FRZB (frizzled related protein)

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]
SNPs SNP information provided by dbSNP.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNA miRNA information provided by mirtarbase database.
37
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605083 3959 ENSG00000162998
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 325
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Wnt signaling pathway  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways 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)
Show/Hide Unknown Diseases (4)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
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
Show/Hide Text Mining Associations (114)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 27623992
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 15825175
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 27623992
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 19067193
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 20208569
★★★★★
★☆☆☆☆
Found in Text Mining only
Alveolar rhabdomyosarcoma Alveolar Rhabdomyosarcoma BEFREE 26071485
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 39380021 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 12415580, 28651521
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis Pubtator 28651521 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthropathy Arthropathy BEFREE 25846075
★★★★★
★☆☆☆☆
Found in Text Mining only