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Aliases for ZNRF3 Gene

Aliases for ZNRF3 Gene

  • Zinc And Ring Finger 3 2 3 5
  • Zinc/RING Finger Protein 3 3 4
  • RING Finger Protein 203 3 4
  • RNF203 3 4
  • Novel C3HC4 Type Zinc Finger (Ring Finger) 3
  • E3 Ubiquitin-Protein Ligase ZNRF3 3
  • CTA-292E10.6 3
  • EC 6.3.2.- 4
  • BK747E2.3 3
  • KIAA1133 4

External Ids for ZNRF3 Gene

Previous GeneCards Identifiers for ZNRF3 Gene

  • GC22P027605
  • GC22P029279
  • GC22P012347
  • GC22P028883

Summaries for ZNRF3 Gene

GeneCards Summary for ZNRF3 Gene

ZNRF3 (Zinc And Ring Finger 3) is a Protein Coding gene. Diseases associated with ZNRF3 include Osteoblastoma and Pseudosarcomatous Fibromatosis. Among its related pathways are Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling and Signaling by Wnt. GO annotations related to this gene include ligase activity and frizzled binding. An important paralog of this gene is RNF43.

UniProtKB/Swiss-Prot for ZNRF3 Gene

  • 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 Wnt signaling pathway. Acts as a tumor suppressor in the intestinal stem cell zone by inhibiting the Wnt signaling pathway, thereby resticting the size of the intestinal stem cell zone.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZNRF3 Gene

Genomics for ZNRF3 Gene

Regulatory Elements for ZNRF3 Gene

Enhancers for ZNRF3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22F028910 1.3 Ensembl ENCODE 23 +111.3 111302 2.8 PKNOX1 ARNT MLX CREB3L1 ZFP64 ARID4B SIN3A FEZF1 ZNF2 YY1 ZNRF3 ENSG00000272858 C22orf31 THOC5 CHEK2 HSCB GC22P028904 ZNRF3-IT1
GH22F028916 1.3 Ensembl ENCODE 23 +117.6 117554 3.7 MLX WRNIP1 ZFP64 ARID4B ZNF48 GLIS2 ZNF263 SP5 PPARG KAT8 ZNRF3 C22orf31 CCDC117 CHEK2 HSCB GC22P028904 ZNRF3-IT1
GH22F029028 1.7 FANTOM5 Ensembl ENCODE 11.5 +230.6 230577 4.8 MLX ARID4B SIN3A YY1 FOS ZNF263 SP3 SP5 REST KAT8 C22orf31 CCDC117 KREMEN1 ZNRF3 ENSG00000226471 XBP1 ENSG00000226772 RNU6-810P ZNRF3-AS1 ASCC2
GH22F028922 1.6 FANTOM5 Ensembl ENCODE 10.8 +123.1 123146 2.5 ATF1 MLX ARID4B DMAP1 ZNF48 YY1 ZNF121 SP5 NFYC REST ZNRF3 C22orf31 HSCB CHEK2 GC22P028904 ZNRF3-IT1
GH22F028807 1.8 FANTOM5 Ensembl ENCODE 9.2 +15.6 15618 18.1 HDGF PKNOX1 ARNT MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 CCDC117 C22orf31 ZNRF3 ENSG00000272858 XBP1 HSCB TTC28 CHEK2 EMID1 GC22M028836
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ZNRF3 on UCSC Golden Path with GeneCards custom track

Promoters for ZNRF3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000616558 -354 4601 HDGF PKNOX1 CREB3L1 ARNT MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2

Genomic Location for ZNRF3 Gene

Chromosome:
22
Start:
28,800,654 bp from pter
End:
29,057,488 bp from pter
Size:
256,835 bases
Orientation:
Plus strand

Genomic View for ZNRF3 Gene

Genes around ZNRF3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZNRF3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZNRF3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNRF3 Gene

Proteins for ZNRF3 Gene

  • Protein details for ZNRF3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9ULT6-ZNRF3_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase ZNRF3
    Protein Accession:
    Q9ULT6
    Secondary Accessions:
    • B3KU18
    • Q6ICH1
    • Q6NTF8
    • Q8WU18

    Protein attributes for ZNRF3 Gene

    Size:
    936 amino acids
    Molecular mass:
    100574 Da
    Quaternary structure:
    • Interacts with LRP6, FZD4, FZD5, FZD6 and FZD8. Interacts with RSPO1; interaction promotes indirect interaction with LGR4 and membrane clearance of ZNRF3.
    SequenceCaution:
    • Sequence=CAG30283.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for ZNRF3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZNRF3 Gene

Post-translational modifications for ZNRF3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ZNRF3 Gene

Domains & Families for ZNRF3 Gene

Gene Families for ZNRF3 Gene

Protein Domains for ZNRF3 Gene

Suggested Antigen Peptide Sequences for ZNRF3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9ULT6

UniProtKB/Swiss-Prot:

ZNRF3_HUMAN :
  • Belongs to the ZNRF3 family.
  • Contains 1 RING-type zinc finger.
Family:
  • Belongs to the ZNRF3 family.
Similarity:
  • Contains 1 RING-type zinc finger.
genes like me logo Genes that share domains with ZNRF3: view

Function for ZNRF3 Gene

Molecular function for ZNRF3 Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
Negatively regulated by R-spondin proteins such as RSPO1: interaction with RSPO1 induces the indirect association between ZNRF3 and LGR4, promoting membrane clearance of ZNRF3.
UniProtKB/Swiss-Prot 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 Wnt signaling pathway. Acts as a tumor suppressor in the intestinal stem cell zone by inhibiting the Wnt signaling pathway, thereby resticting the size of the intestinal stem cell zone.

