FZD10
gene geneOn this page
Also known as CD350
Summary
FZD10 (frizzled class receptor 10, HGNC:4039) is a protein-coding gene on chromosome 12q24.33, encoding Frizzled-10 (Q9ULW2). Receptor for Wnt proteins.
This gene is a member of the frizzled gene family. Members of this family encode 7-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. Using array analysis, expression of this intronless gene is significantly up-regulated in two cases of primary colon cancer.
Source: NCBI Gene 11211 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 86 total
- Druggable target: yes
- MANE Select transcript:
NM_007197
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4039 |
| Approved symbol | FZD10 |
| Name | frizzled class receptor 10 |
| Location | 12q24.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CD350 |
| Ensembl gene | ENSG00000111432 |
| Ensembl biotype | protein_coding |
| OMIM | 606147 |
| Entrez | 11211 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000229030, ENST00000539839
RefSeq mRNA: 1 — MANE Select: NM_007197
NM_007197
CCDS: CCDS9267
Canonical transcript exons
ENST00000229030 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002290283 | 130162464 | 130165740 |
Expression profiles
Bgee: expression breadth ubiquitous, 191 present calls, max score 93.47.
FANTOM5 (CAGE): breadth broad, TPM avg 2.3268 / max 337.7078, expressed in 352 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 128719 | 2.2224 | 343 |
| 128720 | 0.0697 | 29 |
| 128721 | 0.0230 | 4 |
| 128718 | 0.0118 | 3 |
Top tissues by expression
281 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| gingival epithelium | UBERON:0001949 | 93.47 | gold quality |
| gingiva | UBERON:0001828 | 91.72 | gold quality |
| cartilage tissue | UBERON:0002418 | 88.80 | gold quality |
| squamous epithelium | UBERON:0006914 | 86.85 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 86.57 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 84.95 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 84.65 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 83.35 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 82.55 | gold quality |
| cervix epithelium | UBERON:0004801 | 82.17 | gold quality |
| synovial joint | UBERON:0002217 | 81.62 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 81.47 | gold quality |
| esophagus mucosa | UBERON:0002469 | 79.79 | gold quality |
| penis | UBERON:0000989 | 78.51 | gold quality |
| oral cavity | UBERON:0000167 | 78.01 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 76.95 | silver quality |
| skin of hip | UBERON:0001554 | 76.45 | gold quality |
| skin of abdomen | UBERON:0001416 | 76.24 | gold quality |
| zone of skin | UBERON:0000014 | 75.74 | gold quality |
| oviduct epithelium | UBERON:0004804 | 75.47 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 74.92 | silver quality |
| skin of leg | UBERON:0001511 | 74.89 | gold quality |
| mammalian vulva | UBERON:0000997 | 74.62 | gold quality |
| upper leg skin | UBERON:0004262 | 73.08 | gold quality |
| vagina | UBERON:0000996 | 71.84 | gold quality |
| tibialis anterior | UBERON:0001385 | 71.62 | silver quality |
| layer of synovial tissue | UBERON:0007616 | 71.14 | gold quality |
| uterine cervix | UBERON:0000002 | 70.36 | gold quality |
| endothelial cell | CL:0000115 | 70.30 | silver quality |
| placenta | UBERON:0001987 | 70.30 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.69 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
72 targeting FZD10, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-4493 | 99.90 | 66.48 | 977 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-3941 | 99.86 | 70.54 | 2735 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-221-5P | 99.86 | 65.45 | 1052 |
| HSA-MIR-8073 | 99.86 | 65.21 | 1118 |
