| HGNC Family | Tudor domain containing (TDRD) |
| Name | survival of motor neuron 2, centromeric |
| Description | This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. While mutations in the telomeric copy are associated with spinal muscular atrophy, mutations in this gene, the centromeric copy, do not lead to disease. This gene may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The full length protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Four transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Sep 2008] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nSMN2 is a nearly identical copy of SMN1 whose unique genetic feature—a single nucleotide difference in exon 7—profoundly alters its splicing pattern. Whereas SMN1 messenger RNAs include exon 7 in every transcript to produce full‐length, stable SMN protein, SMN2 predominantly skips this exon, yielding a truncated, less stable protein that cannot fully sustain motor neuron function. Nonetheless, the small amount of full‐length protein produced by SMN2 is critically important, as its overall levels (and the number of SMN2 copies present) correlate with the severity of spinal muscular atrophy (SMA). This intrinsic “leakiness” of SMN2 splicing, governed by its cis‐regulatory RNA elements and reflected by accurate quantitative testing, establishes SMN2 as the major disease modifier in SMA."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "7"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nA complex network of trans‐acting splicing factors determines whether SMN2 exon 7 is included or skipped. Several studies have demonstrated that proteins such as Htra2‑β1, SRp30c, and other RNA‐binding factors like TDP‑43, hnRNP Q isoforms, and Sam68 interact with specific exonic or intronic regulatory motifs within SMN2. These elements form overlapping splicing enhancer and silencer sequences that dictate the fidelity of exon recognition. In some cases, rare sequence variations—for example, the c.859G>C substitution—can enhance exon 7 inclusion, thereby boosting full‐length SMN production. Thus, the delicate interplay of positive and negative splicing regulators is central to the function of SMN2 as it determines the final level of functional SMN protein available in motor neurons."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "8", "end_ref": "16"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nGiven its central role as a source of functional SMN protein in the absence of SMN1, SMN2 has emerged as a prime therapeutic target in SMA. Innovative approaches—such as the use of tailored antisense oligonucleotides designed to recruit splicing enhancers and high‐throughput screens for small molecules that upregulate SMN2 transcription and correct its splicing—are showing encouraging results in preclinical models. By refining the alternative splicing of SMN2 to favor exon 7 inclusion, these strategies aim to restore SMN protein levels, improve motor neuron survival, and ultimately ameliorate clinical disease. This combinatorial targeting underscores SMN2’s dual function as both a biomarker of disease severity and a modifiable substrate for therapeutic intervention."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "17"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Markus Feldkötter, Verena Schwarzer, Radu Wirth, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1086/338627"}], "href": "https://doi.org/10.1086/338627"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11791208"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11791208"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Philip J Young, Christine J DiDonato, Diane Hu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2 beta 1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/11.5.577"}], "href": "https://doi.org/10.1093/hmg/11.5.577"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11875052"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11875052"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Luca Cartegni, Adrian R Krainer "}, {"type": "b", "children": [{"type": "t", "text": "Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng854"}], "href": "https://doi.org/10.1038/ng854"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11925564"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11925564"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Tsuyoshi Kashima, James L Manley "}, {"type": "b", "children": [{"type": "t", "text": "A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng1207"}], "href": "https://doi.org/10.1038/ng1207"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12833158"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12833158"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Natalia N Singh, Elliot J Androphy, Ravindra N Singh "}, {"type": "b", "children": [{"type": "t", "text": "An extended inhibitory context causes skipping of exon 7 of SMN2 in spinal muscular atrophy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2004.01.067"}], "href": "https://doi.org/10.1016/j.bbrc.2004.01.067"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14766219"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14766219"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Kathryn J Swoboda, Thomas W Prior, Charles B Scott, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Natural history of denervation in SMA: relation to age, SMN2 copy number, and function."