RTN4IP1 (reticulon 4 interacting protein 1)

2013-05-01  

Identity

HGNC
RTN4IP1
LOCATION
6q21
LOCUSID
84816
ALIAS
NIMP,OPA10
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84816
MIM: 610502
HGNC: 18647
Ensembl: ENSG00000130347

Variants:

dbSNP: 84816
ClinVar: 84816
TCGA: ENSG00000130347
COSMIC: RTN4IP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130347ENST00000369063Q8WWV3
ENSG00000130347ENST00000539449G3V1R2

Expression (GTEx)

0
5
10
15
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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
265932672015Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.11
233931702013RTN4IP1 is down-regulated in thyroid cancer and has tumor-suppressive function.6
291815102018Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.1

Citation

Dessen P

RTN4IP1 (reticulon 4 interacting protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2013-05-01

Online version: http://atlasgeneticsoncology.org/gene/53304/rtn4ip1