Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2812
Gene name	Glycoprotein Ib platelet subunit beta
Gene symbol	GP1BB
Synonyms (NCBI Gene)	BDPLT1BSCD42CGPIBBGPIbbeta
Chromosome	22
Chromosome location	22q11.21
Summary	Platelet glycoprotein Ib (GPIb) is a heterodimeric transmembrane protein consisting of a disulfide-linked 140 kD alpha chain and 22 kD beta chain. It is part of the GPIb-V-IX system that constitutes the receptor for von Willebrand factor (VWF), and mediat

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miRTarBase ID	miRNA	Experiments	Reference
MIRT029354	hsa-miR-26b-5p	Microarray	19088304
MIRT1027936	hsa-miR-1254	CLIP-seq
MIRT1027937	hsa-miR-150	CLIP-seq
MIRT1027938	hsa-miR-3116	CLIP-seq
MIRT1027939	hsa-miR-3189-5p	CLIP-seq
MIRT1027940	hsa-miR-4758-3p	CLIP-seq
MIRT1027937	hsa-miR-150	CLIP-seq
MIRT1027939	hsa-miR-3189-5p	CLIP-seq
MIRT1027940	hsa-miR-4758-3p	CLIP-seq
MIRT2004918	hsa-miR-1207-5p	CLIP-seq
MIRT1027937	hsa-miR-150	CLIP-seq
MIRT2004919	hsa-miR-296-5p	CLIP-seq
MIRT1027939	hsa-miR-3189-5p	CLIP-seq
MIRT2004920	hsa-miR-4433	CLIP-seq
MIRT2004921	hsa-miR-4469	CLIP-seq
MIRT2004922	hsa-miR-4634	CLIP-seq
MIRT2004923	hsa-miR-4655-3p	CLIP-seq
MIRT2004924	hsa-miR-4722-5p	CLIP-seq
MIRT2004925	hsa-miR-4749-3p	CLIP-seq
MIRT1027940	hsa-miR-4758-3p	CLIP-seq
MIRT2004926	hsa-miR-4763-3p	CLIP-seq
MIRT2004927	hsa-miR-541	CLIP-seq
MIRT2004928	hsa-miR-654-5p	CLIP-seq
MIRT1027937	hsa-miR-150	CLIP-seq
MIRT1027939	hsa-miR-3189-5p	CLIP-seq
MIRT2004920	hsa-miR-4433	CLIP-seq
MIRT2004921	hsa-miR-4469	CLIP-seq
MIRT2004923	hsa-miR-4655-3p	CLIP-seq
MIRT2004924	hsa-miR-4722-5p	CLIP-seq
MIRT1027940	hsa-miR-4758-3p	CLIP-seq
MIRT2004927	hsa-miR-541	CLIP-seq
MIRT2004928	hsa-miR-654-5p	CLIP-seq
MIRT1027937	hsa-miR-150	CLIP-seq
MIRT1027939	hsa-miR-3189-5p	CLIP-seq
MIRT1027940	hsa-miR-4758-3p	CLIP-seq

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Transcription factor	Regulation	Reference
GATA1	Activation	8703016
GATA1	Unknown	11418466

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GO ID	Ontology	Definition	Evidence	Reference
GO:0004888	Function	Transmembrane signaling receptor activity	NAS	3353370
GO:0005515	Function	Protein binding	IPI	4044584, 11943773, 18674540, 18789323
GO:0005886	Component	Plasma membrane	NAS	3353370
GO:0005886	Component	Plasma membrane	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	NAS	3353370
GO:0007596	Process	Blood coagulation	IEA
GO:0007597	Process	Blood coagulation, intrinsic pathway	IPI	10501658
GO:0007597	Process	Blood coagulation, intrinsic pathway	NAS	16293600
GO:0007599	Process	Hemostasis	IEA
GO:0010572	Process	Positive regulation of platelet activation	IDA	1939645
GO:0010572	Process	Positive regulation of platelet activation	NAS	16293600
GO:0016020	Component	Membrane	IEA
GO:0030168	Process	Platelet activation	NAS	12871509
GO:0035855	Process	Megakaryocyte development	ISO
GO:0035855	Process	Megakaryocyte development	NAS	16293600
GO:0042802	Function	Identical protein binding	IPI	18674540
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IDA	1939645
GO:0051209	Process	Release of sequestered calcium ion into cytosol	NAS	16293600
GO:1990779	Component	Glycoprotein Ib-IX-V complex	IPI	1730602
GO:1990779	Component	Glycoprotein Ib-IX-V complex	NAS	16293600

MIM	HGNC	e!Ensembl
138720	4440	ENSG00000203618

P13224

Protein name

Platelet glycoprotein Ib beta chain (GP-Ib beta) (GPIb-beta) (GPIbB) (Antigen CD42b-beta) (CD antigen CD42c)

Protein function

Gp-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to von Willebrand factor, which is already bound to the subendothelium.

