WNT6
gene geneOn this page
Summary
WNT6 (Wnt family member 6, HGNC:12785) is a protein-coding gene on chromosome 2q35, encoding Protein Wnt-6 (Q9Y6F9). Ligand for members of the frizzled family of seven transmembrane receptors.
The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is overexpressed in cervical cancer cell line and strongly coexpressed with another family member, WNT10A, in colorectal cancer cell line. The gene overexpression may play key roles in carcinogenesis. This gene and the WNT10A gene are clustered in the chromosome 2q35 region. The protein encoded by this gene is 97% identical to the mouse Wnt6 protein at the amino acid level.
Source: NCBI Gene 7475 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 48 total — 1 pathogenic
- MANE Select transcript:
NM_006522
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12785 |
| Approved symbol | WNT6 |
| Name | Wnt family member 6 |
| Location | 2q35 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000115596 |
| Ensembl biotype | protein_coding |
| OMIM | 604663 |
| Entrez | 7475 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000233948, ENST00000486233
RefSeq mRNA: 1 — MANE Select: NM_006522
NM_006522
CCDS: CCDS2425
Canonical transcript exons
ENST00000233948 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000922341 | 218871027 | 218871247 |
| ENSE00000922342 | 218871485 | 218871819 |
| ENSE00000922343 | 218873384 | 218874233 |
| ENSE00001075206 | 218859805 | 218860117 |
Expression profiles
Bgee: expression breadth ubiquitous, 152 present calls, max score 96.46.
FANTOM5 (CAGE): breadth broad, TPM avg 1.3048 / max 115.2853, expressed in 307 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 25402 | 0.5114 | 181 |
| 25403 | 0.4817 | 183 |
| 25401 | 0.3117 | 98 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endometrium epithelium | UBERON:0004811 | 96.46 | gold quality |
| tibial nerve | UBERON:0001323 | 86.76 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 83.01 | gold quality |
| frontal pole | UBERON:0002795 | 82.84 | gold quality |
| sural nerve | UBERON:0015488 | 82.31 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 80.30 | gold quality |
| paraflocculus | UBERON:0005351 | 80.09 | gold quality |
| putamen | UBERON:0001874 | 76.07 | gold quality |
| apex of heart | UBERON:0002098 | 75.20 | gold quality |
| caudate nucleus | UBERON:0001873 | 74.38 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 74.15 | gold quality |
| decidua | UBERON:0002450 | 74.06 | gold quality |
| cerebellar vermis | UBERON:0004720 | 72.46 | gold quality |
| spleen | UBERON:0002106 | 71.17 | gold quality |
| olfactory bulb | UBERON:0002264 | 71.10 | gold quality |
| sigmoid colon | UBERON:0001159 | 70.99 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 70.67 | gold quality |
| nucleus accumbens | UBERON:0001882 | 70.32 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 70.23 | gold quality |
| lower esophagus | UBERON:0013473 | 70.12 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 70.00 | gold quality |
| mucosa of stomach | UBERON:0001199 | 69.96 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 69.79 | gold quality |
| endocervix | UBERON:0000458 | 68.49 | gold quality |
| ectocervix | UBERON:0012249 | 67.75 | gold quality |
| heart left ventricle | UBERON:0002084 | 67.49 | gold quality |
| triceps brachii | UBERON:0001509 | 67.12 | gold quality |
| cardiac ventricle | UBERON:0002082 | 67.06 | gold quality |
| left uterine tube | UBERON:0001303 | 67.01 | gold quality |
| gluteal muscle | UBERON:0002000 | 66.92 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.75 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): FOXA2, GATA6
miRNA regulators (miRDB)
11 targeting WNT6, 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-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-4530 | 99.69 | 66.47 | 1509 |
| HSA-MIR-1207-5P | 99.49 | 69.11 | 2983 |
| HSA-MIR-548G-3P | 99.48 | 68.67 | 2159 |
| HSA-MIR-6791-5P | 99.16 | 65.92 | 1844 |
