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    FZD4 frizzled class receptor 4 [ Homo sapiens (human) ]

    Gene ID: 8322, updated on 28-Oct-2024

    Summary

    Official Symbol
    FZD4provided by HGNC
    Official Full Name
    frizzled class receptor 4provided by HGNC
    Primary source
    HGNC:HGNC:4042
    See related
    Ensembl:ENSG00000174804 MIM:604579; AllianceGenome:HGNC:4042
    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
    Fz4; EVR1; FEVR; Fz-4; FzE4; GPCR; hFz4; CD344; FZD4S
    Summary
    This gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. This protein may play a role as a positive regulator of the Wingless type MMTV integration site signaling pathway. A transcript variant retaining intronic sequence and encoding a shorter isoform has been described, however, its expression is not supported by other experimental evidence. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in fat (RPKM 98.6), kidney (RPKM 18.6) and 14 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FZD4 in Genome Data Viewer
    Location:
    11q14.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (86945679..86955395, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (86886525..86896237, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (86656721..86666437, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene serine protease 23 Neighboring gene olfactory receptor family 7 subfamily E member 2 pseudogene Neighboring gene PRSS23 antisense RNA 1 Neighboring gene MPRA-validated peak1380 silencer Neighboring gene Sharpr-MPRA regulatory region 12486 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:86651451-86651950 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3828 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3829 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3830 Neighboring gene FZD4 divergent transcript Neighboring gene uncharacterized LOC105369422 Neighboring gene heterogeneous nuclear ribonucleoprotein C pseudogene 8

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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
    Exudative vitreoretinopathy 1
    MedGen: C1851402 OMIM: 133780 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2023-01-25)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2023-01-25)

    ClinGen Genome Curation Page

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of frizzled family receptor 4 (FZD4) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC34390

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein-coupled receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables PDZ domain binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables PDZ domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables Wnt receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables Wnt receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables Wnt-protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables Wnt-protein binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables amyloid-beta binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables cytokine binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables cytokine receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 Norrin signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in Wnt signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in Wnt signaling pathway, calcium modulating pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in angiogenesis 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 TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to leukemia inhibitory factor IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to retinoic acid ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cerebellum vasculature morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cytokine-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endothelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of blood-brain barrier IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in extracellular matrix-cell signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in locomotion involved in locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cell-substrate adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 non-canonical Wnt signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of dendrite morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of neuron projection arborization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in progesterone secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of vascular endothelial growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retina vasculature morphogenesis in camera-type eye IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in retina vasculature morphogenesis in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in retinal blood vessel morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in substrate adhesion-dependent cell spreading IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vasculogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell-cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in clathrin-coated endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    located_in dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in glutamatergic synapse 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 IC
    Inferred by Curator
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    frizzled-4
    Names
    WNT receptor frizzled-4
    frizzled 4, seven transmembrane spanning receptor
    frizzled family receptor 4
    frizzled homolog 4

    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_011752.2 RefSeqGene

      Range
      5000..14716
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_012193.4NP_036325.2  frizzled-4 precursor

      See identical proteins and their annotated locations for NP_036325.2

      Status: REVIEWED

      Source sequence(s)
      AP001528
      Consensus CDS
      CCDS8279.1
      UniProtKB/Swiss-Prot
      A8K9Q3, Q14C97, Q6S9E4, Q9ULV1
      UniProtKB/TrEMBL
      Q8TDT8
      Related
      ENSP00000434034.1, ENST00000531380.2
      Conserved Domains (2) summary
      cd07448
      Location:42167
      CRD_FZ4; Cysteine-rich Wnt-binding domain of the frizzled 4 (Fz4) receptor
      cd15038
      Location:209509
      7tmF_FZD4; class F frizzled subfamily 4, member of 7-transmembrane G protein-coupled receptors

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      86945679..86955395 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      86886525..86896237 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)