PDB

3REZ , 3RFE , 8WFS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01463	LRRCT	115 → 142	Leucine rich repeat C-terminal domain	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in heart and brain. {ECO:0000269|PubMed:8200976}.

Sequence

MGSGPRGALSLLLLLLAPPSRPAAGCPAPCSCAGTLVDCGRRGLTWASLPTAFPVDTTEL
VLTGNNLTALPPGLLDALPALRTAHLGANPWRCDCRLVPLRAWLAGRPERAPYRDLRCVA
PPALRGRLLPYLAEDELRAACAPGPLCWGALAAQLALLGLGLLHALLLVLLLCRLRRLRA
RARARAAARLSLTDPLVAERAGTDES

Sequence length

206

Interactions

View interactions

	KEGG		Reactome
	ECM-receptor interaction Platelet activation Hematopoietic cell lineage		Intrinsic Pathway of Fibrin Clot Formation GP1b-IX-V activation signalling Platelet Adhesion to exposed collagen Platelet Aggregation (Plug Formation)

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Bernard Soulier syndrome	Likely pathogenic; Pathogenic	rs1402804629, rs953345181, rs1375840544, rs2145796556, rs2145795850, rs1389191920, rs1197982563, rs2145796221, rs2517805607, rs2517805526, rs2517805015, rs2517804321, rs1402823262, rs2517805750, rs1216332861 View all (10 more)	RCV001782219 RCV002226807 RCV002254218 RCV002254219 RCV002254220 RCV002280916 RCV002254240 RCV002254241 RCV002281018 RCV002281019 RCV002281020 RCV002281021 RCV002283690 RCV003313834 RCV003313860 RCV003313887 RCV003447777 RCV005252687 RCV002222354 RCV003990949 RCV002222630 RCV005633668 RCV000852115 RCV005253113 RCV000851807
Bernard-Soulier syndrome, type B	Likely pathogenic; Pathogenic	rs587783648, rs121909752, rs730882059	RCV000146029 RCV000017415 RCV000017416
GP1BB-related disorder	Likely pathogenic	rs587783648	RCV004754313
Increased mean platelet volume	Likely pathogenic	rs121909752	RCV001003919
Macrothrombocytopenia	Likely pathogenic	rs121909752, rs1601248210, rs1601248859, rs1360071443, rs1254692009, rs1601247763, rs1601248245, rs1601248530	RCV001003920 RCV001003916 RCV001003922 RCV001003923 RCV000851819 RCV001003542 RCV001003917 RCV001003921
MACROTHROMBOCYTOPENIA, FAMILIAL, BERNARD-SOULIER TYPE	Likely pathogenic; Pathogenic	rs121909750, rs121909751	RCV000017413 RCV000017414
Mild macrothrombocytopenia	Likely pathogenic	rs1389191920	RCV002254239
Thrombocytopenia	Likely pathogenic; Pathogenic	rs121909752, rs1601248210, rs536874549, rs1601248859, rs1360071443	RCV000851693 RCV000852142 RCV000852027 RCV000851772 RCV000851797

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormal bleeding	Uncertain significance	rs1601248319	RCV000851649

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
22q11 Deletion Syndrome	Associate	30549403
Alzheimer Disease	Associate	35406633, 36471423
Bernard Soulier Syndrome	Associate	11754414, 12036872, 12447957, 15550031, 21699652, 21933849, 21993687, 23402648, 27291889, 33217855, 33813986, 34333846, 34638529, 40045897, 7949089, 8703016, 9116284 View all (2 more)
Blood Platelet Disorders	Associate	33813986
DiGeorge Syndrome	Inhibit	29851532
Encephalitis Herpes Simplex	Associate	33217855
Gilbert Disease	Associate	36173017
Hemorrhage	Associate	28064200
Macrothrombocytopenia Autosomal Dominant Tubb1 Related	Associate	28064200, 33813986
Squamous Cell Carcinoma of Head and Neck	Associate	28814981
Tomaculous neuropathy	Associate	34638529

GP1BB (glycoprotein Ib platelet subunit beta)