This intronless gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the wingless type MMTV integration site family of signaling proteins. This gene encodes a protein that is coupled to the beta-catenin canonical signaling pathway. Competition between the wingless-type MMTV integration site family... See more...

Aliases for FZD2 Gene

Aliases for FZD2 Gene

  • Frizzled Class Receptor 2 2 3 5
  • Frizzled 2, Seven Transmembrane Spanning Receptor 2 3
  • Frizzled Family Receptor 2 2 3
  • Frizzled-2 3 4
  • Fz-2 3 4
  • FzE2 3 4
  • HFz2 3 4
  • Frizzled (Drosophila) Homolog 2 2
  • Frizzled Homolog 2 (Drosophila) 2
  • Frizzled Homolog 2 3
  • OMOD2 3
  • Fz2 3

External Ids for FZD2 Gene

Previous GeneCards Identifiers for FZD2 Gene

  • GC17P042290
  • GC17P044812
  • GC17P042645
  • GC17P043109
  • GC17P043110
  • GC17P039990
  • GC17P038404

Summaries for FZD2 Gene

Entrez Gene Summary for FZD2 Gene

  • This intronless gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the wingless type MMTV integration site family of signaling proteins. This gene encodes a protein that is coupled to the beta-catenin canonical signaling pathway. Competition between the wingless-type MMTV integration site family, member 3A and wingless-type MMTV integration site family, member 5A gene products for binding of this protein is thought to regulate the beta-catenin-dependent and -independent pathways. [provided by RefSeq, Dec 2010]

GeneCards Summary for FZD2 Gene

FZD2 (Frizzled Class Receptor 2) is a Protein Coding gene. Diseases associated with FZD2 include Omodysplasia 2 and Autosomal Dominant Robinow Syndrome. Among its related pathways are MicroRNAs in cardiomyocyte hypertrophy and ERK Signaling. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and PDZ domain binding. An important paralog of this gene is FZD1.

UniProtKB/Swiss-Prot Summary for FZD2 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 (PubMed:25759469). 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.

Gene Wiki entry for FZD2 Gene

Additional gene information for FZD2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FZD2 Gene

Genomics for FZD2 Gene

GeneHancer (GH) Regulatory Elements for FZD2 Gene

Promoters and enhancers for FZD2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FZD2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FZD2

Top Transcription factor binding sites by QIAGEN in the FZD2 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • c-Ets-1
  • COMP1
  • CUTL1
  • FOXO4
  • POU2F1
  • POU2F1a

Genomic Locations for FZD2 Gene

Genomic Locations for FZD2 Gene
chr17:44,557,444-44,561,262
(GRCh38/hg38)
Size:
3,819 bases
Orientation:
Plus strand
chr17:42,634,812-42,638,630
(GRCh37/hg19)
Size:
3,819 bases
Orientation:
Plus strand

Genomic View for FZD2 Gene

Genes around FZD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FZD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FZD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FZD2 Gene

Proteins for FZD2 Gene

  • Protein details for FZD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14332-FZD2_HUMAN
    Recommended name:
    Frizzled-2
    Protein Accession:
    Q14332
    Secondary Accessions:
    • Q0VG82

    Protein attributes for FZD2 Gene

    Size:
    565 amino acids
    Molecular mass:
    63554 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for FZD2 Gene

neXtProt entry for FZD2 Gene

Post-translational modifications for FZD2 Gene

  • Ubiquitinated by ZNRF3, leading to its degradation by the proteasome.
  • Glycosylation at Ser32, Asn53, Asn154, Thr165, Thr166, Thr179, and Thr194
  • Ubiquitination at Lys214
  • Modification sites at PhosphoSitePlus

Other Protein References for FZD2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FZD2 Gene

Domains & Families for FZD2 Gene

Gene Families for FZD2 Gene

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

Protein Domains for FZD2 Gene

Blocks:
  • Frizzled protein signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FZD2 Gene

GenScript: Design optimal peptide antigens:
  • FzE2 (FZD2_HUMAN)
  • FZD2 protein (Q86UZ8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14332

UniProtKB/Swiss-Prot:

FZD2_HUMAN :
  • 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.
  • Belongs to the G-protein coupled receptor Fz/Smo family.
Domain:
  • 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 FZD2: view

