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FRZB frizzled related protein [ Homo sapiens (human) ]

Gene ID: 2487, updated on 13-Mar-2020

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
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

Genomic context

See FRZB in Genome Data Viewer
Location:
2q32.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (182833275..182866637, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (183698002..183731498, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929976 Neighboring gene DnaJ heat shock protein family (Hsp40) member C10 Neighboring gene ribosomal protein L31 pseudogene 15 Neighboring gene RNA, U6 small nuclear 1122, pseudogene Neighboring gene NCK associated protein 1

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
MedGen: C3887876 OMIM: 165720 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

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_017197.1 RefSeqGene

    Range
    5134..38497
    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
    Q92765
    UniProtKB/TrEMBL
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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