WNT7B

Summary

WNT7B (Wnt family member 7B, HGNC:12787) is a protein-coding gene on chromosome 22q13.31, encoding Protein Wnt-7b (P56706). Ligand for members of the frizzled family of seven transmembrane receptors that functions in the canonical Wnt/beta-catenin signaling pathway.

This gene is a member of the WNT gene family, which consists of structurally related genes that 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. Among members of the human WNT family, this gene product is most similar to WNT7A protein.

Source: NCBI Gene 7477 — RefSeq curated summary.

At a glance

• Gene–disease (curated): multiple congenital anomalies/dysmorphic syndrome (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 26
• Clinical variants (ClinVar): 58 total — 4 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 20
• MANE Select transcript: NM_058238

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12787
Approved symbol	WNT7B
Name	Wnt family member 7B
Location	22q13.31
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000188064
Ensembl biotype	protein_coding
OMIM	601967
Entrez	7477

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 5 protein_coding

ENST00000339464, ENST00000409496, ENST00000410058, ENST00000410089, ENST00000428540

RefSeq mRNA: 2 — MANE Select: NM_058238 NM_001410806, NM_058238

CCDS: CCDS33667, CCDS93177

Canonical transcript exons

ENST00000339464 — 4 exons

Exon	Start	End
ENSE00001376372	45931098	45931369
ENSE00001384765	45920366	45923335
ENSE00001487373	45976684	45977162
ENSE00003478436	45949920	45950146

Expression profiles

Bgee: expression breadth ubiquitous, 122 present calls, max score 88.97.

FANTOM5 (CAGE): breadth broad, TPM avg 4.0271 / max 104.5485, expressed in 654 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
194591	2.0578	394
194588	0.8970	304
194590	0.3630	217
194593	0.3512	178
194592	0.2486	149
194587	0.0641	32
194589	0.0455	22

Top tissues by expression

243 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
vena cava	UBERON:0004087	88.97	silver quality
buccal mucosa cell	CL:0002336	86.83	silver quality
parotid gland	UBERON:0001831	86.29	silver quality
olfactory segment of nasal mucosa	UBERON:0005386	83.19	gold quality
lateral nuclear group of thalamus	UBERON:0002736	83.11	gold quality
lateral globus pallidus	UBERON:0002476	83.00	gold quality
cortical plate	UBERON:0005343	82.76	gold quality
body of tongue	UBERON:0011876	82.28	gold quality
pharyngeal mucosa	UBERON:0000355	81.67	silver quality
pons	UBERON:0000988	80.82	gold quality
pericardium	UBERON:0002407	80.68	silver quality
inferior vagus X ganglion	UBERON:0005363	80.06	silver quality
substantia nigra pars reticulata	UBERON:0001966	80.04	gold quality
skin of abdomen	UBERON:0001416	80.01	gold quality
substantia nigra pars compacta	UBERON:0001965	80.01	gold quality
cardia of stomach	UBERON:0001162	79.83	gold quality
nipple	UBERON:0002030	79.71	silver quality
cerebellar vermis	UBERON:0004720	79.66	gold quality
heart right ventricle	UBERON:0002080	79.49	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	79.31	gold quality
skin of leg	UBERON:0001511	79.23	gold quality
tongue	UBERON:0001723	78.74	gold quality
renal medulla	UBERON:0000362	78.61	silver quality
esophagus mucosa	UBERON:0002469	78.25	gold quality
amygdala	UBERON:0001876	78.11	gold quality
zone of skin	UBERON:0000014	77.70	gold quality
superior surface of tongue	UBERON:0007371	77.69	gold quality
biceps brachii	UBERON:0001507	77.66	gold quality
nasal cavity epithelium	UBERON:0005384	76.54	silver quality
lower esophagus mucosa	UBERON:0035834	76.18	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.87
E-HCAD-30	no	193.98

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AR, ATF3, EN2, FOXA2, GATA6, GLI3, MSX2, NKX2-1, TTF1

miRNA regulators (miRDB)

106 targeting WNT7B, 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-6127	100.00	66.76	2188
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-4525	99.94	64.38	675
HSA-MIR-5010-5P	99.94	64.11	705
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-4271	99.88	68.32	2244

Literature-anchored findings (GeneRIF, showing 35)

