Free for academic non-profit institutions. Other users need a Commercial license

Aliases for FRZB Gene

Aliases for FRZB Gene

  • Frizzled-Related Protein 2 3 5
  • Secreted Frizzled-Related Protein 3 2 3
  • Frizzled-Related Protein 1 3 4
  • Frezzled 3 4
  • FRZB-1 3 4
  • SFRP-3 3 4
  • FRITZ 3 4
  • FRZB1 3 4
  • SFRP3 3 4
  • FRE 3 4
  • Frizzled Homolog-Related 3
  • FRZB-PEN 3
  • FRP-3 3
  • SRFP3 3
  • FZRB 3
  • HFIZ 3
  • 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 1 and Osteoarthritis. Among its related pathways are Endochondral Ossification and Adipogenesis. 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 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 , fRNAdb sequence ontologies and piRNA Summary for FRZB Gene

Genomics for FRZB Gene

Regulatory Elements for FRZB Gene

Enhancers for FRZB 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
GH02G182889 0.9 ENCODE 31.6 -24.0 -23951 2.4 HNRNPUL1 PKNOX1 ATF1 FEZF1 SCRT2 CREM THAP11 CEBPB PPARG ZNF843 FRZB RNU6-1122P GC02M182883
GH02G182866 0.8 ENCODE 21.9 -0.2 -188 2.7 ELF3 RING1 SAP130 SUZ12 ZFP64 MAX ZNF384 ZIC2 GATA2 ZNF600 FRZB DUSP19 GC02P182874
GH02G182906 0.7 ENCODE 17.9 -40.3 -40274 1.0 ZNF263 ZBTB2 ZFP37 DPF2 OSR2 ZSCAN21 POLR2A SMARCA4 ZNF580 NFE2 FRZB NCKAP1 GC02M182883 RNU6-1122P
GH02G183010 1.2 Ensembl ENCODE 8.9 -143.4 -143372 0.9 ATF1 ARNT FEZF1 TCF12 GATA2 ZNF592 SMARCA4 NBN HMBOX1 KDM1A FRZB GC02M183023 ENSG00000202141 GC02M182883
GH02G183034 1.1 ENCODE 9.6 -170.0 -170006 4.8 HDGF PKNOX1 AGO1 ZFP64 ARID4B SIN3A YY1 ZNF766 CBX5 ZNF143 FRZB NCKAP1 GC02M183023 ENSG00000202141
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FRZB on UCSC Golden Path with GeneCards custom track

Promoters for FRZB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000127352 262 601 CTCF SAP130 RNF2 ZFP64 ZIC2 RAD21 GATA2 ZNF341 ZNF600 PCBP1

Genomic Location for FRZB Gene

Chromosome:
2
Start:
182,833,275 bp from pter
End:
182,867,162 bp from pter
Size:
33,888 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

Other Protein References for FRZB Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for FRZB
  • Santa Cruz Biotechnology (SCBT) Antibodies for FRZB

Protein Products

  • Abcam proteins for FRZB

Assay Products

  • Cloud-Clone Corp. Assay Kits for FRZB

No data available for DME Specific Peptides for FRZB Gene

Domains & Families for FRZB Gene

Gene Families for FRZB Gene

Suggested Antigen Peptide Sequences for FRZB Gene

GenScript: Design optimal peptide antigens:

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

GENATLAS Biochemistry:
Drosophila frizzled polarity homolog,secreted related protein 3,mouse sfrp 3 homolog,likely involved in WNT binding and signal transduction
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.

