{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"P05106","secondaryAccessions":["A0PJW2","D3DXJ8","O15495","Q12806","Q13413","Q14648","Q16499"],"uniProtkbId":"ITB3_HUMAN","entryAudit":{"firstPublicDate":"1987-08-13","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2007-02-06","entryVersion":297,"sequenceVersion":2},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Integrin beta-3"}},"alternativeNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Platelet membrane glycoprotein IIIa"},"shortNames":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"GPIIIa"}]}],"cdAntigenNames":[{"value":"CD61"}],"flag":"Precursor"},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:6156"}],"value":"ITGB3"},"synonyms":[{"value":"GP3A"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"O54890"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10640428"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12477717"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12807887"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18441324"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18635536"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19578119"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20682778"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23125415"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24789099"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25398877"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28302677"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28873464"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29030430"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31331973"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"39713860"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9111081"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9195946"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"16322781"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"17635696"}],"value":"Integrin alpha-V/beta-3 (ITGAV:ITGB3) is a receptor for cytotactin, fibronectin, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin, vitronectin and von Willebrand factor (VWF). Integrin alpha-IIb/beta-3 (ITGA2B:ITGB3) is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. Integrins alpha-IIb/beta-3 and alpha-V/beta-3 recognize the sequence R-G-D in a wide array of ligands. Integrin alpha-IIb/beta-3 recognizes the sequence H-H-L-G-G-G-A-K-Q-A-G-D-V in fibrinogen gamma chain (By similarity). Following activation integrin alpha-IIb/beta-3 brings about platelet/platelet interaction through binding of soluble fibrinogen (PubMed:9111081). This step leads to rapid platelet aggregation which physically plugs ruptured endothelial surface. Fibrinogen binding enhances SELP expression in activated platelets (By similarity). ITGAV:ITGB3 binds to fractalkine (CX3CL1) and acts as its coreceptor in CX3CR1-dependent fractalkine signaling (PubMed:23125415, PubMed:24789099). ITGAV:ITGB3 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling (PubMed:20682778). ITGAV:ITGB3 binds to FGF1 and this binding is essential for FGF1 signaling (PubMed:18441324). ITGAV:ITGB3 binds to FGF2 and this binding is essential for FGF2 signaling (PubMed:28302677). ITGAV:ITGB3 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:19578119). ITGAV:ITGB3 binds to IGF2 and this binding is essential for IGF2 signaling (PubMed:28873464). ITGAV:ITGB3 binds to IL1B and this binding is essential for IL1B signaling (PubMed:29030430). ITGAV:ITGB3 binds to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1 (PubMed:18635536, PubMed:25398877). ITGAV:ITGB3 acts as a receptor for fibrillin-1 (FBN1) and mediates R-G-D-dependent cell adhesion to FBN1 (PubMed:12807887). In brain, plays a role in synaptic transmission and plasticity. Involved in the regulation of the serotonin neurotransmission, is required to localize to specific compartments within the synapse the serotonin receptor SLC6A4 and for an appropriate reuptake of serotonin. Controls excitatory synaptic strength by regulating GRIA2-containing AMPAR endocytosis, which affects AMPAR abundance and composition (By similarity). ITGAV:ITGB3 act as a receptor for CD40LG (PubMed:31331973). ITGAV:ITGB3 acts as a receptor for IBSP and promotes cell adhesion and migration to IBSP (PubMed:10640428). Integrin ITGA2B:ITGB3 is also the receptor of the erythrocyte-specific ICAM4 ligand involved in heterotypic cell-cell adhesion between erythrocytes and activated platelets (PubMed:12477717). ITGAV:ITGB3 acts as a receptor for SNED1 and mediates R-G-D-dependent cell adhesion to SNED1 (PubMed:39713860)"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18045938"}],"value":"(Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for Herpes virus 8/HHV-8"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7519807"}],"value":"(Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for Coxsackievirus A9"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9618541"}],"value":"(Microbial infection) Acts as a receptor for Hantaan virus"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15834425"}],"value":"(Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for Cytomegalovirus/HHV-5"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24478423"}],"value":"(Microbial infection) Integrin ITGA5:ITGB3 acts as a receptor for Human metapneumovirus"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11160695"}],"value":"(Microbial