Affinage

TSPAN12

Tetraspanin-12 · UniProt O95859

Length
305 aa
Mass
35.4 kDa
Annotated
2026-06-10
55 papers in source corpus 16 papers cited in narrative 16 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 5/6 claims corpus-supported (83%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

TSPAN12 is a tetraspanin co-receptor that selectively amplifies Norrin/β-catenin signaling and is essential for retinal vascular morphogenesis and blood-retina barrier (BRB) formation and maintenance (PMID:19837033, PMID:30354230). It functions as a dedicated component of the Norrin (NDP) receptor complex: TSPAN12 forms a direct transmembrane complex with FZD4 in the absence of ligand—its four-helix transmembrane bundle packs against FZD4 TM2 to promote cell-surface trafficking—while leaving its Norrin-binding C–D helices exposed [PMID:bio_10.1101_2025.09.25.678640]. Through its large extracellular loop it then engages Norrin, with a Norrin dimer binding two TSPAN12 molecules, assembling a quaternary Norrin-FZD4-LRP5/6-TSPAN12 signaling complex (PMID:42155446). By promoting receptor multimerization and ligand selectivity, TSPAN12 enhances Norrin/β-catenin but not Wnt/β-catenin transcriptional output, and can rescue signaling defects of Norrin and FZD4 mutations that destabilize the complex (PMID:19837033, PMID:28658627). Loss of endothelial TSPAN12 causes BRB breakdown with immunoglobulin extravasation, complement deposition, cystoid edema, and impaired electroretinogram b-waves, and BRB dysfunction is reversed by direct FZD4/LRP5 agonism, placing TSPAN12 upstream of basal β-catenin signaling [PMID:30354230, PMID:bio_10.1101_2025.07.22.666172]. FEVR-linked TSPAN12 mutations act by preventing incorporation into the receptor complex or by disrupting trafficking, defining TSPAN12 as a causative gene for familial exudative vitreoretinopathy (PMID:28658627, PMID:36453149). Beyond the retina, TSPAN12 stabilizes FZD4-LRP5 association to sustain β-catenin signaling in cancer cells and stromal fibroblasts, where it drives CXCL6 secretion and tumor progression, is degraded by the E3 ligase RNF152, and acts as a negative regulator of aldosterone secretion in adrenocortical cells (PMID:23955570, PMID:25512506, PMID:33602225, PMID:36458545).

Mechanistic history

Synthesis pass · year-by-year structured walk · 13 steps
  1. 2009 High

    Established TSPAN12 as a Norrin-pathway co-receptor by showing it specifically amplifies Norrin/β-catenin signaling and that its loss phenocopies Fzd4/Lrp5/Norrin mutants, answering whether tetraspanins participate in this receptor system.

    Evidence Mouse KO phenocopy, genetic epistasis, Co-IP, siRNA, luciferase reporters and overexpression rescue in retinal endothelial cells

    PMID:19837033

    Open questions at the time
    • Molecular basis of ligand selectivity (Norrin vs Wnt) not resolved
    • Direct binding interfaces undefined
    • Mechanism of receptor multimerization inferred, not structurally shown
  2. 2017 High

    Localized TSPAN12 function to its extracellular loops and showed it enhances FZD4 selectivity for Norrin, explaining how disease mutations and FZD4-destabilizing variants impair signaling.

    Evidence Reciprocal Co-IP, FEVR mutation analysis, in vitro signaling and Xenopus embryo rescue of FZD4 M105V

    PMID:28658627

    Open questions at the time
    • Stoichiometry of the receptor complex unresolved
    • No structural detail of the extracellular-loop interactions
  3. 2018 High

    Separated developmental from maintenance roles by endothelial-specific conditional deletion, showing TSPAN12 is required both for retinal vascular morphogenesis and for ongoing BRB integrity in adults.

    Evidence Cdh5-CreERT2 conditional KO with confocal imaging, RNA-seq, histopathology and electroretinogram

    PMID:30354230

    Open questions at the time
    • Molecular link between β-catenin output and barrier gene programs not defined
    • Whether maintenance defect is fully cell-autonomous unclear
  4. 2013 Medium

    Extended TSPAN12 function to cancer by showing it stabilizes the FZD4-LRP5 association to protect β-catenin from degradation and influence tumor growth and metastasis.