| HSA-MIR-664B-3P | 99.84 | 71.65 | 3590 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-6885-3P | 99.75 | 70.36 | 3187 |
Literature-anchored findings (GeneRIF, showing 10)
- there was a strong inverse correlation between nuclear immunostaining scores for beta-catenin expression and expression patterns of FZD10 (PMID:19134005)
- FZD10 transactivation causes the activation of the Dvl-Rac1-JNK pathway and is associated with the development/progression of synovial sarcomas (PMID:19137009)
- the selective expression of FZD10 in brain vascular endothelial cells points at a potential role of FZD10-Galpha13 signalling in central nervous system angiogenesis. (PMID:28126591)
- The tumor associated antigen hFZD10 produced as a fusion protein with mTEM7 could be used to enrich scFv antibodies from a yeast display library. (PMID:29500915)
- N(6)-methylation of adenosine of FZD10 mRNA contributes to PARP inhibitor resistance in the ovarian cancer cells. (PMID:30967398)
- SEPT9_v2, frequently silenced by promoter hypermethylation, exerts anti-tumor functions through inactivation of Wnt/beta-catenin signaling pathway via miR92b-3p/FZD10 in nasopharyngeal carcinoma cells. (PMID:32138771)
- A Possible Role of FZD10 Delivering Exosomes Derived from Colon Cancers Cell Lines in Inducing Activation of Epithelial-Mesenchymal Transition in Normal Colon Epithelial Cell Line. (PMID:32933173)
- Targeting fatty acid synthase sensitizes human nasopharyngeal carcinoma cells to radiation via downregulating frizzled class receptor 10. (PMID:32944403)
- [Exosomal FZD10 derived from non-small cell lung cancer cells promotes angiogenesis of human umbilical venous endothelial cells in vitro]. (PMID:36210708)
- N6-Methyladenosine-Mediated Up-Regulation of FZD10 Regulates Liver Cancer Stem Cells’ Properties and Lenvatinib Resistance Through WNT/beta-Catenin and Hippo Signaling Pathways. (PMID:36764493)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fzd10 | ENSDARG00000068213 |
| mus_musculus | Fzd10 | ENSMUSG00000081683 |
| rattus_norvegicus | Fzd10 | ENSRNOG00000022784 |
| drosophila_melanogaster | fz3 | FBGN0027343 |
| caenorhabditis_elegans | WBGENE00022242 |
Paralogs (15): FZD3 (ENSG00000104290), SFRP1 (ENSG00000104332), SFRP4 (ENSG00000106483), SFRP5 (ENSG00000120057), SMO (ENSG00000128602), SFRP2 (ENSG00000145423), FZD7 (ENSG00000155760), FZD1 (ENSG00000157240), FRZB (ENSG00000162998), FZD5 (ENSG00000163251), FZD6 (ENSG00000164930), FZD4 (ENSG00000174804), FZD8 (ENSG00000177283), FZD2 (ENSG00000180340), FZD9 (ENSG00000188763)
Protein
Protein identifiers
Frizzled-10 — Q9ULW2 (reviewed: Q9ULW2)
Alternative names: FzE7
All UniProt accessions (2): Q9ULW2, F5H450
UniProt curated annotations — full annotation on UniProt →
Function. Receptor for Wnt proteins. Functions in the canonical Wnt/beta-catenin signaling pathway. The canonical Wnt/beta-catenin signaling pathway 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.
Subunit / interactions. Interacts with WNT7B. Interacts with MYOC.
Subcellular location. Cell membrane.
Tissue specificity. Highest levels in the placenta and fetal kidney, followed by fetal lung and brain. In adult brain, abundantly expressed in the cerebellum, followed by cerebral cortex, medulla and spinal cord; very low levels in total brain, frontal lobe, temporal lobe and putamen. Weak expression detected in adult brain, heart, lung, skeletal muscle, pancreas, spleen and prostate.
Post-translational modifications. Ubiquitinated by ZNRF3, leading to its degradation by the proteasome.
Domain organisation. Lys-Thr-X-X-X-Trp motif interacts with the PDZ domain of Dvl (Disheveled) family members and is involved in the activation of the Wnt/beta-catenin signaling pathway. The FZ domain is involved in binding with Wnt ligands.
Similarity. Belongs to the G-protein coupled receptor Fz/Smo family.
