RNF216 (ring finger protein 216)

2012-11-01  

Identity

HGNC
RNF216
LOCATION
7p22.1
LOCUSID
54476
ALIAS
CAHH,TRIAD3,U7I1,UBCE7IP1,ZIN
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54476
MIM: 609948
HGNC: 21698
Ensembl: ENSG00000011275

Variants:

dbSNP: 54476
ClinVar: 54476
TCGA: ENSG00000011275
COSMIC: RNF216

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000011275ENST00000389900F8W6D1
ENSG00000011275ENST00000389902Q9NWF9
ENSG00000011275ENST00000411812F8WDI8
ENSG00000011275ENST00000416985C9JIV3
ENSG00000011275ENST00000425013Q9NWF9

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

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
RIG-I/MDA5 mediated induction of IFN-alpha/beta pathwaysREACTOMER-HSA-168928
Negative regulators of RIG-I/MDA5 signalingREACTOMER-HSA-936440

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
380500712024Clinical and genetic spectrum of RNF216-related disorder: a new case and literature review.0
388534692024Ring finger protein 216 loss-of-function induces white matter hyperintensities by inhibiting oligodendroglia proliferation.0
380500712024Clinical and genetic spectrum of RNF216-related disorder: a new case and literature review.0
388534692024Ring finger protein 216 loss-of-function induces white matter hyperintensities by inhibiting oligodendroglia proliferation.0
374391482023RNF216 affects the stability of STAU2 in the hypothalamus.0
374391482023RNF216 affects the stability of STAU2 in the hypothalamus.0
349984532022Structural basis of K63-ubiquitin chain formation by the Gordon-Holmes syndrome RBR E3 ubiquitin ligase RNF216.11
350882402022Whole-Exome Sequencing Identified a Novel Mutation in RNF216 in a Family with Gordon Holmes Syndrome.2
349984532022Structural basis of K63-ubiquitin chain formation by the Gordon-Holmes syndrome RBR E3 ubiquitin ligase RNF216.11
350882402022Whole-Exome Sequencing Identified a Novel Mutation in RNF216 in a Family with Gordon Holmes Syndrome.2
337245542021RNF216 regulates meiosis and PKA stability in the testes.4
342473652021[Screening of interacting proteins of idiopathic gonadotropin-releasing hormone deficiency pathogenic gene RNF216].0
337245542021RNF216 regulates meiosis and PKA stability in the testes.4
342473652021[Screening of interacting proteins of idiopathic gonadotropin-releasing hormone deficiency pathogenic gene RNF216].0
313857132020Toll-like Receptor 8 Stability Is Regulated by Ring Finger 216 in Response to Circulating MicroRNAs.10

Citation

Dessen P

RNF216 (ring finger protein 216)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/53038/gene-fusions-explorer/case-report-explorer/tumors-explorer/