    Evidence siRNA/shRNA, Co-IP of FZD4-LRP5, β-catenin degradation western blots, xenograft models in MDA-MB-231 cells

    PMID:23955570

    Open questions at the time
    • Whether Norrin is the relevant ligand in this context untested
    • Single cell-line context
    • Direct vs indirect effect on FZD4-LRP5 not dissected structurally
  5. 2014 Medium

    Showed a stromal role in which fibroblast TSPAN12 transduces contact-induced β-catenin signaling to drive CXCL6 secretion and cancer cell invasion, broadening the pathway's tissue contexts.

    Evidence siRNA knockdown, co-culture invasion assays, microarray, CXCL6 measurement and xenografts in p53-depleted fibroblasts

    PMID:25512506

    Open questions at the time
    • Receptor complex composition in fibroblasts unconfirmed
    • Identity of activating signal upon cancer-cell contact unknown
  6. 2017 Medium

    Demonstrated that disrupting the TSPAN12-FZD4 interaction is therapeutically actionable, validating the interaction as the functional node in pathological retinal neovascularization.

    Evidence Phage-display anti-Tspan12 antibody, Co-IP disruption, endothelial assays, and OIR and VLDLR-KO mouse models

    PMID:28356444

    Open questions at the time
    • Precise epitope and mechanism of disruption not mapped
    • Single antibody, single lab
  7. 2021 Medium

    Identified RNF152 as an E3 ligase that ubiquitinates TSPAN12 for proteasomal degradation, defining a post-translational control point limiting TSPAN12-driven CXCL6 expression.

    Evidence Co-IP, in vivo ubiquitination assay, RNAi, proliferation/invasion assays and xenografts in HCC

    PMID:33602225

    Open questions at the time
    • Ubiquitination sites on TSPAN12 not mapped
    • Regulation of RNF152 activity unknown
    • Single lab
  8. 2021 Medium

    Linked endothelial TSPAN12 loss to increased permeability and ECM dysregulation in a non-retinal tissue and placed TSPAN12 downstream of IL-13 signaling.

    Evidence siRNA silencing, permeability assays, RNA-seq, endothelial-fibroblast co-culture and cytokine treatment

    PMID:34687736

    Open questions at the time
    • Mechanism connecting TSPAN12 to ECM genes undefined
    • Whether β-catenin mediates this effect not tested directly
  9. 2022 Medium

    Defined a non-vascular endocrine role, showing TSPAN12 negatively regulates aldosterone secretion and is induced by angiotensin II via calcium/calmodulin signaling.

    Evidence siRNA silencing, aldosterone measurement, angiotensin II stimulation with nifedipine/W-7 inhibition in HAC15 cells and pig adrenal

    PMID:36458545

    Open questions at the time
    • Molecular mechanism of aldosterone suppression unknown
    • Whether β-catenin/Norrin signaling is involved untested
  10. 2022 Medium

    Showed that disease-associated missense variants act by impairing binding-partner interactions and subcellular trafficking, connecting genotype to a defined molecular defect in the Norrin pathway.

    Evidence Co-IP variant analysis, immunofluorescence trafficking, subcellular fractionation and luciferase reporters

    PMID:36453149

    Open questions at the time
    • Trafficking defect mechanism not resolved at structural level
    • Single lab
  11. 2026 High

    Resolved the Norrin-TSPAN12 interface by cryo-EM, showing a Norrin dimer bridges two TSPAN12 large extracellular loops and that TSPAN12 binds Norrin directly without raising Norrin-FZD4 affinity, supporting a quaternary complex model.

    Evidence Cryo-EM of the Norrin-TSPAN12 LEL complex at 3.78 Å with binding-affinity measurements

    PMID:42155446

    Open questions at the time
    • Full assembly with FZD4 and LRP5/6 not captured in one structure
    • Dynamics of complex assembly in cells not addressed
  12. 2025 High

    Cryo-EM of the TSPAN12-FZD4 complex established that the two form a direct pre-ligand complex via a TSPAN12 four-helix transmembrane bundle packing against FZD4 TM2, promoting surface trafficking while leaving the Norrin-binding helices exposed.