LifeMap Function Summary for FRZB Gene

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

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 NAS 24431302
genes like me logo Genes that share ontologies with FRZB: view
genes like me logo Genes that share phenotypes with FRZB: view

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

miRTarBase miRNAs that target FRZB

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for FRZB

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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 5
plasma membrane 3
nucleus 2
endoplasmic reticulum 2
cytoskeleton 1
cytosol 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 ISS 22261194
GO:0016020 membrane TAS 8824257
genes like me logo Genes that share ontologies with FRZB: view

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

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 :
(7) Additional mRNA sequences :
(270) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FRZB Gene

Frizzled-related protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones 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
ECgene alternative splicing isoforms for
FRZB

Expression for FRZB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for FRZB Gene



NURSA nuclear receptor signaling pathways regulating expression of FRZB Gene:

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

  • Pancreas(4.3)
  • Spleen(4.3)
  • Nervous system(4.1)
  • Eye(4)
  • Muscle(2.3)
genes like me logo Genes that share expression patterns with FRZB: view

Primer Products

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 34 35
  • 99.69 (n)
cow
(Bos Taurus)
Mammalia FRZB 34 35
  • 92.41 (n)
mouse
(Mus musculus)
Mammalia Frzb 34 16 35
  • 89.06 (n)
oppossum
(Monodelphis domestica)
Mammalia FRZB 35
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FRZB 34 35
  • 88.34 (n)
rat
(Rattus norvegicus)
Mammalia Frzb 34
  • 87.62 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FRZB 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves FRZB 34 35
  • 80.76 (n)
lizard
(Anolis carolinensis)
Reptilia FRZB 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia frzb 34
  • 72.49 (n)
Str.7018 34
African clawed frog
(Xenopus laevis)
Amphibia Frzb-1 34
zebrafish
(Danio rerio)
Actinopterygii frzb 34 35
  • 75.61 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6378 34
fruit fly
(Drosophila melanogaster)
Insecta fz4 35
  • 12 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cfz-2 35
  • 16 (a)
ManyToMany
mom-5 35
  • 14 (a)
ManyToMany
Species where no ortholog for FRZB 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)
  • 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 FRZB Gene

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

Paralogs for FRZB Gene

Paralogs for FRZB Gene

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

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

Variants for FRZB Gene

Sequence variations from dbSNP and Humsavar for FRZB Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs7775 other, Osteoarthritis 1 (OS1) [MIM:165720] 182,834,857(-) AAGCA(A/C/G/T)GCAAC reference, missense
rs288326 other 182,838,608(+) AGCCC(A/G)AATGA reference, missense
rs1000005869 -- 182,864,390(+) TCTAA(A/G)TGCCT intron-variant
rs1000021508 -- 182,856,574(+) TCTAC(A/T)AGAAA intron-variant
rs1000077816 -- 182,850,267(+) ACAAG(C/T)AGATT intron-variant

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)

Relevant External Links for FRZB Gene

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

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

Disorders for FRZB Gene

MalaCards: The human disease database

(5) MalaCards diseases for FRZB Gene - From: OMIM, ClinVar, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
osteoarthritis 1
  • oa
osteoarthritis
  • arthropathy
osteoarthritis-5
  • osteoarthritis 5
osgood-schlatter's disease
  • osteochondrosis
esophageal basaloid squamous cell carcinoma
  • basaloid squamous carcinoma of esophagus
- 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.

Relevant External Links for FRZB

Genetic Association Database (GAD)
FRZB
Human Genome Epidemiology (HuGE) Navigator
FRZB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FRZB
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 E.M. (Cell 1997) 2 3 4 22 64
  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 J.B. (BMC Med. Genet. 2010) 3 22 46 64
  3. Genetic variants in frizzled-related protein (FRZB) and the risk of colorectal neoplasia. (PMID: 19067193) Berndt S.I. … Hayes R.B. (Cancer Causes Control 2009) 3 22 46 64
  4. Radiographic osteoarthritis at three joint sites and FRZB, LRP5, and LRP6 polymorphisms in two population-based cohorts. (PMID: 18406176) Kerkhof J.M. … van Meurs J.B. (Osteoarthr. Cartil. 2008) 3 22 46 64
  5. Further evidence of the role of frizzled-related protein gene polymorphisms in osteoarthritis. (PMID: 17237116) Rodriguez-Lopez J. … Gonzalez A. (Ann. Rheum. Dis. 2007) 3 22 46 64

Products for FRZB Gene

Sources for FRZB Gene

Content
Loading form....