FRZB (frizzled related protein)

Gene

• Entrez ID: 2487
• Gene name: Frizzled related protein
• Gene symbol: FRZB
• Synonyms (NCBI Gene): FRE, FRITZ, FRP-3, FRZB-1, FRZB-PEN, FRZB1, FZRB, OS1, SFRP3, SRFP3, hFIZ
• Chromosome: 2
• Chromosome location: 2q32.1
• Summary: 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs7775	G>A,C,T	Risk-factor	Coding sequence variant, missense variant
rs288326	G>A	Risk-factor	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023431	hsa-miR-30b-5p	Sequencing	20371350
MIRT037469	hsa-miR-744-5p	CLASH	23622248
MIRT438841	hsa-miR-451a	qRT-PCR	23294929
MIRT438841	hsa-miR-451a	qRT-PCR	23294929
MIRT736853	hsa-miR-454-3p	Immunofluorescence, qRT-PCR	33820867
MIRT1005392	hsa-miR-1253	CLIP-seq
MIRT1005393	hsa-miR-1976	CLIP-seq
MIRT1005394	hsa-miR-3123	CLIP-seq
MIRT1005395	hsa-miR-3170	CLIP-seq
MIRT1005396	hsa-miR-3919	CLIP-seq
MIRT1005397	hsa-miR-3936	CLIP-seq
MIRT1005398	hsa-miR-4694-3p	CLIP-seq
MIRT1005399	hsa-miR-4738-3p	CLIP-seq
MIRT1005400	hsa-miR-4760-3p	CLIP-seq
MIRT1005401	hsa-miR-4782-5p	CLIP-seq
MIRT1005402	hsa-miR-522	CLIP-seq
MIRT1005403	hsa-miR-549	CLIP-seq
MIRT1005404	hsa-miR-579	CLIP-seq
MIRT1005405	hsa-miR-664	CLIP-seq
MIRT2449914	hsa-miR-33a	CLIP-seq
MIRT2449915	hsa-miR-33b	CLIP-seq
MIRT2449916	hsa-miR-3940-5p	CLIP-seq
MIRT2449917	hsa-miR-4507	CLIP-seq
MIRT2449918	hsa-miR-4793-5p	CLIP-seq
MIRT2449919	hsa-miR-586	CLIP-seq
MIRT2449914	hsa-miR-33a	CLIP-seq
MIRT2449915	hsa-miR-33b	CLIP-seq
MIRT2449916	hsa-miR-3940-5p	CLIP-seq
MIRT2449917	hsa-miR-4507	CLIP-seq
MIRT2449918	hsa-miR-4793-5p	CLIP-seq
MIRT2449919	hsa-miR-586	CLIP-seq
MIRT2449914	hsa-miR-33a	CLIP-seq
MIRT2449915	hsa-miR-33b	CLIP-seq
MIRT2449916	hsa-miR-3940-5p	CLIP-seq
MIRT2449917	hsa-miR-4507	CLIP-seq
MIRT2449918	hsa-miR-4793-5p	CLIP-seq
MIRT2449919	hsa-miR-586	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IEA
GO:0001501	Process	Skeletal system development	TAS	8824257
GO:0002064	Process	Epithelial cell development	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	HDA	20551380
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	ISS
GO:0005737	Component	Cytoplasm	IBA
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	20208569
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0010721	Process	Negative regulation of cell development	IEA
GO:0014033	Process	Neural crest cell differentiation	IEA
GO:0016020	Component	Membrane	TAS	8824257
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0017147	Function	Wnt-protein binding	IBA
GO:0017147	Function	Wnt-protein binding	IEA
GO:0017147	Function	Wnt-protein binding	ISS
GO:0017147	Function	Wnt-protein binding	NAS	24431302
GO:0030154	Process	Cell differentiation	IEA
GO:0030178	Process	Negative regulation of Wnt signaling pathway	IDA	20208569
GO:0030178	Process	Negative regulation of Wnt signaling pathway	IEA
GO:0030178	Process	Negative regulation of Wnt signaling pathway	ISS
GO:0030178	Process	Negative regulation of Wnt signaling pathway	NAS	24431302
GO:0030308	Process	Negative regulation of cell growth	IDA	20208569
GO:0035567	Process	Non-canonical Wnt signaling pathway	IBA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IGI	18166153
GO:0045595	Process	Regulation of cell differentiation	IEA
GO:0045600	Process	Positive regulation of fat cell differentiation	IDA	12055200
GO:0060029	Process	Convergent extension involved in organogenesis	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IBA
GO:0061037	Process	Negative regulation of cartilage development	IEA
GO:0061053	Process	Somite development	IEA
GO:0070365	Process	Hepatocyte differentiation	IEA
GO:0070367	Process	Negative regulation of hepatocyte differentiation	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IDA	17471511
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IEA
GO:0090103	Process	Cochlea morphogenesis	IEA

Other IDs

• MIM: 605083
• HGNC: 3959
• e!Ensembl: ENSG00000162998

Protein

• UniProt ID: Q92765
• Protein name: Secreted frizzled-related protein 3 (sFRP-3) (Frezzled) (Fritz) (Frizzled-related protein 1) (FrzB-1)
• Protein 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 l
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01392	Fz	35 → 144	Fz domain	Domain
  PF01759	NTR	188 → 291	UNC-6/NTR/C345C module	Domain

