ERGIC1 (endoplasmic reticulum-golgi intermediate compartment 1)

2013-01-01  

Identity

HGNC
ERGIC1
LOCATION
5q35.1
LOCUSID
57222
ALIAS
AMC2,AMCN,ERGIC-32,ERGIC32,NET24
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57222
MIM: 617946
HGNC: 29205
Ensembl: ENSG00000113719

Variants:

dbSNP: 57222
ClinVar: 57222
TCGA: ENSG00000113719
COSMIC: ERGIC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000113719ENST00000326654Q969X5
ENSG00000113719ENST00000393784Q969X5
ENSG00000113719ENST00000518247F2Z3Q5
ENSG00000113719ENST00000519796H0YAV2
ENSG00000113719ENST00000519860A0A1B0GTQ3
ENSG00000113719ENST00000520642F2Z2P5
ENSG00000113719ENST00000523291F2Z2U2

Expression (GTEx)

0
50
100
150
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
340372562021Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis.1
340372562021Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis.1
283170992018Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type.5
295499242018Differential Expression and Significance of Endoplasmic Reticulum Golgi Intermediate Compartment 1 in Precancerous Gastric Lesions and Gastric Cancer.2
283170992018Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type.5
295499242018Differential Expression and Significance of Endoplasmic Reticulum Golgi Intermediate Compartment 1 in Precancerous Gastric Lesions and Gastric Cancer.2
289707272017Aberrant DNA-PKcs and ERGIC1 expression may be involved in initiation of gastric cancer.4
289707272017Aberrant DNA-PKcs and ERGIC1 expression may be involved in initiation of gastric cancer.4
227619062012High-throughput transcriptomic and RNAi analysis identifies AIM1, ERGIC1, TMED3 and TPX2 as potential drug targets in prostate cancer.40
227619062012High-throughput transcriptomic and RNAi analysis identifies AIM1, ERGIC1, TMED3 and TPX2 as potential drug targets in prostate cancer.40
198512962010Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.7
201983152010Association of genetic variants with hemorrhagic stroke in Japanese individuals.17
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
198512962010Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.7
201983152010Association of genetic variants with hemorrhagic stroke in Japanese individuals.17

Citation

Dessen P

ERGIC1 (endoplasmic reticulum-golgi intermediate compartment 1)

Atlas Genet Cytogenet Oncol Haematol. 2013-01-01

Online version: http://atlasgeneticsoncology.org/gene/53137/css/css/css/js/template.js