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Aliases for FZD5 Gene

Aliases for FZD5 Gene

  • Frizzled Class Receptor 5 2 3 5
  • Frizzled 5, Seven Transmembrane Spanning Receptor 2 3
  • Frizzled Family Receptor 5 2 3
  • C2orf31 3 4
  • HFZ5 3 4
  • Fz-5 3 4
  • FzE5 3 4
  • Seven-Transmembrane Receptor Frizzled-5 3
  • Chromosome 2 Open Reading Frame 31 2
  • Frizzled (Drosophila) Homolog 5 2
  • Frizzled Homolog 5 (Drosophila) 2
  • Wnt Receptor 3
  • Frizzled-5 3

External Ids for FZD5 Gene

Previous HGNC Symbols for FZD5 Gene

  • C2orf31

Previous GeneCards Identifiers for FZD5 Gene

  • GC02M206847
  • GC02M207355
  • GC02M208594
  • GC02M208833
  • GC02M208456
  • GC02M208338
  • GC02M200469
  • GC02M208628

Summaries for FZD5 Gene

Entrez Gene Summary for FZD5 Gene

  • Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD5 protein is believed to be the receptor for the Wnt5A ligand. [provided by RefSeq, Jul 2008]

GeneCards Summary for FZD5 Gene

FZD5 (Frizzled Class Receptor 5) is a Protein Coding gene. Diseases associated with FZD5 include Coloboma Of Optic Nerve and Coloboma Of Eyelid. Among its related pathways are Ectoderm Differentiation and Mesodermal Commitment Pathway. Gene Ontology (GO) annotations related to this gene include G-protein coupled receptor activity and transmembrane signaling receptor activity. An important paralog of this gene is FZD8.

UniProtKB/Swiss-Prot for FZD5 Gene

  • Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues. Interacts specifically with Wnt5A to induce the beta-catenin pathway.

Gene Wiki entry for FZD5 Gene

Additional gene information for FZD5 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FZD5 Gene

Genomics for FZD5 Gene

GeneHancer (GH) Regulatory Elements for FZD5 Gene

Promoters and enhancers for FZD5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I207762 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.8 1836 10 CLOCK FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 POLR2B FZD5 CREB1 PIKFYVE KLF7-IT1 METTL21A PLEKHM3 MIR4775
GH02I207845 Enhancer 1.4 Ensembl ENCODE dbSUPER 21.6 -78.3 -78266 3.8 FOXA2 MLX ARID4B FEZF1 DMAP1 ZNF2 ZNF48 ETS1 YY1 SLC30A9 FZD5 PLEKHM3 ENSG00000225111
GH02I207968 Enhancer 1.4 UCNEbase Ensembl ENCODE dbSUPER 16.4 -200.2 -200214 3.5 SOX5 SOX13 SIN3A EBF1 ZNF664 SP1 PRDM6 BCL6 EZH2 FZD5 PLEKHM3 RNU6-360P METTL21A GC02M208020 ENSG00000225111
GH02I207791 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 13.7 -22.7 -22738 1.4 ELF3 PKNOX1 ATF1 NFRKB ARID4B RAD21 ZBTB40 RARA ZNF335 FOS FZD5 RNU6-360P PLEKHM3 ENSG00000225111
GH02I208012 Enhancer 1.2 Ensembl ENCODE 16.9 -244.6 -244566 3.8 PKNOX1 CLOCK FOXA2 FEZF1 TCF12 ZNF121 FOS SP5 NFYC MIER2 FZD5 PLEKHM3 CCNYL1 RNU6-360P GC02M208020 ENSG00000225111
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FZD5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FZD5 gene promoter:

Genomic Locations for FZD5 Gene

Genomic Locations for FZD5 Gene
chr2:207,762,586-207,769,563
(GRCh38/hg38)
Size:
6,978 bases
Orientation:
Minus strand
chr2:208,627,310-208,634,287
(GRCh37/hg19)

Genomic View for FZD5 Gene

Genes around FZD5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FZD5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FZD5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FZD5 Gene

Proteins for FZD5 Gene

  • Protein details for FZD5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13467-FZD5_HUMAN
    Recommended name:
    Frizzled-5
    Protein Accession:
    Q13467
    Secondary Accessions:
    • A8K2X1
    • B2RCZ1
    • Q53R22

    Protein attributes for FZD5 Gene

    Size:
    585 amino acids
    Molecular mass:
    64507 Da
    Quaternary structure:
    • Interacts with GOPC.