| HSA-MIR-4292 | 99.16 | 65.57 | 1767 |
| HSA-MIR-4763-3P | 99.10 | 67.83 | 2649 |
| HSA-MIR-6784-3P | 98.39 | 64.88 | 662 |
| HSA-MIR-6862-3P | 97.92 | 64.86 | 531 |
| HSA-MIR-2861 | 95.24 | 65.47 | 1056 |
Literature-anchored findings (GeneRIF, showing 17)
- Wnt6 plays an important role in tooth development by promoting human dental papilla cell differentiation, without significant effects on cell proliferation. (PMID:20113781)
- The WNT6 rs6747776 homozygous minor allele (CC) was associated with increased risk of colorectal adenoma. (PMID:21547848)
- WNT6 and Cav1 are upregulated by chemotherapeutics and enhance the resistance of GC cells to anthracycline drugs (PMID:22370641)
- WNT6 activates the JNK signaling pathway in HDPCs, leading to migration and differentiation. (PMID:24935540)
- analysis of missense mutation in WNT6 in couples with unexplained recurrent miscarriage (PMID:25750203)
- our results support the concept that WNT6 may play a role in tumor progression (PMID:26617869)
- The authors show that WNT6 is significantly overexpressed in glioblastoma, as compared to lower-grade gliomas and normal brain, at mRNA and protein levels. Functionally, WNT6 increases typical oncogenic activities in glioblastoma cells, including viability, proliferation, glioma stem cell capacity, invasion, migration, and resistance to temozolomide chemotherapy. (PMID:30279739)
- WNT6 may be a diagnostic and prognostic marker in osteosarcoma (PMID:30431574)
- Study results indicated that PLAGL2 was overexpressed in colorectal cancer (CRC) as a protooncogene and that it could active the Wnt/betacatenin pathway as a transcription factor by binding with the promoter region of Wnt6. (PMID:30535429)
- Secreted Wnt6 binds to FZD4 to activate the canonical Wnt6 signaling pathway, which is upstream of ROCK1 and 14-3-3sigma, and that this is the cell signaling pathway underlying diabetes-associated centrosome amplification. (PMID:31618077)
- A novel molecular link between HOXA9 and WNT6 in glioblastoma identifies a subgroup of patients with particular poor prognosis. (PMID:31923345)
- MiR-566 protects the malignant progression of breast cancer by negatively regulating WNT6. (PMID:32572884)
- Wnt6 plays a complex role in maintaining human limbal stem/progenitor cells. (PMID:34686698)
- Wnt4, Wnt6 and beta-catenin expression in human placental tissue - is there a link with first trimester miscarriage? Results from a pilot study. (PMID:35300692)
- The glycoprotein Wnt6 regulates human dental papilla cells differentiation by canonical Wnt signaling pathway. (PMID:35691114)
- WNT6 participates in the occurrence and development of ovarian cancer by upregulating/activating the typical Wnt pathway and Notch1 signaling pathway. (PMID:36075327)
- The investigation of WNT6 and WNT10A single nucleotide polymorphisms as potential biomarkers for dental pulp calcification in orthodontic patients. (PMID:37566620)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | wnt6b | ENSDARG00000073935 |
| mus_musculus | Wnt6 | ENSMUSG00000033227 |
| rattus_norvegicus | Wnt6 | ENSRNOG00000017409 |
| drosophila_melanogaster | Wnt6 | FBGN0031902 |
Paralogs (18): WNT16 (ENSG00000002745), WNT8A (ENSG00000061492), WNT8B (ENSG00000075290), WNT11 (ENSG00000085741), WNT2 (ENSG00000105989), WNT3 (ENSG00000108379), WNT5B (ENSG00000111186), WNT5A (ENSG00000114251), WNT1 (ENSG00000125084), WNT2B (ENSG00000134245), WNT10A (ENSG00000135925), WNT9A (ENSG00000143816), WNT3A (ENSG00000154342), WNT7A (ENSG00000154764), WNT9B (ENSG00000158955), WNT4 (ENSG00000162552), WNT10B (ENSG00000169884), WNT7B (ENSG00000188064)
Protein
Protein identifiers
Protein Wnt-6 — Q9Y6F9 (reviewed: Q9Y6F9)
All UniProt accessions (1): Q9Y6F9
UniProt curated annotations — full annotation on UniProt →
Function. Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters. Together with CAV1 may promote chemoresistance of gastric cancer cells to DNA-damaging anthracycline drugs through the activation of the canonical Wnt receptor signaling pathway.