infection) Integrin ITGAV:ITGB3 acts aP05556s a receptor for Human parechovirus 1"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23658209"}],"value":"(Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for West nile virus"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10397733"}],"value":"(Microbial infection) In case of HIV-1 infection, the interaction with extracellular viral Tat protein seems to enhance angiogenesis in Kaposi's sarcoma lesions"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"O54890"},{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q8R2H2"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11807098"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11940607"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12695522"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12807887"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15156152"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15466936"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16051604"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16216233"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17583734"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18441324"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19141530"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19578119"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20682778"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20702409"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22492581"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23125415"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27993971"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28302677"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28873464"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29030430"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29301984"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"35687021"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"37184585"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38016540"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"39197621"}],"value":"Heterodimer of an alpha and a beta subunit. Beta-3 (ITGB3) associates with either alpha-IIb (ITGA2B) or alpha-V (ITGAV). Isoform Beta-3C interacts with FLNB. Interacts with COMP. Interacts with PDIA6 following platelet stimulation. Interacts with SYK; upon activation by ITGB3 promotes platelet adhesion. Interacts with MYO10. Interacts with DAB2. Interacts with FERMT2. Interacts with EMP2; regulates the levels of the heterodimer ITGA5:ITGB3 integrin expression on the plasma membrane (PubMed:16216233). Integrin ITGAV:ITGB3 interacts with FBLN5 (via N-terminus) (By similarity). ITGAV:ITGB3 interacts with CCN3 (PubMed:12695522). ITGAV:ITGB3 and ITGA2B:ITGB3 interact with SELP (via C-type lectin domain); the interaction mediates cell-cell interaction and adhesion (PubMed:37184585). ITGAV:ITGB3 is found in a ternary complex with CX3CR1 and CX3CL1 (PubMed:23125415). ITGAV:ITGB3 is found in a ternary complex with NRG1 and ERBB3 (PubMed:20682778). ITGAV:ITGB3 is found in a ternary complex with FGF1 and FGFR1 (PubMed:18441324). ITGAV:ITGB3 interacts with FGF2; it is likely that FGF2 can simultaneously bind ITGAV:ITGB3 and FGF receptors (PubMed:28302677). ITGAV:ITGB3 binds to IL1B (PubMed:29030430). ITGAV:ITGB3 is found in a ternary complex with IGF1 and IGF1R (PubMed:19578119). ITGAV:ITGB3 interacts with IGF2 (PubMed:28873464). ITGAV:ITGB3 interacts with FBN1 (PubMed:12807887). ITGAV:ITGB3 interacts with CD9, CD81 and CD151 (via second extracellular domain) (PubMed:27993971). Interacts (via the allosteric site (site 2)) with CXCL12 in a CXCR4-independent manner (PubMed:29301984). Interacts with MXRA8/DICAM; the interaction inhibits ITGAV:ITGB3 heterodimer formation (PubMed:22492581). ITGAV:ITGB3 interacts with PTN (PubMed:19141530). Forms a complex with PTPRZ1 and PTN that stimulates endothelial cell migration through ITGB3 Tyr-773 phosphorylation (PubMed:19141530). ITGAV:ITGB3 interacts with SLC6A4. Interacts with SLC6A4 (via C-terminus); this interaction regulates SLC6A4 trafficking (By similarity). ITGA2B:ITGB3 interacts with PPIA/CYPA; the interaction is ROS and PPIase activity-dependent and is increased in the presence of thrombin (By similarity). Interacts with tensin TNS3; TNS3 also interacts with PEAK1, thus acting as an adapter molecule to bridge the association of PEAK1 with ITGB3 (PubMed:35687021). Interacts with TM4SF19 (PubMed:38016540). ITGAV:ITGB3 interacts with Bothrops moojeni disintegrin Moojecin; the interaction may inhibit ADP-induced platelet aggregation in human plasma (PubMed:39197621)"}],"commentType":"SUBUNIT"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18045938"}],"value":"(Microbial infection) Integrin ITGAV:ITGB3 interacts with herpes virus 8/HHV-8 glycoprotein B"}],"commentType":"SUBUNIT"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7519807"}],"value":"(Microbial infection) Integrin ITGAV:ITGB3 interacts with coxsackievirus A9 capsid proteins"}],"commentType":"SUBUNIT"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9618541"}],"value":"(Microbial infection) Interacts with Hantaan virus glycoprotein G"}],"commentType":"SUBUNIT"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15834425"}],"value":"(Microbial infection) Integrin ITGAV:ITGB3 interacts with cytomegalovirus/HHV-5 gH:gL