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    FRZB frizzled related protein [ Homo sapiens (human) ]

    Gene ID: 2487, updated on 9-Dec-2024

    Summary

    Official Symbol
    FRZBprovided by HGNC
    Official Full Name
    frizzled related proteinprovided by HGNC
    Primary source
    HGNC:HGNC:3959
    See related
    Ensembl:ENSG00000162998 MIM:605083; AllianceGenome:HGNC:3959
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FRE; OS1; FZRB; hFIZ; FRITZ; FRP-3; FRZB1; SFRP3; SRFP3; FRZB-1; FRZB-PEN
    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]
    Expression
    Broad expression in spleen (RPKM 48.5), gall bladder (RPKM 25.9) and 20 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See FRZB in Genome Data Viewer
    Location:
    2q32.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (182833275..182866637, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (183322235..183355596, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (183698002..183731365, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene phosphodiesterase 1A Neighboring gene uncharacterized LOC101929976 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16836 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16837 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:183581051-183581655 Neighboring gene DnaJ heat shock protein family (Hsp40) member C10 Neighboring gene MPRA-validated peak3967 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:183683314-183684194 Neighboring gene ribosomal protein L31 pseudogene 15 Neighboring gene uncharacterized LOC124907916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:183730528-183731496 Neighboring gene RNA, U6 small nuclear 1122, pseudogene Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:183771671-183772172 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:183814331-183814830 Neighboring gene NCK associated protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12162 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:183903107-183903758

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Osteoarthritis susceptibility 1
    MedGen: C3887876 OMIM: 165720 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables Wnt-protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables Wnt-protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables Wnt-protein binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in canonical Wnt signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cochlea morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in convergent extension involved in organogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epithelial cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hepatocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of Wnt signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of Wnt signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cell growth IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of hepatocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neural crest cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in non-canonical Wnt signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within positive regulation of apoptotic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of fat cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in skeletal system development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in somite development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular space HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in membrane TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    secreted frizzled-related protein 3
    Names
    frezzled
    frizzled homolog-related
    frizzled-related protein 1
    sFRP-3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_017197.2 RefSeqGene

      Range
      5000..38362
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001463.4NP_001454.2  secreted frizzled-related protein 3 precursor

      See identical proteins and their annotated locations for NP_001454.2

      Status: REVIEWED

      Source sequence(s)
      AC105396, AU117730, BE549700, BF058813, U24163, U91903
      Consensus CDS
      CCDS2286.1
      UniProtKB/Swiss-Prot
      O00181, Q92765, Q99686
      UniProtKB/TrEMBL
      B2R6W4, D9ZGF6
      Related
      ENSP00000295113.4, ENST00000295113.5
      Conserved Domains (2) summary
      cd07441
      Location:32157
      CRD_SFRP3; Cysteine-rich domain of the secreted frizzled-related protein 3 (SFRP3, alias FRZB), a Wnt antagonist
      cd03581
      Location:188297
      NTR_Sfrp3_like; NTR domain, Secreted frizzled-related protein (Sfrp) 3-like subfamily; composed of proteins similar to human Sfrp3 and Sfrp4. Sfrps are soluble proteins containing an NTR domain C-terminal to a cysteine-rich Frizzled domain. They show diverse functions ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      182833275..182866637 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      183322235..183355596 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)