GP1BA
gene geneOn this page
Also known as HPA-2CD42bGPIbalpha
Summary
GP1BA (glycoprotein Ib platelet subunit alpha, HGNC:4439) is a protein-coding gene on chromosome 17p13.2, encoding Platelet glycoprotein Ib alpha chain (P07359). GP-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to the A1 domain of vWF, which is already bound to the subendothelium.
Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that is linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the alpha subunit. Mutations in this gene result in Bernard-Soulier syndromes and platelet-type von Willebrand disease. The coding region of this gene is known to contain a polymophic variable number tandem repeat (VNTR) domain that is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy.
Source: NCBI Gene 2811 — RefSeq curated summary.
At a glance
- Gene–disease (curated): Bernard-Soulier syndrome (Definitive, ClinGen) — +3 more curated relationships
- GWAS associations: 17
- Clinical variants (ClinVar): 337 total — 20 pathogenic, 68 likely-pathogenic
- Phenotypes (HPO): 50
- Druggable target: yes
- MANE Select transcript:
NM_000173
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4439 |
| Approved symbol | GP1BA |
| Name | glycoprotein Ib platelet subunit alpha |
| Location | 17p13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HPA-2, CD42b, GPIbalpha |
| Ensembl gene | ENSG00000185245 |
| Ensembl biotype | protein_coding |
| OMIM | 606672 |
| Entrez | 2811 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000329125
RefSeq mRNA: 1 — MANE Select: NM_000173
NM_000173
CCDS: CCDS54068
Canonical transcript exons
ENST00000329125 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001645621 | 4932277 | 4932365 |
| ENSE00002252699 | 4932599 | 4935023 |
Expression profiles
Bgee: expression breadth ubiquitous, 186 present calls, max score 86.47.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.0235 / max 395.5119, expressed in 147 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 158963 | 1.5350 | 134 |
| 158964 | 0.2319 | 55 |
| 158962 | 0.2088 | 54 |
| 158961 | 0.0479 | 12 |
Top tissues by expression
274 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| monocyte | CL:0000576 | 86.47 | gold quality |
| mononuclear cell | CL:0000842 | 86.10 | gold quality |
| leukocyte | CL:0000738 | 85.49 | gold quality |
| lymph node | UBERON:0000029 | 82.16 | gold quality |
| buccal mucosa cell | CL:0002336 | 78.59 | silver quality |
| secondary oocyte | CL:0000655 | 76.24 | gold quality |
| pancreatic ductal cell | CL:0002079 | 75.96 | silver quality |
| cervix squamous epithelium | UBERON:0006922 | 75.62 | silver quality |
| trabecular bone tissue | UBERON:0002483 | 75.28 | silver quality |
| tongue squamous epithelium | UBERON:0006919 | 75.24 | gold quality |
| diaphragm | UBERON:0001103 | 74.65 | gold quality |
| granulocyte | CL:0000094 | 74.36 | gold quality |
| oocyte | CL:0000023 | 73.27 | gold quality |
| blood | UBERON:0000178 | 73.10 | gold quality |
| bone marrow cell | CL:0002092 | 72.80 | silver quality |
| olfactory bulb | UBERON:0002264 | 72.64 | gold quality |
| ileal mucosa | UBERON:0000331 | 72.53 | gold quality |
| tibialis anterior | UBERON:0001385 | 72.22 | silver quality |
| type B pancreatic cell | CL:0000169 | 71.96 | gold quality |
| bone marrow | UBERON:0002371 | 71.27 | gold quality |
| endothelial cell | CL:0000115 | 70.80 | gold quality |
| vermiform appendix | UBERON:0001154 | 70.36 | gold quality |
| caecum | UBERON:0001153 | 69.89 | gold quality |
| tonsil | UBERON:0002372 | 69.76 | gold quality |
| periodontal ligament | UBERON:0008266 | 69.50 | gold quality |
| hair follicle | UBERON:0002073 | 68.16 | gold quality |
| cranial nerve II | UBERON:0000941 | 68.09 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 67.45 | gold quality |
| quadriceps femoris | UBERON:0001377 | 67.25 | gold quality |
| vastus lateralis | UBERON:0001379 | 67.08 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9388 | yes | 359.41 |
| E-CURD-112 | yes | 35.07 |
| E-HCAD-10 | yes | 17.61 |
| E-ANND-3 | no | 2.15 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ETV6, FLI1, GATA1, RUNX1, ZBTB16
miRNA regulators (miRDB)
36 targeting GP1BA, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-8067 | 99.86 | 69.59 | 2260 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-7844-5P | 99.55 | 68.56 | 1428 |
| HSA-MIR-4762-3P | 99.43 | 69.72 | 2363 |
| HSA-MIR-942-5P | 99.41 | 68.40 | 1977 |
| HSA-MIR-3182 | 99.40 | 68.15 | 2454 |
| HSA-MIR-4999-5P | 99.35 | 69.15 | 926 |
| HSA-MIR-4505 | 99.27 | 67.81 | 2678 |
| HSA-MIR-4727-5P | 99.23 | 67.55 | 1154 |
| HSA-MIR-5787 | 99.22 | 67.86 | 2628 |
| HSA-MIR-3199 | 99.17 | 65.19 | 696 |
| HSA-MIR-8052 | 99.17 | 65.01 | 719 |
| HSA-MIR-6738-3P | 99.03 | 67.14 | 1326 |
| HSA-MIR-3611 | 98.76 | 68.76 | 1290 |
| HSA-MIR-6811-3P | 98.62 | 66.54 | 944 |
Literature-anchored findings (GeneRIF, showing 40)
- The von Willebrand factor- and thrombin-binding activities of recombinant GPIb alpha(1-289) expressed in a baculovirus/insect cell system are identical to those of an equivalent fragment derived from human platelets. (PMID:11437595)
- Two compound heterozygotes for the GPIbalpha gene(a maternal T insertion at position 1418 causing a translational frameshift and premature polypeptide termination, and a paternal T715A substitution changing Cys209 to Ser)had Bernard-Soulier syndrome. (PMID:11776304)
- GP Ibalpha initiates ERK activation, and regulates ERK-induced EC migration on vWF. (PMID:11776327)
- Molecular models of the 7 Leu-rich repeats of human GPIb alpha, illustrate the species-specific interaction between human vWF and its receptor. A large negatively charged patch exists on the concave face of repeats 2-4. (PMID:11858495)
- Platelet glycoprotein Ib function and reactivity of platelets was studied in diabetic and non-diabetic hemodialysed pts. GP1B level and function was decreased only in non-DM pts. (PMID:11858499)
- The Kozak sequence polymorphism of the glycoprotein Ib alpha gene had no impact on the risk of coronary heart disease, its effect on extent of CHD remains to be seen. (PMID:11859854)
- Absence of GPIbalpha is responsible for aberrant membrane development during megakaryocyte maturation; leads to abnormal partitioning of the membrane systems and abnormal proplatelet production. (PMID:11937271)
- Site-directed mutagenesis demonstrates residues involved in the sulfation of tyrosines 276, 278, and 279 and residues crucial for botrocetin-mediated VWF binding. (PMID:12036871)
- Hypercholesterolemia primes platelets for recruitment via VWF, GPIb alpha, and P-selectin to lesion-prone sites, before lesions are detectable. Platelet tethering to vascular endothelium was mainly mediated by platelet GPIb alpha (PMID:12036879)