proteins"}],"commentType":"SUBUNIT"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24478423"}],"value":"(Microbial infection) Integrin ITGA5:ITGB3 interacts with human metapneumovirus fusion protein"}],"commentType":"SUBUNIT"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11160695"}],"value":"(Microbial infection) Integrin ITGAV:ITGB3 interacts with human parechovirus 1 capsid proteins"}],"commentType":"SUBUNIT"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23658209"}],"value":"(Microbial infection) Integrin ITGAV:ITGB3 interacts with west nile virus envelope protein E"}],"commentType":"SUBUNIT"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10397733"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16982628"}],"value":"(Microbial infection) Interacts with HIV-1 Tat (PubMed:10397733). ITGAV:ITGB3 interacts with AGRA2 (PubMed:16982628)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"P05106","intActId":"EBI-702847"},"interactantTwo":{"uniProtKBAccession":"P78423","geneName":"CX3CL1","intActId":"EBI-15188013"},"numberOfExperiments":6,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P05106","intActId":"EBI-702847"},"interactantTwo":{"uniProtKBAccession":"P21333","geneName":"FLNA","intActId":"EBI-350432"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P05106","intActId":"EBI-702847"},"interactantTwo":{"uniProtKBAccession":"P08514","geneName":"ITGA2B","intActId":"EBI-702693"},"numberOfExperiments":12,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P05106","intActId":"EBI-702847"},"interactantTwo":{"uniProtKBAccession":"P08514-1","geneName":"ITGA2B","intActId":"EBI-15805658"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P05106","intActId":"EBI-702847"},"interactantTwo":{"uniProtKBAccession":"P06756","geneName":"ITGAV","intActId":"EBI-298282"},"numberOfExperiments":13,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P05106","intActId":"EBI-702847"},"interactantTwo":{"uniProtKBAccession":"P05106","geneName":"ITGB3","intActId":"EBI-702847"},"numberOfExperiments":5,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P05106","intActId":"EBI-702847"},"interactantTwo":{"uniProtKBAccession":"P18031","geneName":"PTPN1","intActId":"EBI-968788"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P05106","intActId":"EBI-702847"},"interactantTwo":{"uniProtKBAccession":"Q9Y490","geneName":"TLN1","intActId":"EBI-2462036"},"numberOfExperiments":5,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P05106","intActId":"EBI-702847"},"interactantTwo":{"uniProtKBAccession":"P05094","geneName":"ACTN1","intActId":"EBI-5847257"},"numberOfExperiments":2,"organismDiffer":true},{"interactantOne":{"uniProtKBAccession":"P05106","intActId":"EBI-702847"},"interactantTwo":{"uniProtKBAccession":"F5HB81","geneName":"gB","intActId":"EBI-9027696"},"numberOfExperiments":2,"organismDiffer":true},{"interactantOne":{"uniProtKBAccession":"P05106","intActId":"EBI-702847"},"interactantTwo":{"uniProtKBAccession":"Q62101","geneName":"Prkd1","intActId":"EBI-6903636"},"numberOfExperiments":2,"organismDiffer":true},{"interactantOne":{"uniProtKBAccession":"P05106","intActId":"EBI-702847"},"interactantTwo":{"uniProtKBAccession":"P05480-2","geneName":"Src","intActId":"EBI-26656723"},"numberOfExperiments":4,"organismDiffer":true},{"interactantOne":{"uniProtKBAccession":"P05106","intActId":"EBI-702847"},"interactantTwo":{"uniProtKBAccession":"P26039","geneName":"Tln1","intActId":"EBI-1039593"},"numberOfExperiments":7,"organismDiffer":true},{"interactantOne":{"uniProtKBAccession":"P05106","intActId":"EBI-702847"},"interactantTwo":{"uniProtKBAccession":"P54939","geneName":"TLN1","intActId":"EBI-1035421"},"numberOfExperiments":2,"organismDiffer":true},{"interactantOne":{"uniProtKBAccession":"P05106","intActId":"EBI-702847"},"interactantTwo":{"uniProtKBAccession":"P06935","intActId":"EBI-981051"},"numberOfExperiments":4,"organismDiffer":true}]},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20020534"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20702409"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9195946"}],"value":"Cell membrane","id":"SL-0039"},"topology":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20020534"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20702409"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9195946"}],"value":"Single-pass type I membrane protein","id":"SL-9905"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20702409"}],"value":"Cell projection, lamellipodium membrane","id":"SL-0292"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20702409"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"35687021"}],"value":"Cell junction, focal adhesion","id":"SL-0118"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"O54890"}],"value":"Postsynaptic cell membrane","id":"SL-0219"},"topology":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"O54890"}],"value":"Single-pass type I membrane protein","id":"SL-9905"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"O54890"}],"value":"Synapse","id":"SL-0258"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"Beta-3A"},"isoformIds":["P05106-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"Beta-3B"},"isoformIds":["P05106-2"],"sequenceIds":["VSP_002745"],"isoformSequenceStatus":"Described"},{"name":{"value":"Beta-3C"},"isoformIds":["P05106-3"],"sequenceIds":["VSP_002746"],"isoformSequenceStatus":"Described"}]},{"texts":[{"value":"Isoform beta-3A and isoform