• These data demonstrate that mesenchymal stem cells from mice and humans produce Wnt proteins and TGF-beta1 that respectively stimulate lung fibroblast proliferation and matrix production. (PMID:19734317)
• Results demonstrated significant up-regulation of WNT-3, WNT-4, WNT-5B, WNT-7B, WNT-9A, WNT-10A, and WNT-16B in patients with CLL compared to normal subjects. (PMID:19863181)
• Wnt7B was expressed at high concentrations in regions of active hyperplasia, metaplasia, and fibrotic change in idiopathic pulmonary fibrosis patients. (PMID:22838404)
• Pdgf signaling potentiates Wnt2-Wnt7b signaling to promote high levels of Wnt activity in mesenchymal progenitors that is required for proper development of endoderm-derived organs, such as the lung (PMID:22949635)
• Results suggest that AR-regulated WNT7B signaling is critical for the growth of CRPC and development of the osteoblastic bone response characteristic of advanced prostate cancer. (PMID:23386686)
• WNT7B can serve as a primary determinant of differential Wnt/beta-catenin activation in pancreatic adenocarcinoma. (PMID:23416978)
• Results illustrated the critical role of myeloid WNT7B in tumor progression, acting at the levels of angiogenesis, invasion, and metastasis. (PMID:24638982)
• WNT7B as a novel susceptibility gene for axial length and corneal curvature and is associated with myopia and extreme myopia. (PMID:25823570)
• Forced overexpression of Wnt7B with or without TGFB1 treatment increased Wnt5A protein expression in normal human smooth muscle cells and fibroblasts but not in Idiopathic Pulmonary Fibrosis myofibroblasts where Wnt5A was already highly expressed. (PMID:26538547)
• the present study detected abnormal upregulation in the levels of Wnt2b and Wnt7b, and hypothesized that the alterations may be due to the ectopic opening of chromatin structure. (PMID:26548512)
• We identified a novel genome-wide significant association rs10453441 in the WNT7B gene on chromosome 22 as a novel SNP for central corneal thickness in Latinos. (PMID:28171582)
• Results provide evidence that Olig2 promotes Wnt7b expression in glioma cells. (PMID:29681511)
• The results indicate robust evidence for association between WNT7B SNPs and central corneal thickness in South Indian pedigrees, and suggest that WNT7B SNPs can have population-specific effects on ocular quantitative traits. (PMID:29847655)
• Study demonstrates that GATA4 functions as a tumor suppressor in lung cancer. Mechanistically, GATA4 upregulates multiple miRNAs targeting TGFB2 mRNA and causes ensuing WNT7B downregulation and eventually triggers cell senescence. Targeting the TGF-beta signaling provides a potential way for the treatment of GATA4-deficient lung cancer. (PMID:30971692)
• Study shows for the first time significant ultraviolet B induced upregulation of WNT7B, WNT10B and TCF7L2 in patients with psoriasis and suggests a potential role of these genes in psoriasis pathogenesis. (PMID:31089877)
• High WNT7B expression is associated with glioma. (PMID:31304776)
• miR-342-5p inhibits osteosarcoma cell growth, migration, invasion, and sensitivity to Doxorubicin through targeting Wnt7b. (PMID:31601147)
• Analysis of Wnt7B and BMP4 expression patterns in congenital pulmonary airway malformation. (PMID:31962011)
• Wnt7b-induced Sox11 functions enhance self-renewal and osteogenic commitment of bone marrow mesenchymal stem cells. (PMID:32346881)
• Association of WNT7B and RSPO1 with Axial Length in School Children. (PMID:32761137)
• TCP1 regulates Wnt7b/beta-catenin pathway through P53 to influence the proliferation and migration of hepatocellular carcinoma cells. (PMID:32843620)
• Combined Omics Approaches Reveal the Roles of Non-canonical WNT7B Signaling and YY1 in the Proliferation of Human Pancreatic Progenitor Cells. (PMID:33125912)
• Extracellular vesicular Wnt7b mediates HPV E6-induced cervical cancer angiogenesis by activating the beta-catenin signaling pathway. (PMID:33234148)
• Epigenetic regulation of Wnt7b expression by the cis-acting long noncoding RNA Lnc-Rewind in muscle stem cells. (PMID:33432928)
• A WNT7B-m(6)A-TCF7L2 positive feedback loop promotes gastric cancer progression and metastasis. (PMID:33526767)
• Activation of WNT7b autocrine eases metastasis of colorectal cancer via epithelial to mesenchymal transition and predicts poor prognosis. (PMID:33607955)
• Fzd7/Wnt7b signaling contributes to stemness and chemoresistance in pancreatic cancer. (PMID:33934523)
• WNT7B represses epithelial-mesenchymal transition and stem-like properties in bladder urothelial carcinoma. (PMID:34562599)
• Evaluation of WNT Signaling Pathway Gene Variants WNT7B rs6519955, SFRP4 rs17171229 and RSPO2 rs611744 in Patients with Dupuytren’s Contracture. (PMID:34573275)
• The miR-34a/WNT7B modulates the sensitivity of cholangiocarcinoma cells to p53-mediated photodynamic therapy toxicity. (PMID:34999254)
• Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans. (PMID:35790350)
• Inhibition of Wnt7b reduces the proliferation, invasion, and migration of colorectal cancer cells. (PMID:36472725)
• EZH2 interacts with HP1BP3 to epigenetically activate WNT7B that promotes temozolomide resistance in glioblastoma. (PMID:36517590)
• A founder variant expands the phenotype of WNT7B-related PDAC syndrome. (PMID:38417950)
• LINC01605 promotes malignant phenotypes of cervical cancer via miR-149-3p/WNT7B axis. (PMID:38734188)

