Human Gene FZD2 (ENST00000315323.5) from GENCODE V44
  Description: Homo sapiens frizzled class receptor 2 (FZD2), mRNA. (from RefSeq NM_001466)
RefSeq Summary (NM_001466): This intronless 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. This gene encodes a protein that is coupled to the beta-catenin canonical signaling pathway. Competition between the wingless-type MMTV integration site family, member 3A and wingless-type MMTV integration site family, member 5A gene products for binding of this protein is thought to regulate the beta-catenin-dependent and -independent pathways. [provided by RefSeq, Dec 2010]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Gencode Transcript: ENST00000315323.5
Gencode Gene: ENSG00000180340.7
Transcript (Including UTRs)
   Position: hg38 chr17:44,557,484-44,561,262 Size: 3,779 Total Exon Count: 1 Strand: +
Coding Region
   Position: hg38 chr17:44,557,689-44,559,386 Size: 1,698 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:44,557,484-44,561,262)mRNA (may differ from genome)Protein (565 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FZD2_HUMAN
DESCRIPTION: RecName: Full=Frizzled-2; Short=Fz-2; Short=hFz2; AltName: Full=FzE2; Flags: Precursor;
FUNCTION: Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK- 3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein (By similarity).
TISSUE SPECIFICITY: Widely expressed. In the adult, mainly found in heart, placenta, skeletal muscle, lung, kidney, pancreas, prostate, testis, ovary and colon. In the fetus, expressed in brain, lung and kidney. Low levels in fetal liver.
DOMAIN: Lys-Thr-X-X-X-Trp motif interacts with the PDZ doman of Dvl (Disheveled) family members and is involved in the activation of the Wnt/beta-catenin signaling pathway (By similarity).
DOMAIN: The FZ domain is involved in binding with Wnt ligands (By similarity).
PTM: Ubiquitinated by ZNRF3, leading to its degradation by the proteasome (By similarity).
SIMILARITY: Belongs to the G-protein coupled receptor Fz/Smo family.
SIMILARITY: Contains 1 FZ (frizzled) domain.

-  Primer design for this transcript
 

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-  MalaCards Disease Associations
  MalaCards Gene Search: FZD2
Diseases sorted by gene-association score: omodysplasia 2* (350), omodysplasia (17)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D001564 Benzo(a)pyrene
  • D002251 Carbon Tetrachloride
  • D014212 Tretinoin
  • C517041 (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)
  • D015056 1-Methyl-3-isobutylxanthine
  • C029955 2-nitrotoluene
  • C472791 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
  • C547126 AZM551248
  • D000643 Ammonium Chloride
          more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.14 RPKM in Cells - Cultured fibroblasts
Total median expression: 100.45 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -114.60205-0.559 Picture PostScript Text
3' UTR -585.801876-0.312 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000539 - Frizzled
IPR015526 - Frizzled/SFRP
IPR020067 - Frizzled_dom
IPR026550 - FZD2
IPR017981 - GPCR_2-like

Pfam Domains:
PF01534 - Frizzled/Smoothened family membrane region
PF01392 - Fz domain

ModBase Predicted Comparative 3D Structure on Q14332
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004871 signal transducer activity
GO:0004888 transmembrane signaling receptor activity
GO:0004930 G-protein coupled receptor activity
GO:0005515 protein binding
GO:0017147 Wnt-protein binding
GO:0030165 PDZ domain binding
GO:0042813 Wnt-activated receptor activity

Biological Process:
GO:0003149 membranous septum morphogenesis
GO:0003150 muscular septum morphogenesis
GO:0003151 outflow tract morphogenesis
GO:0007165 signal transduction
GO:0007166 cell surface receptor signaling pathway
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007223 Wnt signaling pathway, calcium modulating pathway
GO:0007267 cell-cell signaling
GO:0007275 multicellular organism development
GO:0007608 sensory perception of smell
GO:0016055 Wnt signaling pathway
GO:0030182 neuron differentiation
GO:0030825 positive regulation of cGMP metabolic process
GO:0030855 epithelial cell differentiation
GO:0035567 non-canonical Wnt signaling pathway
GO:0045893 positive regulation of transcription, DNA-templated
GO:0051091 positive regulation of sequence-specific DNA binding transcription factor activity
GO:0060022 hard palate development
GO:0060070 canonical Wnt signaling pathway
GO:0060071 Wnt signaling pathway, planar cell polarity pathway
GO:0060119 inner ear receptor cell development
GO:0060412 ventricular septum morphogenesis
GO:0090103 cochlea morphogenesis
GO:0090179 planar cell polarity pathway involved in neural tube closure
GO:1904886 beta-catenin destruction complex disassembly