RefSeq proteins (1): NP_009128* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000539 | Frizzled/Smoothened_7TM | Domain |
| IPR015526 | Frizzled/SFRP | Family |
| IPR017981 | GPCR_2-like_7TM | Domain |
| IPR020067 | Frizzled_dom | Domain |
| IPR036790 | Frizzled_dom_sf | Homologous_superfamily |
Pfam: PF01392, PF01534
UniProt features (40 total): helix 9, topological domain 8, transmembrane region 7, disulfide bond 5, glycosylation site 3, short sequence motif 2, strand 2, signal peptide 1, chain 1, domain 1, region of interest 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7X8T | X-RAY DIFFRACTION | 2.51 |
| 7X8Q | X-RAY DIFFRACTION | 2.65 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9ULW2-F1 | 81.10 | 0.54 |
Antibody-complex structures (SAbDab): 2 — 7X8Q, 7X8T
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (5): 34–95, 42–88, 79–117, 106–147, 110–134
Glycosylation sites (3): 48, 153, 485
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-373080 | Class B/2 (Secretin family receptors) |
MSigDB gene sets: 154 (showing top):
BENPORATH_ES_WITH_H3K27ME3, GU_PDEF_TARGETS_DN, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOBP_CELLULAR_RESPONSE_TO_LIPID, JAEGER_METASTASIS_DN, GOBP_NON_CANONICAL_WNT_SIGNALING_PATHWAY, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, GOCC_CELL_SURFACE, GOBP_NEUROGENESIS, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, GOBP_CELLULAR_RESPONSE_TO_RETINOIC_ACID, GOBP_CANONICAL_WNT_SIGNALING_PATHWAY, LU_TUMOR_VASCULATURE_UP, KEGG_PATHWAYS_IN_CANCER
GO Biological Process (10): neuron differentiation (GO:0030182), regulation of actin cytoskeleton organization (GO:0032956), non-canonical Wnt signaling pathway (GO:0035567), positive regulation of JNK cascade (GO:0046330), canonical Wnt signaling pathway (GO:0060070), cellular response to retinoic acid (GO:0071300), signal transduction (GO:0007165), cell surface receptor signaling pathway (GO:0007166), G protein-coupled receptor signaling pathway (GO:0007186), Wnt signaling pathway (GO:0016055)
GO Molecular Function (5): G protein-coupled receptor activity (GO:0004930), Wnt-protein binding (GO:0017147), Wnt receptor activity (GO:0042813), transmembrane signaling receptor activity (GO:0004888), protein binding (GO:0005515)
GO Cellular Component (6): obsolete extracellular space (GO:0005615), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), plasma membrane (GO:0005886), cell surface (GO:0009986), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| GPCR ligand binding | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| Wnt signaling pathway | 3 |
| signal transduction | 2 |
| transmembrane signaling receptor activity | 2 |
| cell differentiation | 1 |
| generation of neurons | 1 |
| actin cytoskeleton organization | 1 |
| regulation of actin filament-based process | 1 |
| regulation of cytoskeleton organization | 1 |
| JNK cascade | 1 |
| positive regulation of MAPK cascade | 1 |
| regulation of JNK cascade | 1 |
| response to retinoic acid | 1 |
| cellular response to lipid | 1 |
| cellular response to oxygen-containing compound | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| G protein-coupled receptor activity | 1 |
| cell surface receptor signaling pathway | 1 |
| G protein-coupled receptor signaling pathway | 1 |
| protein binding | 1 |
| Wnt-protein binding | 1 |
| signaling receptor activity | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
994 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FZD10 | WNT7A | O00755 | 954 |
| FZD10 | WNT7B | P56706 | 879 |
| FZD10 | WNT1 | P04628 | 835 |
| FZD10 | CTNNB1 | P35222 | 725 |
| FZD10 | HILPDA | Q9Y5L2 | 700 |
| FZD10 | WNT2B | Q93097 | 689 |
| FZD10 | LRP5 | O75197 | 680 |
| FZD10 | WNT3A | P56704 | 671 |
| FZD10 | WNT2 | P09544 | 658 |
| FZD10 | LRP6 | O75581 | 645 |
| FZD10 | WNT9B | O14905 | 629 |
| FZD10 | WNT10A | Q9GZT5 | 629 |
| FZD10 | WNT10B | O00744 | 623 |
| FZD10 | FRAT2 | O75474 | 548 |
| FZD10 | WNT11 | O96014 | 546 |
IntAct
90 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FZD10 | P4HB | psi-mi:“MI:0915”(physical association) | 0.560 |