beta-3C are widely expressed. Isoform beta-3A is specifically expressed in osteoblast cells; isoform beta-3C is specifically expressed in prostate and testis"}],"commentType":"TISSUE SPECIFICITY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15378069"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19111664"}],"value":"The VWFA domain (or beta I domain) contains three cation-binding sites: the ligand-associated metal ion-binding site (LIMBS or SyMBS), the metal ion-dependent adhesion site (MIDAS), and the adjacent MIDAS site (ADMIDAS). This domain is also part of the ligand-binding site"}],"commentType":"DOMAIN"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10896934"}],"value":"Phosphorylated on tyrosine residues in response to thrombin-induced platelet aggregation. Probably involved in outside-in signaling. A peptide (AA 740-762) is capable of binding GRB2 only when both Tyr-773 and Tyr-785 are phosphorylated. Phosphorylation of Thr-779 inhibits SHC binding"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12036875"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"1430225"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19821948"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22116617"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25494608"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"2565345"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28518345"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31859394"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"3798869"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7694683"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8093349"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8132570"}],"value":"Genetic variants in ITGB3 define different platelet-specific alloantigen systems that are involved in fetomaternal alloimmune thromobocytopenia. Alloantigen system Pl(A), also known as Zw or HPA-1, is characterized by variant p.Pro59Leu (alloantigen Pl(A1) or HPA-1A) and by variant p.Leu59Pro (alloantigen Pl(A2) or HPA-1B) (PubMed:2565345). Alloantigen system Pen, also known as Yuk or HPA-4, is characterized by variant p.Gln169Arg (alloantigen Pen(A)) and variant p.Arg169Gln (alloantigen Pen(B)) (PubMed:3798869, PubMed:1430225). Alloantigen system Mo is characterized by variant p.Pro433Ala (alloantigen Mo(+)) and variant p.Ala433Pro (alloantigen Mo(-)) (PubMed:8093349). Alloantigen system CA/TU is characterized by variant p.Gln515Arg (alloantigen CA(-)/TU(-)) and variant p.Arg515Gln (alloantigen CA(+)/TU(+)) (PubMed:7694683). Alloantigen system Sra is characterized by variant p.Cys662Arg (alloantigen Sra(-)) and variant p.Arg662Cys (alloantigen Sra(+)) (PubMed:8132570). Alloantigen system Sec(a) is characterized by variant p.Lys606Asn (alloantigen Sec(a+)) and variant p.Asn606Lys (alloantigen Sec(a-)) (PubMed:22116617). Additional platelet-specific alloantigens involved in fetomaternal alloimmune thromobocytopenia are known (PubMed:12036875, PubMed:19821948, PubMed:25494608, PubMed:28518345, PubMed:31859394)"}],"commentType":"POLYMORPHISM"},{"commentType":"DISEASE","disease":{"diseaseId":"Fetomaternal alloimmune thrombocytopenia 1","diseaseAccession":"DI-07077","acronym":"FMAIT1","description":"A form of fetomaternal alloimmune thrombocytopenia, a bleeding disorder caused by maternal/fetal incompatibility for platelet alloantigens and arising when a fetus inherits a paternal platelet alloantigen that the mother does not possess. During pregnancy, as well as parturition, maternal alloantibodies against paternally-inherited platelet antigens cause destruction of fetal platelets and fetal/neonatal thrombocytopenia. Disease severity and clinical features in the fetus or neonate are heterogeneous. While most fetuses remain asymptomatic, others develop skin bleedings (petechiae) or internal organ bleedings. The most severe symptom is intracranial hemorrhage that is mostly discovered postnatally and can result in neurological complications or even death. Mothers with circulating platelet alloantibodies may experience miscarriage. FMAIT1 transmission pattern is consistent with autosomal dominant paternal inheritance.","diseaseCrossReference":{"database":"MIM","id":"621264"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12036875"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"1430225"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19821948"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22116617"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25494608"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"2565345"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28518345"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31859394"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33724573"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"3798869"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7694683"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8093349"}]},"note":{"texts":[{"value":"Disease susceptibility is associated with variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Glanzmann thrombasthenia 2","diseaseAccession":"DI-06076","acronym":"GT2","description":"A form of Glanzmann thrombasthenia, a disorder characterized by failure of platelet aggregation, absent or diminished clot retraction, and mucocutaneous bleeding of mild-to-moderate severity. 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