FRZB frizzled related protein [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Exploring the predictive values of SERP4 and FRZB in dilated cardiomyopathy based on an integrated analysis.
Title: Exploring the predictive values of SERP4 and FRZB in dilated cardiomyopathy based on an integrated analysis.
WTAP-mediated m[6]A modification of FRZB triggers the inflammatory response via the Wnt signaling pathway in osteoarthritis.
Title: WTAP-mediated m(6)A modification of FRZB triggers the inflammatory response via the Wnt signaling pathway in osteoarthritis.
FRZB is Regulated by the Transcription Factor EGR1 and Inhibits the Growth and Invasion of Triple-Negative Breast Cancer Cells by Regulating the JAK/STAT3 Pathway.
Title: FRZB is Regulated by the Transcription Factor EGR1 and Inhibits the Growth and Invasion of Triple-Negative Breast Cancer Cells by Regulating the JAK/STAT3 Pathway.
Long non-coding RNA expression profiling of subchondral bone reveals AC005165.1 modifying FRZB expression during osteoarthritis.
Title: Long non-coding RNA expression profiling of subchondral bone reveals AC005165.1 modifying FRZB expression during osteoarthritis.
The Expressions of Dickkopf-Related Protein 1 and Frizzled-Related Protein Are Negatively Correlated to Local Inflammation and Osteoarthritis Severity.
Title: The Expressions of Dickkopf-Related Protein 1 and Frizzled-Related Protein Are Negatively Correlated to Local Inflammation and Osteoarthritis Severity.
FRZB as a key molecule in abdominal aortic aneurysm progression affecting vascular integrity.
Title: FRZB as a key molecule in abdominal aortic aneurysm progression affecting vascular integrity.
Secreted frizzled-related protein 3 was genetically and functionally associated with developmental dysplasia of the hip.
Title: Secreted frizzled-related protein 3 was genetically and functionally associated with developmental dysplasia of the hip.
Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels.
Title: Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels.
Our data suggest there might be differential genetic influence on skeletal fluorosis risk in Kazakh and Tibetan participants and that this difference might be modified by tea fluoride intake.
Title: FRZB1 rs2242070 polymorphisms is associated with brick tea type skeletal fluorosis in Kazakhs, but not in Tibetans, China.
active involvement in placental development and important role in pathology of pregnancy
Title: Negative regulators of Wnt signaling pathway SFRP1 and SFRP3 expression in preterm and term pathologic placentas.

Submit: New GeneRIF Correction See all GeneRIFs (54)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-143852 (e-PCR)
- UniSTS:172064

G20632 (e-PCR)
- UniSTS:47455

A005Z38 (e-PCR)
- UniSTS:47456

D2S2906 (e-PCR)
- UniSTS:51352

WI-11019 (e-PCR)
- UniSTS:51353

RH12577 (e-PCR)
- UniSTS:40694

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 more info	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

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Preferred Names: secreted frizzled-related protein 3

Names: frezzled; frizzled homolog-related; frizzled-related protein 1; sFRP-3

NCBI Reference Sequences (RefSeq)

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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

NG_017197.2 RefSeqGene

Range

5000..38362

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001463.4 → NP_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:32 → 157

CRD_SFRP3; Cysteine-rich domain of the secreted frizzled-related protein 3 (SFRP3, alias FRZB), a Wnt antagonist

cd03581
Location:188 → 297

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 ...