    Evidence Cryo-EM at 3.4 Å (preprint) with cell-based signaling and surface-trafficking assays

    PMID:bio_10.1101_2025.09.25.678640

    Open questions at the time
    • Not yet peer-reviewed
    • LRP5/6 engagement geometry within the active complex not shown
  13. 2025 Medium

    Demonstrated in Tspan12 KO mice that cystoid edema arises from loss of basal Norrin/FZD4/β-catenin signaling and is fully reversed by a FZD4/LRP5 agonist antibody, positioning TSPAN12 as an amplifier upstream of a pharmacologically restorable node.

    Evidence Tspan12 KO mice (preprint), FZD4/LRP5 agonist rescue, BRB assays, ERG and Tspan12;C1qa compound mutants

    PMID:bio_10.1101_2025.07.22.666172

    Open questions at the time
    • Not yet peer-reviewed
    • Role of complement in edema only partially dissected

Open questions

Synthesis pass · forward-looking unresolved questions
  • How TSPAN12's distinct context-specific roles (retinal barrier amplification, cancer β-catenin stabilization, ECM/permeability control, and aldosterone suppression) are mechanistically unified or distinguished remains unresolved.
  • Whether non-retinal roles use the same quaternary complex is untested
  • Tissue-specific ligand/partner repertoire of TSPAN12 undefined
  • Mechanism of aldosterone regulation and ECM control not connected to Norrin signaling

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0038024 cargo receptor activity 4 GO:0060089 molecular transducer activity 2 GO:0098772 molecular function regulator activity 2
Localization
GO:0005886 plasma membrane 2
Pathway
R-HSA-162582 Signal Transduction 3 R-HSA-1643685 Disease 3 R-HSA-1266738 Developmental Biology 2
Partners
FZD4LRP5NDPRNF152
Complex memberships
Norrin-FZD4-LRP5/6-TSPAN12 receptor complex