Subunit / interactions. Interacts with PORCN.
Subcellular location. Secreted. Extracellular space. Extracellular matrix.
Tissue specificity. Expressed in gastric cancer cell lines and gastric cancer tissues (at protein level). Detected in the apical gland region of the gastric foveolar epithelium (at protein level).
Post-translational modifications. Palmitoleoylation is required for efficient binding to frizzled receptors. Depalmitoleoylation leads to Wnt signaling pathway inhibition.
Similarity. Belongs to the Wnt family.
RefSeq proteins (1): NP_006513* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005817 | Wnt | Family |
| IPR009143 | Wnt6 | Family |
| IPR018161 | Wnt_CS | Conserved_site |
| IPR043158 | Wnt_C | Homologous_superfamily |
Pfam: PF00110
UniProt features (18 total): disulfide bond 11, glycosylation site 2, signal peptide 1, chain 1, region of interest 1, compositionally biased region 1, lipid moiety-binding region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y6F9-F1 | 83.62 | 0.63 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 228
Disulfide bonds (11): 222–236, 224–231, 294–325, 310–320, 324–364, 340–355, 342–352, 347–348, 76–87, 124–132, 134–172
Glycosylation sites (2): 86, 311
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-3238698 | WNT ligand biogenesis and trafficking |
| R-HSA-373080 | Class B/2 (Secretin family receptors) |
MSigDB gene sets: 224 (showing top):
GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, RNGTGGGC_UNKNOWN, GOBP_EPITHELIUM_DEVELOPMENT, BENPORATH_ES_WITH_H3K27ME3, GOBP_AXIS_SPECIFICATION, KEGG_HEDGEHOG_SIGNALING_PATHWAY, GOBP_CELLULAR_RESPONSE_TO_LIPID, GCANCTGNY_MYOD_Q6, XU_HGF_TARGETS_REPRESSED_BY_AKT1_DN, GOCC_CELL_SURFACE, GOBP_NEUROGENESIS, TAL1ALPHAE47_01, GOBP_KIDNEY_EPITHELIUM_DEVELOPMENT, GOBP_TOOTH_MINERALIZATION, GGGTGGRR_PAX4_03
GO Biological Process (16): branching involved in ureteric bud morphogenesis (GO:0001658), axis specification (GO:0009798), positive regulation of gene expression (GO:0010628), neuron differentiation (GO:0030182), odontogenesis of dentin-containing tooth (GO:0042475), cell fate commitment (GO:0045165), positive regulation of DNA-templated transcription (GO:0045893), canonical Wnt signaling pathway (GO:0060070), epithelial-mesenchymal cell signaling (GO:0060684), cornea development in camera-type eye (GO:0061303), positive regulation of tooth mineralization (GO:0070172), cellular response to retinoic acid (GO:0071300), nephron tubule formation (GO:0072079), multicellular organism development (GO:0007275), Wnt signaling pathway (GO:0016055), nephron tubule development (GO:0072080)
GO Molecular Function (3): frizzled binding (GO:0005109), cytokine activity (GO:0005125), signaling receptor binding (GO:0005102)
GO Cellular Component (9): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), endoplasmic reticulum lumen (GO:0005788), Golgi lumen (GO:0005796), plasma membrane (GO:0005886), cell surface (GO:0009986), endocytic vesicle membrane (GO:0030666), extracellular matrix (GO:0031012), extracellular exosome (GO:0070062)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Signaling by WNT | 1 |
| GPCR ligand binding | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cell differentiation | 2 |
| anatomical structure development | 2 |
| cellular anatomical structure | 2 |
| intracellular organelle lumen | 2 |
| branching morphogenesis of an epithelial tube | 1 |
| ureteric bud morphogenesis | 1 |
| pattern specification process | 1 |
