The protein encoded by this gene is a secreted protein that is involved in the regulation of bone development. Defects in this gene are a cause of female-specific osteoarthritis (OA) susceptibility. [provided by RefSeq, Apr 2010] See more...

Aliases for FRZB Gene

Aliases for FRZB Gene

  • Frizzled Related Protein 2 3 5
  • Secreted Frizzled-Related Protein 3 2 3 4
  • FRZB1 2 3 4
  • SFRP3 2 3 4
  • FRE 2 3 4
  • Frizzled-Related Protein 1 3 4
  • FRZB-PEN 2 3
  • Frezzled 3 4
  • FRZB-1 2 3
  • SFRP-3 3 4
  • FRITZ 2 3
  • FRP-3 2 3
  • SRFP3 2 3
  • FZRB 2 3
  • HFIZ 2 3
  • Frizzled Homolog-Related 3
  • FrzB-1 4
  • Fritz 4
  • FRZB 5
  • OS1 3
  • FIZ 4
  • FRP 4

External Ids for FRZB Gene

Previous GeneCards Identifiers for FRZB Gene

  • GC02M181906
  • GC02M182382
  • GC02M183662
  • GC02M183901
  • GC02M183524
  • GC02M183406
  • GC02M175555

Summaries for FRZB Gene

Entrez Gene Summary for FRZB Gene

  • The protein encoded by this gene is a secreted protein that is involved in the regulation of bone development. Defects in this gene are a cause of female-specific osteoarthritis (OA) susceptibility. [provided by RefSeq, Apr 2010]

GeneCards Summary for FRZB Gene

FRZB (Frizzled Related Protein) is a Protein Coding gene. Diseases associated with FRZB include Osteoarthritis and Holzgreve Syndrome. Among its related pathways are Hepatitis C and Hepatocellular Carcinoma and Adipogenesis. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and Wnt-protein binding. An important paralog of this gene is SFRP4.

UniProtKB/Swiss-Prot Summary for FRZB Gene

  • Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types. SFRP3/FRZB appears to be involved in limb skeletogenesis. Antagonist of Wnt8 signaling. Regulates chondrocyte maturation and long bone development.

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

Genomics for FRZB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FRZB 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
GH02J182866 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 622.5 +0.4 361 4.8 RNF2 ZIC2 ZSCAN4 RXRB GABPA ZNF600 ZNF341 ZBTB20 CEBPB TGIF2 FRZB DUSP19 piR-38580-172 DNAJC10
GH02J182889 Enhancer 0.9 Ensembl ENCODE 31.6 -24.5 -24476 2.4 GATAD2A ATF7 ZIC2 IRF2 SP1 ZNF600 CEBPA SCRT2 CEBPB SCRT1 FRZB MG828595 RF00026-599 RNU6-1122P NCKAP1
GH02J183034 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 9.6 -170.5 -170531 4.8 GATAD2A CTCF PRDM10 REST TFE3 LEF1 IKZF1 NFKBIZ KDM1A ZNF692 NCKAP1 NUP35 DNAJC10 FRZB ENSG00000202141
GH02J182818 Enhancer 1 Ensembl ENCODE CraniofacialAtlas 14.9 +48.2 48161 3.6 ZIC2 ZBTB44 EZH2 ZSCAN5C OSR2 ZNF580 USF1 YY1 OVOL3 ZNF189 FRZB ENSG00000212404 lnc-DNAJC10-2 DNAJC10
GH02J182906 Enhancer 0.8 Ensembl ENCODE 17.9 -40.6 -40643 1.4 ZNF24 POLR2A ZNF184 ZXDB ESR1 ZBTB2 OSR2 ZNF580 TRIM24 EHMT2 FRZB NCKAP1 lnc-DNAJC10-4 MG828595
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FRZB on the GeneHancer Hub at the UCSC Golden Path

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

Top Transcription factor binding sites by QIAGEN in the FRZB gene promoter:
  • AML1a
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • IRF-7A
  • LCR-F1
  • N-Myc

Genomic Locations for FRZB Gene

Genomic Locations for FRZB Gene
chr2:182,833,275-182,866,637
(GRCh38/hg38)
Size:
33,363 bases
Orientation:
Minus strand
chr2:183,698,002-183,731,890
(GRCh37/hg19)
Size:
33,889 bases
Orientation:
Minus strand

Genomic View for FRZB Gene

Genes around FRZB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for FRZB Gene

Proteins for FRZB Gene

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

    Protein Symbol:
    Q92765-SFRP3_HUMAN
    Recommended name:
    Secreted frizzled-related protein 3
    Protein Accession:
    Q92765
    Secondary Accessions:
    • O00181
    • Q99686

