RNF220 (ring finger protein 220)

2014-11-01  

Identity

HGNC
LOCATION
1p34.1
LOCUSID
ALIAS
C1orf164
FUSION GENES

Other Information

Locus ID:

NCBI: 55182
MIM: 616136
HGNC: 25552
Ensembl: ENSG00000187147

Variants:

dbSNP: 55182
ClinVar: 55182
TCGA: ENSG00000187147
COSMIC: RNF220

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000187147ENST00000335497Q5TDE8
ENSG00000187147ENST00000355387Q5VTB9
ENSG00000187147ENST00000361799Q5VTB9
ENSG00000187147ENST00000372247Q5VTB9
ENSG00000187147ENST00000440132Q5TDE7
ENSG00000187147ENST00000453863H0Y7B1
ENSG00000187147ENST00000488865U3KPZ6

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradationREACTOMER-HSA-983168

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
252666582014The ubiquitin ligase RNF220 enhances canonical Wnt signaling through USP7-mediated deubiquitination of β-catenin.26
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
305003492019A homozygous RNF220 mutation leads to male infertility with small-headed sperm.0

Citation

Dessen P

RNF220 (ring finger protein 220)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72710/rnf220