| gene expression | 1 |
| regulation of gene expression | 1 |
| positive regulation of macromolecule biosynthetic process | 1 |
| generation of neurons | 1 |
| odontogenesis | 1 |
| cellular developmental process | 1 |
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| Wnt signaling pathway | 1 |
| cell-cell signaling | 1 |
| camera-type eye development | 1 |
| tooth mineralization | 1 |
| positive regulation of biomineral tissue development | 1 |
| regulation of tooth mineralization | 1 |
| response to retinoic acid | 1 |
| cellular response to lipid | 1 |
| cellular response to oxygen-containing compound | 1 |
| embryonic epithelial tube formation | 1 |
| nephron tubule morphogenesis | 1 |
| multicellular organismal process | 1 |
| cell surface receptor signaling pathway | 1 |
| renal tubule development | 1 |
| nephron epithelium development | 1 |
| G protein-coupled receptor binding | 1 |
| receptor ligand activity | 1 |
| protein binding | 1 |
| endoplasmic reticulum | 1 |
| Golgi apparatus | 1 |
| membrane | 1 |
| cell periphery | 1 |
| endocytic vesicle | 1 |
| cytoplasmic vesicle membrane | 1 |
Protein interactions and networks
STRING
1250 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| WNT6 | DKK2 | Q9UBU2 | 874 |
| WNT6 | DKK3 | Q9UBP4 | 865 |
| WNT6 | FZD2 | Q14332 | 864 |
| WNT6 | DKK4 | Q9UBT3 | 860 |
| WNT6 | DKK1 | O94907 | 847 |
| WNT6 | LRP5 | O75197 | 814 |
| WNT6 | FZD9 | O00144 | 787 |
| WNT6 | FZD4 | Q9ULV1 | 762 |
| WNT6 | FZD1 | Q9UP38 | 753 |
| WNT6 | FZD5 | Q13467 | 748 |
| WNT6 | FZD3 | Q9NPG1 | 724 |
| WNT6 | SFRP1 | Q8N474 | 719 |
| WNT6 | LRP6 | O75581 | 706 |
| WNT6 | FZD6 | O60353 | 697 |
| WNT6 | FZD7 | O75084 | 691 |
IntAct
6 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NOTCH2 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| WNT6 | CHEK1 | psi-mi:“MI:0914”(association) | 0.350 |
| C1orf54 | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| LYPD1 | ADAM10 | psi-mi:“MI:0914”(association) | 0.350 |
| PATE1 | AGRN | psi-mi:“MI:0914”(association) | 0.350 |
| WNT3A | LRP5 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (7): WNT6 (Reconstituted Complex), WNT6 (Co-localization), SEC11A (Affinity Capture-MS), SPCS1 (Affinity Capture-MS), SEC11C (Affinity Capture-MS), SPCS2 (Affinity Capture-MS), CHEK1 (Affinity Capture-MS)
ESM2 similar proteins: D3Z7H8, D3ZE55, D3ZT86, G7PWZ3, O00634, O08644, O15197, O15230, O88516, O88671, O95206, P00744, P07204, P0C0K6, P0C0K7, P20863, P22727, P24347, P27539, P43029, P58459, P98161, P98167, Q04912, Q2PC93, Q3UH93, Q3UQ22, Q5IJ48, Q5JZY3, Q5W7P8, Q61001, Q6MG84, Q71U07, Q76LX8, Q7TSK3, Q80YA8, Q86UP0, Q8BYG9, Q8TE56, Q8WTR8
Diamond homologs: A0M8S1, A0M8T2, A1X153, A4D7S0, B2GUT4, O00755, O13267, O15978, O42122, O70283, P04426, P04628, P09544, P09615, P10108, P17553, P21551, P21552, P22724, P22725, P22726, P22727, P24257, P24383, P27467, P28047, P28465, P31285, P31286, P33945, P34888, P34889, P41221, P43446, P47793, P49337, P49338, P49339, P49340, P49893
SIGNOR signaling
6 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| WNT6 | up-regulates | FZD3 | binding |
| WNT6 | up-regulates | LRP5 | binding |
| WNT6 | up-regulates | CTNNB1 | |
| WNT6 | up-regulates | MYOD1 | |
| WNT6 | up-regulates | MYF5 |
Disease & clinical
Cancer significance
Clinical variants and AI predictions
ClinVar
48 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 41 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1459325 | NC_000002.11:g.(?219646906)(219738567_?)del | Pathogenic |
