Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54894
Gene name Gene Name - the full gene name approved by the HGNC.
Ring finger protein 43
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RNF43
Synonyms (NCBI Gene) Gene synonyms aliases
RNF124, SSPCS, URCC
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q22
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a RING-type E3 ubiquitin ligase and is predicted to contain a transmembrane domain, a protease-associated domain, an ectodomain, and a cytoplasmic RING domain. This protein is thought to negatively regulate Wnt signalin
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs786205215 G>A Pathogenic Coding sequence variant, stop gained
rs1567880628 G>A Pathogenic 5 prime UTR variant, coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019206 hsa-miR-335-5p Microarray 18185580
MIRT1313266 hsa-miR-1184 CLIP-seq
MIRT1313267 hsa-miR-1205 CLIP-seq
MIRT1313268 hsa-miR-1224-3p CLIP-seq
MIRT1313269 hsa-miR-1231 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004842 Function Ubiquitin-protein transferase activity IDA 22575959, 22895187
GO:0005109 Function Frizzled binding IBA
GO:0005109 Function Frizzled binding IEA
GO:0005109 Function Frizzled binding IPI 22895187
GO:0005515 Function Protein binding IPI 18313049, 19690564, 29769720, 33961781
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612482 18505 ENSG00000108375
Protein
UniProt ID Q68DV7
Protein name E3 ubiquitin-protein ligase RNF43 (EC 2.3.2.27) (RING finger protein 43) (RING-type E3 ubiquitin transferase RNF43)
Protein function E3 ubiquitin-protein ligase that acts as a negative regulator of the Wnt signaling pathway by mediating the ubiquitination, endocytosis and subsequent degradation of Wnt receptor complex components Frizzled. Acts on both canonical and non-canoni
PDB 4KNG , 8WVU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18212 ZNRF_3_ecto 85 189 ZNRF-3 Ectodomain Domain
PF13639 zf-RING_2 270 313 Ring finger domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in fetal kidney, fetal lung, in colon cancer tissues, hepatocellular carcinomas and lung adenocarcinomas. Overexpressed in colorectal cancer cell lines. {ECO:0000269|PubMed:15492824, ECO:0000269|PubMed:18313049}.
Sequence
MSGGHQLQLAALWPWLLMATLQAGFGRTGLVLAAAVESERSAEQKAIIRVIPLKMDPTGK
LNLTLEGVFAGVAEITPAEGKLMQSHPLYLCNASDDDNLEPGFISIVKLESPRRAPRPCL
SLASKARMAGERGASAVLFDITEDRAAAEQLQQPLGLTWPVVLIWGNDAEKLMEFVYKNQ
KAHVRIELK
EPPAWPDYDVWILMTVVGTIFVIILASVLRIRCRPRHSRPDPLQQRTAWAI
SQLATRRYQASCRQARGEWPDSGSSCSSAPVCAICLEEFSEGQELRVISCLHEFHRNCVD
PWLHQHRTCPLCM
FNITEGDSFSQSLGPSRSYQEPGRRLHLIRQHPGHAHYHLPAAYLLG
PSRSAVARPPRPGPFLPSQEPGMGPRHHRFPRAAHPRAPGEQQRLAGAQHPYAQGWGLSH
LQSTSQHPAACPVPLRRARPPDSSGSGESYCTERSGYLADGPASDSSSGPCHGSSSDSVV
NCTDISLQGVHGSSSTFCSSLSSDFDPLVYCSPKGDPQRVDMQPSVTSRPRSLDSVVPTG
ETQVSSHVHYHRHRHHHYKKRFQWHGRKPGPETGVPQSRPPIPRTQPQPEPPSPDQQVTR
SNSAAPSGRLSNPQCPRALPEPAPGPVDASSICPSTSSLFNLQKSSLSARHPQRKRRGGP
SEPTPGSRPQDATVHPACQIFPHYTPSVAYPWSPEAHPLICGPPGLDKRLLPETPGPCYS
NSQPVWLCLTPRQPLEPHPPGEGPSEWSSDTAEGRPCPYPHCQVLSAQPGSEEELEELCE
QAV
Sequence length 783
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Wnt signaling pathway   Regulation of FZD by ubiquitination
RNF mutants show enhanced WNT signaling and proliferation
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Sessile Serrated Polyposis Cancer Syndrome sessile serrated polyposis cancer syndrome rs786205215 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hyperplastic Polyposis Syndrome hyperplastic polyposis syndrome N/A N/A GenCC
Hypertension Hypertension N/A N/A GWAS
Iron deficiency anemia Iron deficiency anemia N/A N/A GWAS
Prostate cancer Prostate cancer N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Mucinous Associate 31231124, 32641744
Adenoma Associate 24512911, 32092099, 33098683
Adenomatous Polyposis Coli Associate 25344691, 39519399
Adenomatous Polyposis Coli Stimulate 33230914
Anodontia Associate 35254413
Arthritis Rheumatoid Associate 31905737
Breast Neoplasms Associate 37848933
Calcinosis Cutis Associate 36811382
Carcinogenesis Associate 21108931, 25825523, 26240024, 27661107, 35040131
Carcinoma Hepatocellular Associate 26823834, 40264052