Cross-species orthologs

9 orthologs

Organism	Symbol	Gene ID
danio_rerio	wnt7bb	ENSDARG00000071107
mus_musculus	Wnt7b	ENSMUSG00000022382
rattus_norvegicus	Wnt7b	ENSRNOG00000015750
drosophila_melanogaster	Wnt2	FBGN0004360
drosophila_melanogaster	Wnt5	FBGN0010194
drosophila_melanogaster	Wnt10	FBGN0031903
caenorhabditis_elegans		WBGENE00000857
caenorhabditis_elegans		WBGENE00000858
caenorhabditis_elegans	lin-44	WBGENE00003029

Paralogs (18): WNT16 (ENSG00000002745), WNT8A (ENSG00000061492), WNT8B (ENSG00000075290), WNT11 (ENSG00000085741), WNT2 (ENSG00000105989), WNT3 (ENSG00000108379), WNT5B (ENSG00000111186), WNT5A (ENSG00000114251), WNT6 (ENSG00000115596), WNT1 (ENSG00000125084), WNT2B (ENSG00000134245), WNT10A (ENSG00000135925), WNT9A (ENSG00000143816), WNT3A (ENSG00000154342), WNT7A (ENSG00000154764), WNT9B (ENSG00000158955), WNT4 (ENSG00000162552), WNT10B (ENSG00000169884)

Protein

Protein identifiers

Protein Wnt-7b — P56706 (reviewed: P56706)

All UniProt accessions (5): P56706, A8K0G1, B8A595, B8A597, B8A598

UniProt curated annotations — full annotation on UniProt →

Function. Ligand for members of the frizzled family of seven transmembrane receptors that functions in the canonical Wnt/beta-catenin signaling pathway. Required for normal fusion of the chorion and the allantois during placenta development. Required for central nervous system (CNS) angiogenesis and blood-brain barrier regulation.

Subunit / interactions. Forms a soluble 1:1 complex with AFM; this prevents oligomerization and is required for prolonged biological activity. The complex with AFM may represent the physiological form in body fluids. Interacts with FZD1 and FZD10. Interacts with FZD4 (in vitro). Interacts with PORCN. Interacts with glypican GPC3. Interacts (via intrinsically disordered linker region) with RECK; interaction with RECK confers ligand selectivity for Wnt7 in brain endothelial cells and allows these cells to selectively respond to Wnt7.

Subcellular location. Secreted. Extracellular space. Extracellular matrix.

Tissue specificity. Moderately expressed in fetal brain, weakly expressed in fetal lung and kidney, and faintly expressed in adult brain, lung and prostate.

Post-translational modifications. Palmitoleoylation is required for efficient binding to frizzled receptors. Depalmitoleoylation leads to Wnt signaling pathway inhibition.

Domain organisation. The intrinsically disordered linker region is required for recognition by RECK in brain endothelial cells.

Similarity. Belongs to the Wnt family.

RefSeq proteins (2): NP_001397735, NP_478679* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005817	Wnt	Family
IPR013300	Wnt7	Family
IPR018161	Wnt_CS	Conserved_site
IPR043158	Wnt_C	Homologous_superfamily

Pfam: PF00110

UniProt features (19 total): disulfide bond 11, glycosylation site 3, signal peptide 1, chain 1, sequence conflict 1, region of interest 1, lipid moiety-binding region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P56706-F1	90.71	0.70

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): 206

Disulfide bonds (11): 200–214, 202–209, 278–309, 294–304, 308–348, 324–339, 326–336, 331–332, 73–84, 123–131, 133–152

Glycosylation sites (3): 83, 127, 295

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: 301 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_LABYRINTHINE_LAYER_DEVELOPMENT, GOBP_LENS_FIBER_CELL_DIFFERENTIATION, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_LUNG_EPITHELIUM_DEVELOPMENT, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, GOBP_METANEPHROS_DEVELOPMENT, GOBP_CARTILAGE_DEVELOPMENT, KEGG_HEDGEHOG_SIGNALING_PATHWAY, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_EPITHELIAL_CELL_DEVELOPMENT, GOBP_METANEPHRIC_EPITHELIUM_DEVELOPMENT, PEREZ_TP63_TARGETS

