GP1BB

glycoprotein Ib platelet subunit beta, the group of CD molecules

Basic information

Region (hg38): 22:19723539-19724771

Links

ENSG00000203618NCBI:2812OMIM:138720HGNC:4440Uniprot:P13224AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • Bernard-Soulier syndrome (Supportive), mode of inheritance: AD
  • autosomal dominant macrothrombocytopenia (Supportive), mode of inheritance: AD
  • Bernard-Soulier syndrome (Strong), mode of inheritance: AR
  • Bernard-Soulier syndrome (Definitive), mode of inheritance: AR
  • Bernard-Soulier syndrome (Definitive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Bernard-Soulier syndrome; Giant platelet disorder, isolatedARHematologic; PharmacogenomicPreventive measures (eg, in the case of surgery) and treatment of bleeding episodes can be beneficial; Specific medications (eg, certain anesthetics) that interfere with platelet function should be avoidedHematologic18116504; 14081293; 6019024; 1901273; 8703016; 9116284; 9616133; 21173099; 21800012; 22102188

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GP1BB gene.

  • Bernard_Soulier_syndrome (48 variants)
  • not_specified (46 variants)
  • not_provided (31 variants)
  • GP1BB-related_disorder (14 variants)
  • Macrothrombocytopenia (12 variants)
  • Thrombocytopenia (9 variants)
  • Mild_macrothrombocytopenia (3 variants)
  • Bernard-Soulier_syndrome,_type_B (2 variants)
  • Abnormal_bleeding (2 variants)
  • MACROTHROMBOCYTOPENIA,_FAMILIAL,_BERNARD-SOULIER_TYPE (2 variants)
  • Increased_mean_platelet_volume (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GP1BB gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000407.5. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
19
clinvar
19
missense
2
clinvar
14
clinvar
62
clinvar
3
clinvar
81
nonsense
2
clinvar
4
clinvar
6
start loss
1
3
4
frameshift
5
clinvar
7
clinvar
12
splice donor/acceptor (+/-2bp)
0
Total 10 28 62 19 3

Highest pathogenic variant AF is 0.0000210104

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
GP1BBprotein_codingprotein_codingENST00000366425 21827
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.5120.42500000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.4595363.30.8380.000003411195
Missense in Polyphen1014.6020.68482381
Synonymous-0.6414136.11.140.00000198540
Loss of Function1.3302.050.008.84e-828

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
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.;
Pathway
Platelet activation - Homo sapiens (human);ECM-receptor interaction - Homo sapiens (human);Hematopoietic cell lineage - Homo sapiens (human);Platelet Aggregation Inhibitor Pathway, Pharmacodynamics;GP1b-IX-V activation signalling;Platelet Adhesion to exposed collagen;Platelet Aggregation (Plug Formation);Platelet activation, signaling and aggregation;Intrinsic Pathway of Fibrin Clot Formation;Hemostasis;Formation of Fibrin Clot (Clotting Cascade) (Consensus)

Haploinsufficiency Scores

pHI
0.161
hipred
Y
hipred_score
0.553
ghis
0.567

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
1.00

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Gp1bb
Phenotype
homeostasis/metabolism phenotype; hematopoietic system phenotype;

Gene ontology

Biological process
cell adhesion;cell surface receptor signaling pathway;blood coagulation;blood coagulation, intrinsic pathway;platelet activation
Cellular component
plasma membrane;integral component of plasma membrane
Molecular function
transmembrane signaling receptor activity;protein binding;identical protein binding