SpliceAI
634 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:218871023:CCA:C | acceptor_loss | 1.0000 |
| 2:218871024:CA:C | acceptor_loss | 1.0000 |
| 2:218871025:A:AG | acceptor_gain | 1.0000 |
| 2:218871025:AG:A | acceptor_gain | 1.0000 |
| 2:218871025:AGG:A | acceptor_gain | 1.0000 |
| 2:218871026:G:GG | acceptor_gain | 1.0000 |
| 2:218871026:GG:G | acceptor_gain | 1.0000 |
| 2:218871026:GGG:G | acceptor_gain | 1.0000 |
| 2:218871026:GGGC:G | acceptor_gain | 1.0000 |
| 2:218871026:GGGCT:G | acceptor_gain | 1.0000 |
| 2:218871230:G:GT | donor_gain | 1.0000 |
| 2:218871246:GG:G | donor_gain | 1.0000 |
| 2:218871247:GG:G | donor_gain | 1.0000 |
| 2:218871483:A:AG | acceptor_gain | 1.0000 |
| 2:218871484:G:GA | acceptor_gain | 1.0000 |
| 2:218871484:GAC:G | acceptor_gain | 1.0000 |
| 2:218871815:GGCTG:G | donor_gain | 1.0000 |
| 2:218871816:GCTGG:G | donor_gain | 1.0000 |
| 2:218871023:CCAGG:C | acceptor_gain | 0.9900 |
| 2:218871024:CAGG:C | acceptor_gain | 0.9900 |
| 2:218871025:AGGG:A | acceptor_gain | 0.9900 |
| 2:218871243:ACAGG:A | donor_gain | 0.9900 |
| 2:218871245:AGGG:A | donor_loss | 0.9900 |
| 2:218871247:GGT:G | donor_loss | 0.9900 |
| 2:218871248:G:GG | donor_gain | 0.9900 |
| 2:218871248:G:T | donor_gain | 0.9900 |
| 2:218871248:GT:G | donor_loss | 0.9900 |
| 2:218871249:T:G | donor_loss | 0.9900 |
| 2:218871479:TCACA:T | acceptor_loss | 0.9900 |
| 2:218871480:CACA:C | acceptor_loss | 0.9900 |
AlphaMissense
2329 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:218871201:G:C | W85C | 1.000 |
| 2:218871201:G:T | W85C | 1.000 |
| 2:218873777:T:C | F344L | 1.000 |
| 2:218873778:T:G | F344C | 1.000 |
| 2:218873779:C:A | F344L | 1.000 |
| 2:218873779:C:G | F344L | 1.000 |
| 2:218873785:G:C | W346C | 1.000 |
| 2:218873785:G:T | W346C | 1.000 |
| 2:218871199:T:A | W85R | 0.999 |
| 2:218871199:T:C | W85R | 0.999 |
| 2:218871562:G:T | G127C | 0.999 |
| 2:218871690:G:C | W169C | 0.999 |
| 2:218871690:G:T | W169C | 0.999 |
| 2:218871801:C:A | N206K | 0.999 |
| 2:218871801:C:G | N206K | 0.999 |
| 2:218871811:G:T | G210C | 0.999 |
| 2:218873416:A:C | K223N | 0.999 |
| 2:218873416:A:T | K223N | 0.999 |
| 2:218873417:T:A | C224S | 0.999 |
| 2:218873418:G:C | C224S | 0.999 |
| 2:218873458:G:C | W237C | 0.999 |
| 2:218873458:G:T | W237C | 0.999 |
| 2:218873475:T:G | F243C | 0.999 |
| 2:218873625:T:G | F293C | 0.999 |
| 2:218873771:T:A | C342S | 0.999 |
| 2:218873772:G:C | C342S | 0.999 |
| 2:218873778:T:C | F344S | 0.999 |
| 2:218871172:T:A | C76S | 0.998 |
| 2:218871173:G:C | C76S | 0.998 |
| 2:218871206:G:A | C87Y | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000805740 (2:218870565 G>A,T), RS1000900154 (2:218861142 G>C), RS1000925958 (2:218861510 T>C), RS1000939744 (2:218870300 A>G), RS1000974096 (2:218874646 G>A), RS1001088908 (2:218867508 G>A), RS1001128147 (2:218863771 C>A,T), RS1001140940 (2:218872294 G>C), RS1001269714 (2:218867744 C>T), RS1001276552 (2:218872048 G>T), RS1001373465 (2:218865544 C>A,T), RS1001433881 (2:218864008 G>T), RS1001638733 (2:218858787 A>G), RS1001874697 (2:218869316 A>C,G), RS1001897234 (2:218862463 A>T)
Disease associations
OMIM: gene MIM:604663 | disease phenotypes: MIM:213700, MIM:600057
GenCC curated gene-disease
Mondo (2): cerebrotendinous xanthomatosis (MONDO:0008948), bladder exstrophy-epispadias-cloacal exstrophy complex (MONDO:0700039)
Orphanet (2): Cerebrotendinous xanthomatosis (Orphanet:909), Classic bladder exstrophy (Orphanet:93930)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006661_114 | Male-pattern baldness | 2.000000e-16 |