GO Biological Process (46): in utero embryonic development (GO:0001701), metanephros morphogenesis (GO:0003338), Wnt signaling pathway (GO:0016055), establishment or maintenance of polarity of embryonic epithelium (GO:0016332), forebrain regionalization (GO:0021871), central nervous system vasculogenesis (GO:0022009), neuron differentiation (GO:0030182), lung development (GO:0030324), intracellular oxygen homeostasis (GO:0032364), regulation of cell projection size (GO:0032536), chemoattraction of dopaminergic neuron axon (GO:0036516), homeostatic process (GO:0042592), cell fate commitment (GO:0045165), positive regulation of osteoblast differentiation (GO:0045669), positive regulation of JNK cascade (GO:0046330), fibroblast proliferation (GO:0048144), embryonic organ development (GO:0048568), synapse organization (GO:0050808), response to glucocorticoid (GO:0051384), canonical Wnt signaling pathway (GO:0060070), Wnt signaling pathway, planar cell polarity pathway (GO:0060071), lung morphogenesis (GO:0060425), lung epithelium development (GO:0060428), lobar bronchus development (GO:0060482), trachea cartilage morphogenesis (GO:0060535), developmental growth involved in morphogenesis (GO:0060560), embryonic placenta morphogenesis (GO:0060669), chorio-allantoic fusion (GO:0060710), mammary gland epithelium development (GO:0061180), lens fiber cell development (GO:0070307), cellular response to retinoic acid (GO:0071300), renal inner medulla development (GO:0072053), renal outer medulla development (GO:0072054), outer medullary collecting duct development (GO:0072060), inner medullary collecting duct development (GO:0072061), stem cell proliferation (GO:0072089), metanephric collecting duct development (GO:0072205), metanephric epithelium development (GO:0072207), metanephric loop of Henle development (GO:0072236), multicellular organism development (GO:0007275)

GO Molecular Function (5): frizzled binding (GO:0005109), cytokine activity (GO:0005125), receptor ligand activity (GO:0048018), signaling receptor binding (GO:0005102), protein binding (GO:0005515)

GO Cellular Component (7): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), endoplasmic reticulum lumen (GO:0005788), Golgi lumen (GO:0005796), plasma membrane (GO:0005886), endocytic vesicle membrane (GO:0030666), 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
animal organ development	2
intracellular organelle lumen	2
chordate embryonic development	1
metanephros development	1
kidney morphogenesis	1
cell surface receptor signaling pathway	1
establishment or maintenance of cell polarity	1
morphogenesis of embryonic epithelium	1
regionalization	1
forebrain development	1
vasculogenesis	1
generation of neurons	1
respiratory tube development	1
respiratory system development	1
intracellular chemical homeostasis	1
regulation of cellular component size	1
dopaminergic neuron axon guidance	1
chemoattraction of axon	1
biological_process	1
cellular developmental process	1
osteoblast differentiation	1
positive regulation of cell differentiation	1
regulation of osteoblast differentiation	1
JNK cascade	1
positive regulation of MAPK cascade	1
regulation of JNK cascade	1
cell population proliferation	1
embryo development	1
cell junction organization	1
response to corticosteroid	1
Wnt signaling pathway	1
G protein-coupled receptor binding	1
receptor ligand activity	1
signaling receptor binding	1
signal transduction	1
signaling receptor activator activity	1
protein binding	1
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1648 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
WNT7B	FZD4	Q9ULV1	958
WNT7B	LRP5	O75197	944
WNT7B	FZD10	Q9ULW2	879
WNT7B	FZD7	O75084	878
WNT7B	SFRP1	Q8N474	875
WNT7B	LRP6	O75581	866
WNT7B	FZD2	Q14332	837
WNT7B	FZD1	Q9UP38	835
WNT7B	FZD9	O00144	832
WNT7B	FZD3	Q9NPG1	818
WNT7B	FZD6	O60353	797
WNT7B	FZD5	Q13467	795
WNT7B	AXIN2	Q9Y2T1	768
WNT7B	DVL1	O14640	768
WNT7B	FZD8	Q9H461	738

IntAct

15 interactions, top by confidence:

A	B	Type	Score
WNT7B	Reck	psi-mi:“MI:2364”(proximity)	0.600
WNT7B	Reck	psi-mi:“MI:0407”(direct interaction)	0.600
WNT4	TOMM40	psi-mi:“MI:0914”(association)	0.530
WNT7A	LDLR	psi-mi:“MI:0914”(association)	0.530
WNT7B	AFM	psi-mi:“MI:0915”(physical association)	0.400
WNT7B	WLS	psi-mi:“MI:0915”(physical association)	0.400
ELOC	WNT7B	psi-mi:“MI:0915”(physical association)	0.370
CUL3	WNT7B	psi-mi:“MI:0915”(physical association)	0.370
WNT7B	CASK	psi-mi:“MI:0915”(physical association)	0.370
WNT4	HLA-B	psi-mi:“MI:0914”(association)	0.350

