FZD2
Frizzled-2
Also known as: FZD2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q14332
- Gene
- FZD2
- Ensembl
- ENSG00000180340
- Chromosome
- 17
- Canonical length
- 565 aa
- Protein class
- Cancer-related genes, Disease related genes, G-protein coupled receptors, Human disease related genes, Potential drug targets, Predicted membrane proteins
- Subcellular location
- Nucleoplasm,Nuclear bodies,Cell Junctions,Actin filaments,Basal body
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
565 residues, UniProt reviewed canonical sequence.
>Q14332|FZD2
1 MRPRSALPRL LLPLLLLPAA GPAQFHGEKG ISIPDHGFCQ PISIPLCTDI AYNQTIMPNL
61 LGHTNQEDAG LEVHQFYPLV KVQCSPELRF FLCSMYAPVC TVLEQAIPPC RSICERARQG
121 CEALMNKFGF QWPERLRCEH FPRHGAEQIC VGQNHSEDGA PALLTTAPPP GLQPGAGGTP
181 GGPGGGGAPP RYATLEHPFH CPRVLKVPSY LSYKFLGERD CAAPCEPARP DGSMFFSQEE
241 TRFARLWILT WSVLCCASTF FTVTTYLVDM QRFRYPERPI IFLSGCYTMV SVAYIAGFVL
301 QERVVCNERF SEDGYRTVVQ GTKKEGCTIL FMMLYFFSMA SSIWWVILSL TWFLAAGMKW
361 GHEAIEANSQ YFHLAAWAVP AVKTITILAM GQIDGDLLSG VCFVGLNSLD PLRGFVLAPL
421 FVYLFIGTSF LLAGFVSLFR IRTIMKHDGT KTEKLERLMV RIGVFSVLYT VPATIVIACY
481 FYEQAFREHW ERSWVSQHCK SLAIPCPAHY TPRMSPDFTV YMIKYLMTLI VGITSGFWIW
541 SGKTLHSWRK FYTRLTNSRH GETTVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against FZD2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 7
- Mean surface accessibility (rSASA)
- 0.33
- Highest tissue expression
- 9.4 nTPM
Expression across tissuesHPA
Tissue
- blood vessel: 9.4 nTPM
- choroid plexus: 8.9 nTPM
- cervix: 4.6 nTPM
- endometrium: 3.8 nTPM
- basal ganglia: 3.4 nTPM
- placenta: 3.4 nTPM
Single-cell type
- leydig cells: 45 nCPM
- peritubular myoid cells: 35 nCPM
- alveolar cells type 1: 29 nCPM
- podocytes: 17 nCPM
- microglia: 14 nCPM
- monocyte progenitors: 13 nCPM
Immune cell
- myeloid DC: 1.8 nTPM
- classical monocyte: 1.1 nTPM
- plasmacytoid DC: 0.9 nTPM
- memory CD8 T-cell: 0.2 nTPM
- total PBMC: 0.2 nTPM
- intermediate monocyte: 0.1 nTPM
Brain region
- choroid plexus: 21 nTPM
- pons: 3.7 nTPM
- midbrain: 3.5 nTPM
- white matter: 2.8 nTPM
- thalamus: 2.6 nTPM
- basal ganglia: 2.5 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about FZD2.
Disease | AllUniProt
Conditions FZD2 is implicated in, by any mechanism.
- Omodysplasia 2 (OMOD2) MIM:164745
Disease | GeneticClinVar
9 pathogenic / likely-pathogenic of 238 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Autosomal dominant Robinow syndrome 2
- Autosomal dominant Robinow syndrome 1
- Autosomal dominant omodysplasia
- Autosomal dominant Robinow syndrome 3
- Short stature
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.47
- gnomAD pLI
- 0.65
- gnomAD missense Z
- 3.67
- DepMap mean gene effect
- -0.07
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- canonical Wnt signaling pathway
- cell-cell signaling
- cochlea morphogenesis
- endothelial cell differentiation
- hard palate development
- inner ear receptor cell development
- membranous septum morphogenesis
- muscular septum morphogenesis
- neuron differentiation
- non-canonical Wnt signaling pathway
- outflow tract morphogenesis
- positive regulation of DNA-templated transcription
- sensory perception of smell
- Wnt signaling pathway
- Wnt signaling pathway, planar cell polarity pathway
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads FZD2 as an antibody target. Whether an autoantibody or antibody against FZD2 could matter depends on whether native FZD2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
FZD2 is annotated at the cell surface, where native FZD2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label FZD2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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