RNF43 (ring finger protein 43)

2003-05-01  

Identity

HGNC
LOCATION
17q22
LOCUSID
ALIAS
RNF124,SSPCS,URCC
FUSION GENES

Other Information

Locus ID:

NCBI: 54894
MIM: 612482
HGNC: 18505
Ensembl: ENSG00000285897

Variants:

dbSNP: 54894
ClinVar: 54894
TCGA: ENSG00000285897
COSMIC: RNF43

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000285897ENST00000648873A0A3B3ITA1

Pathways

PathwaySourceExternal ID
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Signaling by WNT in cancerREACTOMER-HSA-4791275
RNF mutants show enhanced WNT signaling and proliferationREACTOMER-HSA-5340588
Signal TransductionREACTOMER-HSA-162582
Signaling by WntREACTOMER-HSA-195721
TCF dependent signaling in response to WNTREACTOMER-HSA-201681
Regulation of FZD by ubiquitinationREACTOMER-HSA-4641263

References

Pubmed IDYearTitleCitations
228951872012Tumour suppressor RNF43 is a stem-cell E3 ligase that induces endocytosis of Wnt receptors.234
253446912014RNF43 is frequently mutated in colorectal and endometrial cancers.131
238472032013Inactivating mutations of RNF43 confer Wnt dependency in pancreatic ductal adenocarcinoma.105
258910772015Dishevelled promotes Wnt receptor degradation through recruitment of ZNRF3/RNF43 E3 ubiquitin ligases.46
242257762013Structural and molecular basis of ZNRF3/RNF43 transmembrane ubiquitin ligase inhibition by the Wnt agonist R-spondin.41
230964612013RNF43 is a tumour suppressor gene mutated in mucinous tumours of the ovary.39
273292442017RNF43 germline and somatic mutation in serrated neoplasia pathway and its association with BRAF mutation.30
276611072016RNF43 and ZNRF3 are commonly altered in serrated pathway colorectal tumorigenesis.27
263509002015The E3 ligase RNF43 inhibits Wnt signaling downstream of mutated β-catenin by sequestering TCF4 to the nuclear membrane.25
297697202018RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.24

Citation

Dessen P

RNF43 (ring finger protein 43)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40600/rnf43-(ring-finger-protein-43)