- the rGPIa/IIa-collagen interaction dominates the adhesion of rGPIa/IIa-Ib alpha-liposomes to the collagen surface at low shear rates; the rGPIa/IIa-collagen and rGPIb alpha-VWF interactions synergistically support liposome adhesion at high shear rates. (PMID:12070018)
- crystal structure of N-terminal domain reveals an unmasking mechanism for receptor activation (PMID:12087105)
- Ligand binding of GPIb, without receptor clustering, is sufficient to activate Src. (PMID:12393736)
- structure-activity relationship of mutations found in Bernard-Soulier syndrome (PMID:12463594)
- The polymorphisms affecting the structure or level of the main adhesive platelet glycoproteins (GPs) plays a minor role in genetic risk factors for arterial thrombotic disorders. (PMID:12499711)
- A role of the GPIb alpha intracellular domain was shown. VWF-dependent adhesion of cells containing deletions of the entire (Delta 518-610) or portions (Delta 535-568, Delta 569-610) of the GPIb alpha cytoplasmic tail was insensitive to RAM.1 inhibition. (PMID:12522011)
- The cytoplasmic domain of GPIb alpha is important in the GPIb-IX-von Willebrand factor interaction under both static and flow conditions, modulating the strength of the bond between receptor and ligand. (PMID:12590614)
- analysis of kinetic and mechanical properties of tether bonds formed between patient VWD platelets and the A1-domain of VWF indicate that GPIba mutation, Gly233Val, promotes and stabilizes platelet adhesion to VWF (PMID:12637314)
- binding of thrombin to GPIbalpha induces fibrin binding to resting alphaIIbbeta3 leading to fibrin-dependent platelet aggregation and clot retraction, that can be selectively inhibited by alphaIIbbeta3 antagonists (PMID:12719784)
- shear-dependent VWF-induced platelet activation affects filamin A binding to GpIb-IX-V, and filamin A binding to the cytoplasmic tail of GpIbalpha regulates proaggregatory tyrosine kinase signaling. (PMID:12791664)
- determined the structure of platelet glycoprotein Ibalpha (GpIbalpha) bound to thrombin at 2.3 angstrom resolution and defined two sites in GpIbalpha that bind to exosite II and exosite I of two distinct alpha-thrombin molecules, respectively (PMID:12855810)
- crystal structure of the GpIbalpha-thrombin complex at 2.6 angstrom resolution reveals simultaneous interactions of GpIbalpha with exosite I of one thrombin molecule, and with exosite II of a second thrombin molecule (PMID:12855811)
- in human platelets, GPIbalpha and ADP act in synergy to amplify PAR1 coupled responses while PAR4 is activated independently of GPIbalpha and ADP. (PMID:12871418)
- Convulxin binds weakly to murine platelet GPIb alpha but more strongly to human platelet GPIb alpha (PMID:12881531)
- Mac-1 and glycoprotein Ib bind in an interaction mediated by high molecular weight kininogen (PMID:12952972)
- GPIb translocation is powered by a contractile mechanism involving Ca2+ mobilization, actin polymerization, and myosin incorporation into the cytoskeleton and both PAR-1 and PAR-4 can activate this process (PMID:14521606)
- association between the presence of different VNTR alleles of GP Ibalpha and the frequency of coronary heart disease (PMID:14592833)
- The presence of the VNTR B allele of glycoprotein Ibalpha confers a significant risk for NAION (nonarteritic anterior ischemic optic neuropathy) (PMID:14711733)
- binding of thrombin to GPIbalpha induced an intracellular signaling leading to the interaction of the platelet integrin alphaIIbbeta3 with the fibrin-dodecapeptide sequence of the gamma chain (PMID:14961148)
- in the absence of GPIbalpha or following inhibition of thrombin binding to GPIbalpha, there is a reduction in the thrombin-induced calcium flux, beta3 cleavage and micro -calpain activation. (PMID:15045135)
- existence of a second major 14-3-3zeta binding site within the cytoplasmic tail of GPIbalpha that has an important functional role in regulating integrin-dependent cell spreading. (PMID:15054037)
- Results suggest that von Willebrand factor domain A1 inhibits the cleavage of domain A2 by ADAMTS13, and that inhibition can be relieved by interaction of domain A1 with platelet platelet glycoprotein Ibalpha or certain glycosaminoglycans. (PMID:15249683)
- VNTR of the GPIba gene may have a role in development of myocardial infarction (PMID:15269835)
- The homozygous glycoprotein 1b alpha (-5)T/C Kozak polymorphism increases the risk of ischemic cerebrovascular events 3.5 fold, consistent with its reported gene dose effect on GP 1b alpha/IX/V receptor density on platelets. (PMID:15311155)
- binding of FXI to GPIbalpha is mediated by amino acids in the A3 domain in the presence or absence of HK. (PMID:15317813)
- AP1 protein binds to specific region, which facilitates binding to Von Willebrand factor. (PMID:15319289)
- FXI binds to glycoprotein Ibalpha at sites comprising the leucine-rich repeat sequences within the NH2-terminal globular domain that are separate and distinct from the thrombin-binding site (PMID:15375170)
- Streptoccus gordonii Gspb and Hsa mediate streptococcal adherence to sialylated platelet membrane glycoprotein Ibalpha (PMID:15501784)
- the association involves an interaction between the ectodomains of GPIb alpha and GPVI (PMID:15841318)
- a gain-of-function phenotype resulting from mutations in the LRR region of GP Ibalpha; data suggest that the LRRs regulate GP Ibalpha affinity for VWF allosterically (PMID:15933060)
- analysis of platelet glycoprotein I(b)alpha and integrin alpha2beta1 polymorphisms in diverse populations (PMID:15978109)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Gp1ba | ENSMUSG00000050675 |
| rattus_norvegicus | Gp1ba | ENSRNOG00000025959 |
Paralogs (22): DCN (ENSG00000011465), RTN4R (ENSG00000040608), ASPN (ENSG00000106819), FLRT3 (ENSG00000125848), FLRT1 (ENSG00000126500), LRRC4 (ENSG00000128594), LRRC4B (ENSG00000131409), PODNL1 (ENSG00000132000), LRTM1 (ENSG00000144771), LRRC4C (ENSG00000148948), LRRTM1 (ENSG00000162951), LRRC15 (ENSG00000172061), PODN (ENSG00000174348), LRRTM4 (ENSG00000176204), BGN (ENSG00000182492), LRRC19 (ENSG00000184434), FLRT2 (ENSG00000185070), RTN4RL1 (ENSG00000185924), RTN4RL2 (ENSG00000186907), NYX (ENSG00000188937), LRRC66 (ENSG00000188993), LRRTM3 (ENSG00000198739)
Protein
Protein identifiers
Platelet glycoprotein Ib alpha chain — P07359 (reviewed: P07359)
Alternative names: Antigen CD42b-alpha
All UniProt accessions (1): P07359
UniProt curated annotations — full annotation on UniProt →
Function. GP-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to the A1 domain of vWF, which is already bound to the subendothelium.
