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

Gene Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2812
Gene name Gene Name - the full gene name approved by the HGNC.	Glycoprotein Ib platelet subunit beta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GP1BB
Synonyms (NCBI Gene) Gene synonyms aliases	BDPLT1, BS, CD42C, GPIBB, GPIbbeta
Chromosome Chromosome number	22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	22q11.21
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(35)

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

Transcription factors

Show/Hide all(2)

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	TAS
GO:0005887	Component	Integral component of plasma membrane	NAS	3353370
GO:0007155	Process	Cell adhesion	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	NAS	3353370
GO:0007596	Process	Blood coagulation	TAS
GO:0007597	Process	Blood coagulation, intrinsic pathway	TAS
GO:0030168	Process	Platelet activation	NAS	12871509
GO:0030168	Process	Platelet activation	TAS
GO:0042802	Function	Identical protein binding	IPI	18674540

MIM	HGNC	e!Ensembl
138720	4440	ENSG00000203618

Protein

UniProt ID

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 (37)

Disease term	Disease name	dbSNP ID	References
Causal
Arthritis	Arthritis, Juvenile arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	19565504
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074 View all (25 more)
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)
Barber say syndrome	Barber Say syndrome	rs1553565143, rs1553565140, rs869320750	21357716
Bernard soulier syndrome	Bernard-Soulier Syndrome, Bernard-Soulier syndrome, Bernard-Soulier Syndrome, Type B	rs121908061, rs121908063, rs121908065, rs267606849, rs5030764, rs121918036, rs121918037, rs28933377, rs28933378, rs121909750, rs121909752, rs730882059, rs587783648, rs1394634674, rs1555549041 View all (8 more)	10887115, 16978236, 9116284, 28064200, 12945881, 21357716, 16409472, 15213102, 12447957, 3258770, 12693941, 8089142, 27148783, 12958615, 22886561
Brooke-spiegler syndrome	Brooke-Spiegler syndrome	rs121908388, rs1597088499, rs121908389, rs121908390, rs1597052041, rs886040870, rs886040874, rs886040875, rs886040884, rs886040885, rs886040888	21357716
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322 View all (150 more)
Cerebral palsy	Cerebral Palsy	rs121918149, rs75184679, rs730880264, rs587777428, rs797045067, rs767399782, rs564185858, rs886039513
Cholelithiasis	Cholelithiasis	rs121918440, rs72552778, rs387906528, rs759202962, rs377160065, rs1051861187, rs757693457, rs752563752
Congenital heart defects	Congenital Heart Defects	rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321 View all (13 more)	15213848
Conotruncal anomaly face syndrome	CONOTRUNCAL ANOMALY FACE SYNDROME	rs28939675, rs1601294362
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Digeorge syndrome	DiGeorge Syndrome	rs587776825, rs1555895466
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328 View all (29 more)
Hearing loss	Conductive hearing loss	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Hirschsprung disease	Hirschsprung Disease	rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323 View all (4 more)
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Hyperthyroidism	Hyperthyroidism	rs121908861, rs121908864, rs121908874, rs121908875, rs121908876, rs121908877, rs121908873, rs121908880, rs121908883, rs121909258, rs6256, rs869312167
Hypoparathyroidism	Hypoparathyroidism	rs104893959, rs104894271, rs2134093224, rs104894272, rs6256, rs193922430, rs886037646, rs1554103179
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912 View all (22 more)
Macrothrombocytopenia	Macrothrombocytopenia, Autosomal dominant macrothrombocytopenia	rs121908063, rs5030764, rs121918037, rs80338835, rs80338834, rs80338829, rs121913655, rs80338831, rs121913656, rs80338826, rs80338828, rs587776808, rs80338827, rs121913657, rs876661302 View all (32 more)	28064200
Mental retardation	Mild Mental Retardation	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Migraine	Migraine Disorders	rs794727411
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562 View all (27 more)
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Persistent truncus arteriosus	Truncus Arteriosus, Persistent	rs267606914, rs1598737972, rs387906813
Polycystic kidney disease	Polycystic Kidney Diseases	rs119103233, rs886041027, rs886041028, rs137852944, rs28937907, rs137852947, rs137852948, rs137852949, rs137852950, rs267607048, rs2147483647, rs199476094, rs1567154953, rs199476095, rs199476096 View all (740 more)
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Tetralogy of fallot	Tetralogy of Fallot	rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288 View all (1 more)
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775
Vesicoureteral reflux	Vesico-Ureteral Reflux	rs587777684, rs148731211

Show/Hide Unknown Diseases (12)

Disease term	Disease name	Source
Unknown
22q11.2 deletion syndrome	22q11.2 deletion syndrome	ClinVar
Alloimmune thrombocytopenia	Fetal and neonatal alloimmune thrombocytopenia, Neonatal Alloimmune Thrombocytopenia	ClinVar
Asthma	Asthma	ClinVar
Chronic obstructive pulmonary disease	Chronic Obstructive Airway Disease	ClinVar
Major affective disorder	MAJOR AFFECTIVE DISORDER 2, MAJOR AFFECTIVE DISORDER 1, MAJOR AFFECTIVE DISORDER 4, MAJOR AFFECTIVE DISORDER 6, MAJOR AFFECTIVE DISORDER 7, MAJOR AFFECTIVE DISORDER 8, MAJOR AFFECTIVE DISORDER 9	ClinVar
Mental depression	Depressive disorder	ClinVar
Otitis media	Chronic otitis media	ClinVar
Ptosis	Blepharoptosis, Ptosis	ClinVar
Renal hypoplasia	Congenital hypoplasia of kidney	ClinVar
Specific learning disorder	Specific learning disability	ClinVar
Bernard Soulier Syndrome	Bernard-Soulier syndrome	GenCC
Rheumatoid arthritis	Rheumatoid arthritis	GWAS

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text Mining
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)