PECAM-1 plays a key role in platelet adhesion/aggregation on irradiated endothelial cells. (PMID:15550034)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_reriopecam1aENSDARG00000060263
danio_reriopecam1bENSDARG00000103020
mus_musculusPecam1ENSMUSG00000020717
rattus_norvegicusPecam1ENSRNOG00000066008

Paralogs (17): FCGR2B (ENSG00000072694), FCRLA (ENSG00000132185), FCRL2 (ENSG00000132704), FCGR2A (ENSG00000143226), FCRL5 (ENSG00000143297), FCGR1A (ENSG00000150337), FCRL3 (ENSG00000160856), FCRLB (ENSG00000162746), FCGR3B (ENSG00000162747), FCRL4 (ENSG00000163518), FCRL1 (ENSG00000163534), FCER1A (ENSG00000179639), FCRL6 (ENSG00000181036), C17orf99 (ENSG00000187997), FCGR3A (ENSG00000203747), FCGR2C (ENSG00000244682), MILR1 (ENSG00000271605)

Protein

Protein identifiers

Platelet endothelial cell adhesion moleculeP16284 (reviewed: P16284)

Alternative names: EndoCAM, GPIIA’, PECA1

All UniProt accessions (4): A0A075B727, A0A075B728, A0A075B737, P16284

UniProt curated annotations — full annotation on UniProt →

Function. Cell adhesion molecule which is required for leukocyte transendothelial migration (TEM) under most inflammatory conditions. 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. Trans-homophilic interaction may play a role in endothelial cell-cell adhesion via cell junctions. Heterophilic interaction with CD177 plays a role in transendothelial migration of neutrophils. Homophilic ligation of PECAM1 prevents macrophage-mediated phagocytosis of neighboring viable leukocytes by transmitting a detachment signal. 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. Modulates bradykinin receptor BDKRB2 activation. Regulates bradykinin- and hyperosmotic shock-induced ERK1/2 activation in endothelial cells. Induces susceptibility to atherosclerosis. Does not protect against apoptosis.

Subunit / interactions. Trans-homodimer (via Ig-like C2-type 1 and Ig-like C2-type 2 domains); trans-homodimerization is required for cell-cell interaction. Forms a complex with BDKRB2 and GNAQ. Interacts with BDKRB2 and GNAQ. Interacts with PTPN11; Tyr-713 is critical for PTPN11 recruitment. Interacts with FER. Interacts (via Ig-like C2-type domain 6) with CD177; the interaction is Ca(2+)-dependent; the interaction is direct.

Subcellular location. Cell membrane Cell membrane. Membrane raft. Cell junction Cell junction.

Tissue specificity. Expressed on platelets and leukocytes and is primarily concentrated at the borders between endothelial cells. Expressed in human umbilical vein endothelial cells (HUVECs) (at protein level). Expressed on neutrophils (at protein level). Isoform Long predominates in all tissues examined. Isoform Delta12 is detected only in trachea. Isoform Delta14-15 is only detected in lung. Isoform Delta14 is detected in all tissues examined with the strongest expression in heart. 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).

Post-translational modifications. Phosphorylated on Ser and Tyr residues after cellular activation by src kinases. 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. Constitutively phosphorylated on Ser-734 in resting platelets. Phosphorylated on tyrosine residues by FER and FES in response to FCER1 activation. In endothelial cells Fyn mediates mechanical-force (stretch or pull) induced tyrosine phosphorylation. Palmitoylation by ZDHHC21 is necessary for cell surface expression in endothelial cells and enrichment in membrane rafts.

Domain organisation. The Ig-like C2-type domains 2 and 3 contribute to formation of the complex with BDKRB2 and in regulation of its activity.