| GCST008839_251 | Height | 4.000000e-09 |
| GCST011345_32 | Triglyceride levels | 4.000000e-08 |
| GCST011348_45 | High density lipoprotein cholesterol levels | 1.000000e-14 |
| GCST90002405_2 | Reticulocyte count | 5.000000e-10 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004530 | triglyceride measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0007986 | reticulocyte count |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D019294 | Xanthomatosis, Cerebrotendinous | C16.320.565.398.925; C18.452.584.563.925; C18.452.584.750.975; C18.452.648.398.925 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression | 4 |
| Tetrachlorodibenzodioxin | increases expression | 3 |
| Acetaminophen | decreases expression | 2 |
| Benzo(a)pyrene | increases expression, increases methylation | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, increases expression | 2 |
| ETC-159 | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| propionaldehyde | decreases expression | 1 |
| trichostatin A | increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| sulforaphane | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | decreases expression, decreases reaction | 1 |
| mercuric bromide | affects cotreatment, increases expression | 1 |
| dinophysistoxin 1 | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | increases expression, affects cotreatment | 1 |
| theaflavin-3,3’-digallate | affects expression | 1 |
| 2,3,5-trichloro-6-phenyl-(1,4)benzoquinone | decreases expression | 1 |
| Panobinostat | affects cotreatment, increases expression | 1 |
| Microplastics | increases abundance, increases expression | 1 |
| Cadmium | increases expression | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Lipopolysaccharides | decreases expression, decreases reaction | 1 |
Cellosaurus cell lines
3 cell lines: 3 embryonic stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A7W3 | SEES3-1V human WNT6, clone1 | Embryonic stem cell | Male |
| CVCL_A7W4 | SEES3-1V human WNT6, clone2 | Embryonic stem cell | Male |
| CVCL_A7W5 | SEES3-1V human WNT6, clone3 | Embryonic stem cell | Male |
Clinical trials (associated diseases)
10 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04270682 | PHASE3 | COMPLETED | Study to Evaluate Patients With Cerebrotendinous Xanthomatosis (RESTORE) |
| NCT00004346 | PHASE2 | UNKNOWN | Phase II Study of Cholesterol- and Cholestanol-Free Diet, Lovastatin, and Chenodeoxycholic Acid for Cerebrotendinous Xanthomatosis |
| NCT00018694 | Not specified | WITHDRAWN | Cholestanol in Humans |
| NCT00935389 | Not specified | COMPLETED | Prospective Study of TW in the Treatment of LN Type V With Gross Proteinuria |
| NCT01613898 | Not specified | UNKNOWN | Evaluation of Carotid IMT and Atherogenic Risk Factors in Patients With Cerebrotendinous Xanthomatosis |
| NCT02638220 | Not specified | COMPLETED | Cerebrotendinous Xanthomatosis (CTX) Prevalence Study |
| NCT02699190 | Not specified | COMPLETED | LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies |
| NCT03047369 | Not specified | RECRUITING | The Myelin Disorders Biorepository Project |
| NCT03584893 | Not specified | UNKNOWN | The Prevalence of CTX Disorder in Juvenile Cataract Cases in Turkey |
| NCT05368038 | Not specified | ENROLLING_BY_INVITATION | ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): alopecia, bladder exstrophy-epispadias-cloacal exstrophy complex, cerebrotendinous xanthomatosis