Evidence

Reading pass · 16 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2009 TSPAN12 is expressed in the retinal vasculature and loss of Tspan12 phenocopies defects seen in Fzd4, Lrp5, and Norrin mutant mice. Overexpressed TSPAN12 associates with the Norrin-receptor complex and significantly increases Norrin/β-catenin but not Wnt/β-catenin signaling. Tspan12 siRNA abolishes transcriptional responses to Norrin but not Wnt3A in retinal endothelial cells. Signaling defects caused by Norrin or FZD4 mutations predicted to impair receptor multimerization are rescued by TSPAN12 overexpression, indicating that Norrin multimers and TSPAN12 cooperatively promote multimerization of FZD4 and associated proteins. Mouse knockout (phenocopy), genetic interaction studies, Co-IP, siRNA knockdown, reporter assays (luciferase), overexpression rescue experiments Cell High 19837033
2017 TSPAN12 is an essential component of the NDP (Norrin) receptor complex and interacts with FZD4 and NDP via its extracellular loops, acting as a co-receptor that enhances FZD4 ligand selectivity for NDP. FEVR-linked mutations in TSPAN12 prevent its incorporation into the NDP receptor complex. TSPAN12 alleviates defects of FZD4 M105V, a mutation that destabilizes the NDP/FZD4 interaction, both in vitro and in Xenopus embryos. Co-IP (interaction with FZD4 and NDP via extracellular loops), FEVR mutation analysis, in vitro signaling assays, Xenopus embryo rescue experiments Cell reports High 28658627
2018 TSPAN12 functions specifically in endothelial cells to promote vascular morphogenesis and blood-retina barrier (BRB) formation in developing mice and BRB maintenance in adult mice. Early endothelial-specific loss of TSPAN12 causes lack of intraretinal capillaries and increased VE-cadherin expression (consistent with premature vascular quiescence). Late loss of TSPAN12 strongly impairs BRB maintenance without affecting vascular morphogenesis, pericyte coverage, or perfusion. Long-term BRB defects associate with immunoglobulin extravasation, complement deposition, cystoid edema, and impaired b-wave in electroretinograms. Conditional endothelial-specific knockout (loxP/Cdh5-CreERT2), confocal microscopy, RNA-seq, histopathology, electroretinogram Arteriosclerosis, thrombosis, and vascular biology High 30354230
2013 TSPAN12 ablation from human MDA-MB-231 cells caused diminished association between FZD4 and its co-receptor LRP5, leading to substantially enhanced proteasomal degradation of β-catenin and altered expression of canonical Wnt pathway components (LRP5, Naked 1/2, DVL2, DVL3, Axin 1, GSK3β). This resulted in decreased primary tumor xenograft growth, increased tumor apoptosis, and markedly enhanced tumor-endothelial interactions and metastasis to mouse lungs. siRNA/shRNA knockdown, Co-IP (FZD4-LRP5 association), western blot (β-catenin degradation), xenograft tumor models, gene expression analysis Cellular and molecular life sciences : CMLS Medium 23955570
2014 TSPAN12 expression in p53-depleted lung fibroblasts (cancer-associated fibroblasts) is required for contact-mediated cancer cell invasion and proliferation. TSPAN12 in fibroblasts transduces β-catenin signaling upon cancer cell contact, leading to secretion of CXCL6, which promotes cancer cell invasion. TSPAN12 knockdown in p53-depleted fibroblasts inhibited CXCL6 secretion, cancer cell invasion in vitro, and tumor growth in vivo. siRNA knockdown, co-culture invasion assays, DNA chip/microarray, xenograft tumor model, CXCL6 secretion measurement Proceedings of the National Academy of Sciences of the United States of America Medium 25512506
2017 An anti-Tspan12 antibody inhibits the interaction between Tspan12 and Frizzled-4, effectively modulates β-catenin levels and target genes in vascular endothelial cells, and inhibits endothelial cell migration and tube formation. Tspan12/β-catenin signaling is activated in response to acute and chronic stress in retinal neovascular disease models (OIR and VLDLR KO mice). Intravitreal application of the anti-Tspan12 antibody showed therapeutic effects in both models. Phage display antibody generation, Co-IP (Tspan12-FZD4 interaction disruption), in vitro endothelial cell assays, in vivo OIR and VLDLR KO mouse models, western blot (β-catenin) Circulation Medium 28356444
2021 In endothelial cells, TSPAN12 gene silencing increases endothelial cell permeability and dysregulates genes associated with extracellular matrix pathways. Endothelial cell-fibroblast crosstalk upon TSPAN12 loss induces extracellular matrix changes relevant to esophageal remodeling. IL-13 reduces TSPAN12 expression in endothelial cells, whereas anti-IL-13 therapy increases TSPAN12 expression. siRNA gene silencing, permeability assays, RNA sequencing, endothelial cell-fibroblast co-culture, cytokine treatment Gastroenterology Medium 34687736