| NOTCH2NLC | FZD10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP10-8 | FZD10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP1-1 | FZD10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYSRT1 | FZD10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCNDBP1 | FZD10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| P4HB | FZD10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FZD10 | NRP1 | psi-mi:“MI:0914”(association) | 0.530 |
| LNX2 | FZD10 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| FZD10 | APBA1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| FZD10 | PATJ | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| FZD10 | HTRA1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| FZD10 | PDZD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| FZD10 | RADIL | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SYNJ2BP | FZD10 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| FZD10 | PDZD7 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| FZD10 | HTRA4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| FZD10 | TAMALIN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| FZD10 | ARHGEF11 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| FZD10 | MAGI2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| FZD10 | NOS1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| FZD10 | LNX1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| FZD10 | MAGI3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ARHGAP21 | FZD10 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| FZD10 | DLG4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| FZD10 | SNX27 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAST2 | FZD10 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
BioGRID (99): EVI5 (Affinity Capture-MS), TMED8 (Affinity Capture-MS), GSTCD (Affinity Capture-MS), VPS8 (Affinity Capture-MS), ATRIP (Affinity Capture-MS), EVI5L (Affinity Capture-MS), VEZT (Affinity Capture-MS), RINT1 (Affinity Capture-MS), NCAPD2 (Affinity Capture-MS), XPO7 (Affinity Capture-MS), XPO4 (Affinity Capture-MS), ATP6V0A2 (Affinity Capture-MS), C4orf32 (Affinity Capture-MS), TNPO2 (Affinity Capture-MS), HEATR3 (Affinity Capture-MS)
ESM2 similar proteins: B3DIG4, O00144, O57328, O57329, O70421, O75084, O93274, P18537, P23385, P27115, P27808, P41594, P55013, P58421, P97772, Q08463, Q08464, Q13255, Q13467, Q14332, Q24760, Q498S8, Q5BL72, Q5RH73, Q61090, Q61091, Q6NVG7, Q6P9A2, Q6PA90, Q8AVJ9, Q8BKG4, Q8CHL0, Q8IYK4, Q8K4C8, Q9DEB5, Q9EQD0, Q9H461, Q9I9M5, Q9IA02, Q9IA06
Diamond homologs: A0A0K3AWM6, B3DIG4, G5ECQ2, O00144, O19116, O42579, O57328, O57329, O60353, O70421, O75084, O93274, P18537, P58421, P97299, P97401, Q08463, Q08464, Q13467, Q14332, Q24760, Q498S8, Q5BL72, Q5RCN4, Q5RF67, Q5T4F7, Q61086, Q61088, Q61089, Q61090, Q61091, Q6FHJ7, Q7YRN1, Q80YN4, Q863H1, Q8AVJ9, Q8BKG4, Q8C4U3, Q8CHL0, Q8K4C8
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| WNT7B | up-regulates | FZD10 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 61 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Assembly and cell surface presentation of NMDA receptors | 7 | 43.3× | 3e-08 |
| Neurexins and neuroligins | 6 | 28.8× | 5e-06 |
| Signaling by Rho GTPases | 7 | 5.8× | 2e-03 |
| Signaling by Rho GTPases, Miro GTPases and RHOBTB3 | 7 | 5.7× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| establishment or maintenance of epithelial cell apical/basal polarity | 7 | 70.1× | 3e-09 |
| receptor clustering | 5 | 53.8× | 5e-06 |
| cell-cell adhesion | 5 | 8.8× | 8e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
86 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 85 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
14 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:130162652:GCC:G | donor_gain | 0.5400 |
| 12:130162651:GGCC:G | donor_gain | 0.5300 |
| 12:130162652:GCCG:G | donor_gain | 0.5300 |
| 12:130162655:G:GG | donor_gain | 0.5300 |
| 12:130162654:C:CG | donor_gain | 0.4600 |
| 12:130164334:C:CA | acceptor_gain | 0.4600 |
| 12:130162529:G:T | donor_gain | 0.3600 |
| 12:130164347:AT:A | acceptor_gain | 0.3000 |
| 12:130162660:T:TA | donor_gain | 0.2800 |
| 12:130162528:G:GT | donor_gain | 0.2500 |
| 12:130164334:C:G | acceptor_gain | 0.2400 |