    Protein attributes for FRZB Gene

    Size:
    325 amino acids
    Molecular mass:
    36254 Da
    Quaternary structure:
    • Interacts with MYOC.

neXtProt entry for FRZB Gene

Post-translational modifications for FRZB Gene

  • Glycosylation at Asn49
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • SFRP3_HUMAN (1725)

Other Protein References for FRZB Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FRZB Gene

Domains & Families for FRZB Gene

Gene Families for FRZB Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for FRZB Gene

GenScript: Design optimal peptide antigens:
  • Frizzled-related protein (D9ZGF6_HUMAN)
  • FrzB-1 (SFRP3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92765

UniProtKB/Swiss-Prot:

SFRP3_HUMAN :
  • The FZ domain is involved in binding with Wnt ligands.
  • Belongs to the secreted frizzled-related protein (sFRP) family.
Domain:
  • The FZ domain is involved in binding with Wnt ligands.
Family:
  • Belongs to the secreted frizzled-related protein (sFRP) family.
genes like me logo Genes that share domains with FRZB: view

Function for FRZB Gene

Molecular function for FRZB Gene

UniProtKB/Swiss-Prot Function:
Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types. SFRP3/FRZB appears to be involved in limb skeletogenesis. Antagonist of Wnt8 signaling. Regulates chondrocyte maturation and long bone development.
GENATLAS Biochemistry:
Drosophila frizzled polarity homolog,secreted related protein 3,mouse sfrp 3 homolog,likely involved in WNT binding and signal transduction

LifeMap Function Summary for FRZB Gene

During embryonic development, FRZB as signaling molecule is secreted from the following cells
It affects the following cells:

Phenotypes From GWAS Catalog for FRZB Gene

Gene Ontology (GO) - Molecular Function for FRZB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI --
GO:0017147 Wnt-protein binding IEA,NAS 24431302
genes like me logo Genes that share ontologies with FRZB: view
genes like me logo Genes that share phenotypes with FRZB: view

Human Phenotype Ontology for FRZB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FRZB Gene

MGI Knock Outs for FRZB:

Animal Model Products

  • Taconic Biosciences Mouse Models for FRZB

CRISPR Products

miRNA for FRZB Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FRZB

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

Localization for FRZB Gene

Subcellular locations from UniProtKB/Swiss-Prot for FRZB Gene

Secreted.

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 FRZB gene
Compartment Confidence
extracellular 4
plasma membrane 3
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for FRZB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA,ISS 22261194
GO:0005737 cytoplasm IBA 21873635
GO:0016020 membrane TAS 8824257
genes like me logo Genes that share ontologies with FRZB: view

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

Pathways & Interactions for FRZB Gene

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

Pathways by source for FRZB Gene

1 Qiagen pathway for FRZB Gene
  • WNT Signaling

SIGNOR curated interactions for FRZB Gene

Inactivates:

Gene Ontology (GO) - Biological Process for FRZB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 8824257
GO:0007275 multicellular organism development IEA --
GO:0008285 negative regulation of cell proliferation IDA 20208569
GO:0010721 negative regulation of cell development IEA --
GO:0014033 neural crest cell differentiation IEA --
genes like me logo Genes that share ontologies with FRZB: view

Drugs & Compounds for FRZB Gene

No Compound Related Data Available

Transcripts for FRZB Gene

mRNA/cDNA for FRZB Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FRZB

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

No ASD Table

Relevant External Links for FRZB Gene

GeneLoc Exon Structure for
FRZB

Expression for FRZB Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Artery - Aorta (x13.8), Artery - Tibial (x6.4), and Artery - Coronary (x5.9).

Protein differential expression in normal tissues from HIPED for FRZB Gene

This gene is overexpressed in Vitreous humor (51.2) and Platelet (14.3).

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



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

SOURCE GeneReport for Unigene cluster for FRZB Gene:

Hs.128453

mRNA Expression by UniProt/SwissProt for FRZB Gene:

Q92765-SFRP3_HUMAN
Tissue specificity: Expressed primarily in the cartilaginous cores of the long bone during embryonic and fetal development and in the appendicular skeleton (6-13 weeks). At 13 weeks of gestation, transcripts were present in early chondroblasts of the tarsal bones of the foot, the carpal bones of the hands and the epiphysis of long bones. Highly expressed in placenta and heart, followed by brain, skeletal muscle, kidney and pancreas. Weakly expressed in lung and liver.

Evidence on tissue expression from TISSUES for FRZB Gene

  • Spleen(4.5)
  • Pancreas(4.4)
  • Nervous system(4.4)
  • Eye(4.2)
  • Muscle(2.9)
  • Stomach(2.8)
  • Heart(2.7)
  • Kidney(2.6)
  • Blood(2.5)
  • Bone(2.5)
  • Skin(2.5)
  • Intestine(2.5)
  • Lung(2.3)
  • Bone marrow(2.3)
  • Thyroid gland(2.2)
  • Lymph node(2.2)
genes like me logo Genes that share expression patterns with FRZB: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for FRZB Gene

Orthologs for FRZB Gene

This gene was present in the common ancestor of animals.

