MPIG6B

Summary

MPIG6B (megakaryocyte and platelet inhibitory receptor G6b, HGNC:13937) is a protein-coding gene on chromosome 6p21.33, encoding Megakaryocyte and platelet inhibitory receptor G6b (O95866). Inhibitory receptor that acts as a critical regulator of hematopoietic lineage differentiation, megakaryocyte function and platelet production.

This gene is a member of the immunoglobulin (Ig) superfamily and is located in the major histocompatibility complex (MHC) class III region. The protein encoded by this gene is a glycosylated, plasma membrane-bound cell surface receptor, but soluble isoforms encoded by some transcript variants have been found in the endoplasmic reticulum and Golgi before being secreted. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 80739 — RefSeq curated summary.

At a glance

• Gene–disease (curated): thrombocytopenia, anemia, and myelofibrosis (Definitive, ClinGen)
• GWAS associations: 27
• Clinical variants (ClinVar): 43 total — 4 pathogenic, 5 likely-pathogenic
• Phenotypes (HPO): 7
• MANE Select transcript: NM_138272

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13937
Approved symbol	MPIG6B
Name	megakaryocyte and platelet inhibitory receptor G6b
Location	6p21.33
Locus type	gene with protein product
Status	Approved
Aliases	G6b, NG31, G6b-B
Ensembl gene	ENSG00000204420
Ensembl biotype	protein_coding
OMIM	606520
Entrez	80739

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 7 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay

ENST00000375804, ENST00000375805, ENST00000375809, ENST00000375810, ENST00000375814, ENST00000460663, ENST00000466312, ENST00000471545, ENST00000480039, ENST00000485548, ENST00000649779

RefSeq mRNA: 6 — MANE Select: NM_138272 NM_025260, NM_138272, NM_138273, NM_138274, NM_138275, NM_138277

CCDS: CCDS34405, CCDS34406, CCDS34407, CCDS4715, CCDS4716, CCDS4717

Canonical transcript exons

ENST00000400071 — 0 exons

Expression profiles

Bgee: expression breadth ubiquitous, 125 present calls, max score 95.75.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 5.7861 / max 761.6543, expressed in 170 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
67030	5.7861	170

Top tissues by expression

127 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
monocyte	CL:0000576	95.75	gold quality
leukocyte	CL:0000738	95.16	gold quality
blood	UBERON:0000178	86.12	gold quality
granulocyte	CL:0000094	84.55	gold quality
bone marrow cell	CL:0002092	81.54	gold quality
skin of leg	UBERON:0001511	79.38	gold quality
zone of skin	UBERON:0000014	79.01	gold quality
bone marrow	UBERON:0002371	78.84	gold quality
skin of abdomen	UBERON:0001416	78.62	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.11	gold quality
lower esophagus mucosa	UBERON:0035834	76.85	gold quality
right lung	UBERON:0002167	76.77	gold quality
colonic epithelium	UBERON:0000397	76.49	gold quality
spleen	UBERON:0002106	70.67	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	69.11	gold quality
upper lobe of left lung	UBERON:0008952	68.87	gold quality
ganglionic eminence	UBERON:0004023	67.36	gold quality
lung	UBERON:0002048	67.00	gold quality
skeletal muscle tissue	UBERON:0001134	66.26	gold quality
esophagus mucosa	UBERON:0002469	65.70	gold quality
placenta	UBERON:0001987	65.54	gold quality
tonsil	UBERON:0002372	65.15	gold quality
muscle tissue	UBERON:0002385	64.44	gold quality
sural nerve	UBERON:0015488	64.07	silver quality
uterine cervix	UBERON:0000002	63.96	gold quality
mucosa of stomach	UBERON:0001199	63.89	gold quality
vagina	UBERON:0000996	63.82	gold quality
ectocervix	UBERON:0012249	63.44	gold quality
apex of heart	UBERON:0002098	62.51	gold quality
esophagus	UBERON:0001043	61.72	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-CURD-120	yes	126.64
E-MTAB-8911	yes	80.54
E-CURD-85	yes	32.71
E-CURD-122	yes	22.06
E-MTAB-9067	yes	10.97
E-MTAB-7303	no	10.00
E-CURD-10	no	1.15
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