Subunit / interactions. Two GP-Ib beta are disulfide-linked to one GP-Ib alpha. GP-IX is complexed with the GP-Ib heterodimer via a non covalent linkage. Interacts with FLNB. Interacts with FLNA (via filamin repeats 4, 9, 12, 17, 19, 21, and 23). (Microbial infection) Interacts with Staphylococcus aureus protein SSL5.
Subcellular location. Membrane.
Post-translational modifications. Glycocalicin is the product of a proteolytic cleavage/shedding, catalyzed by ADAM17, which releases most of the extracellular domain. Binding sites for vWF and thrombin are in this part of the protein.
Disease relevance. Non-arteritic anterior ischemic optic neuropathy (NAION) [MIM:258660] An autosomal recessive ocular disease due to ischemic injury to the optic nerve. It usually affects the optic disk and leads to visual loss and optic disk swelling of a pallid nature. Visual loss is usually sudden, or over a few days at most and is usually permanent, with some recovery possibly occurring within the first weeks or months. Patients with small disks having smaller or non-existent cups have an anatomical predisposition for non-arteritic anterior ischemic optic neuropathy. As an ischemic episode evolves, the swelling compromises circulation, with a spiral of ischemia resulting in further neuronal damage. Disease susceptibility is associated with variants affecting the gene represented in this entry. Bernard-Soulier syndrome (BSS) [MIM:231200] An autosomal recessive coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, thrombocytopenia, and impaired prothrombin consumption. The disease is caused by variants affecting the gene represented in this entry. Bernard-Soulier syndrome A2, autosomal dominant (BSSA2) [MIM:153670] A coagulation disorder characterized by mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet volume. Some individuals have no symptoms. Mild bleeding tendencies manifest as epistaxis, gingival bleeding, menorrhagia, easy bruising, or prolonged bleeding after dental surgery. The disease is caused by variants affecting the gene represented in this entry. von Willebrand disease, platelet-type (VWDP) [MIM:177820] An autosomal dominant bleeding disorder characterized by abnormally enhanced binding of von Willebrand factor by the platelet glycoprotein Ib (GP Ib) receptor complex. Hemostatic function is impaired due to the removal of VWF multimers from the circulation. The disease is caused by variants affecting the gene represented in this entry.
Polymorphism. Position 161 is associated with platelet-specific alloantigen Siba. Siba(-) has Thr-161 and Siba(+) has Met-161. Siba is involved in neonatal alloimmune thrombocytopenia (NATP). Polymorphisms arise from a variable number of tandem 13-amino acid repeats of S-E-P-A-P-S-P-T-T-P-E-P-T in the mucin-like macroglycopeptide (Pro/Thr-rich) domain. Allele D contains one repeat starting at position 415, allele C contains two repeats, allele B (shown here) contains three repeats and allele A contains four repeats. Allele B is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy.
Miscellaneous. Platelet activation apparently involves disruption of the macromolecular complex of GP-Ib with the platelet glycoprotein IX (GP-IX) and dissociation of GP-Ib from the actin-binding protein.
