MEGF10 (multiple EGF like domains 10)

2016-10-01  

Identity

HGNC
MEGF10
LOCATION
5q23.2
LOCUSID
84466
ALIAS
EMARDD,SR-F3

Other Information

Locus ID:

NCBI: 84466
MIM: 612453
HGNC: 29634
Ensembl: ENSG00000145794

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000145794ENST00000274473Q96KG7
ENSG00000145794ENST00000418761Q96KG7
ENSG00000145794ENST00000503335Q96KG7
ENSG00000145794ENST00000508365Q96KG7

Expression (GTEx)

0
5
10
15
20
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 IDYearTitleCitations
368493552023[A family with early onset myopathy caused by MEGF10 gene defect and literature review].0
368493552023[A family with early onset myopathy caused by MEGF10 gene defect and literature review].0
335120442021ZNF667-AS1, a positively regulating MEGF10, inhibits the progression of uveal melanoma by modulating cellular aggressiveness.8
348283892021Phenotypic Variability of MEGF10 Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population.3
335120442021ZNF667-AS1, a positively regulating MEGF10, inhibits the progression of uveal melanoma by modulating cellular aggressiveness.8
348283892021Phenotypic Variability of MEGF10 Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population.3
298879192018MEGF10, a Glioma Survival-Associated Molecular Signature, Predicts IDH Mutation Status.6
298879192018MEGF10, a Glioma Survival-Associated Molecular Signature, Predicts IDH Mutation Status.6
278623182017Genome-wide DNA methylation analysis identifies MEGF10 as a novel epigenetically repressed candidate tumor suppressor gene in neuroblastoma.13
285364402017Genetic variants in the transcription regulatory region of MEGF10 are associated with autism in Chinese Han population.4
278623182017Genome-wide DNA methylation analysis identifies MEGF10 as a novel epigenetically repressed candidate tumor suppressor gene in neuroblastoma.13
285364402017Genetic variants in the transcription regulatory region of MEGF10 are associated with autism in Chinese Han population.4
268024382016Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutations.11
268024382016Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutations.11
250441142014Myogenin is a positive regulator of MEGF10 expression in skeletal muscle.10

Citation

Dessen P

MEGF10 (multiple EGF like domains 10)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

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