Cellular Component:
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005925 focal adhesion
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030669 clathrin-coated endocytic vesicle membrane


-  Descriptions from all associated GenBank mRNAs
  BC052266 - Homo sapiens frizzled homolog 2 (Drosophila), mRNA (cDNA clone IMAGE:6578442), partial cds.
L37882 - Human frizzled gene product mRNA, complete cds.
JD076309 - Sequence 57333 from Patent EP1572962.
JD478355 - Sequence 459379 from Patent EP1572962.
JD462892 - Sequence 443916 from Patent EP1572962.
JD458238 - Sequence 439262 from Patent EP1572962.
JD404669 - Sequence 385693 from Patent EP1572962.
JD408691 - Sequence 389715 from Patent EP1572962.
BC113402 - Homo sapiens frizzled homolog 2 (Drosophila), mRNA (cDNA clone MGC:141962 IMAGE:8322454), complete cds.
BC113404 - Homo sapiens frizzled homolog 2 (Drosophila), mRNA (cDNA clone MGC:141964 IMAGE:8322456), complete cds.
AB017364 - Homo sapiens mRNA for frizzled-2, complete cds.
AB590852 - Synthetic construct DNA, clone: pFN21AE1989, Homo sapiens FZD2 gene for frizzled homolog 2, without stop codon, in Flexi system.
KJ905198 - Synthetic construct Homo sapiens clone ccsbBroadEn_14650 FZD2 gene, encodes complete protein.
JD318723 - Sequence 299747 from Patent EP1572962.
JD202095 - Sequence 183119 from Patent EP1572962.
JD242591 - Sequence 223615 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04310 - Wnt signaling pathway
hsa04916 - Melanogenesis
hsa05200 - Pathways in cancer
hsa05217 - Basal cell carcinoma

Reactome (by CSHL, EBI, and GO)

Protein Q14332 (Reactome details) participates in the following event(s):

R-HSA-1458875 WNT binds to FZD and LRP5/6
R-HSA-3965446 WNT5A and WNT11 bind FZD receptors to initiate Ca2+ signaling
R-HSA-5140741 WNT5A binds FZD and ROR receptors
R-HSA-201708 Frizzled receptors bind Wnts
R-HSA-5099886 WNT5A binding to FZD promotes PRICKLE1 degradation
R-HSA-1504188 FZD recruits DVL to the receptor complex
R-HSA-201691 Phosphorylation of LRP5/6 cytoplasmic domain by CSNKI
R-NUL-1458902 frog CK1gamma phosphorylates LRP5/6
R-HSA-201677 Phosphorylation of LRP5/6 cytoplasmic domain by membrane-associated GSK3beta
R-HSA-3965441 FZD recruits trimeric G-proteins
R-HSA-3965447 G-protein subunits dissociate from WNT:FZD complex
R-HSA-1504186 DVL recruits GSK3beta:AXIN1 to the receptor complex
R-HSA-3965444 WNT:FZD complex promotes G-protein nucleotide exchange
R-HSA-201681 TCF dependent signaling in response to WNT
R-HSA-4086398 Ca2+ pathway
R-HSA-5140745 WNT5A-dependent internalization of FZD2, FZD5 and ROR2
R-HSA-373080 Class B/2 (Secretin family receptors)
R-HSA-4608870 Asymmetric localization of PCP proteins
R-HSA-4641262 Disassembly of the destruction complex and recruitment of AXIN to the membrane
R-HSA-195721 Signaling by WNT
R-HSA-3858494 Beta-catenin independent WNT signaling
R-HSA-4086400 PCP/CE pathway
R-HSA-500792 GPCR ligand binding
R-HSA-162582 Signal Transduction
R-HSA-372790 Signaling by GPCR

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000315323.1, ENST00000315323.2, ENST00000315323.3, ENST00000315323.4, FZD2_HUMAN, NM_001466, Q0VG82, Q14332, uc002igx.1, uc002igx.2, uc002igx.3, uc002igx.4
UCSC ID: ENST00000315323.5
RefSeq Accession: NM_001466
Protein: Q14332 (aka FZD2_HUMAN)
CCDS: CCDS11484.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.