FZD5 frizzled class receptor 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FZD5provided by HGNC
Official Full Name: frizzled class receptor 5provided by HGNC
Primary source: HGNC:HGNC:4043
See related: Ensembl:ENSG00000163251 MIM:601723; AllianceGenome:HGNC:4043
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: HFZ5; C2orf31; MCOPCB11
Summary: Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD5 protein is believed to be the receptor for the Wnt5A ligand. [provided by RefSeq, Jul 2008]
Expression: Broad expression in colon (RPKM 15.4), duodenum (RPKM 10.5) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q33.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (207762598..207769906, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (208236810..208244116, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (208627322..208634630, 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?

Exploiting spatiotemporal regulation of FZD5 during neural patterning for efficient ventral midbrain specification.
Title: Exploiting spatiotemporal regulation of FZD5 during neural patterning for efficient ventral midbrain specification.
Insilco prediction of the role of the FriZZled5 gene in colorectal cancer.
Title: Insilco prediction of the role of the FriZZled5 gene in colorectal cancer.
A desert lncRNA HIDEN regulates human endoderm differentiation via interacting with IMP1 and stabilizing FZD5 mRNA.
Title: A desert lncRNA HIDEN regulates human endoderm differentiation via interacting with IMP1 and stabilizing FZD5 mRNA.
Single-Cell Characterization of the Frizzled 5 (Fz5) Mutant Mouse and Human Persistent Fetal Vasculature (PFV).
Title: Single-Cell Characterization of the Frizzled 5 (Fz5) Mutant Mouse and Human Persistent Fetal Vasculature (PFV).
Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.
Title: Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.
Aberrant Cholesterol Metabolism and Wnt/beta-Catenin Signaling Coalesce via Frizzled5 in Supporting Cancer Growth.
Title: Aberrant Cholesterol Metabolism and Wnt/β-Catenin Signaling Coalesce via Frizzled5 in Supporting Cancer Growth.
RNF43 R117fs mutant positively regulates Wnt/beta-catenin signaling by failing to internalize FZD expressed on the cell surface.
Title: RNF43 R117fs mutant positively regulates Wnt/β-catenin signaling by failing to internalize FZD expressed on the cell surface.
Cardiac Wnt5a and Wnt11 promote fibrosis by the crosstalk of FZD5 and EGFR signaling under pressure overload.
Title: Cardiac Wnt5a and Wnt11 promote fibrosis by the crosstalk of FZD5 and EGFR signaling under pressure overload.
WNT7B represses epithelial-mesenchymal transition and stem-like properties in bladder urothelial carcinoma.
Title: WNT7B represses epithelial-mesenchymal transition and stem-like properties in bladder urothelial carcinoma.
FZD5 prevents epithelial-mesenchymal transition in gastric cancer.
Title: FZD5 prevents epithelial-mesenchymal transition in gastric cancer.

Submit: New GeneRIF Correction See all GeneRIFs (41)

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
Microphthalmia/coloboma 11 MedGen: CN376899 OMIM: 620731 GeneReviews: Not available	not available

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

STS-T95625 (e-PCR)
- UniSTS:52811

PMC16008P2 (e-PCR)
- UniSTS:271447

FZD5 (e-PCR)
- UniSTS:278455

STS-U43318 (e-PCR)
- UniSTS:57300

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor activity	IEA Inferred from Electronic Annotation more info
enables Wnt receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables Wnt receptor activity	IC Inferred by Curator more info	PubMed
enables Wnt receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables Wnt receptor activity	TAS Traceable Author Statement more info	PubMed
enables Wnt-protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables Wnt-protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables Wnt-protein binding	TAS Traceable Author Statement more info	PubMed
enables amyloid-beta binding	IPI Inferred from Physical Interaction more info	PubMed
enables amyloid-beta binding	TAS Traceable Author Statement more info	PubMed
enables lipid binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in Spemann organizer formation	IDA Inferred from Direct Assay more info	PubMed
involved_in T cell differentiation in thymus	IEA Inferred from Electronic Annotation more info
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in anterior/posterior axis specification, embryo	IDA Inferred from Direct Assay more info	PubMed
involved_in apoptotic process involved in morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in branching involved in labyrinthine layer morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in canonical Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in canonical Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to molecule of bacterial origin	IDA Inferred from Direct Assay more info	PubMed
involved_in chorionic trophoblast cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in embryonic axis specification	IDA Inferred from Direct Assay more info	PubMed
involved_in embryonic camera-type eye morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in glandular epithelial cell maturation	IEA Inferred from Electronic Annotation more info
involved_in intestinal epithelial cell maturation	IEA Inferred from Electronic Annotation more info
involved_in labyrinthine layer blood vessel development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in neuron differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in non-canonical Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of T cell cytokine production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-1 beta production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein targeting to mitochondrion	HMP more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of tumor necrosis factor production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of type II interferon production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in post-embryonic camera-type eye development	IEA Inferred from Electronic Annotation more info
involved_in regulation of bicellular tight junction assembly	IEA Inferred from Electronic Annotation more info
involved_in regulation of chorionic trophoblast cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in regulation of mitophagy	HMP more info	PubMed
involved_in synapse assembly	TAS Traceable Author Statement more info	PubMed
involved_in syncytiotrophoblast cell differentiation involved in labyrinthine layer development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in axon	IEA Inferred from Electronic Annotation more info
located_in bicellular tight junction	IEA Inferred from Electronic Annotation more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in clathrin-coated endocytic vesicle membrane	TAS Traceable Author Statement more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in early endosome membrane	TAS Traceable Author Statement more info
located_in perikaryon	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: frizzled-5

Names: Wnt receptor; frizzled 5, seven transmembrane spanning receptor; frizzled family receptor 5; fz-5; fzE5; seven-transmembrane receptor frizzled-5

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_050642.2 RefSeqGene

Range

5000..12308

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003468.4 → NP_003459.2 frizzled-5 precursor

See identical proteins and their annotated locations for NP_003459.2

Status: REVIEWED

Source sequence(s)

AC096772

Consensus CDS

CCDS33366.1

UniProtKB/Swiss-Prot

A8K2X1, B2RCZ1, Q13467, Q53R22

Related

ENSP00000354607.3, ENST00000295417.4

Conserved Domains (2) summary

cd07460
Location:29 → 156

CRD_FZ5; Cysteine-rich Wnt-binding domain (CRD) of the frizzled 5 (Fz5) receptor.proteins

cd15249
Location:225 → 535

7tmF_FZD5; class F frizzled subfamily 5, member of 7-transmembrane G protein-coupled receptors