RefSeq proteins (1): NP_000164* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000372 | LRRNT | Domain |
| IPR000483 | Cys-rich_flank_reg_C | Domain |
| IPR001611 | Leu-rich_rpt | Repeat |
| IPR003591 | Leu-rich_rpt_typical-subtyp | Repeat |
| IPR032675 | LRR_dom_sf | Homologous_superfamily |
Pfam: PF01462, PF13855
UniProt features (124 total): glycosylation site 44, strand 17, sequence variant 13, helix 10, repeat 7, turn 6, modified residue 5, disulfide bond 5, compositionally biased region 3, mutagenesis site 3, chain 2, domain 2, topological domain 2, signal peptide 1, region of interest 1, site 1, transmembrane region 1, sequence conflict 1
Structure
Experimental structures (PDB)
22 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4CH2 | X-RAY DIFFRACTION | 1.6 |
| 1P9A | X-RAY DIFFRACTION | 1.7 |
| 4CH8 | X-RAY DIFFRACTION | 1.75 |
| 1M0Z | X-RAY DIFFRACTION | 1.85 |
| 3P72 | X-RAY DIFFRACTION | 1.9 |
| 4C2A | X-RAY DIFFRACTION | 2.08 |
| 8WE2 | X-RAY DIFFRACTION | 2.11 |
| 1OOK | X-RAY DIFFRACTION | 2.3 |
| 2BP3 | X-RAY DIFFRACTION | 2.32 |
| 4YR6 | X-RAY DIFFRACTION | 2.38 |
| 8WF6 | X-RAY DIFFRACTION | 2.47 |
| 1P8V | X-RAY DIFFRACTION | 2.6 |
| 1SQ0 | X-RAY DIFFRACTION | 2.6 |
| 1GWB | X-RAY DIFFRACTION | 2.8 |
| 1QYY | X-RAY DIFFRACTION | 2.8 |
| 4C2B | X-RAY DIFFRACTION | 2.8 |
| 1U0N | X-RAY DIFFRACTION | 2.95 |
| 1M10 | X-RAY DIFFRACTION | 3.1 |
| 4MGX | X-RAY DIFFRACTION | 3.16 |
| 3PMH | X-RAY DIFFRACTION | 3.2 |
| 6XFQ | X-RAY DIFFRACTION | 3.3 |
| 8WFS | ELECTRON MICROSCOPY | 3.36 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P07359-F1 | 64.65 | 0.38 |
Antibody-complex structures (SAbDab): 1 — 4YR6
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 506–507 (cleavage; by adam17)
Post-translational modifications (5): 292, 294, 295, 629, 632
Disulfide bonds (5): 20–33, 225–264, 227–280, 526, 527
Glycosylation sites (44): 37, 175, 308, 316, 320, 321, 328, 331, 340, 341, 345, 353, 354, 360, 364, 369, 371, 373, 379, 380 …
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 249 | no change. |
| 249 | decreased binding to vwf. |
| 249 | increased binding to vwf. |
Function
Pathways and Gene Ontology
Reactome pathways
11 pathways
| ID | Pathway |
|---|---|
| R-HSA-430116 | GP1b-IX-V activation signalling |
| R-HSA-75892 | Platelet Adhesion to exposed collagen |
| R-HSA-76009 | Platelet Aggregation (Plug Formation) |
| R-HSA-8936459 | RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function |
| R-HSA-9673221 | Defective F9 activation |
| R-HSA-9769739 | Regulation of clotting cascade |
| R-HSA-9769743 | Amplification and propagation of coagulation cascade |
| R-HSA-9845620 | Enhanced binding of GP1BA variant to VWF multimer:collagen |
| R-HSA-9846298 | Defective binding of VWF variant to GPIb:IX:V |
| R-HSA-9935598 | FXIIa, PKa-dependent activation of coagulation pathway |
| R-HSA-140837 |
MSigDB gene sets: 286 (showing top):
GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_PROTEIN_ACTIVATION_CASCADE, GOBP_REGULATION_OF_WOUND_HEALING, GOBP_MYELOID_CELL_DEVELOPMENT, GOBP_REGULATION_OF_COAGULATION, REACTOME_PLATELET_AGGREGATION_PLUG_FORMATION, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, GOBP_PLATELET_ACTIVATION, GOCC_CELL_SURFACE, KONG_E2F3_TARGETS, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_NEGATIVE_REGULATION_OF_COAGULATION, GOBP_WOUND_HEALING, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS
GO Biological Process (13): cell morphogenesis (GO:0000902), cell adhesion (GO:0007155), cell surface receptor signaling pathway (GO:0007166), blood coagulation (GO:0007596), blood coagulation, intrinsic pathway (GO:0007597), positive regulation of platelet activation (GO:0010572), platelet activation (GO:0030168), regulation of blood coagulation (GO:0030193), megakaryocyte development (GO:0035855), fibrinolysis (GO:0042730), release of sequestered calcium ion into cytosol (GO:0051209), hemostasis (GO:0007599), thrombin-activated receptor signaling pathway (GO:0070493)
GO Molecular Function (3): thrombin-activated receptor activity (GO:0015057), signaling receptor activity (GO:0038023), protein binding (GO:0005515)
GO Cellular Component (6): plasma membrane (GO:0005886), external side of plasma membrane (GO:0009897), cell surface (GO:0009986), membrane (GO:0016020), extracellular exosome (GO:0070062), glycoprotein Ib-IX-V complex (GO:1990779)
Reactome top-level categories
Rollup of top-7 pathways:
| Category | Pathways |
|---|---|
| Platelet activation, signaling and aggregation | 2 |
| Coagulation pathway | 2 |
| Defects of platelet adhesion to exposed collagen | 2 |
| Hemostasis | 1 |
| Transcriptional regulation by RUNX1 | 1 |
| Defective factor IX causes hemophilia B | 1 |
| Regulation of clotting cascade | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| blood coagulation | 2 |
| cellular anatomical structure | 2 |
| anatomical structure morphogenesis | 1 |
| cellular process | 1 |
| signal transduction | 1 |
| hemostasis | 1 |
| wound healing | 1 |
| coagulation | 1 |
| protein activation cascade | 1 |
| blood coagulation, fibrin clot formation | 1 |
| regulation of platelet activation | 1 |
| platelet activation | 1 |
| positive regulation of cell activation | 1 |