BioGRID (13): WNT7B (Affinity Capture-MS), WNT7B (Affinity Capture-MS), WNT7B (Affinity Capture-MS), WNT7B (Affinity Capture-RNA), WNT7B (Affinity Capture-RNA), WNT7B (Proximity Label-MS), WNT7B (Negative Genetic), WNT7B (Affinity Capture-MS), WNT7B (Affinity Capture-MS), WNT7B (Affinity Capture-RNA), WNT7B (Two-hybrid), WNT7B (Two-hybrid), WNT7B (Two-hybrid)

ESM2 similar proteins: A0M8S1, A0M8T2, A1X153, A4D7S0, O00755, P09544, P21552, P24383, P28047, P28465, P56706, P87387, Q07DV4, Q07DW8, Q07DX7, Q07DY7, Q07DZ8, Q07E18, Q07E31, Q07E44, Q09YI4, Q09YJ6, Q09YK7, Q09YN1, Q108U2, Q1KYK4, Q1KYK5, Q1KYK6, Q1KYK7, Q1KYK9, Q1KYL1, Q1KYL3, Q2IBB0, Q2IBB5, Q2IBE2, Q2IBF4, Q2IBG1, Q2QL76, Q2QL85, Q2QL96

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

9 interactions.

A	Effect	B	Mechanism
WNT7B	up-regulates	FZD3	binding
WNT7B	up-regulates	LRP5	binding
WNT7B	up-regulates	FZD1	binding
WNT7B	up-regulates	FZD10	binding
WNT7B	up-regulates	MYOD1
hsa-miR-329-5p	“down-regulates quantity by repression”	WNT7B	“post transcriptional regulation”
hsa-miR-410-5p	“down-regulates quantity by repression”	WNT7B	“post transcriptional regulation”
SOSTDC1	“down-regulates activity”	WNT7B

Disease & clinical

Clinical variants and AI predictions

ClinVar

58 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	2
Uncertain significance	40
Likely benign	4
Benign	2

Top pathogenic / likely-pathogenic (6)

Variant ID	HGVS	Classification
1299461	NM_058238.3(WNT7B):c.225C>G (p.Tyr75Ter)	Pathogenic
1299462	NM_058238.3(WNT7B):c.562G>A (p.Gly188Ser)	Pathogenic
437887	NM_058238.3(WNT7B):c.292C>T (p.Arg98Ter)	Pathogenic
4686622	NM_058238.3(WNT7B):c.324C>G (p.Tyr108Ter)	Pathogenic
437886	NM_058238.3(WNT7B):c.739C>T (p.Arg247Trp)	Likely pathogenic
4686623	NM_058238.3(WNT7B):c.668_669dup (p.Val224fs)	Likely pathogenic

SpliceAI

1107 predictions. Top by Δscore:

Variant	Effect	Δscore
22:45931100:T:A	donor_gain	1.0000
22:45931366:CTCC:C	acceptor_gain	1.0000
22:45931367:TCC:T	acceptor_gain	1.0000
22:45931368:CCC:C	acceptor_gain	1.0000
22:45949919:CCTA:C	donor_gain	1.0000
22:45949922:A:AC	donor_gain	1.0000
22:45949923:C:CC	donor_gain	1.0000
22:45949935:G:A	donor_gain	1.0000
22:45950142:GTGCT:G	acceptor_gain	1.0000
22:45950143:TGCT:T	acceptor_gain	1.0000
22:45950143:TGCTC:T	acceptor_loss	1.0000
22:45950144:GCT:G	acceptor_gain	1.0000
22:45950145:CT:C	acceptor_gain	1.0000
22:45950145:CTCTG:C	acceptor_gain	1.0000
22:45950146:TC:T	acceptor_gain	1.0000
22:45950147:C:A	acceptor_gain	1.0000
22:45950147:C:CA	acceptor_loss	1.0000
22:45950147:C:CC	acceptor_gain	1.0000
22:45950148:T:C	acceptor_loss	1.0000
22:45950149:G:C	acceptor_gain	1.0000
22:45950149:G:GC	acceptor_gain	1.0000
22:45923333:AACC:A	acceptor_loss	0.9900
22:45923334:ACCT:A	acceptor_loss	0.9900
22:45923335:CCTG:C	acceptor_loss	0.9900
22:45923337:T:G	acceptor_loss	0.9900
22:45931091:ACCCT:A	donor_loss	0.9900
22:45931092:CCCTA:C	donor_loss	0.9900
22:45931093:CCTA:C	donor_loss	0.9900
22:45931094:CTAC:C	donor_loss	0.9900
22:45931095:TAC:T	donor_loss	0.9900