| 12:130164347:ATG:A | acceptor_gain | 0.2400 |
| 12:130162972:G:T | acceptor_gain | 0.2100 |
| 12:130164338:C:CA | acceptor_gain | 0.2100 |
AlphaMissense
3840 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:130163066:T:A | C42S | 1.000 |
| 12:130163067:G:C | C42S | 1.000 |
| 12:130163177:T:A | C79S | 1.000 |
| 12:130163178:G:A | C79Y | 1.000 |
| 12:130163178:G:C | C79S | 1.000 |
| 12:130163259:G:A | C106Y | 1.000 |
| 12:130163291:T:A | C117S | 1.000 |
| 12:130163291:T:C | C117R | 1.000 |
| 12:130163292:G:C | C117S | 1.000 |
| 12:130163324:T:A | W128R | 1.000 |
| 12:130163324:T:C | W128R | 1.000 |
| 12:130163326:G:C | W128C | 1.000 |
| 12:130163326:G:T | W128C | 1.000 |
| 12:130163381:T:A | C147S | 1.000 |
| 12:130163382:G:C | C147S | 1.000 |
| 12:130164017:T:A | W359R | 1.000 |
| 12:130164017:T:C | W359R | 1.000 |
| 12:130163042:T:A | C34S | 0.999 |
| 12:130163043:G:C | C34S | 0.999 |
| 12:130163066:T:C | C42R | 0.999 |
| 12:130163067:G:A | C42Y | 0.999 |
| 12:130163068:C:G | C42W | 0.999 |
| 12:130163153:T:C | F71L | 0.999 |
| 12:130163154:T:G | F71C | 0.999 |
| 12:130163155:C:A | F71L | 0.999 |
| 12:130163155:C:G | F71L | 0.999 |
| 12:130163177:T:C | C79R | 0.999 |
| 12:130163178:G:T | C79F | 0.999 |
| 12:130163179:C:G | C79W | 0.999 |
| 12:130163204:T:A | C88S | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000275742 (12:130164872 GGTTTT>G,GGTTTTGTTTT), RS1000687130 (12:130165276 C>G,T), RS1001075114 (12:130165175 CG>C), RS1001140534 (12:130165135 A>G), RS1002195419 (12:130161006 C>T), RS1002654261 (12:130160813 G>A), RS1002855092 (12:130165074 T>C), RS1003069900 (12:130162835 G>A), RS1003608704 (12:130163146 G>T), RS1003922200 (12:130165960 G>A), RS1004181716 (12:130165605 G>A), RS1004740463 (12:130160592 G>C), RS1005984193 (12:130162983 T>G), RS1006185066 (12:130162809 G>A,T), RS1006342917 (12:130161226 A>G)
Disease associations
OMIM: gene MIM:606147 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001601_3 | Gambling | 4.000000e-06 |
| GCST003983_41 | Male-pattern baldness | 4.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004699 | gambling behaviour |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4523492 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: gpcr — Class Frizzled GPCRs
CTD chemical–gene interactions
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, decreases expression | 7 |
| trichostatin A | increases expression | 2 |
| Panobinostat | increases expression, affects cotreatment | 2 |
| Benzo(a)pyrene | increases expression, increases methylation | 2 |
| Estradiol | affects cotreatment, decreases expression, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| methylmercuric chloride | decreases expression | 1 |
| bisphenol A | decreases methylation | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | increases methylation | 1 |
| tobacco tar | decreases expression | 1 |
| mercuric bromide | decreases expression | 1 |
| pentabromodiphenyl ether | increases expression | 1 |
| deguelin | increases expression | 1 |
| entinostat | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| torcetrapib | increases expression | 1 |
| quinocetone | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| Cyclic AMP | affects cotreatment, decreases expression | 1 |
| Ethanol | increases expression | 1 |
| Ascorbic Acid | affects cotreatment, decreases expression | 1 |
| Chelating Agents | affects binding, affects expression | 1 |
| Copper | affects binding, affects expression | 1 |
| Succimer | decreases expression, affects cotreatment | 1 |
| Pesticides | decreases methylation | 1 |
| Progesterone | affects cotreatment, decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Smoke | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4376178 | Binding | Binding affinity to Frizzled-10 CRD (unknown origin) | Lead Optimization Yields High Affinity Frizzled 7-Targeting Peptides That Modulate Clostridium difficile Toxin B Pathogenicity in Epithelial Cells. — J Med Chem |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_0237 | Capan-1 | Cancer cell line | Male |
| CVCL_0A59 | Capan1M9 | Cancer cell line | Male |
| CVCL_S022 | Capan-1 SimpleCell O-GalNAc | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.