| cell activation | 1 |
| regulation of response to external stimulus | 1 |
| regulation of coagulation | 1 |
| regulation of wound healing | 1 |
| regulation of hemostasis | 1 |
| megakaryocyte differentiation | 1 |
| myeloid cell development | 1 |
| negative regulation of blood coagulation | 1 |
| intercellular transport | 1 |
| calcium ion transmembrane import into cytosol | 1 |
| regulation of body fluid levels | 1 |
| G protein-coupled receptor signaling pathway | 1 |
| proteinase-activated receptor activity | 1 |
| thrombin-activated receptor signaling pathway | 1 |
| molecular transducer activity | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| plasma membrane | 1 |
| cell surface | 1 |
| side of membrane | 1 |
| extracellular vesicle | 1 |
| glycoprotein complex | 1 |
| plasma membrane signaling receptor complex | 1 |
Protein interactions and networks
STRING
1640 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GP1BA | VWF | P04275 | 999 |
| GP1BA | GP9 | P14770 | 999 |
| GP1BA | GP1BB | P13224 | 999 |
| GP1BA | SELP | P16109 | 998 |
| GP1BA | FLNA | P21333 | 987 |
| GP1BA | ITGAM | P11215 | 982 |
| GP1BA | ITGB2 | P05107 | 977 |
| GP1BA | ITGA2B | P08514 | 948 |
| GP1BA | ADAMTS13 | Q76LX8 | 931 |
| GP1BA | GP6 | Q9HCN6 | 917 |
| GP1BA | FLNB | O75369 | 906 |
| GP1BA | SELPLG | Q14242 | 900 |
| GP1BA | ITGB3 | P05106 | 862 |
| GP1BA | FN1 | P02751 | 841 |
| GP1BA | FLNC | Q14315 | 832 |
IntAct
24 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GP9 | GP1BA | psi-mi:“MI:0914”(association) | 0.790 |
| GP1BA | GP9 | psi-mi:“MI:2364”(proximity) | 0.790 |
| GP1BA | GP1BB | psi-mi:“MI:0407”(direct interaction) | 0.700 |
| GP1BA | GP1BB | psi-mi:“MI:0915”(physical association) | 0.700 |
| GP1BA | VWF | psi-mi:“MI:0407”(direct interaction) | 0.620 |
| VWF | GP1BA | psi-mi:“MI:0407”(direct interaction) | 0.620 |
| GP1BA | YWHAZ | psi-mi:“MI:0914”(association) | 0.530 |
| GP1BA | NECTIN2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GP1BA | S | psi-mi:“MI:0915”(physical association) | 0.400 |
| GP1BA | F2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ECE1 | GP1BA | psi-mi:“MI:0915”(physical association) | 0.370 |
| GP1BA | YWHAB | psi-mi:“MI:0914”(association) | 0.350 |
| GP1BA | YWHAE | psi-mi:“MI:0914”(association) | 0.350 |
| GP1BA | YWHAH | psi-mi:“MI:0914”(association) | 0.350 |
| GP1BA | YWHAG | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAQ | GP1BA | psi-mi:“MI:0914”(association) | 0.350 |
| FLNA | GP1BA | psi-mi:“MI:2364”(proximity) | 0.270 |
| F12 | GP1BA | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (39): FLNA (Co-localization), F12 (Co-localization), GP9 (Affinity Capture-Western), GP1BB (Affinity Capture-Western), YWHAZ (Affinity Capture-Western), VWF (Reconstituted Complex), VWF (Far Western), GP1BA (Affinity Capture-MS), GP1BA (Affinity Capture-Western), YWHAZ (Affinity Capture-Western), PIK3R1 (Affinity Capture-Western), CALM1 (Affinity Capture-Western), SRC (Affinity Capture-Western), LYN (Affinity Capture-Western), PIK3R1 (Affinity Capture-Western)
ESM2 similar proteins: A0A1B0GUW6, A0A2R8Y7Y5, A4FU49, A6QLF8, A6QQS3, I3L273, J3KML8, O00592, O35930, P06484, P07359, P0C671, P34910, Q1ECS6, Q3MIW9, Q3TNW5, Q3V3Q4, Q4R729, Q52S86, Q5SWP3, Q5VYM1, Q62170, Q64519, Q6AZ54, Q6MG22, Q6UXF1, Q7TSG5, Q7Z434, Q7Z7G0, Q810T2, Q8BHE4, Q8JZQ0, Q8K4E0, Q8N1P7, Q8N3K9, Q8N5Q1, Q8TCU4, Q8VD58, Q95JY5, Q96KW9
Diamond homologs: A3KNN3, A6H789, A6H793, A6NJW4, A8WHP9, E7FE13, F1MLX5, G5EFX6, O02678, O02833, O35367, O46378, O46379, O46542, O60938, O62702, O75093, O75094, O88279, O88280, O94813, P07359, P07585, P21793, P24014, P28654, P28675, P35858, P35859, P51884, P51885, P51886, P51888, P51890, P58874, P59034, P59035, P70186, P70389, P83286
SIGNOR signaling
4 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| GATA1 | “up-regulates quantity by expression” | GP1BA | “transcriptional regulation” |
| RUNX1 | “up-regulates quantity by expression” | GP1BA | “transcriptional regulation” |
| GP1BA | “form complex” | “GPIb-IX-V complex” | binding |
| ADAM17 | “down-regulates activity” | GP1BA | cleavage |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 15 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Activation of BAD and translocation to mitochondria | 6 | 326.3× | 4e-13 |
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 6 | 287.9× | 5e-13 |
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 6 | 287.9× | 5e-13 |
| Activation of BH3-only proteins | 6 | 212.8× | 3e-12 |
| RHO GTPases activate PKNs | 6 | 135.9× | 5e-11 |
| Intrinsic Pathway for Apoptosis | 6 | 125.5× | 7e-11 |
| SARS-CoV-1-host interactions | 6 | 75.3× | 2e-09 |
| Apoptosis | 6 | 72.0× | 2e-09 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein targeting | 5 | 130.8× | 2e-08 |
| intracellular protein localization | 6 | 44.9× | 1e-07 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
337 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 20 |
| Likely pathogenic | 68 |
| Uncertain significance | 161 |
| Likely benign | 54 |
| Benign | 13 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1677212 | NM_000173.7(GP1BA):c.241T>C (p.Cys81Arg) | Pathogenic |