AlphaMissense

2287 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:45922899:C:G	C336S	1.000
22:45922900:A:T	C336S	1.000
22:45922916:C:A	W330C	1.000
22:45922916:C:G	W330C	1.000
22:45922922:G:C	F328L	1.000
22:45922922:G:T	F328L	1.000
22:45922923:A:C	F328C	1.000
22:45922924:A:G	F328L	1.000
22:45922929:C:G	C326S	1.000
22:45922930:A:T	C326S	1.000
22:45923025:C:G	C294S	1.000
22:45923026:A:T	C294S	1.000
22:45923261:C:A	W215C	1.000
22:45923261:C:G	W215C	1.000
22:45923264:G:C	C214W	1.000
22:45923265:C:G	C214S	1.000
22:45923265:C:T	C214Y	1.000
22:45923266:A:G	C214R	1.000
22:45923266:A:T	C214S	1.000
22:45923280:C:G	C209S	1.000
22:45923280:C:T	C209Y	1.000
22:45923281:A:T	C209S	1.000
22:45923296:C:A	G204C	1.000
22:45923301:C:G	C202S	1.000
22:45923302:A:T	C202S	1.000
22:45923307:C:G	C200S	1.000
22:45923308:A:T	C200S	1.000
22:45931213:C:G	C152S	1.000
22:45931214:A:T	C152S	1.000
22:45931221:C:A	W149C	1.000

dbSNP variants (sampled 300 via entrez): RS1000009686 (22:45943521 G>A,T), RS1000057580 (22:45978341 G>T), RS1000111868 (22:45966899 TC>T), RS1000143017 (22:45966664 C>T), RS1000206807 (22:45955824 C>T), RS1000278032 (22:45943010 G>A), RS1000304911 (22:45976045 CGGGCCCA>C,CGGGCCCAGGGCCCA), RS1000338612 (22:45975913 A>G,T), RS1000366284 (22:45978523 A>G), RS1000367451 (22:45929072 G>A), RS1000452035 (22:45931816 G>A,C), RS1000467223 (22:45959707 C>T), RS1000497172 (22:45924817 A>C), RS1000544173 (22:45954890 C>T), RS1000554165 (22:45939026 C>A)

Disease associations

OMIM: gene MIM:601967 | disease phenotypes: MIM:601186

GenCC curated gene-disease

Disease	Classification	Inheritance
multiple congenital anomalies/dysmorphic syndrome	Strong	Autosomal recessive
Tourette syndrome	No Known Disease Relationship	Unknown

Mondo (3): Matthew-Wood syndrome (MONDO:0011010), multiple congenital anomalies/dysmorphic syndrome (MONDO:0019042), Tourette syndrome (MONDO:0007661)

Orphanet (2): Matthew-Wood syndrome (Orphanet:2470), Microphthalmia-anophthalmia-coloboma (Orphanet:98555)

HPO phenotypes

20 total (20 of 20 shown, HPO-id order):

HPO	Term
HP:0000028	Cryptorchidism
HP:0000076	Vesicoureteral reflux
HP:0000085	Horseshoe kidney
HP:0000089	Renal hypoplasia
HP:0000130	Abnormality of the uterus
HP:0000369	Low-set ears
HP:0000528	Anophthalmia
HP:0000568	Microphthalmia
HP:0000776	Congenital diaphragmatic hernia
HP:0001249	Intellectual disability
HP:0001252	Hypotonia
HP:0001508	Failure to thrive
HP:0001511	Intrauterine growth retardation
HP:0001734	Annular pancreas
HP:0002088	Abnormal lung morphology
HP:0002089	Pulmonary hypoplasia
HP:0025408	Abnormal spleen morphology
HP:0030680	Abnormal cardiovascular system morphology
HP:0100800	Aplasia/Hypoplasia of the pancreas
HP:0100867	Duodenal stenosis

GWAS associations

26 associations (top):

