Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2487
Gene name	Frizzled related protein
Gene symbol	FRZB
Synonyms (NCBI Gene)	FREFRITZFRP-3FRZB-1FRZB-PENFRZB1FZRBOS1SFRP3SRFP3hFIZ
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]

Show/Hide all (2)

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

Show/Hide all (37)

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	ImmunofluorescenceqRT-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

Show/Hide all (41)

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

MIM	HGNC	e!Ensembl
605083	3959	ENSG00000162998

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

Interactions

View interactions

	KEGG
	Wnt signaling pathway

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
FRZB-related disorder	Benign; risk factor; Likely benign	rs7775, rs288326, rs144510376, rs139802041, rs541564082	RCV003964794 RCV003964795 RCV003931535 RCV003914512 RCV003924707
Osteoarthritis	Uncertain significance	rs1553503725	RCV000626077
Osteoarthritis susceptibility 1	Benign; risk factor	rs7775, rs288326	RCV004576877 RCV004576878

Show/Hide Text Mining Associations (63)

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

FRZB (frizzled related protein)