2021 The E3 ubiquitin ligase RNF152 interacts with TSPAN12 and targets it for ubiquitination and proteasomal degradation, thereby inhibiting TSPAN12-dependent CXCL6 expression and HCC progression. Co-immunoprecipitation (RNF152-TSPAN12 interaction), in vivo ubiquitination assay, RNAi knockdown, cell proliferation/invasion assays, xenograft tumor model Cancer cell international Medium 33602225
2022 Novel TSPAN12 missense variants show compromised interactions with binding partners in the Norrin/β-catenin pathway by co-immunoprecipitation, and exhibit abnormal subcellular trafficking by immunofluorescence and subcellular protein extraction. Overexpression of TSPAN12 enhanced Norrin/β-catenin signaling by strengthening the binding affinity of mutant Norrin with FZD4 or LRP5. Co-immunoprecipitation (variant interaction analysis), immunofluorescence (subcellular trafficking), subcellular protein fractionation, luciferase reporter assay, western blot Clinical genetics Medium 36453149
2022 TSPAN12 is a negative regulator of aldosterone production in adrenocortical cells. Gene silencing of TSPAN12 in human adrenocortical cells (HAC15) demonstrated its inverse effect on aldosterone secretion under basal and angiotensin II-stimulated conditions. Angiotensin II stimulation caused increased TSPAN12 expression that was ablated by nifedipine or calmodulin inhibitor W-7. siRNA gene silencing, aldosterone secretion measurement, angiotensin II stimulation, pharmacological inhibition (nifedipine, W-7), pig adrenal model Hypertension (Dallas, Tex. : 1979) Medium 36458545
2022 TSPAN12 frameshift variant c.533dupC (p.D179Rfs*6) causes degradation of the entire TSPAN12 protein, which fails to activate Norrin/β-catenin signaling, establishing that protein integrity is required for pathway activation. Immunocytochemistry, western blot, qPCR, luciferase reporter assay Molecular genetics & genomic medicine Low 35417085
2026 Cryo-EM structure of the Norrin-Tspan12 large extracellular loop (LEL) complex at 3.78 Å resolution reveals that a Norrin dimer binds two Tspan12 molecules, defining the Norrin-Tspan12 interface. Tspan12 binds directly to Norrin without enhancing the binding affinity between Norrin and FZD4, supporting a model in which Norrin, FZD4, LRP5/6, and Tspan12 form a quaternary signaling complex. Cryo-EM structure determination (3.78 Å), binding affinity measurements, structural analysis of interface Structure (London, England : 1993) High 42155446
2025 Cryo-EM structure of Tspan12 in complex with FZD4 at 3.4 Å resolution reveals that FZD4 and Tspan12 form a direct complex in the absence of Norrin. The transmembrane domain of Tspan12 forms a tightly packed four-helix bundle that interacts with TM2 of FZD4 to promote trafficking of Tspan12 to the cell surface. The C-D helices of Tspan12, which mediate Norrin binding, remain exposed while Tspan12 is in complex with FZD4, facilitating higher-affinity Norrin binding. Cell-based assays indicate Tspan12 and FZD4 remain associated after Norrin recognition, establishing Tspan12 as a core component of the active FZD4-Norrin-LRP5/6 signaling complex. Cryo-EM structure (3.4 Å), cell-based signaling assays, cell surface trafficking assays bioRxivpreprint High bio_10.1101_2025.09.25.678640
2025 Tspan12 KO mice develop cystoid edema due to BRB dysfunction mediated by loss of basal β-catenin-dependent Norrin/FZD4 signaling. Activation of β-catenin-dependent signaling by a FZD4/LRP5 agonist antibody achieves complete resolution of cystoid edema in this model, establishing that Tspan12 maintains BRB function through Norrin/FZD4/β-catenin signaling. Tspan12 KO mouse model (genetic), FZD4/LRP5 agonist antibody rescue, BRB function assays, ERG, cystoid edema quantification, compound mutant analysis (Tspan12 KO; C1qa KO) bioRxivpreprint Medium bio_10.1101_2025.07.22.666172
2012 Homozygous (biallelic) TSPAN12 mutations cause more severe FEVR/retinal dysplasia than heterozygous mutations in the same family, establishing a dose-dependent relationship between TSPAN12 function and Norrin-β-catenin pathway activity in retinal vascular development. Genetic mutation analysis (Sanger sequencing), reverse transcriptase PCR (splicing verification), phenotype-genotype correlation in family members Investigative ophthalmology & visual science Low 22427576
2019 TSPAN12 overexpression in ovarian cancer cells (OVCAR3, SKOV3) accelerated proliferation and colony formation, while knockdown in A2780 and SKOV3 cells decreased proliferation. Western blot showed that cyclins (A2, D1, E2) and CDKs (CDK2, CDK4) are regulated downstream of TSPAN12, placing TSPAN12 upstream of cell cycle control machinery. Overexpression and siRNA knockdown, proliferation and colony formation assays, western blot (cyclin and CDK expression) Molecules and cells Low 31362470