Study	Trait	p-value
GCST001144_12	Dupuytren’s disease	3.000000e-33
GCST002805_8	Body mass index	5.000000e-06
GCST002834_1	Corneal curvature	3.000000e-40
GCST003856_3	Central corneal thickness	6.000000e-09
GCST004601_211	Red blood cell count	3.000000e-16
GCST004604_9	Hematocrit	9.000000e-19
GCST004615_77	Hemoglobin concentration	4.000000e-16
GCST004858_28	Dupuytren’s disease	2.000000e-30
GCST005790_46	Rosacea symptom severity	8.000000e-06
GCST006049_1	Central corneal thickness	2.000000e-09
GCST006049_2	Central corneal thickness	2.000000e-07
GCST006050_1	Central corneal thickness	2.000000e-11
GCST006976_27	Macular thickness	8.000000e-20
GCST006979_833	Heel bone mineral density	1.000000e-13
GCST006979_834	Heel bone mineral density	7.000000e-15
GCST009462_15	Optic disc size	1.000000e-09
GCST009462_6	Optic disc size	4.000000e-14
GCST010002_84	Refractive error	1.000000e-26
GCST010083_116	Hemoglobin levels	5.000000e-40
GCST010118_82	Type 2 diabetes	4.000000e-09
GCST90000025_891	Appendicular lean mass	7.000000e-15
GCST90002383_115	Hematocrit	3.000000e-10
GCST90002383_116	Hematocrit	1.000000e-43
GCST90002384_511	Hemoglobin	2.000000e-37
GCST90002403_709	Red blood cell count	2.000000e-33
GCST90016669_17	Pancreas volume	1.000000e-09

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0004229	Dupuytren Contracture
EFO:0005937	longitudinal BMI measurement
EFO:0004345	corneal topography
EFO:0005213	central corneal thickness
EFO:0004305	erythrocyte count
EFO:0004348	hematocrit
EFO:0004509	hemoglobin measurement
EFO:0009180	rosacea severity measurement
EFO:0009270	heel bone mineral density
EFO:0004980	appendicular lean mass

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D005879	Tourette Syndrome	C10.228.140.079.898; C10.228.662.825.800; C10.574.500.850; C16.320.400.820; F03.625.992.850
C537768	Anophthalmia with pulmonary hypoplasia (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

62 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases expression, increases methylation	4
Aflatoxin B1	increases expression, increases methylation	3
lasiocarpine	increases expression	2
methyleugenol	increases expression	2
S-(1,2-dichlorovinyl)cysteine	decreases expression	2
(+)-JQ1 compound	decreases expression	2
Calcitriol	decreases expression, increases expression, affects cotreatment	2
Chelating Agents	affects binding, increases expression	2
Copper	affects binding, increases expression	2
N-Nitrosopyrrolidine	increases expression	2
Valproic Acid	decreases expression	2
Cadmium Chloride	increases expression	2
Acrylamide	decreases expression	2
sotorasib	affects cotreatment, increases expression	1
ethylbenzene	affects cotreatment, decreases expression, increases methylation	1
uranyl acetate	affects expression	1
propionaldehyde	increases expression	1
ethyl-p-hydroxybenzoate	increases expression	1
trichostatin A	decreases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
beta-lapachone	increases expression	1
sodium arsenite	increases expression	1
3,4,5,3’,4’-pentachlorobiphenyl	increases expression	1
ochratoxin A	increases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	decreases methylation, increases methylation	1
benazol P	affects expression	1
fipronil	decreases expression	1
2-palmitoylglycerol	increases expression	1
clothianidin	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D9VV	Ubigene HEK293 WNT7B KO	Transformed cell line	Female

Clinical trials (associated diseases)