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Neurol (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ana.20473"}], "href": "https://doi.org/10.1002/ana.20473"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15852397"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15852397"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Tsuyoshi Kashima, Nishta Rao, Charles J David, et al. "}, {"type": "b", "children": [{"type": "t", "text": "hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddm276"}], "href": "https://doi.org/10.1093/hmg/ddm276"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17884807"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17884807"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "L Brichta, Y Hofmann, E Hahnen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddg256"}], "href": "https://doi.org/10.1093/hmg/ddg256"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12915451"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12915451"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Lutfi Abu-Elheiga, Wonkeun Oh, Parichher Kordari, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Acetyl-CoA carboxylase 2 mutant mice are protected against obesity and diabetes induced by high-fat/high-carbohydrate diets."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.1733877100"}], "href": "https://doi.org/10.1073/pnas.1733877100"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12920182"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12920182"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Claudia Helmken, Yvonne Hofmann, Frank Schoenen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00439-003-1025-2"}], "href": "https://doi.org/10.1007/s00439-003-1025-2"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14520560"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14520560"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Nirmal K Singh, Natalia N Singh, Elliot J Androphy, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Biol (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1128/MCB.26.4.1333-1346.2006"}], "href": "https://doi.org/10.1128/MCB.26.4.1333-1346.2006"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16449646"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16449646"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Jayarama Krishnan Bose, I-Fan Wang, Li Hung, et al. "}, {"type": "b", "children": [{"type": "t", "text": "TDP-43 overexpression enhances exon 7 inclusion during the survival of motor neuron pre-mRNA splicing."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M805376200"}], "href": "https://doi.org/10.1074/jbc.M805376200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18703504"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18703504"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Hung-Hsi Chen, Jan-Growth Chang, Ruei-Min Lu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The RNA binding protein hnRNP Q modulates the utilization of exon 7 in the survival motor neuron 2 (SMN2) gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Biol (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1128/MCB.01332-08"}], "href": "https://doi.org/10.1128/MCB.01332-08"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18794368"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18794368"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Thomas W Prior, Adrian R Krainer, Yimin Hua, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A positive modifier of spinal muscular atrophy in the SMN2 gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2009.08.002"}], "href": "https://doi.org/10.1016/j.ajhg.2009.08.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19716110"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19716110"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Myriam Vezain, Pascale Saugier-Veber, Elisa Goina, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.21173"}], "href": "https://doi.org/10.1002/humu.21173"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19953646"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19953646"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "Simona Pedrotti, Pamela Bielli, Maria Paola Paronetto, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO J (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/emboj.2010.19"}], "href": "https://doi.org/10.1038/emboj.2010.19"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20186123"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20186123"}]}, {"type": "r", "ref": 17, "children": [{"type": "t", "text": "Leigh A Skordis, Matthew G Dunckley, Baigong Yue, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.0633863100"}], "href": "https://doi.org/10.1073/pnas.0633863100"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12642665"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12642665"}]}, {"type": "r", "ref": 18, "children": [{"type": "t", "text": "Gyu-Hwan Park, Yuka Maeno-Hikichi, Tomoyuki Awano, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurosci (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1523/JNEUROSCI.2208-10.2010"}], "href": "https://doi.org/10.1523/JNEUROSCI.2208-10.2010"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20826664"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20826664"}]}]}]}
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| Synonyms | TDRD16B, C-BCD541, SMNC |
| NCBI Gene ID | 6607 |
| API | |
| Download Associations | |
| Predicted Functions |
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| Co-expressed Genes |
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| Expression in Tissues and Cell Lines |
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SMN2 has 5,511 functional associations with biological entities spanning 7 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, cell line, cell type or tissue, gene, protein or microRNA) extracted from 70 datasets.