    Three dimensional structures from OCA and Proteopedia for FZD5 Gene

neXtProt entry for FZD5 Gene

Post-translational modifications for FZD5 Gene

  • Ubiquitinated by RNF43 and ZNRF3, leading to its degradation by the proteasome.
  • Glycosylation at posLast=4747 and posLast=151151

Other Protein References for FZD5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FZD5 Gene

Domains & Families for FZD5 Gene

Gene Families for FZD5 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • G-protein coupled receptors
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for FZD5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13467

UniProtKB/Swiss-Prot:

FZD5_HUMAN :
  • The PDZ-binding motif mediates interaction with GOPC.
  • Belongs to the G-protein coupled receptor Fz/Smo family.
Domain:
  • The PDZ-binding motif mediates interaction with GOPC.
  • Lys-Thr-X-X-X-Trp motif interacts with the PDZ domain of Dvl (Disheveled) family members and is involved in the activation of the Wnt/beta-catenin signaling pathway.
  • The FZ domain is involved in binding with Wnt ligands.
Family:
  • Belongs to the G-protein coupled receptor Fz/Smo family.
genes like me logo Genes that share domains with FZD5: view

Function for FZD5 Gene

Molecular function for FZD5 Gene

GENATLAS Biochemistry:
Drosophila frizzled polarity gene homolog 5,G protein coupled receptor superfamily,exhibiting characteristics of a WNT receptor,(WNT5A,at least in Xenopus),involved in signal transduction,activating Dishevelled
UniProtKB/Swiss-Prot Function:
Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues. Interacts specifically with Wnt5A to induce the beta-catenin pathway.

Gene Ontology (GO) - Molecular Function for FZD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 amyloid-beta binding TAS 24449494
GO:0004871 signal transducer activity IEA --
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0004930 G-protein coupled receptor activity IBA --
GO:0005515 protein binding IPI 18838381
genes like me logo Genes that share ontologies with FZD5: view
genes like me logo Genes that share phenotypes with FZD5: view

Animal Models for FZD5 Gene

MGI Knock Outs for FZD5:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for FZD5

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FZD5 Gene

Localization for FZD5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FZD5 Gene

Cell membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Note=Localized at the plasma membrane and also found at the Golgi. {ECO:0000250}.

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 FZD5 gene
Compartment Confidence
plasma membrane 5
endosome 4
golgi apparatus 3
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for FZD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005769 early endosome IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 15459103
genes like me logo Genes that share ontologies with FZD5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FZD5 Gene

Pathways & Interactions for FZD5 Gene

genes like me logo Genes that share pathways with FZD5: view

SIGNOR curated interactions for FZD5 Gene

Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for FZD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000578 embryonic axis specification IDA 12121999
GO:0001525 angiogenesis IEA --
GO:0001944 vasculature development IEA --
GO:0002726 positive regulation of T cell cytokine production IDA 16601243
GO:0007165 signal transduction IEA --
genes like me logo Genes that share ontologies with FZD5: view

Drugs & Compounds for FZD5 Gene

(1) Drugs for FZD5 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
genes like me logo Genes that share compounds with FZD5: view

Transcripts for FZD5 Gene

mRNA/cDNA for FZD5 Gene

(2) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(113) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FZD5 Gene

Frizzled family receptor 5:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for FZD5

Alternative Splicing Database (ASD) splice patterns (SP) for FZD5 Gene

No ASD Table

Relevant External Links for FZD5 Gene

GeneLoc Exon Structure for
FZD5
ECgene alternative splicing isoforms for
FZD5

Expression for FZD5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FZD5 Gene

mRNA differential expression in normal tissues according to GTEx for FZD5 Gene

This gene is overexpressed in Colon - Transverse (x6.5) and Liver (x6.1).

Protein differential expression in normal tissues from HIPED for FZD5 Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FZD5 Gene



Protein tissue co-expression partners for FZD5 Gene

NURSA nuclear receptor signaling pathways regulating expression of FZD5 Gene:

FZD5

SOURCE GeneReport for Unigene cluster for FZD5 Gene:

Hs.17631

Evidence on tissue expression from TISSUES for FZD5 Gene

  • Eye(4.3)
  • Blood(4.2)
  • Spleen(4.1)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with FZD5: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FZD5 Gene

Orthologs for FZD5 Gene

This gene was present in the common ancestor of animals.