108 targeting MPIG6B, 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-MIR-6129	100.00	66.46	2080
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-6793-5P	99.97	65.95	758
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-3151-5P	99.86	63.83	1069
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-12130	99.75	65.47	452
HSA-MIR-4428	99.73	66.41	1733

Literature-anchored findings (GeneRIF, showing 10)

• Heparin might modulate the interaction of G6b with its as yet unidentified protein ligand (PMID:15848171)
• G6B represents a novel inhibitory receptor found on the surface of platelets (PMID:17311996)
• G6b-B expression is highly restricted to peripheral CD4+ T cells and up-regulated by the IL-4-induced STAT6 pathway, suggesting that G6b-B is involved in regulation of the immune response by CD4+ T cell-mediated and IL-4 induced regulatory mechanisms. (PMID:17678728)
• G6b-B inhibits constitutive and agonist-induced signaling by glycoprotein VI and CLEC-2. (PMID:18955485)
• G6B seems to act through an autosomal recessive mode of disease transmission in this family and regarded as the gene responsible for the observed hematological disorder. (PMID:27743390)
• Autosomal recessive loss-of-function mutations in G6b-B (MPIG6B) cause congenital macrothrombocytopenia with focal myelofibrosis. G6b-B has orthologous physiological functions in human and mice regulating megakaryocyte and platelet production and function. (PMID:29898956)
• Case report of a novel MPIG6B gene mutation in a Chinese boy with pancytopenia and splenomegaly. (PMID:31276734)
• Using platelets from humans and genetically modified mice, we demonstrate that binding of G6b-B to heparan sulfate and multivalent heparin inhibits platelet and megakaryocyte function by inducing downstream signaling via the tyrosine phosphatases Shp1 and Shp2. (PMID:31436532)
• Single-Cell Analyses Reveal Megakaryocyte-Biased Hematopoiesis in Myelofibrosis and Identify Mutant Clone-Specific Targets. (PMID:32386542)
• Detrimental variants in MPIG6B in two children with myelofibrosis: Does immune dysregulation contribute to myelofibrosis? (PMID:33871931)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Mpig6b	ENSMUSG00000073414
rattus_norvegicus	Mpig6b	ENSRNOG00000026936

Protein

Protein identifiers

Megakaryocyte and platelet inhibitory receptor G6b — O95866 (reviewed: O95866)

Alternative names: Protein G6b

All UniProt accessions (4): O95866, B0V023, B7ZLJ5, F8WDG3

UniProt curated annotations — full annotation on UniProt →

Function. Inhibitory receptor that acts as a critical regulator of hematopoietic lineage differentiation, megakaryocyte function and platelet production. Inhibits platelet aggregation and activation by agonists such as ADP and collagen-related peptide. This regulation of megakaryocate function as well as platelet production ann activation is done through the inhibition (via the 2 ITIM motifs) of the receptors CLEC1B and GP6:FcRgamma signaling. Appears to operate in a calcium-independent manner. Isoform B, displayed in this entry, is the only isoform to contain both a transmembrane region and 2 immunoreceptor tyrosine-based inhibitor motifs (ITIMs) and, thus, the only one which probably has a role of inhibitory receptor. Isoform A may be the activating counterpart of isoform B.

Subunit / interactions. Interacts (via ITIM motif) with PTPN6 and PTPN11. Binds to heparin.

Subcellular location. Endoplasmic reticulum. Golgi apparatus Endoplasmic reticulum. Golgi apparatus Cell membrane Cell membrane.

Tissue specificity. Expressed in platelets. Expressed in a restricted set of hematopoietic cell lines including the erythroleukemia cell line K-562 and the T-cell leukemia cell lines MOLT-4 and Jurkat. Not detected in the monocyte-like cell line U-937, the B-cell-like cell line Raji, the fibroblast cell lines TK and HeLa, or the natural killer cell lines NKL, NK 62 and YT.

