Gene Gene information from NCBI Gene database.
Entrez ID 84133
Gene name Zinc and ring finger 3
Gene symbol ZNRF3
Synonyms (NCBI Gene)
BK747E2.3RNF203
Chromosome 22
Chromosome location 22q12.1
miRNA miRNA information provided by mirtarbase database.
456
miRTarBase ID miRNA Experiments Reference
MIRT027017 hsa-miR-103a-3p Sequencing 20371350
MIRT031450 hsa-miR-16-5p Sequencing 20371350
MIRT042789 hsa-miR-339-5p CLASH 23622248
MIRT438327 hsa-miR-146b-5p qRT-PCR 24064622
MIRT438327 hsa-miR-146b-5p qRT-PCR 24064622
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
GO ID Ontology Definition Evidence Reference
GO:0004842 Function Ubiquitin-protein transferase activity IDA 22575959
GO:0005109 Function Frizzled binding IBA
GO:0005109 Function Frizzled binding IEA
GO:0005109 Function Frizzled binding IPI 22575959
GO:0005515 Function Protein binding IPI 22575959, 24165923, 29769720, 31073040, 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612062 18126 ENSG00000183579
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9ULT6
Protein name E3 ubiquitin-protein ligase ZNRF3 (EC 2.3.2.27) (RING finger protein 203) (RING-type E3 ubiquitin transferase ZNRF3) (Zinc/RING finger protein 3)
Protein function E3 ubiquitin-protein ligase that acts as a negative regulator of the Wnt signaling pathway by mediating the ubiquitination and subsequent degradation of Wnt receptor complex components Frizzled and LRP6. Acts on both canonical and non-canonical
PDB 8G4Y , 8XFP , 8XFS , 8XFT , 8Y69
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18212 ZNRF_3_ecto 101 208 ZNRF-3 Ectodomain Domain
PF17123 zf-RING_11 292 320 RING-like zinc finger Domain
Sequence
MRPRSGGRPGATGRRRRRLRRRPRGLRCSRLPPPPPLPLLLGLLLAAAGPGAARAKETAF
VEVVLFESSPSGDYTTYTTGLTGRFSRAGATLSAEGEIVQMHPLGLCNNNDEEDLYEYGW
VGVVKLEQPELDPKPCLTVLGKAKRAVQRGATAVIFDVSENPEAIDQLNQGSEDPLKRPV
VYVKGADAIKLMNIVNKQKVARARIQHR
PPRQPTEYFDMGIFLAFFVVVSLVCLILLVKI
KLKQRRSQNSMNRLAVQALEKMETRKFNSKSKGRREGSCGALDTLSSSSTSDCAICLEKY
IDGEELRVIPCTHRFHRKCV
DPWLLQHHTCPHCRHNIIEQKGNPSAVCVETSNLSRGRQQ
RVTLPVHYPGRVHRTNAIPAYPTRTSMDSHGNPVTLLTMDRHGEQSLYSPQTPAYIRSYP
PLHLDHSLAAHRCGLEHRAYSPAHPFRRPKLSGRSFSKAACFSQYETMYQHYYFQGLSYP
EQEGQSPPSLAPRGPARAFPPSGSGSLLFPTVVHVAPPSHLESGSTSSFSCYHGHRSVCS
GYLADCPGSDSSSSSSSGQCHCSSSDSVVDCTEVSNQGVYGSCSTFRSSLSSDYDPFIYR
SRSPCRASEAGGSGSSGRGPALCFEGSPPPEELPAVHSHGAGRGEPWPGPASPSGDQVST
CSLEMNYSSNSSLEHRGPNSSTSEVGLEASPGAAPDLRRTWKGGHELPSCACCCEPQPSP
AGPSAGAAGSSTLFLGPHLYEGSGPAGGEPQSGSSQGLYGLHPDHLPRTDGVKYEGLPCC
FYEEKQVARGGGGGSGCYTEDYSVSVQYTLTEEPPPGCYPGARDLSQRIPIIPEDVDCDL
GLPSDCQGTHSLGSWGGTRGPDTPRPHRGLGATREEERALCCQARALLRPGCPPEEAGAV
RANFPSALQDTQESSTTATEAAGPRSHSADSSSPGA
Sequence length 936
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Wnt signaling pathway   Regulation of FZD by ubiquitination
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
ZNRF3-related disorder Pathogenic rs2517532919, rs2517585923, rs2517589753, rs2517591405, rs2517591470, rs2517591496, rs2517591567 RCV004574948
RCV004574951
RCV004574953
RCV004574954
RCV004574955
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of large intestine Colorectal Cancer CGI_DG
★☆☆☆☆
Found in Text Mining only
Adrenocortical carcinoma Adrenocortical carcinoma CTD_human_DG 24747642
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 25490274, 29581542, 29872083, 33513905, 33564960 Associate
★☆☆☆☆
Found in Text Mining only
Adrenocortical carcinoma Adrenocortical carcinoma BEFREE 26739091
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 24747642, 25490274, 26739091, 29872083
★☆☆☆☆
Found in Text Mining only
Angle Closure Glaucoma Angle Closure Glaucoma BEFREE 30348125
★☆☆☆☆
Found in Text Mining only
Aplasia Cutis Congenita Aplasia Cutis Congenita BEFREE 24747642, 25490274, 26739091, 29872083
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma GWASCAT_DG 29059683
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinogenesis Carcinogenesis Pubtator 27661107, 33513905, 35040131 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 40264052 Associate
★☆☆☆☆
Found in Text Mining only