Source papers

Stage 0 corpus · 55 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2009 TSPAN12 regulates retinal vascular development by promoting Norrin- but not Wnt-induced FZD4/beta-catenin signaling. Cell 329 19837033
2010 Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. American journal of human genetics 176 20159111
2010 Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. American journal of human genetics 157 20159112
2020 miR-196b-5p-mediated downregulation of TSPAN12 and GATA6 promotes tumor progression in non-small cell lung cancer. Proceedings of the National Academy of Sciences of the United States of America 147 32041891
2017 TSPAN12 Is a Norrin Co-receptor that Amplifies Frizzled4 Ligand Selectivity and Signaling. Cell reports 79 28658627
2014 TSPAN12 is a critical factor for cancer-fibroblast cell contact-mediated cancer invasion. Proceedings of the National Academy of Sciences of the United States of America 65 25512506
2012 Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR). Investigative ophthalmology & visual science 62 22427576
2017 Mutations in LRP5,FZD4, TSPAN12, NDP, ZNF408, or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy. Investigative ophthalmology & visual science 58 28494495
2015 Molecular Characterization of FZD4, LRP5, and TSPAN12 in Familial Exudative Vitreoretinopathy. Investigative ophthalmology & visual science 49 26244290
2013 Tetraspanin TSPAN12 regulates tumor growth and metastasis and inhibits β-catenin degradation. Cellular and molecular life sciences : CMLS 49 23955570
2021 Loss of Endothelial TSPAN12 Promotes Fibrostenotic Eosinophilic Esophagitis via Endothelial Cell-Fibroblast Crosstalk. Gastroenterology 44 34687736
2018 Endothelial Cell-Specific Inactivation of TSPAN12 (Tetraspanin 12) Reveals Pathological Consequences of Barrier Defects in an Otherwise Intact Vasculature. Arteriosclerosis, thrombosis, and vascular biology 43 30354230
2017 Mutation Spectrum of the LRP5, NDP, and TSPAN12 Genes in Chinese Patients With Familial Exudative Vitreoretinopathy. Investigative ophthalmology & visual science 34 29181528
2011 Novel TSPAN12 mutations in patients with familial exudative vitreoretinopathy and their associated phenotypes. Molecular vision 34 21552475
2016 Mutation spectrum of the FZD-4, TSPAN12 AND ZNF408 genes in Indian FEVR patients. BMC ophthalmology 31 27316669
2011 Mutations in the TSPAN12 gene in Japanese patients with familial exudative vitreoretinopathy. American journal of ophthalmology 29 21334594
2017 TSPAN12 promotes chemoresistance and proliferation of SCLC under the regulation of miR-495. Biochemical and biophysical research communications 26 28302484
2017 Antibody-Mediated Inhibition of Tspan12 Ameliorates Vasoproliferative Retinopathy Through Suppression of β-Catenin Signaling. Circulation 24 28356444
2011 Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPV. American journal of medical genetics. Part A 24 21626674
2024 METTL3-mediated m6A modification of lncRNA TSPAN12 promotes metastasis of hepatocellular carcinoma through SENP1-depentent deSUMOylation of EIF3I. Oncogene 19 38374407
2014 Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra-familial phenotypic variability. American journal of medical genetics. Part A 19 25250762
2014 Novel mutations in the TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy. Molecular vision 18 25352738
2013 Familial exudative vitreoretinopathy caused by a homozygous mutation in TSPAN12 in a cystic fibrosis infant. Ophthalmic genetics 16 23834558
2017 Variable Familial Exudative Vitreoretinopathy in a family harbouring variants in both FZD4 and TSPAN12. Acta ophthalmologica 14 28211206
2016 Large Deletions of TSPAN12 Cause Familial Exudative Vitreoretinopathy (FEVR). Investigative ophthalmology & visual science 14 28002565
2017 Upregulation of TSPAN12 is associated with the colorectal cancer growth and metastasis. American journal of translational research 12 28337310
2021 Ring finger protein 152-dependent degradation of TSPAN12 suppresses hepatocellular carcinoma progression. Cancer cell international 11 33602225
2020 RNA sequencing reveals the long noncoding RNA and mRNA profiles and identifies long non-coding RNA TSPAN12 as a potential microvascular invasion-related biomarker in hepatocellular carcinoma. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie 11 32222644