Post-translational modifications. All isoforms are N-glycosylated. Isoform E is O-glycosylated. Phosphorylated.

Disease relevance. Thrombocytopenia, anemia, and myelofibrosis (THAMY) [MIM:617441] An autosomal recessive disorder characterized by thrombocytopenia, increased number of giant platelets, and anemia manifesting in early childhood. Bone marrow biopsy shows increased number of megakaryocytes and reticular fibrosis consistent with myelofibrosis. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. Isoform B, displayed in this entry, is the only one of the isoforms to contain both a transmembrane region and 2 copies of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif can bind the SH2 domain of several SH2-containing phosphatases. The 2 ITIM motifs of isoform B are required for the inhibition of CLEC1B and GP6:FCER1G signaling and platelet activation.

Isoforms (7)

UniProt ID	Names	Canonical?
O95866-1	B	yes
O95866-2	A
O95866-3	C
O95866-4	D
O95866-5	E
O95866-6	F
O95866-7	G

RefSeq proteins (6): NP_079536, NP_612116, NP_612117, NP_612118, NP_612119, NP_612121 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028070	G6B	Family
IPR048308	G6B_V-set	Domain

Pfam: PF15096

UniProt features (30 total): strand 7, splice variant 6, mutagenesis site 4, sequence variant 2, topological domain 2, short sequence motif 2, signal peptide 1, chain 1, sequence conflict 1, turn 1, transmembrane region 1, modified residue 1, glycosylation site 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
6R0X	X-RAY DIFFRACTION	3.13

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95866-F1	73.01	0.38

Antibody-complex structures (SAbDab): 1 — 6R0X

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 211

Glycosylation sites (1): 32

Mutagenesis-validated functional residues (4):

Position	Phenotype
211	abolishes the inhibitory effect against ligand-induced activation of plcg2 by clec1b and gp6:fcer1g; when associated wit
211	loss of tyrosine phosphorylation and loss of interaction with ptpn6 and ptpn11.
237	abolishes the inhibitory effect against ligand-induced activation of plcg2 by clec1b and gp6:fcer1g; when associated wit
237	reduced level of tyrosine phosphorylation and interaction with ptpn6 and ptpn11.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-114604	GPVI-mediated activation cascade

MSigDB gene sets: 116 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_MYELOID_CELL_HOMEOSTASIS, GOBP_MYELOID_CELL_DEVELOPMENT, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, GOBP_ERYTHROCYTE_HOMEOSTASIS, GOBP_WOUND_HEALING, GOBP_PLATELET_MORPHOGENESIS, GOBP_MEGAKARYOCYTE_DEVELOPMENT, GOMF_GLYCOSAMINOGLYCAN_BINDING, GOBP_MEGAKARYOCYTE_DIFFERENTIATION, GOBP_MULTICELLULAR_ORGANISMAL_LEVEL_HOMEOSTASIS, GOBP_HEMOSTASIS, GOMF_HEPARIN_BINDING, GOBP_INTEGRIN_MEDIATED_SIGNALING_PATHWAY, GOBP_REGULATION_OF_BODY_FLUID_LEVELS

GO Biological Process (7): integrin-mediated signaling pathway (GO:0007229), blood coagulation (GO:0007596), negative regulation of signal transduction (GO:0009968), erythrocyte differentiation (GO:0030218), megakaryocyte differentiation (GO:0030219), platelet formation (GO:0030220), megakaryocyte development (GO:0035855)

GO Molecular Function (2): heparin binding (GO:0008201), protein binding (GO:0005515)

GO Cellular Component (6): nucleoplasm (GO:0005654), endoplasmic reticulum (GO:0005783), Golgi apparatus (GO:0005794), cytosol (GO:0005829), plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Platelet activation, signaling and aggregation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
myeloid cell differentiation	3
cellular anatomical structure	3
cytoplasm	3
endomembrane system	2
intracellular membrane-bounded organelle	2
cell surface receptor signaling pathway	1
hemostasis	1
wound healing	1
coagulation	1
signal transduction	1
regulation of signal transduction	1
negative regulation of cell communication	1
negative regulation of signaling	1
negative regulation of response to stimulus	1
erythrocyte homeostasis	1
platelet morphogenesis	1
anatomical structure formation involved in morphogenesis	1
megakaryocyte differentiation	1
myeloid cell development	1
glycosaminoglycan binding	1
sulfur compound binding	1
binding	1
nuclear lumen	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