Enzyme Numbers (IUBMB) for ZNRF3 Gene

Gene Ontology (GO) - Molecular Function for ZNRF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IDA 22575959
GO:0005109 frizzled binding IPI 22575959
GO:0005515 protein binding IPI 22575959
GO:0008270 zinc ion binding IEA --
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with ZNRF3: view
genes like me logo Genes that share phenotypes with ZNRF3: view

Animal Models for ZNRF3 Gene

MGI Knock Outs for ZNRF3:

Animal Model Products

miRNA for ZNRF3 Gene

miRTarBase miRNAs that target ZNRF3

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ZNRF3 Gene

Localization for ZNRF3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNRF3 Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZNRF3 gene
Compartment Confidence
plasma membrane 5
nucleus 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ZNRF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 22575959
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ZNRF3: view

Pathways & Interactions for ZNRF3 Gene

genes like me logo Genes that share pathways with ZNRF3: view

UniProtKB/Swiss-Prot Q9ULT6-ZNRF3_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for ZNRF3 Gene

Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for ZNRF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006511 ubiquitin-dependent protein catabolic process IMP 22575959
GO:0016055 Wnt signaling pathway IEA --
GO:0016567 protein ubiquitination IEA --
GO:0030178 negative regulation of Wnt signaling pathway IEA --
GO:0038018 Wnt receptor catabolic process TAS 24431302
genes like me logo Genes that share ontologies with ZNRF3: view

Transcripts for ZNRF3 Gene

Unigene Clusters for ZNRF3 Gene

Zinc and ring finger 3:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZNRF3 Gene

No ASD Table

Relevant External Links for ZNRF3 Gene

GeneLoc Exon Structure for
ZNRF3
ECgene alternative splicing isoforms for
ZNRF3

Expression for ZNRF3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZNRF3 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ZNRF3 Gene



NURSA nuclear receptor signaling pathways regulating expression of ZNRF3 Gene:

ZNRF3

SOURCE GeneReport for Unigene cluster for ZNRF3 Gene:

Hs.655242
genes like me logo Genes that share expression patterns with ZNRF3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for ZNRF3 Gene

Orthologs for ZNRF3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ZNRF3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZNRF3 34 35
  • 99.28 (n)
dog
(Canis familiaris)
Mammalia ZNRF3 34 35
  • 90.1 (n)
mouse
(Mus musculus)
Mammalia Znrf3 34 16 35
  • 86.26 (n)
rat
(Rattus norvegicus)
Mammalia Znrf3 34
  • 81.1 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ZNRF3 35
  • 73 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ZNRF3 35
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ZNRF3 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZNRF3 34 35
  • 73.11 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia znrf3 34
  • 65.1 (n)
zebrafish
(Danio rerio)
Actinopterygii znrf3 34 35
  • 64.83 (n)
worm
(Caenorhabditis elegans)
Secernentea Y47D3B.11 35
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8714 35
  • 32 (a)
OneToMany
Species where no ortholog for ZNRF3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ZNRF3 Gene

ENSEMBL:
Gene Tree for ZNRF3 (if available)
TreeFam:
Gene Tree for ZNRF3 (if available)

Paralogs for ZNRF3 Gene

genes like me logo Genes that share paralogs with ZNRF3: view

Variants for ZNRF3 Gene

Sequence variations from dbSNP and Humsavar for ZNRF3 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs10154819 -- 28,862,563(+) catgt(G/T)tGTAC intron-variant
rs10222249 -- 28,861,159(+) ACCAC(A/G)TGACT intron-variant
rs10222265 -- 28,861,519(+) CATTg(G/T)ctggg intron-variant
rs10427628 -- 28,843,778(+) AAAGT(C/T)TCCGT intron-variant
rs10427930 -- 28,906,727(+) CAGCT(A/G)CAATA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ZNRF3 Gene

Variant ID Type Subtype PubMed ID
nsv953066 CNV deletion 24416366
nsv834169 CNV loss 17160897
nsv476091 CNV novel sequence insertion 20440878
nsv471980 CNV novel sequence insertion 20440878
nsv3589 CNV deletion 18451855
nsv1072633 CNV deletion 25765185
nsv1064079 CNV gain 25217958
esv3647523 CNV loss 21293372
esv26777 CNV loss 19812545
esv2657238 CNV deletion 23128226

Variation tolerance for ZNRF3 Gene

Residual Variation Intolerance Score: 10.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.10; 38.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ZNRF3 Gene

Human Gene Mutation Database (HGMD)
ZNRF3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZNRF3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZNRF3 Gene

Disorders for ZNRF3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ZNRF3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
osteoblastoma
pseudosarcomatous fibromatosis
  • fasciitis - nodular
- elite association - COSMIC cancer census association via MalaCards
Search ZNRF3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ZNRF3

Genetic Association Database (GAD)
ZNRF3
Human Genome Epidemiology (HuGE) Navigator
ZNRF3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZNRF3
genes like me logo Genes that share disorders with ZNRF3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZNRF3 Gene

Publications for ZNRF3 Gene

  1. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PMID: 10574461) Hirosawa M. … Ohara O. (DNA Res. 1999) 2 3 4 64
  2. ZNRF3 promotes Wnt receptor turnover in an R-spondin-sensitive manner. (PMID: 22575959) Hao H.X. … Cong F. (Nature 2012) 3 4 64
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  4. Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. (PMID: 20935629) Heid I.M. … Lindgren C.M. (Nat. Genet. 2010) 3 46 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for ZNRF3 Gene

Sources for ZNRF3 Gene

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