Last update 01 Nov 2024

MPIG6B

Last update 01 Nov 2024

Basic Info

Synonyms

C6orf25, G6b, G6b-B

+ [4]

Introduction

Inhibitory receptor that acts as a critical regulator of hematopoietic lineage differentiation, megakaryocyte function and platelet production (PubMed:12665801, PubMed:17311996, PubMed:27743390). Inhibits platelet aggregation and activation by agonists such as ADP and collagen-related peptide (PubMed:12665801). 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 (PubMed:17311996). Appears to operate in a calcium-independent manner (PubMed:12665801). 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.

Drugs associated with MPIG6B

WO2023036815

Patent Mining

Target

MPIG6B

Mechanism-

Active Org.

Établissement Français du Sang [+1]

Originator Org.

Institut National de la Santé et de la Recherche Médicale [+2]

Active Indication

Embolism and Thrombosis [+1]

Inactive Indication-

Drug Highest PhaseDiscovery

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

100 Clinical Results associated with MPIG6B

100 Translational Medicine associated with MPIG6B

0 Patents (Medical) associated with MPIG6B

Literatures (Medical) associated with MPIG6B

01 Jul 2024·Journal of Extracellular Vesicles

Optimized AF4 combined with density cushion ultracentrifugation enables profiling of high‐purity human blood extracellular vesicles

Article

Author: Dong, Ming ; Hu, Liqiao ; Xu, Tao ; Li, Zonghong ; Zheng, Xinyue ; Wang, Jifeng ; Tong, Lingjun ; Zhou, Maoge

AbstractExtracellular vesicles (EVs) have emerged as a promising tool for clinical liquid biopsy. However, the identification of EVs derived from blood samples is hindered by the presence of abundant plasma proteins, which impairs the downstream biochemical analysis of EV‐associated proteins and nucleic acids. Here, we employed optimized asymmetric flow field‐flow fractionation (AF4) combined with density cushion ultracentrifugation (UC) to obtain high‐purity and intact EVs with very low lipoprotein contamination from human plasma and serum. Further proteomic analysis revealed more than 1000 EV‐associated proteins, a large proportion of which has not been previously reported. Specifically, we found that cell‐line‐derived EV markers are incompatible with the identification of plasma‐EVs and proposed that the proteins MYCT1, TSPAN14, MPIG6B and MYADM, as well as the traditional EV markers CD63 and CD147, are plasma‐EV markers. Benefiting from the high‐purity of EVs, we conducted comprehensive miRNA profiling of plasma EVs and nanosized particles (NPs), as well as compared plasma‐ and serum‐derived EVs, which provides a valuable resource for the EV research community. Overall, our findings provide a comprehensive assessment of human blood EVs as a basis for clinical biopsy applications.

01 Apr 2024·Journal of Assisted Reproduction and Genetics

Genetic profiling of azoospermic men to identify the etiology and predict reproductive potential

Article

Author: Elias, Rony ; Ng, Lily ; Palermo, Gianpiero D ; Cheung, Stephanie ; Schlegel, Peter ; Rosenwaks, Zev ; Kocur, Olena ; Xie, Philip

AbstractPurposeTo identify germline mutations related to azoospermia etiology and reproductive potential of surgically retrieved spermatozoa, and to investigate the feasibility of predicting seminiferous tubule function of nonobstructive azoospermic men by transcriptomic profiling of ejaculates.Materials and methodsSperm specimens were obtained from 30 men (38.4 ± 6 years) undergoing epididymal sperm aspiration for obstructive azoospermia (OA, n = 19) acquired by vasectomy, or testicular biopsy for nonobstructive azoospermia (NOA, n = 11). To evaluate for a correlation with azoospermia etiology, DNAseq was performed on surgically retrieved spermatozoa, and cell-free RNAseq on seminal fluid (n = 23) was performed to predict spermatogenesis in the seminiferous tubule.ResultsOverall, surgically retrieved sperm aneuploidy rates were 1.7% and 1.8% among OA and NOA cohorts, respectively. OA men carried housekeeping-related gene mutations, while NOA men displayed mutations on genes involved in crucial spermiogenic functions (AP1S2, AP1G2, APOE). We categorized couples within each cohort according to ICSI clinical outcomes to investigate genetic causes that may affect reproductive potential. All OA-fertile men (n = 9) carried mutations in ZNF749 (sperm production), whereas OA-infertile men (n = 10) harbored mutations in PRB1, which is essential for DNA replication. NOA-fertile men (n = 8) carried mutations in MPIG6B (stem cell lineage differentiation), whereas NOA-infertile individuals (n = 3) harbored mutations in genes involved in spermato/spermio-genesis (ADAM29, SPATA31E1, MAK, POLG, IFT43, ATG9B) and early embryonic development (MBD5, CCAR1, PMEPA1, POLK, REC8, REPIN1, MAPRE3, ARL4C). Transcriptomic assessment of cell-free RNAs in seminal fluid from NOA men allowed the prediction of residual spermatogenic foci.ConclusionsSperm genome profiling provides invaluable information on azoospermia etiology and identifies gene-related mechanistic links to reproductive performance. Moreover, RNAseq assessment of seminal fluid from NOA men can help predict sperm retrieval during testicular biopsies.

11 Feb 2024·Cureus

A Rare MPIG6B Gene Mutation in a Saudi Adolescent Male With Thrombocytopenia, Anemia, and Myelofibrosis: A Case Report

Author: Alpakra, Mohammed ; Saeed, Sara ; Alasmari, Badriah G ; Elzubair, Lina ; Rayees, Syed ; Aljunaid, Abrar

Thrombocytopenia, anemia, and myelofibrosis (THAMY) is an exceptionally rare autosomal recessive inherited disorder that arises from pathogenic variations in the megakaryocyte platelet inhibitor G6B (MPIG6B) gene. The MPIG6B gene plays a crucial role in regulating platelet homeostasis. The hallmarks of THAMY are macrothrombocytopenia and focal myelofibrosis, accompanied by varying degrees of anemia, leukocytosis, splenomegaly, and a mild to moderate propensity to bleed. In this case report, we present the clinical details of a 13-year-old male who displayed symptoms of anemia and bleeding as a result of thrombocytopenia. Analysis of the peripheral blood smear revealed the presence of macrothrombocytes, while physical examination showed splenomegaly. To delve deeper into the matter, a bone marrow biopsy was conducted, which unequivocally confirmed the existence of focal myelofibrosis. Subsequent genetic analysis validated the homozygous variant c.523C>T in the MPIG6B gene.

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MPIG6B

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