Isoforms (6)

UniProt IDNamesCanonical?
P16284-1Longyes
P16284-2Delta12
P16284-3Delta13
P16284-4Delta14
P16284-5Delta14-15
P16284-6Delta15

RefSeq proteins (1): NP_000433* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR003598Ig_sub2Domain
IPR003599Ig_subDomain
IPR007110Ig-like_domDomain
IPR013783Ig-like_foldHomologous_superfamily
IPR036179Ig-like_dom_sfHomologous_superfamily
IPR040878IL-40-like_IgDomain
IPR050488Ig_Fc_receptorFamily

Pfam: PF13895, PF13927, PF17736

UniProt features (86 total): strand 17, mutagenesis site 11, glycosylation site 9, domain 6, disulfide bond 6, splice variant 6, sequence conflict 6, sequence variant 5, modified residue 4, region of interest 3, short sequence motif 2, compositionally biased region 2, topological domain 2, helix 2, signal peptide 1, chain 1, lipid moiety-binding region 1, transmembrane region 1, turn 1

Structure

Experimental structures (PDB)

3 structures.

PDBMethodResolution (Å)
5C14X-RAY DIFFRACTION2.8
5GNIX-RAY DIFFRACTION3.01
2KY5SOLUTION NMR

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-P16284-F180.550.57

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (5): 690, 713, 729, 734, 622

Disulfide bonds (6): 57–109, 152–206, 256–304, 347–386, 431–476, 523–572

Glycosylation sites (9): 52, 84, 151, 301, 320, 344, 356, 453, 551

Mutagenesis-validated functional residues (11):

PositionPhenotype
52probable loss of n-glycosylation. no effect on homophilic cell adhesion; when associated with q-84 and q-151.
74reduced homophilic cell adhesion; when associated with e-112; e-188 and e-190.
84probable loss of n-glycosylation. no effect on homophilic cell adhesion; when associated with q-52 and q-151.
89lacks homophilic binding ability and is distributed over the entire plasma membrane.
112reduced homophilic cell adhesion; when associated with e-74; e-188 and e-190.
151probable loss of n-glycosylation. no effect on homophilic cell adhesion; when associated with q-52 and q-84.
188reduced homophilic cell adhesion; when associated with e-74; e-112 and e-190.
190reduced homophilic cell adhesion; when associated with e-74; e-112 and e-188.
6226-fold decrease in association with membrane microdomains.
690no effect on tyr-713 phosphorylation. inhibits targeted recycling of pecam1 from the lateral border recycling compartmen
713loss of tyr-690 phosphorylation. does not inhibit targeted recycling of pecam1 from the lateral border recycling compart

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

IDPathway
R-HSA-114608Platelet degranulation
R-HSA-202733Cell surface interactions at the vascular wall
R-HSA-210990PECAM1 interactions
R-HSA-216083Integrin cell surface interactions
R-HSA-432142Platelet sensitization by LDL
R-HSA-6798695Neutrophil degranulation
R-HSA-9856530High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells

MSigDB gene sets: 463 (showing top): GOBP_ENDOTHELIAL_CELL_DEVELOPMENT, MODULE_52, GOBP_EPITHELIUM_DEVELOPMENT, HORIUCHI_WTAP_TARGETS_DN, ZHAN_LATE_DIFFERENTIATION_GENES_UP, WALLACE_PROSTATE_CANCER_RACE_UP, REACTOME_INNATE_IMMUNE_SYSTEM, MCLACHLAN_DENTAL_CARIES_UP, GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_EPITHELIAL_CELL_DEVELOPMENT, GOCC_SECRETORY_GRANULE, GOBP_CELLULAR_RESPONSE_TO_EXTERNAL_STIMULUS, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, MODULE_45