2019 A start codon mutation of the TSPAN12 gene in Chinese families causes clinical heterogeneous familial exudative vitreoretinopathy. Molecular genetics & genomic medicine 10 31452356
2017 Mutation spectrum of NDP, FZD4 and TSPAN12 genes in Indian patients with retinopathy of prematurity. The British journal of ophthalmology 10 28982955
2021 Pathogenic variants and associated phenotypic spectrum of TSPAN12 based on data from a large cohort. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 9 33907885
2019 TSPAN12 Precedes Tumor Proliferation by Cell Cycle Control in Ovarian Cancer. Molecules and cells 9 31362470
2016 Simultaneous Novel Mutations of LRP5 and TSPAN12 in a Case of Familial Exudative Vitreoretinopathy. Journal of pediatric ophthalmology and strabismus 9 27007396
2018 TSPAN12 is overexpressed in NSCLC via p53 inhibition and promotes NSCLC cell growth in vitro and in vivo. OncoTargets and therapy 8 29535534
2022 RF-Net 2: fast inference of virus reassortment and hybridization networks. Bioinformatics (Oxford, England) 7 35150239
2022 Whole exome sequencing revealed 14 variants in NDP, FZD4, LRP5, and TSPAN12 genes for 20 families with familial exudative vitreoretinopathy. BMC medical genomics 6 35277167
2019 Detection of FZD4, LRP5 and TSPAN12 Genes Variants in Malay Premature Babies with Retinopathy of Prematurity. Journal of ophthalmic & vision research 6 31114654
2003 Effect of reactive cell density on net [2-14C]acetate uptake into rat brain: labeling of clusters containing GFAP+- and lectin+-immunoreactive cells. Neurochemistry international 6 12510019
2022 A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy. Clinical genetics 5 36453149
2021 Whole-Exome Sequencing Reveals Novel TSPAN12 Variants in Autosomal Dominant Familial Exudative Vitreoretinopathy. Genetic testing and molecular biomarkers 5 34077673
2024 Mutations in TSPAN12 gene causing familial exudative vitreoretinopathy. Human genomics 4 38424652
2019 Asymptomatic adults in a single family with familial exudative vitreoretinopathy and TSPAN12 variant. Ophthalmic genetics 4 31755339
2022 TSPAN12 (Tetraspanin 12) Is a Novel Negative Regulator of Aldosterone Production in Adrenal Physiology and Aldosterone-Producing Adenomas. Hypertension (Dallas, Tex. : 1979) 3 36458545
2021 A novel variant in the TSPAN12 gene-presenting as unilateral myopia, pediatric cataract, and heterochromia in a patient with familial exudative vitreoretinopathy. European journal of ophthalmology 3 34151585
2019 Genetic variants of TSPAN12 gene in patients with retinopathy of prematurity. Journal of cellular biochemistry 3 31009104
2023 Five novel dysfunctional variants in the TSPAN12 gene in familial exudative vitreoretinopathy. Experimental eye research 2 37451565
2022 A novel frameshift variant in the TSPAN12 gene causes autosomal dominant FEVR. Molecular genetics & genomic medicine 2 35417085
2023 Identification of Five Novel Variants in the TSPAN12 Gene in Chinese Families With Familial Exudative Vitreoretinopathy. Translational vision science & technology 1 37252707
2021 Novel mutation in TSPAN12 associated with familial exudative vitreoretinopathy in a Chinese pedigree. Ophthalmic genetics 1 34445920
2021 A novel stop codon mutation of TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy. Ophthalmic genetics 1 34738848
2019 Whole-Exome Sequencing Analysis Identified Novel Mutations in the TSPAN12 Gene in Chinese Families with Familial Exudative Vitreoretinopathy. Genetic testing and molecular biomarkers 1 31513438
1999 Microporous Montmorillonites Expanded with Alumina Clusters and M[(&mgr;-OH)Cu(&mgr;-OCH(2)CH(2)NEt(2))](6)(ClO(4))(3), (M = Al, Ga, and Fe), or Cr[(&mgr;-OCH(3))(&mgr;-OCH(2)CH(2)NEt(2))CuCl](3) Complexes. Inorganic chemistry 1 11670992
2026 Structural basis of the interaction between Norrin-Tspan12. Structure (London, England : 1993) 0 42155446
2025 A novel TSPAN12 mutation causing retinitis pigmentosa-like appearance of familial exudative vitreoretinopathy. Ophthalmic genetics 0 41265400
2023 De novel heterozygous copy number deletion on 7q31.31-7q31.32 involving TSPAN12 gene with familial exudative vitreoretinopathy in a Chinese family. International journal of ophthalmology 0 38111929

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