EMC8 (ER membrane protein complex subunit 8)

2014-11-01  

Identity

HGNC
EMC8
LOCATION
16q24.1
LOCUSID
10328
ALIAS
C16orf2,C16orf4,COX4NB,FAM158B,NOC4

Other Information

Locus ID:

NCBI: 10328
MIM: 604886
HGNC: 7864
Ensembl: ENSG00000131148

Variants:

dbSNP: 10328
ClinVar: 10328
TCGA: ENSG00000131148
COSMIC: EMC8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000131148ENST00000253457O43402
ENSG00000131148ENST00000253457Q53Y03
ENSG00000131148ENST00000435200O43402
ENSG00000131148ENST00000595980M0R1B0

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
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
198512962010Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.7
201983152010Association of genetic variants with hemorrhagic stroke in Japanese individuals.17
208197782010MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer.26
198512962010Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.7
201983152010Association of genetic variants with hemorrhagic stroke in Japanese individuals.17
208197782010MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer.26
197248952009Association of gene polymorphisms with chronic kidney disease in Japanese individuals.0
197248952009Association of gene polymorphisms with chronic kidney disease in Japanese individuals.0

Citation

Dessen P

EMC8 (ER membrane protein complex subunit 8)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62816