183 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00152750	PHASE4	UNKNOWN	Study of Clonidine on Sleep Architecture in Children With Tourette’s Syndrome (TS) and Comorbid ADHD
NCT00226824	PHASE4	TERMINATED	Safety Study of Galantamine in Tic Disorders
NCT00241176	PHASE4	COMPLETED	Open Label Trial of Aripiprazole in Children and Adolescents With Tourette’s Disorder
NCT00370838	PHASE4	COMPLETED	Comparison of Keppra and Clonidine in the Treatment of Tics
NCT01018056	PHASE4	COMPLETED	Developing New Treatments for Tourette Syndrome: Therapeutic Trials With Modulators of Glutamatergic Neurotransmission
NCT01547000	PHASE4	COMPLETED	Guanfacine in Children With Tic Disorders
NCT03239210	PHASE4	COMPLETED	Effects of Ondansetron in Obsessive-compulsive and Tic Disorders
NCT00004376	PHASE3	COMPLETED	Phase III Randomized, Double-Blind, Placebo-Controlled Study of Guanfacine for Tourette Syndrome and Attention Deficit Hyperactivity Disorder
NCT00206323	PHASE3	COMPLETED	A Randomized, Placebo-controlled, Tourette Syndrome Study.
NCT00206336	PHASE3	COMPLETED	An Open-label Study to Determine the Efficacy and Safety of Topiramate in the Treatment of Tourette Syndrome.
NCT00478842	PHASE3	COMPLETED	Pallidal Stimulation and Gilles de la Tourette Syndrome
NCT00681863	PHASE3	TERMINATED	Open-label Extension Study of Pramipexole in the Treatment of Children and Adolescents With Tourette Syndrome
NCT01501695	PHASE3	COMPLETED	Phase III Study of 5LGr to Treat Tic Disorder
NCT03087201	PHASE3	COMPLETED	CANNAbinoids in the Treatment of TICS (CANNA-TICS)
NCT03487783	PHASE3	COMPLETED	Aripiprazole Oral Solution in the Treatment of Children and Adolescents With Tourette’s Syndrome
NCT03567291	PHASE3	TERMINATED	Evaluation of Safety and Tolerability of Long-term TEV-50717 (Deutetrabenazine) for Treatment of Tourette Syndrome in Children and Adolescents
NCT03571256	PHASE3	COMPLETED	A Study to Test if TEV-50717 is Effective in Relieving Tics Associated With Tourette Syndrome (TS)
NCT06021522	PHASE3	ACTIVE_NOT_RECRUITING	A Study to Evaluate Long-term Safety of Ecopipam Tablets in Children, Adolescents and Adults With Tourette’s Disorder
NCT00004393	PHASE2	COMPLETED	Phase II Double Blind Placebo Controlled Trial of Risperidone in Tourette Syndrome
NCT00004652	PHASE2	COMPLETED	Phase II Pilot Controlled Study of Short Vs Longer Term Pimozide (Orap) Therapy in Tourette Syndrome
NCT00231985	PHASE2	COMPLETED	Effectiveness of Behavior Therapy and Psychosocial Therapy for the Treatment of Tourette Syndrome and Chronic Tic Disorder
NCT00311909	PHASE2	COMPLETED	Thalamic Deep Brain Stimulation for Tourette Syndrome
NCT00529308	PHASE2	COMPLETED	Transcranial Magnetic Stimulation (TMS) for Individuals With Tourette’s Syndrome
NCT00558467	PHASE2	COMPLETED	Pramipexole Pilot Phase II Study in Children and Adolescents With Tourette Disorder According to DSM-IV Criteria
NCT01043549	PHASE2	TERMINATED	Repetitive Transcranial Magnetic Stimulation of the Posterior Parietal Cortex in Patients Suffering From Gilles de la Tourette Syndrome
NCT01133353	PHASE2	WITHDRAWN	A Study of the Effectiveness and Safety of Tetrabenazine MR in Pediatric Subjects With Tourette’s Syndrome
NCT01475383	PHASE2	WITHDRAWN	Study Evaluating The Safety And Efficacy Of PF-03654746 In Adult Subjects With Tourette’s Syndrome
NCT01647269	PHASE2	COMPLETED	A Trial of Bilateral Deep Brain Stimulation to the Globus Pallidus Internum in Tourette Syndrome
NCT01904773	PHASE2	COMPLETED	Safety, Tolerability, Pharmacokinetic, and Efficacy Study of AZD5213 in Adolescents With Tourette’s Disorder
NCT02102698	PHASE2	COMPLETED	Ecopipam Treatment of Tourette’s Syndrome in Subjects 7-17 Years
NCT02217007	PHASE2	WITHDRAWN	A Trial Evaluating the Efficacy, Safety, and Pharmacokinetics of SNC-102 in Subjects With Tourette Syndrome
NCT02247206	PHASE2	COMPLETED	VoIP Delivered Behavior Therapy for Tourette Syndrome
NCT02581865	PHASE2	COMPLETED	Safety and Efficacy Study of NBI-98854 in Adults With Tourette Syndrome
NCT02619084	PHASE2	COMPLETED	Subthalamic Stimulation in Tourette’s Syndrome
NCT02679079	PHASE2	COMPLETED	Safety and Efficacy Study of NBI-98854 in Children and Adolescents With Tourette Syndrome
NCT02879578	PHASE2	COMPLETED	Safety and Tolerability Study of NBI-98854 for the Treatment of Subjects With Tourette Syndrome
NCT03066193	PHASE2	COMPLETED	Efficacy of a Therapeutic Combination of Dronabinol and PEA for Tourette Syndrome
NCT03247244	PHASE2	TERMINATED	Safety and Efficacy of Cannabis in Tourette Syndrome
NCT03325010	PHASE2	COMPLETED	Safety, Tolerability, and Efficacy of NBI-98854 for the Treatment of Pediatric Subjects With Tourette Syndrome
NCT03444038	PHASE2	COMPLETED	Open-Label Safety and Tolerability Study of NBI-98854 for the Treatment of Pediatric Subjects With Tourette Syndrome