• Gene id: 2487

Gene Summary

• Gene Symbol: FRZB   Gene   UCSC   Ensembl
• Aliases: FRE, FRITZ, FRP-3, FRZB-1, FRZB-PEN, FRZB1, FZRB, OS1, SFRP3, SRFP3, hFIZ
• Gene name: frizzled related protein
• Alternate names: secreted frizzled-related protein 3, frezzled, frizzled homolog-related, frizzled-related protein 1, sFRP-3,
• Gene location: 2q32.1 (95291005: 95237568)     Exons: 7     NC_000010.11
• Gene summary(Entrez): 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]
• OMIM: 605083

Protein Summary

• Protein general information: Q92765  
  • Name: Secreted frizzled related protein 3 (sFRP 3) (Frezzled) (Fritz) (Frizzled related protein 1) (FrzB 1)
  • Length: 325  
  • Mass: 36254
  • 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 tars
• Sequence:

  MVCGSPGGMLLLRAGLLALAALCLLRVPGARAAACEPVRIPLCKSLPWNMTKMPNHLHHSTQANAILAIEQFEGL
  LGTHCSPDLLFFLCAMYAPICTIDFQHEPIKPCKSVCERARQGCEPILIKYRHSWPENLACEELPVYDRGVCISP
  EAIVTADGADFPMDSSNGNCRGASSERCKCKPIRATQKTYFRNNYNYVIRAKVKEIKTKCHDVTAVVEVKEILKS
  SLVNIPRDTVNLYTSSGCLCPPLNVNEEYIIMGYEDEERSRLLLVEGSIAEKWKDRLGKKVKRWDMKLRHLGLSK
  SDSSNSDSTQSQKSGRNSNPRQARN

• Structural information:
  • Protein Domains: (33..15-)
    (/note="FZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00090-)
    (178..29-)
    (/note="NTR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00295"-)
  • Interpro: IPR015526  IPR020067  IPR036790  IPR001134  IPR018933   IPR035813  IPR026556  IPR041759  IPR008993  
  • Prosite: PS50038 PS50189
  • CDD: cd07441 cd03581
  • STRING: ENSP00000295113
• Other Databases: GeneCards:  FRZB  Malacards:  FRZB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017147	Wnt-protein binding	NAS	molecular function
GO:0030178	negative regulation of Wnt signaling pathway	NAS	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0090090	negative regulation of canonical Wnt signaling pathway	IBA	biological process
GO:0060070	canonical Wnt signaling pathway	IBA	biological process
GO:0017147	Wnt-protein binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0016020	membrane	TAS	cellular component
GO:0001501	skeletal system development	TAS	biological process
GO:0045600	positive regulation of fat cell differentiation	IDA	biological process
GO:0043065	positive regulation of apoptotic process	IGI	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0014033	neural crest cell differentiation	IEA	biological process
GO:0042472	inner ear morphogenesis	IEA	biological process
GO:0060029	convergent extension involved in organogenesis	IEA	biological process
GO:0061053	somite development	IEA	biological process
GO:0010721	negative regulation of cell development	IEA	biological process
GO:0017147	Wnt-protein binding	IEA	molecular function
GO:0030178	negative regulation of Wnt signaling pathway	IEA	biological process
GO:0061037	negative regulation of cartilage development	IEA	biological process
GO:0070367	negative regulation of hepatocyte differentiation	IEA	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	IEA	biological process
GO:0090103	cochlea morphogenesis	IEA	biological process
GO:0005615	extracellular space	ISS	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0090090	negative regulation of canonical Wnt signaling pathway	IDA	biological process
GO:0030178	negative regulation of Wnt signaling pathway	IDA	biological process
GO:0030308	negative regulation of cell growth	IDA	biological process
GO:0008285	negative regulation of cell population proliferation	IDA	biological process
GO:0030178	negative regulation of Wnt signaling pathway	ISS	biological process
GO:0017147	Wnt-protein binding	ISS	molecular function

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)