MPIG6B (megakaryocyte and platelet inhibitory receptor G6b)

2017-09-01 Affiliation

Identity

HGNC

MPIG6B

LOCATION

6p21.33

LOCUSID

80739

ALIAS

C6orf25,G6b,G6b-B,NG31,THAMY

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000204420	ENST00000375804	O95866
ENSG00000204420	ENST00000375805	O95866
ENSG00000204420	ENST00000375809	O95866
ENSG00000204420	ENST00000375809	B0V023
ENSG00000204420	ENST00000375810	O95866
ENSG00000204420	ENST00000375814	O95866
ENSG00000204420	ENST00000480039	B7ZLJ5
ENSG00000204420	ENST00000485548	F8WDG3
ENSG00000204420	ENST00000649779	O95866

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Hemostasis	REACTOME	R-HSA-109582
Platelet activation, signaling and aggregation	REACTOME	R-HSA-76002
GPVI-mediated activation cascade	REACTOME	R-HSA-114604

References

Pubmed ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
19851445	2009	High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.	51
17311996	2007	The novel inhibitory receptor G6B is expressed on the surface of platelets and attenuates platelet function in vitro.	25
18955485	2008	G6b-B inhibits constitutive and agonist-induced signaling by glycoprotein VI and CLEC-2.	21
19143814	2009	Several loci in the HLA class III region are associated with T1D risk after adjusting for DRB1-DQB1.	17
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	11
29898956	2018	Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice.	8
27743390	2017	Novel G6B gene variant causes familial autosomal recessive thrombocytopenia and anemia.	7
15848171	2005	The cell surface receptor G6b, a member of the immunoglobulin superfamily, binds heparin.	6
17678728	2007	G6b-B cell surface inhibitory receptor expression is highly restricted to CD4+ T-cells and induced by interleukin-4-activated STAT6 pathway.	0

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