| 1677260 | NM_000173.7(GP1BA):c.1326_1334del (p.Glu442_Pro445delinsAsp) | Pathogenic |
| 1677261 | NM_000173.7(GP1BA):c.58T>G (p.Cys20Gly) | Pathogenic |
| 1677262 | NM_000173.7(GP1BA):c.793G>T (p.Asp265Tyr) | Pathogenic |
| 1677263 | NM_000173.7(GP1BA):c.746G>A (p.Gly249Asp) | Pathogenic |
| 1679419 | NM_000173.7(GP1BA):c.499G>T (p.Glu167Ter) | Pathogenic |
| 1684364 | NM_000173.7(GP1BA):c.737G>T (p.Trp246Leu) | Pathogenic |
| 1691251 | NM_000173.7(GP1BA):c.1480del (p.Thr494fs) | Pathogenic |
| 1691252 | NM_000173.7(GP1BA):c.674G>C (p.Cys225Ser) | Pathogenic |
| 1703858 | NM_000173.7(GP1BA):c.1846_1852del (p.Asn616fs) | Pathogenic |
| 2137887 | NM_000173.7(GP1BA):c.1454dup (p.Ser486fs) | Pathogenic |
| 2572131 | NM_000173.7(GP1BA):c.1408del (p.Ser470fs) | Pathogenic |
| 4156 | NM_000173.7(GP1BA):c.515C>T (p.Ala172Val) | Pathogenic |
| 4157 | NM_000173.7(GP1BA):c.1620G>A (p.Trp540Ter) | Pathogenic |
| 435347 | NM_000173.7(GP1BA):c.673T>A (p.Cys225Ser) | Pathogenic |
| 4539007 | NM_000173.7(GP1BA):c.1562_1563del (p.Leu521fs) | Pathogenic |
| 627001 | NM_000173.7(GP1BA):c.148_149del (p.Thr50fs) | Pathogenic |
| 872580 | NM_000173.7(GP1BA):c.986G>A (p.Trp329Ter) | Pathogenic |
| 872581 | NM_000173.7(GP1BA):c.1601_1602del (p.Tyr534fs) | Pathogenic |
| 988865 | NM_000173.7(GP1BA):c.1274_1275del (p.Glu425fs) | Pathogenic |
| 1013123 | NM_000173.7(GP1BA):c.1792_1795del (p.Leu598fs) | Likely pathogenic |
| 1031446 | NM_000173.7(GP1BA):c.673T>C (p.Cys225Arg) | Likely pathogenic |
| 1324497 | NM_000173.7(GP1BA):c.1263_1264del (p.Thr422fs) | Likely pathogenic |
| 1676741 | NM_000173.7(GP1BA):c.169A>G (p.Asn57Asp) | Likely pathogenic |
| 1677265 | NM_000173.7(GP1BA):c.247C>T (p.Leu83Phe) | Likely pathogenic |
| 1684365 | NM_000173.7(GP1BA):c.434T>C (p.Leu145Pro) | Likely pathogenic |
| 1684366 | NM_000173.7(GP1BA):c.1951dup (p.Ser651fs) | Likely pathogenic |
| 1684370 | NM_000173.7(GP1BA):c.1283C>G (p.Ser428Ter) | Likely pathogenic |
| 1684403 | NM_000173.7(GP1BA):c.98G>A (p.Cys33Tyr) | Likely pathogenic |
| 2440587 | NM_000173.7(GP1BA):c.1480dup (p.Thr494fs) | Likely pathogenic |
SpliceAI
187 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:4932362:GCCT:G | donor_gain | 1.0000 |
| 17:4932624:T:A | acceptor_gain | 1.0000 |
| 17:4932347:G:GT | donor_gain | 0.9900 |
| 17:4932366:G:GG | donor_gain | 0.9900 |
| 17:4932593:CCACA:C | acceptor_loss | 0.9700 |
| 17:4932596:C:G | acceptor_loss | 0.9700 |
| 17:4932597:A:AC | acceptor_loss | 0.9700 |
| 17:4932598:G:GC | acceptor_loss | 0.9700 |
| 17:4932664:TG:T | acceptor_gain | 0.9700 |
| 17:4932361:TGCCT:T | donor_gain | 0.9600 |
| 17:4932362:GCCTG:G | donor_gain | 0.9600 |
| 17:4932364:CT:C | donor_gain | 0.9600 |
| 17:4932367:T:G | donor_loss | 0.9600 |
| 17:4932665:G:GT | acceptor_gain | 0.9600 |
| 17:4932363:CCT:C | donor_gain | 0.9500 |
| 17:4932368:AAG:A | donor_loss | 0.9500 |
| 17:4932662:TGTG:T | acceptor_gain | 0.9500 |
| 17:4932351:T:TA | donor_gain | 0.9200 |
| 17:4932633:T:A | acceptor_gain | 0.9200 |
| 17:4932630:T:TA | acceptor_gain | 0.9100 |
| 17:4932597:A:AG | acceptor_gain | 0.8900 |
| 17:4932598:G:GG | acceptor_gain | 0.8900 |
| 17:4932352:C:A | donor_gain | 0.8800 |
| 17:4932621:T:A | acceptor_gain | 0.8500 |
| 17:4932370:G:C | donor_loss | 0.8400 |
| 17:4932598:GGTC:G | acceptor_gain | 0.8400 |
| 17:4932661:CTGTG:C | acceptor_gain | 0.8300 |
| 17:4932353:T:TG | donor_gain | 0.7900 |
| 17:4932373:GGG:G | donor_gain | 0.7600 |
| 17:4932374:GGG:G | donor_gain | 0.7600 |
AlphaMissense
4165 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:4933273:G:C | W223C | 0.998 |
| 17:4933273:G:T | W223C | 0.998 |
| 17:4933271:T:A | W223R | 0.995 |
| 17:4933271:T:C | W223R | 0.995 |
| 17:4933394:T:A | C264S | 0.995 |
| 17:4933395:G:C | C264S | 0.995 |
| 17:4933309:G:C | W235C | 0.994 |
| 17:4933309:G:T | W235C | 0.994 |
| 17:4933277:T:A | C225S | 0.993 |
| 17:4933278:G:C | C225S | 0.993 |
| 17:4933110:T:C | L169P | 0.992 |
| 17:4933131:T:C | L176S | 0.992 |
| 17:4933198:C:A | N198K | 0.992 |
| 17:4933198:C:G | N198K | 0.992 |
| 17:4933253:T:C | F217L | 0.992 |
| 17:4933255:T:A | F217L | 0.992 |
| 17:4933255:T:G | F217L | 0.992 |
| 17:4933394:T:C | C264R | 0.992 |
| 17:4932982:C:A | N126K | 0.990 |
| 17:4932982:C:G | N126K | 0.990 |
| 17:4933278:G:A | C225Y | 0.990 |
| 17:4933054:T:A | N150K | 0.989 |
| 17:4933054:T:G | N150K | 0.989 |
| 17:4933188:T:A | L195H | 0.989 |
| 17:4933311:T:C | L236P | 0.989 |
| 17:4933277:T:C | C225R | 0.988 |
| 17:4933126:C:A | N174K | 0.987 |
| 17:4933126:C:G | N174K | 0.987 |
| 17:4933182:T:C | L193P | 0.987 |
| 17:4933196:A:T | N198Y | 0.987 |
dbSNP variants (sampled 300 via entrez): RS1000776968 (17:4931578 C>T), RS1000783070 (17:4933519 G>C), RS1000836753 (17:4933712 A>G), RS1001693764 (17:4934761 T>G), RS1001788424 (17:4934801 C>A,T), RS1002715460 (17:4930937 A>G,T), RS1004006658 (17:4931977 C>T), RS1004130544 (17:4932179 G>A), RS1004339214 (17:4930929 TTAGG>T), RS1005076777 (17:4932055 C>T), RS1005736598 (17:4934703 A>G), RS1006488234 (17:4935032 T>C), RS1006973813 (17:4935337 G>A), RS1007152155 (17:4932475 T>A,C), RS1007482772 (17:4934066 T>G)
Disease associations
OMIM: gene MIM:606672 | disease phenotypes: MIM:231200, MIM:177820, MIM:153670, MIM:258660
