MEGF10 (multiple EGF like domains 10)

2016-10-01 Affiliation

Identity

HGNC

MEGF10

LOCATION

5q23.2

LOCUSID

84466

ALIAS

EMARDD,SR-F3

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: 84466
MIM: 612453
HGNC: 29634
Ensembl: ENSG00000145794

Variants:

dbSNP: 84466
ClinVar: 84466
TCGA: ENSG00000145794
COSMIC: MEGF10

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000145794	ENST00000274473	Q96KG7
ENSG00000145794	ENST00000418761	Q96KG7
ENSG00000145794	ENST00000503335	Q96KG7
ENSG00000145794	ENST00000508365	Q96KG7

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

References

Pubmed ID	Year	Title	Citations
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
17205124	2006	Cooperation between engulfment receptors: the case of ABCA1 and MEGF10.	42
22101682	2011	Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).	22
22371254	2012	Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.	19
22371254	2012	Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.	19
17498693	2007	The mammalian Ced-1 ortholog MEGF10/KIAA1780 displays a novel adhesion pattern.	17
19721717	2009	Apoptotic engulfment pathway and schizophrenia.	15
17643423	2007	MEGF10 is a mammalian ortholog of CED-1 that interacts with clathrin assembly protein complex 2 medium chain and induces large vacuole formation.	13
20828568	2010	MEGF10 functions as a receptor for the uptake of amyloid-β.	13
19197986	2009	Vascular endothelial growth factor gene polymorphisms are associated with the risk of developing adenomyosis.	9

Citation

Dessen P

MEGF10 (multiple EGF like domains 10)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56460/megf10