GO Biological Process (35): angiogenesis (GO:0001525), endothelial cell morphogenesis (GO:0001886), phagocytosis (GO:0006909), immune response (GO:0006955), homophilic cell-cell adhesion (GO:0007156), leukocyte cell-cell adhesion (GO:0007159), signal transduction (GO:0007165), cell surface receptor signaling pathway (GO:0007166), Rho protein signal transduction (GO:0007266), cell recognition (GO:0008037), positive regulation of cell migration (GO:0030335), maintenance of blood-brain barrier (GO:0035633), monocyte extravasation (GO:0035696), wound healing (GO:0042060), vasodilation (GO:0042311), positive regulation of MAPK cascade (GO:0043410), endothelial cell migration (GO:0043542), diapedesis (GO:0050904), detection of mechanical stimulus (GO:0050982), positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051897), establishment of endothelial barrier (GO:0061028), bicellular tight junction assembly (GO:0070830), cellular response to mechanical stimulus (GO:0071260), glomerular endothelium development (GO:0072011), neutrophil extravasation (GO:0072672), endothelial cell-matrix adhesion (GO:0090673), cell-cell adhesion (GO:0098609), obsolete cell-cell adhesion via plasma-membrane adhesion molecules (GO:0098742), positive regulation of protein localization to cell-cell junction (GO:0150107), positive regulation of intracellular signal transduction (GO:1902533), blood vessel development (GO:0001568), endothelial cell development (GO:0001885), cell adhesion (GO:0007155), cell migration (GO:0016477), regulation of cell migration (GO:0030334)

GO Molecular Function (3): transmembrane signaling receptor activity (GO:0004888), protein homodimerization activity (GO:0042803), protein binding (GO:0005515)

GO Cellular Component (18): obsolete extracellular space (GO:0005615), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytosol (GO:0005829), plasma membrane (GO:0005886), cell-cell junction (GO:0005911), external side of plasma membrane (GO:0009897), smooth muscle contractile fiber (GO:0030485), secretory granule membrane (GO:0030667), platelet alpha granule membrane (GO:0031092), protein-containing complex (GO:0032991), cell-cell contact zone (GO:0044291), membrane raft (GO:0045121), extracellular exosome (GO:0070062), cytoplasm (GO:0005737), membrane (GO:0016020), anchoring junction (GO:0070161), cell periphery (GO:0071944)

Reactome top-level categories

Rollup of top-7 pathways:

CategoryPathways
Response to elevated platelet cytosolic Ca2+1
Hemostasis1
Cell surface interactions at the vascular wall1
Extracellular matrix organization1
Platelet homeostasis1
Innate Immune System1
Response of endothelial cells to shear stress1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure5
cell-cell adhesion2
cellular process2
cell migration2
cellular extravasation2
positive regulation of intracellular signal transduction2
nuclear lumen2
blood vessel morphogenesis1
anatomical structure formation involved in morphogenesis1
endothelial cell development1
epithelial cell morphogenesis1
endocytosis1
immune system process1
response to stimulus1
cell communication1
signaling1
regulation of cellular process1
cellular response to stimulus1
signal transduction1
small GTPase-mediated signal transduction1
regulation of cell migration1
positive regulation of cell motility1
tissue homeostasis1
mononuclear cell migration1
myeloid leukocyte migration1
response to wounding1
tissue regeneration1
blood vessel diameter maintenance1
MAPK cascade1
regulation of MAPK cascade1
leukocyte migration1
detection of external stimulus1
detection of abiotic stimulus1
response to mechanical stimulus1
phosphatidylinositol 3-kinase/protein kinase B signal transduction1
regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction1
signaling receptor activity1
identical protein binding1
protein dimerization activity1
binding1

Protein interactions and networks

STRING

5682 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
PECAM1KDRP35968999
PECAM1CDH5P33151999
PECAM1CDH17Q12864995
PECAM1CD38P28907992
PECAM1CD177Q8N6Q3986
PECAM1PTPN11Q06124973
PECAM1CTNNB1P35222964
PECAM1SELEP16111954
PECAM1CD44P16070946
PECAM1FLT4P35916938
PECAM1F11RQ9Y624917
PECAM1CD34P28906908
PECAM1PTPRCP08575889
PECAM1VWFP04275885
PECAM1ENGP17813884

IntAct

281 interactions, top by confidence:

ABTypeScore
PECAM1LGALS1psi-mi:“MI:0915”(physical association)0.680
LGALS1PECAM1psi-mi:“MI:0915”(physical association)0.680
JUPPECAM1psi-mi:“MI:0915”(physical association)0.610
PECAM1JUPpsi-mi:“MI:0914”(association)0.610
PECAM1JUPpsi-mi:“MI:0915”(physical association)0.610
SRCPECAM1psi-mi:“MI:0407”(direct interaction)0.590
AK2PECAM1psi-mi:“MI:0915”(physical association)0.560
BOKPECAM1psi-mi:“MI:0915”(physical association)0.560
MRPL49PECAM1psi-mi:“MI:0915”(physical association)0.560
CAMK2APECAM1psi-mi:“MI:0915”(physical association)0.560
AP1S1PECAM1psi-mi:“MI:0915”(physical association)0.560
DNASE1L1PECAM1psi-mi:“MI:0915”(physical association)0.560
DXOPECAM1psi-mi:“MI:0915”(physical association)0.560
EYA3PECAM1psi-mi:“MI:0915”(physical association)0.560
FANCGPECAM1psi-mi:“MI:0915”(physical association)0.560
GFAPPECAM1psi-mi:“MI:0915”(physical association)0.560
IDH1PECAM1psi-mi:“MI:0915”(physical association)0.560
STT3APECAM1psi-mi:“MI:0915”(physical association)0.560
LASP1PECAM1psi-mi:“MI:0915”(physical association)0.560
NEFLPECAM1psi-mi:“MI:0915”(physical association)0.560
CNOT3PECAM1psi-mi:“MI:0915”(physical association)0.560
PECAM1psi-mi:“MI:0915”(physical association)0.560
RPL37APECAM1psi-mi:“MI:0915”(physical association)0.560
SKILPECAM1psi-mi:“MI:0915”(physical association)0.560

BioGRID (45): CTNNB1 (Co-localization), SRC (Affinity Capture-Western), PPP2R1A (Affinity Capture-Western), LGALS1 (Affinity Capture-MS), PECAM1 (Reconstituted Complex), PTPN11 (Reconstituted Complex), PTPN11 (Affinity Capture-Western), PIK3CG (Affinity Capture-Western), XRCC6 (Two-hybrid), PECAM1 (Affinity Capture-Western), PECAM1 (Affinity Capture-Western), PECAM1 (Affinity Capture-Western), PECAM1 (Affinity Capture-Western), PECAM1 (Affinity Capture-Western), CTNNB1 (Affinity Capture-Western)

ESM2 similar proteins: B7Z8K6, O02757, O35112, O46634, O46651, O70535, O95727, P01730, P01848, P01849, P01853, P01882, P03985, P03986, P06334, P06335, P06729, P0CF51, P0DSE1, P0DTU3, P10300, P16003, P16004, P16284, P20489, P23088, P23735, P31042, P31043, P42069, P42071, P42081, P42082, P42292, P42702, P46630, P51866, P79184, P79185, P97710

Diamond homologs: P16284, P51866, Q08481, Q3SWT0, Q95242

SIGNOR signaling

8 interactions.

AEffectBMechanism
NUP98-HOXA9“down-regulates quantity by repression”PECAM1“transcriptional regulation”
FER“up-regulates activity”PECAM1phosphorylation
FES“up-regulates activity”PECAM1phosphorylation
PECAM1“up-regulates activity”CD38binding
CSK“up-regulates activity”PECAM1phosphorylation
LCK“up-regulates activity”PECAM1phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

3 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance0
Likely benign0
Benign3

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

4902 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
17:64356323:C:GC523S0.997
17:64356324:A:TC523S0.997
17:64369950:C:GC256S0.997
17:64369951:A:GC256R0.997
17:64369951:A:TC256S0.997
17:64375287:C:GC152S0.997
17:64375288:A:TC152S0.997
17:64377883:C:GC109S0.997
17:64377884:A:TC109S0.997
17:64377890:A:CY107D0.997
17:64356324:A:GC523R0.996
17:64363208:C:GC386S0.996
17:64363209:A:TC386S0.996
17:64369806:C:GC304S0.996
17:64369807:A:TC304S0.996
17:64375125:C:GC206S0.996
17:64375126:A:TC206S0.996
17:64377884:A:GC109R0.996
17:64356176:C:GC572S0.995
17:64356177:A:TC572S0.995
17:64369807:A:GC304R0.995
17:64375126:A:GC206R0.995
17:64375288:A:GC152R0.995
17:64378039:C:GC57S0.995
17:64378040:A:TC57S0.995
17:64360340:C:GC431S0.994
17:64360341:A:TC431S0.994
17:64363209:A:GC386R0.994
17:64363325:C:GC347S0.994
17:64363326:A:TC347S0.994