342 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MPIG6B	PTPN11	Q06124	923
MPIG6B	GP6	Q9HCN6	671
MPIG6B	LY6G6F	Q5SQ64	620
MPIG6B	DDAH2	O95865	606
MPIG6B	LY6G6C	O95867	581
MPIG6B	LAIR1	Q6GTX8	541
MPIG6B	TREML1	Q86YW5	540
MPIG6B	A0A0B4J1T7	A0A0B4J1T7	527
MPIG6B	CLEC1B	Q9P126	506
MPIG6B	LY6G6D	O95868	478
MPIG6B	AGER	Q15109	460
MPIG6B	IGFBP7	Q16270	434
MPIG6B	PTPRJ	Q12913	411
MPIG6B	LY6G5B	Q8NDX9	396
MPIG6B	FCER1G	P30273	379
MPIG6B	DDR1	Q08345	379

IntAct

16 interactions, top by confidence:

A	B	Type	Score
MPIG6B	BOC	psi-mi:“MI:0915”(physical association)	0.400
IGFBP7	MPIG6B	psi-mi:“MI:0915”(physical association)	0.400
IL1RL1	MPIG6B	psi-mi:“MI:0915”(physical association)	0.400
MPIG6B	NRG2	psi-mi:“MI:0915”(physical association)	0.400
MPIG6B	OSCAR	psi-mi:“MI:0915”(physical association)	0.400
AGER	MPIG6B	psi-mi:“MI:0915”(physical association)	0.400
ROBO1	MPIG6B	psi-mi:“MI:0915”(physical association)	0.400
TNFRSF21	MPIG6B	psi-mi:“MI:0915”(physical association)	0.400
UNC5A	MPIG6B	psi-mi:“MI:0915”(physical association)	0.400
MPIG6B	UNC5D	psi-mi:“MI:0915”(physical association)	0.400
HAPLN1	MPIG6B	psi-mi:“MI:0915”(physical association)	0.400
MPIG6B	MXRA5	psi-mi:“MI:0915”(physical association)	0.400
ABL2	MPIG6B	psi-mi:“MI:0914”(association)	0.350
PTPN6	MPIG6B	psi-mi:“MI:0914”(association)	0.350
PTPN11	MPIG6B	psi-mi:“MI:0914”(association)	0.350

BioGRID (2): PTPN6 (Affinity Capture-Western), PTPN11 (Affinity Capture-Western)

ESM2 similar proteins: A0A140LHF2, A0EQL2, D3YZF7, D7PDD4, O15533, O55237, O70394, O70540, O95866, P04278, P05111, P07994, P08689, P0C6B3, P0DP72, P15196, P17490, P18627, P40238, P55101, P60882, P97497, Q00657, Q08351, Q14393, Q14773, Q16671, Q3SWY4, Q5BK54, Q5NKT8, Q5TJE4, Q61790, Q61826, Q62588, Q6PZD2, Q6UVK1, Q6UWB1, Q7Z7M0, Q7Z7M1, Q86VR7

Diamond homologs: D7PDD4, O95866, Q6MG59

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

43 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	5
Uncertain significance	16
Likely benign	8
Benign	3

Top pathogenic / likely-pathogenic (9)

Variant ID	HGVS	Classification
1704740	NM_138272.3(MPIG6B):c.30del (p.Leu11fs)	Pathogenic
3251400	NM_138272.3(MPIG6B):c.489G>A (p.Trp163Ter)	Pathogenic
417972	NM_138272.3(MPIG6B):c.324C>A (p.Cys108Ter)	Pathogenic
643352	NM_138272.3(MPIG6B):c.80del (p.Pro27fs)	Pathogenic
1684426	NM_138272.3(MPIG6B):c.337G>T (p.Glu113Ter)	Likely pathogenic
1705533	NM_138272.3(MPIG6B):c.558C>T (p.Thr186=)	Likely pathogenic
2627094	NM_138272.3(MPIG6B):c.332del (p.Arg111fs)	Likely pathogenic
3065571	NM_138272.3(MPIG6B):c.346_347del (p.Ser116fs)	Likely pathogenic
993022	NM_138272.3(MPIG6B):c.149dup (p.Ala52fs)	Likely pathogenic