Function for FZD2 Gene

Molecular function for FZD2 Gene

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 (PubMed:25759469). 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.
GENATLAS Biochemistry:
Drosophila frizzled polarity gene homolog,G protein coupled receptor superfamily,exhibiting characteristics of a WNT receptor,expressed in adult heart,fetal brain,lung and kidney,involved in signal transduction,activating Dishevelled

Phenotypes From GWAS Catalog for FZD2 Gene

Gene Ontology (GO) - Molecular Function for FZD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0004930 G protein-coupled receptor activity IEA --
GO:0005515 protein binding IEA,IPI 25417160
GO:0017147 Wnt-protein binding NAS 24431302
GO:0030165 PDZ domain binding IPI 19388021
genes like me logo Genes that share ontologies with FZD2: view
genes like me logo Genes that share phenotypes with FZD2: view

Human Phenotype Ontology for FZD2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FZD2 Gene

MGI Knock Outs for FZD2:
  • Fzd2 Fzd2<tm1.1Nat>
  • Fzd2 Fzd2<tm1.1(KOMP)Vlcg>

Animal Model Products

  • Taconic Biosciences Mouse Models for FZD2

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FZD2 Gene

Localization for FZD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FZD2 Gene

Membrane; Multi-pass membrane protein. Cell membrane; Multi-pass 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 FZD2 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
nucleus 2
cytosol 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Nuclear bodies (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FZD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 19038973
GO:0005886 plasma membrane IDA,TAS --
GO:0005925 focal adhesion HDA 21423176
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with FZD2: view

Pathways & Interactions for FZD2 Gene

genes like me logo Genes that share pathways with FZD2: view

Pathways by source for FZD2 Gene

2 GeneGo (Thomson Reuters) pathways for FZD2 Gene
  • Transcription Androgen Receptor nuclear signaling
  • Translation Non-genomic (rapid) action of Androgen Receptor
11 Qiagen pathways for FZD2 Gene
  • Colorectal Cancer Metastasis
  • Factors Promoting Cardiogenesis in Vertebrates
  • G12-G13 in Cellular Signaling
  • Glioblastoma Multiforme
  • GSK3 Signaling
2 GeneTex pathways for FZD2 Gene

SIGNOR curated interactions for FZD2 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for FZD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003149 membranous septum morphogenesis IEA --
GO:0003150 muscular septum morphogenesis IEA --
GO:0003151 outflow tract morphogenesis IEA --
GO:0007165 signal transduction IEA --
GO:0007166 cell surface receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with FZD2: view

Drugs & Compounds for FZD2 Gene

(1) Drugs for FZD2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7884
genes like me logo Genes that share compounds with FZD2: view

Transcripts for FZD2 Gene

mRNA/cDNA for FZD2 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FZD2 Gene

No ASD Table

Relevant External Links for FZD2 Gene

GeneLoc Exon Structure for
FZD2

Expression for FZD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FZD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FZD2 Gene

This gene is overexpressed in Artery - Aorta (x5.0).

Protein differential expression in normal tissues from HIPED for FZD2 Gene

This gene is overexpressed in Fetal testis (43.2), Ovary (15.3), and Fetal ovary (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FZD2 Gene



Protein tissue co-expression partners for FZD2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FZD2

SOURCE GeneReport for Unigene cluster for FZD2 Gene:

Hs.142912

mRNA Expression by UniProt/SwissProt for FZD2 Gene:

Q14332-FZD2_HUMAN
Tissue specificity: Widely expressed. In the adult, mainly found in heart, placenta, skeletal muscle, lung, kidney, pancreas, prostate, testis, ovary and colon. In the fetus, expressed in brain, lung and kidney. Low levels in fetal liver.