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| Bernard-Soulier syndrome | Definitive | Autosomal recessive |
| platelet-type von Willebrand disease | Strong | Autosomal dominant |
| Bernard-Soulier syndrome, type A2, autosomal dominant | Strong | Autosomal dominant |
| autosomal dominant macrothrombocytopenia | Supportive | Autosomal dominant |
ClinGen Gene-Disease Validity (2)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| Bernard-Soulier syndrome | Definitive | AR |
| platelet-type von Willebrand disease | Definitive | AD |
Mondo (7): Bernard-Soulier syndrome (MONDO:0009276), platelet-type von Willebrand disease (MONDO:0008332), Bernard-Soulier syndrome, type A2, autosomal dominant (MONDO:0007930), nonarteritic anterior ischemic optic neuropathy, susceptibility to (MONDO:0009789), CIC-rearranged sarcoma (MONDO:0956989), thrombocytopenia (MONDO:0002049), autosomal dominant macrothrombocytopenia (MONDO:0015372)
Orphanet (2): Bernard-Soulier syndrome (Orphanet:274), Pseudo-von Willebrand disease (Orphanet:52530)
HPO phenotypes
50 total (30 of 50 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000132 | Menorrhagia |
| HP:0000225 | Gingival bleeding |
| HP:0000421 | Epistaxis |
| HP:0000618 | Blindness |
| HP:0000707 | Abnormality of the nervous system |
| HP:0000790 | Hematuria |
| HP:0000967 | Petechiae |
| HP:0000978 | Bruising susceptibility |
| HP:0000979 | Purpura |
| HP:0001250 | Seizure |
| HP:0001263 | Global developmental delay |
| HP:0001744 | Splenomegaly |
| HP:0001873 | Thrombocytopenia |
| HP:0001878 | Hemolytic anemia |
| HP:0001892 | Abnormal bleeding |
| HP:0001902 | Giant platelets |
| HP:0002076 | Migraine |
| HP:0002099 | Asthma |
| HP:0002138 | Subarachnoid hemorrhage |
| HP:0002170 | Intracranial hemorrhage |
| HP:0002239 | Gastrointestinal hemorrhage |
| HP:0002248 | Hematemesis |
| HP:0002249 | Melena |
| HP:0003010 | Prolonged bleeding time |
| HP:0003577 | Congenital onset |
| HP:0004406 | Spontaneous, recurrent epistaxis |
| HP:0004446 | Stomatocytosis |
| HP:0004809 | Neonatal alloimmune thrombocytopenia |
GWAS associations
17 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000580_7 | Platelet count | 2.000000e-12 |
| GCST001337_48 | Platelet count | 3.000000e-11 |
| GCST004599_113 | Mean platelet volume | 8.000000e-10 |
| GCST004603_172 | Platelet count | 2.000000e-15 |
| GCST004616_73 | Platelet distribution width | 1.000000e-12 |
| GCST004616_74 | Platelet distribution width | 1.000000e-21 |
| GCST005991_41 | Platelet count | 5.000000e-60 |
| GCST006585_257 | Blood protein levels | 2.000000e-14 |
| GCST90002395_238 | Mean platelet volume | 9.000000e-30 |
| GCST90002395_266 | Mean platelet volume | 6.000000e-24 |
| GCST90002395_267 | Mean platelet volume | 2.000000e-19 |
| GCST90002400_201 | Plateletcrit | 2.000000e-18 |
| GCST90002401_576 | Platelet distribution width | 2.000000e-35 |
| GCST90002401_578 | Platelet distribution width | 3.000000e-41 |
| GCST90002402_433 | Platelet count | 1.000000e-13 |
| GCST90002402_435 | Platelet count | 2.000000e-32 |
| GCST90013442_27 | Keratoconus | 2.000000e-14 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004309 | platelet count |
| EFO:0007984 | platelet component distribution width |
| EFO:0007985 | platelet crit |
MeSH disease descriptors (3)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D001606 | Bernard-Soulier Syndrome | C15.378.100.100.080; C15.378.140.120; C15.378.463.080; C16.320.099.080 |
| D013921 | Thrombocytopenia | C15.378.140.855; C15.378.243.937 |
| C536458 | Von Willebrand disease, platelet type (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4630891 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
1 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs6065 | Efficacy | 3 | aspirin |
PharmGKB variants
2 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs6065 | GP1BA | 3 | 3.75 | 1 | aspirin |
| rs2243093 | GP1BA | 0.00 | 0 |
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Aspirin | increases response to substance, decreases response to substance, affects response to substance | 3 |
| aristolochic acid I | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| 6-hydroxy-2,5,7,8-tetramethylchroman-2-carboxylic acid | decreases reaction, increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment | 1 |
| phosphatidylinositol 3,4,5-triphosphate | affects binding, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one | decreases reaction, increases expression | 1 |
| alpha-cyano-(3,4-dihydroxy)-N-benzylcinnamide | decreases reaction, increases expression | 1 |
| U 0126 | decreases reaction, increases expression | 1 |
| pyrazolanthrone | increases expression, increases reaction | 1 |
| jinfukang | increases expression | 1 |
| prothioconazole | decreases expression | 1 |
| 10-(4’-(N-diethylamino)butyl)-2-chlorophenoxazine | decreases reaction, increases expression | 1 |
| Acetylcysteine | decreases reaction, increases expression | 1 |
| Amphotericin B | increases expression | 1 |
| Atrazine | increases expression | 1 |
| Vehicle Emissions | increases secretion | 1 |
| Benzene | decreases expression | 1 |
| Cholesterol | increases expression | 1 |
| Lipopolysaccharides | increases expression, affects response to substance, affects cotreatment | 1 |