Click the + buttons to view associations for SMN2 from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of SMN2 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset. | |
| Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of SMN2 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of SMN2 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. | |
| Carcinogenome Chemical Perturbation Carcinogenicity Signatures | small molecule perturbations changing expression of SMN2 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset. | |
| CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of SMN2 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset. | |
| ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of SMN2 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
| ChEA Transcription Factor Targets | transcription factors binding the promoter of SMN2 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
| ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of SMN2 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
| ClinVar Gene-Phenotype Associations 2025 | phenotypes associated with SMN2 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing SMN2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing SMN2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 | cellular components containing SMN2 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores | cellular components co-occuring with SMN2 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with SMN2 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| COSMIC Cell Line Gene CNV Profiles | cell lines with high or low copy number of SMN2 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset. | |
| CTD Gene-Chemical Interactions | chemicals interacting with SMN2 gene/protein from the curated CTD Gene-Chemical Interactions dataset. | |
| CTD Gene-Disease Associations | diseases associated with SMN2 gene/protein from the curated CTD Gene-Disease Associations dataset. | |
| DISEASES Curated Gene-Disease Association Evidence Scores | diseases involving SMN2 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. | |
| DISEASES Curated Gene-Disease Association Evidence Scores 2025 | diseases involving SMN2 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores | diseases co-occuring with SMN2 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with SMN2 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DisGeNET Gene-Disease Associations | diseases associated with SMN2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
| DisGeNET Gene-Phenotype Associations | phenotypes associated with SMN2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset. | |
| ENCODE Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at SMN2 gene from the ENCODE Histone Modification Site Profiles dataset. | |
| ENCODE Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of SMN2 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of SMN2 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
| GAD Gene-Disease Associations | diseases associated with SMN2 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. | |
| GAD High Level Gene-Disease Associations | diseases associated with SMN2 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset. | |
| GeneRIF Biological Term Annotations | biological terms co-occuring with SMN2 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of SMN2 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
| GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations | transcription factor perturbations changing expression of SMN2 gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Viral Infections | virus perturbations changing expression of SMN2 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
| GTEx Tissue Gene Expression Profiles | tissues with high or low expression of SMN2 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of SMN2 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| GTEx Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of SMN2 gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset. | |
| GTEx Tissue-Specific Aging Signatures | tissue samples with high or low expression of SMN2 gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset. | |
| HPA Cell Line Gene Expression Profiles | cell lines with high or low expression of SMN2 gene relative to other cell lines from the HPA Cell Line Gene Expression Profiles dataset. | |
| HPA Tissue Gene Expression Profiles | tissues with high or low expression of SMN2 gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset. | |
| HPA Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of SMN2 gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset. | |
| Hub Proteins Protein-Protein Interactions | interacting hub proteins for SMN2 from the curated Hub Proteins Protein-Protein Interactions dataset. | |
| HuGE Navigator Gene-Phenotype Associations | phenotypes associated with SMN2 gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of SMN2 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset. | |
| JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of SMN2 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset. | |
| Kinase Library Serine Threonine Kinome Atlas | kinases that phosphorylate SMN2 protein from the Kinase Library Serine Threonine Atlas dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles | cell lines with high or low copy number of SMN2 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
| LOCATE Curated Protein Localization Annotations | cellular components containing SMN2 protein in low- or high-throughput protein localization assays from the LOCATE Curated Protein Localization Annotations dataset. | |
| LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain SMN2 protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
| MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by SMN2 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
| MiRTarBase microRNA Targets | microRNAs targeting SMN2 gene in low- or high-throughput microRNA targeting studies from the MiRTarBase microRNA Targets dataset. | |
| MotifMap Predicted Transcription Factor Targets | transcription factors regulating expression of SMN2 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset. | |
| NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles | drug perturbations changing expression of SMN2 gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
| NURSA Protein Complexes | protein complexs containing SMN2 protein recovered by IP-MS from the NURSA Protein Complexes dataset. | |
| OMIM Gene-Disease Associations | phenotypes associated with SMN2 gene from the curated OMIM Gene-Disease Associations dataset. | |
| Pathway Commons Protein-Protein Interactions | interacting proteins for SMN2 from the Pathway Commons Protein-Protein Interactions dataset. | |
| PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of SMN2 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| PFOCR Pathway Figure Associations 2023 | pathways involving SMN2 protein from the PFOCR Pathway Figure Associations 2023 dataset. | |
| PFOCR Pathway Figure Associations 2024 | pathways involving SMN2 protein from the Wikipathways PFOCR 2024 dataset. | |
| Roadmap Epigenomics Cell and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of SMN2 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue Gene Expression Profiles dataset. | |
| Roadmap Epigenomics Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at SMN2 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of SMN2 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of SMN2 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| SILAC Phosphoproteomics Signatures of Differentially Phosphorylated Proteins for Protein Ligands | ligand (protein) perturbations changing phosphorylation of SMN2 protein from the SILAC Phosphoproteomics Signatures of Differentially Phosphorylated Proteins for Protein Ligands dataset. | |
| TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of SMN2 gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset. | |
| TCGA Signatures of Differentially Expressed Genes for Tumors | tissue samples with high or low expression of SMN2 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores | tissues with high expression of SMN2 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of SMN2 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores | tissues with high expression of SMN2 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of SMN2 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores | tissues co-occuring with SMN2 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with SMN2 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