Evidence on tissue expression from TISSUES for FZD2 Gene

  • Lung(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FZD2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • reproductive
  • skeleton
  • urinary
Regions:
Head and neck:
  • eye
  • face
  • forehead
  • head
  • jaw
  • lip
  • maxilla
  • mouth
  • nose
  • skull
Pelvis:
  • penis
  • testicle
  • urethra
Limb:
  • arm
  • digit
  • elbow
  • finger
  • forearm
  • hand
  • humerus
  • radius
  • upper limb
General:
  • skin
genes like me logo Genes that share expression patterns with FZD2: view

Orthologs for FZD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for FZD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FZD2 31 30
  • 99.02 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FZD2 31
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FZD2 31 30
  • 95.04 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FZD2 31 30
  • 94.1 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fzd2 17 31 30
  • 92.18 (n)
rat
(Rattus norvegicus)
Mammalia Fzd2 30
  • 91.82 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FZD2 31
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves FZD2 31 30
  • 88.58 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FZD2 31
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fzd2 30
  • 77.46 (n)
Str.2004 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.560 30
zebrafish
(Danio rerio)
Actinopterygii fzd2 31 30
  • 74.03 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta fz 31 32
  • 44 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mom-5 32
  • 38 (a)
cfz-2 32
  • 36 (a)
Species where no ortholog for FZD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 FZD2 Gene

ENSEMBL:
Gene Tree for FZD2 (if available)
TreeFam:
Gene Tree for FZD2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FZD2: view image

Paralogs for FZD2 Gene

Paralogs for FZD2 Gene

(10) SIMAP similar genes for FZD2 Gene using alignment to 2 proteins:

  • FZD2_HUMAN
  • Q86UZ8_HUMAN
genes like me logo Genes that share paralogs with FZD2: view

Variants for FZD2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FZD2 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
545124 Uncertain Significance: Keratoconus 44,558,926(+) G/A MISSENSE_VARIANT
rs1223920489 Likely Pathogenic: Robinow syndrome, autosomal dominant 2 44,558,988(+) G/A MISSENSE_VARIANT
rs1555657045 Likely Pathogenic: Robinow syndrome, autosomal dominant 2 44,558,818(+) G/A NONSENSE
rs1555657073 Likely Pathogenic: Robinow syndrome, autosomal dominant 3. Omodysplasia 2 (OMOD2) [MIM:164745] 44,558,989(+) G/Tp.Gly434Val MISSENSE_VARIANT
rs1555657074 Likely Pathogenic: Robinow syndrome, autosomal dominant 2 44,558,989(+) GC/TT MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for FZD2 Gene

Structural Variations from Database of Genomic Variants (DGV) for FZD2 Gene

Variant ID Type Subtype PubMed ID
nsv1146669 OTHER inversion 26484159

Variation tolerance for FZD2 Gene

Residual Variation Intolerance Score: 22.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.62; 31.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FZD2 Gene

Human Gene Mutation Database (HGMD)
FZD2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FZD2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FZD2 Gene

Disorders for FZD2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for FZD2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
omodysplasia 2
  • omod2
autosomal dominant robinow syndrome
  • fetal face syndrome
omodysplasia
  • omodysplasia 2
robinow syndrome
  • robinow dwarfism
robinow syndrome, autosomal dominant 3
  • drs3
- elite association - COSMIC cancer census association via MalaCards
Search FZD2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FZD2_HUMAN
  • Omodysplasia 2 (OMOD2) [MIM:164745]: A rare autosomal dominant skeletal dysplasia characterized by short humeri, radial head dislocation, short first metacarpals, facial dysmorphism and genitourinary anomalies. {ECO:0000269 PubMed:25759469, ECO:0000269 PubMed:29230162, ECO:0000269 PubMed:29383834, ECO:0000269 PubMed:30455931}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for FZD2

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 FZD2: view

No data available for Genatlas for FZD2 Gene

Publications for FZD2 Gene

  1. Molecular cloning, differential expression, and chromosomal localization of human frizzled-1, frizzled-2, and frizzled-7. (PMID: 9813155) Sagara N … Katoh M (Biochemical and biophysical research communications 1998) 2 3 4 23 54
  2. A human homologue of the Drosophila polarity gene frizzled has been identified and mapped to 17q21.1. (PMID: 7558010) Zhao Z … Caskey CT (Genomics 1995) 2 3 4 23 54
  3. Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes. (PMID: 29383834) Nagasaki K … Saitoh A (American journal of medical genetics. Part A 2018) 3 4 54
  4. A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia. (PMID: 25759469) Saal HM … Stottmann RW (Human molecular genetics 2015) 3 4 54
  5. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A … Murray JC (PloS one 2010) 3 41 54

Products for FZD2 Gene

Sources for FZD2 Gene