| Tetradecanoylphorbol Acetate | decreases reaction, increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Urethane | increases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B8GX | Abcam HCT 116 GP1BA KO | Cancer cell line | Male |
| CVCL_B8WD | Abcam MCF-7 GP1BA KO | Cancer cell line | Female |
| CVCL_B9J6 | Abcam A-549 GP1BA KO | Cancer cell line | Male |
Clinical trials (associated diseases)
243 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00039858 | PHASE4 | COMPLETED | Evaluation of Argatroban Injection in Pediatric Patients Requiring Anticoagulant Alternatives to Heparin |
| NCT00239733 | PHASE4 | TERMINATED | Anti-D for Treating Thrombocytopenia in Adults Infected With Hepatitis C Virus With or Without HIV Co-Infection |
| NCT00907478 | PHASE4 | COMPLETED | Study on Bone Marrow Morphology in Adults Receiving Romiplostim for Treatment of Thrombocytopenia Associated With Immune Thrombocytopenia Purpura (ITP) |
| NCT01727401 | PHASE4 | TERMINATED | Thromboprophylaxis of Venous Thromboembolism in Acutely-ill Medical Inpatients With Thrombocytopenia |
| NCT02032134 | PHASE4 | TERMINATED | Protocol for the Infusion of Buffy Coat-derived Cryopreserved Platelets in Patients With Severe Thrombocytopenia |
| NCT02267993 | PHASE4 | COMPLETED | Efficacy and Safety of rhTPO for the Treatment of Thrombocytopenia After Chemotherapy in AML Patients |
| NCT03633019 | PHASE4 | UNKNOWN | High-dose Use of rhTPO in CIT Patients |
| NCT03688191 | PHASE4 | UNKNOWN | Study of Sirolimus in CTD-TP in China |
| NCT04906083 | PHASE4 | UNKNOWN | Avatrombopag in Patients With End-stage Liver Disease and Thrombocytopenia |
| NCT05217719 | PHASE4 | UNKNOWN | Effects of Recombinant Human Thrombopoietin on Platelet Levels in ICU Patients |
| NCT05255003 | PHASE4 | RECRUITING | STrategies for Anticoagulation in Patients With thRombocytopenia and Cancer-associated Thrombosis |
| NCT05382013 | PHASE4 | UNKNOWN | Efficacy and Safety of Avatrombopag for Treating TCP in HBV-ACLF Patients Receiving ALSS Treatment |
| NCT05944458 | PHASE4 | COMPLETED | Efficacy of Intravenous N-Acetylcysteine in Preventing Linezolid-Induced Thrombocytopenia in Critically Ill Patients |
| NCT06562738 | PHASE4 | RECRUITING | Clinical Study on Efficacy and Safety of Hetrombopag in the Preoperative Patients of Thrombocytopenia |
| NCT00037791 | PHASE3 | COMPLETED | Safety and Efficacy of (PN-152,243)/PN-196,444 in the Prevention of Thrombocytopenia |
| NCT00039910 | PHASE3 | COMPLETED | Safety and Efficacy of (PN-152,243)/PN-196,444 in the Prevention of Thrombocytopenia |
| NCT00073580 | PHASE3 | COMPLETED | Angiomax in Patients With HIT/HITTS Type II Undergoing Off-Pump Coronary Artery Bypass Grafting (CABG) (CHOOSE) |
| NCT00102323 | PHASE3 | COMPLETED | AMG 531 Treatment of Thrombocytopenic Subjects With Immune (Idiopathic) Thrombocytopenic Purpura (ITP) Refractory to Splenectomy |
| NCT00102336 | PHASE3 | COMPLETED | AMG 531 Treatment of Thrombocytopenic Subjects With Immune (Idiopathic) Thrombocytopenic Purpura (ITP) Prior to Splenectomy |
| NCT00116688 | PHASE3 | COMPLETED | Open Label Extension Study of Romiplostim (AMG 531) in Thrombocytopenic Patients With Immune (Idiopathic) Thrombocytopenic Purpura (ITP) |
| NCT00128713 | PHASE3 | COMPLETED | Optimal Platelet Dose Strategy for Management of Thrombocytopenia |
| NCT00151866 | PHASE3 | COMPLETED | Efficacy of Transfusions With Platelets Stored in Platelet Additive Solution II Versus Plasma |
| NCT00261924 | PHASE3 | COMPLETED | Efficacy and Safety Study of Platelets Treated for Pathogen Inactivation and Stored for Up to Seven Days |
| NCT00415532 | PHASE3 | COMPLETED | Romiplostim (AMG 531) Versus Medical Standard of Care for Immune (Idiopathic) Thrombocytopenic Purpura |
| NCT00420914 | PHASE3 | TERMINATED | Strategies for Transfusion of Platelets (SToP) |
| NCT00501345 | PHASE3 | TERMINATED | Aspirin in Patients With Myocardial Infarction and Thrombocytopenia |
| NCT00508820 | PHASE3 | COMPLETED | An Open Label Study of Romiplostim in Adult Thrombocytopenic Subjects With ITP |
| NCT00678587 | PHASE3 | TERMINATED | Eltrombopag To Reduce The Need For Platelet Transfusion In Subjects With Chronic Liver Disease And Thrombocytopenia Undergoing Elective Invasive Procedures |
| NCT01438840 | PHASE3 | COMPLETED | Efficacy and Safety of Oral E5501 Plus Standard of Care for the Treatment of Thrombocytopenia in Adults With Chronic Immune Thrombocytopenia (Amendment 02) |
| NCT01444417 | PHASE3 | COMPLETED | Safety and Efficacy Study of Romiplostim to Treat Immune Thrombocytopenia (ITP) in Pediatric Patients |
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Related Atlas pages
- Associated diseases: platelet-type von Willebrand disease, Bernard-Soulier syndrome, Bernard-Soulier syndrome, type A2, autosomal dominant, autosomal dominant macrothrombocytopenia
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): autosomal dominant macrothrombocytopenia, Bernard-Soulier syndrome, Bernard-Soulier syndrome, type A2, autosomal dominant, CIC-rearranged sarcoma, nonarteritic anterior ischemic optic neuropathy, susceptibility to, platelet-type von Willebrand disease, thrombocytopenia