Orthologs for FRZB Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FRZB 30 31
  • 99.69 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FRZB 30 31
  • 92.41 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Frzb 30 17 31
  • 89.06 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FRZB 31
  • 89 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia FRZB 30 31
  • 88.34 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Frzb 30
  • 87.62 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia FRZB 31
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FRZB 30 31
  • 80.76 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FRZB 31
  • 76 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia frzb 30
  • 72.49 (n)
Str.7018 30
African clawed frog
(Xenopus laevis)
Amphibia Frzb-1 30
Zebrafish
(Danio rerio)
Actinopterygii frzb 30 31
  • 75.61 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6378 30
Fruit Fly
(Drosophila melanogaster)
Insecta fz4 31
  • 12 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea cfz-2 31
  • 16 (a)
ManyToMany
mom-5 31
  • 14 (a)
ManyToMany
Species where no ortholog for FRZB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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 FRZB Gene

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

Paralogs for FRZB Gene

Paralogs for FRZB Gene

(4) SIMAP similar genes for FRZB Gene using alignment to 4 proteins:

  • SFRP3_HUMAN
  • D9ZGF6_HUMAN
  • Q53QN4_HUMAN
  • Q53QT6_HUMAN
genes like me logo Genes that share paralogs with FRZB: view

Variants for FRZB Gene

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

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
719233 Likely Benign: not provided 182,837,942(-) G/T INTRON_VARIANT
774292 Benign: not provided 182,834,921(-) A/G SYNONYMOUS_VARIANT
774293 Benign: not provided 182,834,955(-) A/G MISSENSE_VARIANT
rs1553503725 Uncertain Significance: Osteoarthritis 182,866,270(-) TG/T FRAMESHIFT_VARIANT
rs288326 Risk Factor: Osteoarthritis. - 182,838,608(-) G/Ap.Arg200Trp MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for FRZB Gene

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

Variant ID Type Subtype PubMed ID
esv2759104 CNV gain 17122850
esv34847 CNV gain 17911159
esv3593572 CNV gain 21293372
esv3593574 CNV loss 21293372
esv3593575 CNV loss 21293372
nsv1009882 CNV gain 25217958
nsv818096 CNV gain 17921354

Variation tolerance for FRZB Gene

Residual Variation Intolerance Score: 51.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.12; 84.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FRZB Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for FRZB Gene

MalaCards: The human disease database

(15) MalaCards diseases for FRZB Gene - From: ClinVar, GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
osteoarthritis
  • kashin-beck disease
holzgreve syndrome
  • holzgreve-wagner-rehder syndrome
retinal degeneration
  • degeneration of retina
localized osteosarcoma
  • localised osteogenic sarcoma
epileptic encephalopathy, early infantile, 12
  • eiee12
- elite association - COSMIC cancer census association via MalaCards
Search FRZB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SFRP3_HUMAN
  • Osteoarthritis 1 (OS1) [MIM:165720]: A degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis. Clinical symptoms include pain and joint stiffness often leading to significant disability and joint replacement. {ECO:0000269 PubMed:15210948}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Additional Disease Information for FRZB

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

No data available for Genatlas for FRZB Gene

Publications for FRZB Gene

  1. Frzb-1 is a secreted antagonist of Wnt signaling expressed in the Spemann organizer. (PMID: 9118218) Leyns L … De Robertis EM (Cell 1997) 2 3 4 23
  2. No association of the polymorphisms of the frizzled-related protein gene with peak bone mineral density in Chinese nuclear families. (PMID: 20043861) Gao G … Yu JB (BMC medical genetics 2010) 3 23 41
  3. Genetic variants in frizzled-related protein (FRZB) and the risk of colorectal neoplasia. (PMID: 19067193) Berndt SI … Hayes RB (Cancer causes & control : CCC 2009) 3 23 41
  4. Radiographic osteoarthritis at three joint sites and FRZB, LRP5, and LRP6 polymorphisms in two population-based cohorts. (PMID: 18406176) Kerkhof JM … van Meurs JB (Osteoarthritis and cartilage 2008) 3 23 41
  5. The functional genetic variant Arg324Gly of frizzled-related protein is associated with colorectal cancer risk. (PMID: 17420170) Shanmugam KS … Burwinkel B (Carcinogenesis 2007) 3 23 41

Products for FRZB Gene

  • Signalway ELISA kits for FRZB

Sources for FRZB Gene