GP1BB (glycoprotein Ib platelet subunit beta)

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
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
Transcription factor Regulation Reference
GATA1 Activation 8703016
GATA1 Unknown 11418466
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(21)
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
138720 4440 ENSG00000203618
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  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)
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
bernard soulier syndrome Bernard Soulier syndrome rs1601248210, rs121909750, rs121909752, rs1601248889, rs1360071443, rs1601249021 N/A
Bernard Soulier Syndrome bernard-soulier syndrome, type b rs121909752, rs730882059, rs587783648 N/A
Macrothrombocytopenia Macrothrombocytopenia, familial, Bernard-Soulier type, macrothrombocytopenia rs121909750, rs1601248245, rs1601248530, rs121909751, rs1601248859, rs1360071443, rs121909752, rs1254692009, rs1601248210, rs1601247763 N/A
thrombocytopenia Thrombocytopenia rs536874549, rs1601248859, rs121909752, rs1360071443, rs1601248210 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Rheumatoid arthritis Rheumatoid arthritis N/A N/A GWAS
Show/Hide Text Mining Associations (11)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
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
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