SpliceAI

673 predictions. Top by Δscore:

Variant	Effect	Δscore
6:31719310:CCT:C	acceptor_loss	1.0000
6:31719306:CTTAC:C	acceptor_gain	0.9900
6:31719312:T:A	acceptor_loss	0.9900
6:31720200:TCAG:T	acceptor_gain	0.9900
6:31720201:CAG:C	acceptor_gain	0.9900
6:31720201:CAGC:C	acceptor_gain	0.9900
6:31720204:C:CC	acceptor_gain	0.9900
6:31719283:C:CT	acceptor_gain	0.9800
6:31719307:TTAC:T	acceptor_gain	0.9800
6:31720202:A:T	acceptor_gain	0.9800
6:31720360:A:C	acceptor_gain	0.9800
6:31719285:C:CT	acceptor_gain	0.9700
6:31719308:TAC:T	acceptor_gain	0.9700
6:31719311:C:CC	acceptor_gain	0.9700
6:31719317:G:C	acceptor_gain	0.9700
6:31720087:TGTTA:T	donor_loss	0.9700
6:31720088:GTTA:G	donor_loss	0.9700
6:31720089:TTA:T	donor_loss	0.9700
6:31720090:TA:T	donor_loss	0.9700
6:31720091:ACC:A	donor_loss	0.9700
6:31720092:C:G	donor_loss	0.9700
6:31720199:GTCAG:G	acceptor_gain	0.9700
6:31720201:CAGCT:C	acceptor_loss	0.9700
6:31720204:CTG:C	acceptor_loss	0.9700
6:31720205:T:C	acceptor_loss	0.9700
6:31720086:ATGTT:A	donor_loss	0.9600
6:31720176:T:C	acceptor_gain	0.9600
6:31720333:GTCT:G	acceptor_gain	0.9600
6:31720702:T:TA	donor_gain	0.9600
6:31719278:C:CT	acceptor_gain	0.9500

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000182864 (6:31725154 C>G), RS1001126146 (6:31722750 G>A), RS1001157311 (6:31723065 C>T), RS1001185679 (6:31720088 G>A), RS1001215235 (6:31719657 C>T), RS1002403152 (6:31725473 G>A,T), RS1002779734 (6:31726022 T>C), RS1002799794 (6:31720944 T>C), RS1002830985 (6:31721229 C>T), RS1003265724 (6:31722061 G>A), RS1004559033 (6:31722240 A>T), RS1004934858 (6:31719283 C>A,T), RS1005171854 (6:31723107 T>C), RS1005265539 (6:31723407 A>G), RS1005690541 (6:31725347 G>C,T)

Disease associations

OMIM: gene MIM:606520 | disease phenotypes: MIM:617441, MIM:601977

GenCC curated gene-disease

Disease	Classification	Inheritance
thrombocytopenia, anemia, and myelofibrosis	Definitive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
thrombocytopenia, anemia, and myelofibrosis	Definitive	AR

Mondo (3): thrombocytopenia, anemia, and myelofibrosis (MONDO:0044316), thrombocythemia 2 (MONDO:0011173), thrombocytopenia (MONDO:0002049)

Orphanet (0):

HPO phenotypes

7 total (7 of 7 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0001744	Splenomegaly
HP:0001873	Thrombocytopenia
HP:0001903	Anemia
HP:0004823	Anisopoikilocytosis
HP:0011463	Childhood onset
HP:0011974	Myelofibrosis

GWAS associations

27 associations (top):