dbSNP variants (sampled 300 via entrez): RS1000014480 (17:64374139 G>T), RS1000054284 (17:64363635 G>T), RS1000072926 (17:64357273 C>A,T), RS1000165663 (17:64340036 A>C), RS1000236503 (17:64384689 C>A,T), RS1000305438 (17:64340323 A>G), RS1000322072 (17:64363344 C>T), RS1000376255 (17:64328464 T>C), RS1000440894 (17:64378961 C>T), RS1000450556 (17:64334615 T>C), RS1000503089 (17:64338788 A>T), RS1000570018 (17:64383446 G>A,T), RS1000662921 (17:64376891 G>A,T), RS1000732123 (17:64378681 G>T), RS1000741256 (17:64333085 G>A)

Disease associations

OMIM: gene MIM:173445 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

11 associations (top):

StudyTraitp-value
GCST005195_119Coronary artery disease6.000000e-11
GCST005196_223Coronary artery disease8.000000e-11
GCST007096_2Pulse pressure8.000000e-07
GCST007099_147Systolic blood pressure3.000000e-09
GCST007269_128Pulse pressure3.000000e-08
GCST010479_44Coronary artery disease1.000000e-08
GCST010866_156Coronary artery disease1.000000e-14
GCST010867_17Coronary artery disease3.000000e-09
GCST011365_111Myocardial infarction2.000000e-07
GCST012297_4Schizophrenia, bipolar disorder or major depressive disorder1.000000e-06
GCST90000025_611Appendicular lean mass2.000000e-12

EFO canonical traits (3, from GWAS)

EFO IDTrait name
EFO:0005763pulse pressure measurement
EFO:0006335systolic blood pressure
EFO:0004980appendicular lean mass

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

86 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Arsenic Trioxideincreases expression, decreases reaction, increases reaction, affects cotreatment, decreases expression4
(+)-JQ1 compounddecreases expression3
titanium dioxidedecreases reaction, increases expression2
Resveratrolaffects cotreatment, increases expression, decreases expression2
Air Pollutantsincreases expression, affects expression, increases abundance2
Arsenicaffects expression, affects methylation2
Aspirindecreases expression2
Curcumindecreases reaction, increases expression, affects expression2
Plant Extractsaffects cotreatment, increases expression, increases phosphorylation2
Tobacco Smoke Pollutionaffects expression, increases expression2
Tretinoinaffects cotreatment, increases expression2
Particulate Matterincreases abundance, increases expression, decreases reaction2
caulerpindecreases expression1
(6,7-dimethoxyquinolin-4-yl)(5-methoxy-2,2-dimethyl-2H-chromen-6-yl)methyl acetatedecreases expression1
napabucasindecreases expression1
EGPI-1 compounddecreases expression1
lasiocarpinedecreases expression1
triphenyl phosphateaffects expression1
bisphenol Aincreases expression1
arseniteaffects binding, decreases reaction1
sodium arseniteaffects expression1
cobaltous chloridedecreases expression1
methaneselenolincreases expression1
nonylphenolaffects reaction, increases expression, decreases reaction1
ochratoxin Aincreases expression1
andrographolidedecreases expression1
lysophosphatidic aciddecreases reaction, increases expression, affects reaction1
S-(1,2-dichlorovinyl)cysteineaffects cotreatment, decreases expression1
destruxin Bdecreases expression1
3-methylquercetindecreases expression1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_B8MEAbcam HCT 116 PECAM1 KOCancer cell lineMale
CVCL_B9PKAbcam A-549 PECAM1 KOCancer cell lineMale
CVCL_D2GWAbcam MCF-7 PECAM1 KOCancer cell lineFemale

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.