ERMARD (ER membrane associated RNA degradation)

2014-11-01  

Identity

HGNC
ERMARD
LOCATION
6q27
LOCUSID
55780
ALIAS
C6orf70,PVNH6,dJ266L20.3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55780
MIM: 615532
HGNC: 21056
Ensembl: ENSG00000130023

Variants:

dbSNP: 55780
ClinVar: 55780
TCGA: ENSG00000130023
COSMIC: ERMARD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130023ENST00000366772Q5T6L9
ENSG00000130023ENST00000366773Q5T6L9
ENSG00000130023ENST00000392095Q5T6L9
ENSG00000130023ENST00000418781Q5T6L9
ENSG00000130023ENST00000586341K7ER62
ENSG00000130023ENST00000588451K7ERF7
ENSG00000130023ENST00000590017K7EM31
ENSG00000130023ENST00000590711K7EME8
ENSG00000130023ENST00000592315K7EPX8
ENSG00000130023ENST00000592367K7ESI0
ENSG00000130023ENST00000592745K7EMW5

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
240565352013Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.40
240565352013Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.40

Citation

Dessen P

ERMARD (ER membrane associated RNA degradation)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62896/ermard-(er-membrane-associated-rna-degradation)