Study	Trait	p-value
GCST004131_25	Inflammatory bowel disease	2.000000e-31
GCST004133_79	Ulcerative colitis	5.000000e-65
GCST004521_114	Autism spectrum disorder or schizophrenia	3.000000e-17
GCST004521_117	Autism spectrum disorder or schizophrenia	3.000000e-15
GCST004521_126	Autism spectrum disorder or schizophrenia	2.000000e-10
GCST004521_154	Autism spectrum disorder or schizophrenia	3.000000e-08
GCST004521_17	Autism spectrum disorder or schizophrenia	2.000000e-12
GCST004521_209	Autism spectrum disorder or schizophrenia	5.000000e-16
GCST004521_211	Autism spectrum disorder or schizophrenia	5.000000e-15
GCST004521_213	Autism spectrum disorder or schizophrenia	5.000000e-13
GCST004521_224	Autism spectrum disorder or schizophrenia	5.000000e-10
GCST004521_227	Autism spectrum disorder or schizophrenia	4.000000e-12
GCST004521_265	Autism spectrum disorder or schizophrenia	7.000000e-14
GCST004521_281	Autism spectrum disorder or schizophrenia	5.000000e-09
GCST004521_296	Autism spectrum disorder or schizophrenia	6.000000e-18
GCST004521_45	Autism spectrum disorder or schizophrenia	2.000000e-16
GCST004521_70	Autism spectrum disorder or schizophrenia	8.000000e-20
GCST004521_81	Autism spectrum disorder or schizophrenia	1.000000e-14
GCST008916_111	Asthma	2.000000e-14
GCST008916_114	Asthma	1.000000e-09
GCST008916_30	Asthma	1.000000e-09
GCST008917_2	Asthma (childhood onset)	4.000000e-07
GCST008921_1	Asthma and major depressive disorder	2.000000e-16
GCST009685_17	Hypertension	3.000000e-12
GCST010725_43	Malaria	5.000000e-07
GCST010725_62	Malaria	3.000000e-06
GCST90002395_441	Mean platelet volume	6.000000e-27

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D013921	Thrombocytopenia	C15.378.140.855; C15.378.243.937

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

14 total (human), top 14 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Silicon Dioxide	increases expression	2
aristolochic acid I	increases expression	1
GSK-J4	decreases expression	1
bisphenol F	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
licochalcone B	increases expression	1
jinfukang	affects cotreatment, decreases expression	1
Benzo(a)pyrene	affects methylation	1
Cisplatin	decreases expression, affects cotreatment	1
Dexamethasone	affects cotreatment, increases expression	1
Fluorouracil	affects response to substance	1
Indomethacin	affects cotreatment, increases expression	1
Triclosan	increases methylation	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

240 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
NCT01805648	PHASE3	UNKNOWN	Efficacy and Safety Study of Maintenance Treatment With rhTPO in Thrombocytopenic Subjects With ITP
NCT02244658	PHASE3	UNKNOWN	Recombinant Human Thrombopoietin (rhTPO) in Management of Chemotherapy-induced Thrombocytopenia in Acute Myelocytic Leukemia
NCT02389621	PHASE3	COMPLETED	Safety and Efficacy Study of Lusutrombopag for Thrombocytopenia in Patients With Chronic Liver Disease Undergoing Elective Invasive Procedures
NCT02444728	PHASE3	TERMINATED	Cyclophosphamide and Hydroxychloroquine for Thrombocytopenia in SLE
NCT02487563	PHASE3	COMPLETED	Prospective Study of Patients With Thrombocytopenia Following HSCT
NCT02578901	PHASE3	COMPLETED	American Trial Using Tranexamic Acid in Thrombocytopenia
NCT03326843	PHASE3	TERMINATED	Avatrombopag for the Treatment of Thrombocytopenia in Adults Scheduled for a Surgical Procedure
NCT03515096	PHASE3	COMPLETED	Eltrombopag vs. rhTPO to Increase Platelet Level After HSCT
NCT05563064	PHASE3	UNKNOWN	Effect of Herbal Formulation on Thrombocytes Count
NCT07442513	PHASE3	RECRUITING	Comparison of Etamsylate Versus Placebo to Prevent Bleeding in HSCT