• Tissue specificity: 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:

  MVCGSPGGMLLLRAGLLALAALCLLRVPGARAAACEPVRIPLCKSLPWNMTKMPNHLHHS
  TQANAILAIEQFEGLLGTHCSPDLLFFLCAMYAPICTIDFQHEPIKPCKSVCERARQGCE
  PILIKYRHSWPENLACEELPVYDRGVCISPEAIVTADGADFPMDSSNGNCRGASSERCKC
  KPIRATQKTYFRNNYNYVIRAKVKEIKTKCHDVTAVVEVKEILKSSLVNIPRDTVNLYTS
  SGCLCPPLNVNEEYIIMGYEDEERSRLLLVEGSIAEKWKDRLGKKVKRWDMKLRHLGLSK
  SDSSNSDSTQSQKSGRNSNPRQARN

• Sequence length: 325

Pathways

KEGG:

Wnt signaling pathway

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
DEGENERATIVE POLYARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRZB-related disorder	Benign; risk factor; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis	Uncertain significance	ClinVar CTD	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Osteoarthritis susceptibility 1	Benign; risk factor	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Adenocarcinoma of Lung	Associate	27623992	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Associate	39380021	★☆☆☆☆ Found in Text Mining only
Arthritis	Associate	28651521	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Associate	27035837	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Associate	36295481	★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Associate	39191728	★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Associate	34962102	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Associate	39191728	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Associate	18612013	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	17897439, 23516639, 23873310, 32990024, 37963835	★☆☆☆☆ Found in Text Mining only
Calcinosis Cutis	Associate	24700717	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Associate	26397159	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	24591760, 26722540	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Inhibit	27623992	★☆☆☆☆ Found in Text Mining only
Carcinoma Non Small Cell Lung	Inhibit	27623992	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Associate	23572277	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Associate	36863704	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Associate	37015819	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Associate	30235453	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Associate	26097596	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	17131472, 19067193, 28772260, 30368728, 31027226, 38151510	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Stimulate	26097596	★☆☆☆☆ Found in Text Mining only
Death Sudden	Associate	26288364	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Associate	23040494	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Associate	32805208	★☆☆☆☆ Found in Text Mining only
Glaucoma Angle Closure	Associate	23378726	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Associate	27035837, 29200599	★☆☆☆☆ Found in Text Mining only
Heart Failure	Associate	26288364, 36295481	★☆☆☆☆ Found in Text Mining only
Hip Injuries	Associate	15818669, 17237116, 17600823	★☆☆☆☆ Found in Text Mining only
Hypertension Portal	Associate	34962102	★☆☆☆☆ Found in Text Mining only
Hypothyroidism Congenital Nongoitrous 2	Associate	20976176	★☆☆☆☆ Found in Text Mining only
Inflammation	Associate	18612013	★☆☆☆☆ Found in Text Mining only
Inflammation	Inhibit	30947534	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Associate	35409356	★☆☆☆☆ Found in Text Mining only
Kashin Beck Disease	Associate	28651521	★☆☆☆☆ Found in Text Mining only
Keratoconus	Associate	23825088	★☆☆☆☆ Found in Text Mining only
Leukemia Plasma Cell	Associate	11468178	★☆☆☆☆ Found in Text Mining only
Limb girdle muscular dystrophy type 2A	Associate	19015733	★☆☆☆☆ Found in Text Mining only
Melanoma	Inhibit	21494614, 27623992	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Associate	11468178, 21173094	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Associate	26288364	★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Stimulate	26097596, 26722540	★☆☆☆☆ Found in Text Mining only
Neoplasms	Inhibit	15858124, 23572277, 27623992, 29933019	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	19067193, 27035837, 32293507	★☆☆☆☆ Found in Text Mining only
Neovascularization Pathologic	Associate	38087190	★☆☆☆☆ Found in Text Mining only
Obesity	Associate	24058506	★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Associate	26561393	★☆☆☆☆ Found in Text Mining only
Ossification Heterotopic	Associate	17600823	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Associate	15818669, 16572458, 16889986, 17237116, 21400473, 22544526, 24361742, 24716474, 25054223, 27428952, 30947534, 34730803	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Osteoarthritis Hip	Associate	15210948, 16572458, 17195216, 17237116, 22544526	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Associate	17195216	★☆☆☆☆ Found in Text Mining only
Osteolysis	Associate	17600823	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Inhibit	29933019	★☆☆☆☆ Found in Text Mining only
Otofaciocervical Syndrome	Associate	26561393	★☆☆☆☆ Found in Text Mining only
Periprosthetic Fractures	Associate	18612013	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Associate	19277043	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Associate	30111857	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Inhibit	15858124	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Associate	27623992	★☆☆☆☆ Found in Text Mining only
Stroke	Associate	26288364	★☆☆☆☆ Found in Text Mining only
Thyroiditis	Associate	20976176	★☆☆☆☆ Found in Text Mining only
Tuberculosis Multidrug Resistant	Inhibit	39796265	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Associate	14968126, 20808801	★☆☆☆☆ Found in Text Mining only