MPIG6B (megakaryocyte and platelet inhibitory receptor G6b)

2017-09-01  

Identity

HGNC
LOCATION
6p21.33
LOCUSID
ALIAS
C6orf25,G6b,G6b-B,NG31,THAMY

Other Information

Locus ID:

NCBI: 80739
MIM: 606520
HGNC: 13937
Ensembl: ENSG00000204420

Variants:

dbSNP: 80739
ClinVar: 80739
TCGA: ENSG00000204420
COSMIC: MPIG6B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000204420ENST00000375804O95866
ENSG00000204420ENST00000375805O95866
ENSG00000204420ENST00000375809O95866
ENSG00000204420ENST00000375809B0V023
ENSG00000204420ENST00000375810O95866
ENSG00000204420ENST00000375814O95866
ENSG00000204420ENST00000480039B7ZLJ5
ENSG00000204420ENST00000485548F8WDG3
ENSG00000204420ENST00000649779O95866

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
GPVI-mediated activation cascadeREACTOMER-HSA-114604

References

Pubmed IDYearTitleCitations
338719312021Detrimental variants in MPIG6B in two children with myelofibrosis: Does immune dysregulation contribute to myelofibrosis?4
338719312021Detrimental variants in MPIG6B in two children with myelofibrosis: Does immune dysregulation contribute to myelofibrosis?4
323865422020Single-Cell Analyses Reveal Megakaryocyte-Biased Hematopoiesis in Myelofibrosis and Identify Mutant Clone-Specific Targets.74
323865422020Single-Cell Analyses Reveal Megakaryocyte-Biased Hematopoiesis in Myelofibrosis and Identify Mutant Clone-Specific Targets.74
312767342019Case report of a novel MPIG6B gene mutation in a Chinese boy with pancytopenia and splenomegaly.5
314365322019Heparan sulfates are critical regulators of the inhibitory megakaryocyte-platelet receptor G6b-B.18
312767342019Case report of a novel MPIG6B gene mutation in a Chinese boy with pancytopenia and splenomegaly.5
314365322019Heparan sulfates are critical regulators of the inhibitory megakaryocyte-platelet receptor G6b-B.18
298989562018Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice.18
298989562018Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice.18
277433902017Novel G6B gene variant causes familial autosomal recessive thrombocytopenia and anemia.13
277433902017Novel G6B gene variant causes familial autosomal recessive thrombocytopenia and anemia.13
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
191438142009Several loci in the HLA class III region are associated with T1D risk after adjusting for DRB1-DQB1.20

Citation

Dessen P

MPIG6B (megakaryocyte and platelet inhibitory receptor G6b)

Atlas Genet Cytogenet Oncol Haematol. 2017-09-01

Online version: http://atlasgeneticsoncology.org/gene/78883/mpig6b-(megakaryocyte-and-platelet-inhibitory-receptor-g6b)