RNF170 (ring finger protein 170)

2014-08-01  

Identity

HGNC
RNF170
LOCATION
8p11.21
LOCUSID
81790
ALIAS
ADSA,SNAX1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 81790
MIM: 614649
HGNC: 25358
Ensembl: ENSG00000120925

Variants:

dbSNP: 81790
ClinVar: 81790
TCGA: ENSG00000120925
COSMIC: RNF170

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000120925ENST00000240159Q96K19
ENSG00000120925ENST00000319073Q96K19
ENSG00000120925ENST00000319104Q96K19
ENSG00000120925ENST00000524954E9PNG8
ENSG00000120925ENST00000526349Q96K19
ENSG00000120925ENST00000527424Q96K19
ENSG00000120925ENST00000531440E9PP55
ENSG00000120925ENST00000534961Q96K19

Expression (GTEx)

0
5
10
15
20
25
30
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
216100682011RNF170 protein, an endoplasmic reticulum membrane ubiquitin ligase, mediates inositol 1,4,5-trisphosphate receptor ubiquitination and degradation.38
211154672011A mutation in the RNF170 gene causes autosomal dominant sensory ataxia.12
258828392015A Point Mutation in the Ubiquitin Ligase RNF170 That Causes Autosomal Dominant Sensory Ataxia Destabilizes the Protein and Impairs Inositol 1,4,5-Trisphosphate Receptor-mediated Ca2+ Signaling.9
316363532019Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.1

Citation

Dessen P

RNF170 (ring finger protein 170)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54584/rnf170