Orthologs for FZD5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FZD5 33 34
  • 99.72 (n)
dog
(Canis familiaris)
Mammalia FZD5 33 34
  • 94.52 (n)
cow
(Bos Taurus)
Mammalia FZD5 33 34
  • 93.45 (n)
mouse
(Mus musculus)
Mammalia Fzd5 33 16 34
  • 89.63 (n)
rat
(Rattus norvegicus)
Mammalia Fzd5 33
  • 89.06 (n)
oppossum
(Monodelphis domestica)
Mammalia FZD5 34
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FZD5 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves FZD5 33
  • 80.28 (n)
lizard
(Anolis carolinensis)
Reptilia FZD5 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fzd5 33
  • 67.6 (n)
zebrafish
(Danio rerio)
Actinopterygii fzd5 33 34
  • 68.94 (n)
fruit fly
(Drosophila melanogaster)
Insecta fz2 35 33 34
  • 67.13 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta GPRFZ2 33
  • 67 (n)
worm
(Caenorhabditis elegans)
Secernentea cfz-2 35
  • 39 (a)
mom-5 35
  • 36 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 35 (a)
OneToMany
Species where no ortholog for FZD5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 FZD5 Gene

ENSEMBL:
Gene Tree for FZD5 (if available)
TreeFam:
Gene Tree for FZD5 (if available)

Paralogs for FZD5 Gene

Paralogs for FZD5 Gene

(10) SIMAP similar genes for FZD5 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with FZD5: view

Variants for FZD5 Gene

Sequence variations from dbSNP and Humsavar for FZD5 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs756316536 uncertain-significance, Exstrophy of the bladder 207,768,473(-) C/T coding_sequence_variant, missense_variant
rs1000650412 -- 207,767,138(-) G/C coding_sequence_variant, synonymous_variant
rs1000660229 -- 207,766,878(-) G/A 3_prime_UTR_variant
rs1000820641 -- 207,765,332(-) G/A/T 3_prime_UTR_variant
rs1000934893 -- 207,765,032(-) T/C 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for FZD5 Gene

Variant ID Type Subtype PubMed ID
nsv3133 CNV insertion 18451855
nsv821889 CNV gain 20364138

Variation tolerance for FZD5 Gene

Residual Variation Intolerance Score: 17.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.92; 49.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FZD5 Gene

Human Gene Mutation Database (HGMD)
FZD5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FZD5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FZD5 Gene

Disorders for FZD5 Gene

MalaCards: The human disease database

(6) MalaCards diseases for FZD5 Gene - From: HGMD, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
coloboma of optic nerve
  • morning glory disc anomaly
coloboma of eyelid
coloboma of eye lens
coloboma, ocular, autosomal dominant
  • coloboma, uveoretinal
coloboma of macula
  • agenesis of macula
- elite association - COSMIC cancer census association via MalaCards
Search FZD5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FZD5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FZD5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FZD5 Gene

Publications for FZD5 Gene

  1. Molecular cloning and characterization of human Frizzled-5 gene on chromosome 2q33.3-q34 region. (PMID: 11408929) Saitoh T … Katoh M (International journal of oncology 2001) 2 3 4 22 58
  2. A large family of putative transmembrane receptors homologous to the product of the Drosophila tissue polarity gene frizzled. (PMID: 8626800) Wang Y … Nathans J (The Journal of biological chemistry 1996) 2 3 4 58
  3. ZNRF3 promotes Wnt receptor turnover in an R-spondin-sensitive manner. (PMID: 22575959) Hao HX … Cong F (Nature 2012) 3 4 58
  4. Tumour suppressor RNF43 is a stem-cell E3 ligase that induces endocytosis of Wnt receptors. (PMID: 22895187) Koo BK … Clevers H (Nature 2012) 3 4 58
  5. Analysis of eight genes modulating interferon gamma and human genetic susceptibility to tuberculosis: a case-control association study. (PMID: 20525402) Möller M … Hoal EG (BMC infectious diseases 2010) 3 44 58

Products for FZD5 Gene

  • Addgene plasmids for FZD5

Sources for FZD5 Gene

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