MEGF8 (multiple EGF like domains 8)

2010-10-01  

Identity

HGNC
MEGF8
LOCATION
19q13.2
LOCUSID
1954
ALIAS
C19orf49,CRPT2,EGFL4,SBP1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1954
MIM: 604267
HGNC: 3233
Ensembl: ENSG00000105429

Variants:

dbSNP: 1954
ClinVar: 1954
TCGA: ENSG00000105429
COSMIC: MEGF8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000105429ENST00000251268Q7Z7M0
ENSG00000105429ENST00000334370Q7Z7M0
ENSG00000105429ENST00000378073F5GZG7
ENSG00000105429ENST00000593647M0QZL2
ENSG00000105429ENST00000598762M0R0Q0

Expression (GTEx)

0
10
20
30
40
50
60
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
230636202012Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.20

Citation

Dessen P

MEGF8 (multiple EGF like domains 8)

Atlas Genet Cytogenet Oncol Haematol. 2010-10-01

Online version: http://atlasgeneticsoncology.org/gene/51685/megf8