Gene table of GP1BA : glycoprotein Ib platelet alpha subunit

Gene-disease associations table

Disease IDDisease nameSource of annotation with GP1BAOMIM linkNumber of associated genesgenes
258660NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TOClinVar, OMIM link to OMIM 1GP1BA
153670BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANTClinVar, OMIM, HUMSAVAR link to OMIM 1GP1BA
PS231200BLEEDING DISORDER, PLATELET-TYPEClinVar, OMIM, HUMSAVAR link to OMIM 21NBEAL2, ANO6, GP1BA, ITGA2, GFI1B, ITGA2B, PLAU, PRKACG, P2RY12, ACTN1, TBXAS1, P2RX1, GP6, CD36, SLFN14, ITGB3, GP9, GP1BB, RASGRP2, TBXA2R, MYH9

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Annotation of the gene GP1BA

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Platelet activationhsa046115.66
ECM-receptor interactionhsa045126.09
Hematopoietic cell lineagehsa046406.18
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Platelet Aggregation (Plug Formation)R-HSA-760097.77
Platelet activation, signaling and aggregationR-HSA-760025.15
GP1b-IX-V activation signallingR-HSA-4301169.66
Intrinsic Pathway of Fibrin Clot FormationR-HSA-1408378.52
Platelet Adhesion to exposed collagenR-HSA-758929.08
Formation of Fibrin Clot (Clotting Cascade)R-HSA-1408777.7
HemostasisR-HSA-1095823.98
Associated GO terms for Molecular function
GO termGO IDGO IC
kinase inhibitor activityGO:00192105.25
G-protein coupled receptor activityGO:00049302.95
signaling receptor activityGO:00380232.49
kinase regulator activityGO:00192074.5
protein bindingGO:00055150.46
protein kinase regulator activityGO:00198874.6
thrombin receptor activityGO:00150578.13
enzyme regulator activityGO:00302342.85
protein kinase inhibitor activityGO:00048605.28
molecular transducer activityGO:00600892.32
transmembrane signaling receptor activityGO:00048882.57
peptide receptor activityGO:00016534.84
G-protein coupled peptide receptor activityGO:00085284.86
bindingGO:00054880.18
signal transducer activityGO:00048712.28
enzyme inhibitor activityGO:00048573.78
molecular function regulatorGO:00987722.51
transmembrane receptor activityGO:00996002.53
receptor activityGO:00048722.32