ConductScience.org, home

Gene · 6607

SMN2: survival of motor neuron 2, centromeric

12 sourcesgene-search-2026-11-11-0.2.0

Download JSON
Cite this record

ConductScience Library. SMN2: survival of motor neuron 2, centromeric. Genes, record 6607. Release gene-search-2026-11-11-0.2.0, 11 Nov 2026. https://conductscience.org/library/genes/6607

On this page

Gene

Symbol
SMN2
HGNC
Name
survival of motor neuron 2, centromeric
HGNC
NCBI Gene ID
6607
NCBI Gene
HGNC ID
HGNC:11118
HGNC
Ensembl
ENSG00000205571
NCBI Gene
Aliases
BCD541, C-BCD541, GEMIN1, SMNC, TDRD16B
NCBI Gene
Type
protein-coding
NCBI Gene

Proteins1

Reviewed human proteins whose Swiss-Prot entry states the gene.

UniProt entryProteinLengthStructuresGene stated in
Q16637Survival motor neuron protein29415Ensembl, GeneID, HGNC

Source UniProt

Patents140

Patents whose sequence listing contains this protein's exact sequence. A patent can list a sequence without claiming it.

PublicationPublishedSEQ ID NOProteinSource
JP 2026086420 A2026-05-2633Q16637Espacenet
EP 4704920 A12026-03-11137Q16637Espacenet
JP 2026004568 A2026-01-1465920Q16637Espacenet
JP 2026004568 A2026-01-1465927Q16637Espacenet
US 12478692 B22025-11-253Q16637Espacenet
EP 4650780 A22025-11-1910364Q16637Espacenet
EP 4650780 A22025-11-194377Q16637Espacenet
EP 4585229 A22025-07-162Q16637Espacenet
EP 4585263 A22025-07-162Q16637Espacenet
US 12350311 B22025-07-082Q16637Espacenet

1 to 10 of 140

See all 140 patents

Drugs4

Drugs a ChEMBL mechanism record says act on the gene's protein, through Open Targets.

DrugChEMBL IDMechanismActionSource
NUSINERSENCHEMBL3301572SMN2 pre-mRNA positive modulatorPOSITIVE MODULATORChEMBL
NUSINERSEN SODIUMCHEMBL3833342SMN2 pre-mRNA positive modulatorPOSITIVE MODULATORChEMBL
ONASEMNOGENE ABEPARVOVECCHEMBL4297240Survival motor neuron protein exogenous geneEXOGENOUS GENEChEMBL
RISDIPLAMCHEMBL4297528SMN2 pre-mRNA positive modulatorPOSITIVE MODULATORChEMBL

Trials54

Trials of those drugs. A trial joins the gene only through a drug that acts on it.

TrialDrugPhaseResults first postedSource
NCT07444450ONASEMNOGENE ABEPARVOVECPHASE3ClinicalTrials.gov
NCT07070999RISDIPLAMPHASE1/PHASE2ClinicalTrials.gov
NCT07047144NUSINERSENPHASE2ClinicalTrials.gov
NCT07047144RISDIPLAMPHASE2ClinicalTrials.gov
NCT06555419NUSINERSENPHASE1ClinicalTrials.gov
NCT05861999RISDIPLAMPHASE4ClinicalTrials.gov
NCT05861986RISDIPLAMPHASE4ClinicalTrials.gov
NCT05808764RISDIPLAMPHASE2ClinicalTrials.gov
NCT05769465NUSINERSENClinicalTrials.gov
NCT05769465ONASEMNOGENE ABEPARVOVECClinicalTrials.gov

1 to 10 of 54

See all 54 trials

NIH grants1,484

NIH grants whose papers are about the gene, through NIH's grant-paper links.

GrantTitleSMN2 papersNewest fiscal year
P30CA045508CSHL Cancer Center Support Grant162025
R01GM042699Biochemistry of Pre-mRNA Splicing162025
P01CA013106Targeting Transcription and Splicing in Cancer102025
P20GM103446Delaware INBRE92025
R01NS102451RNA-Mediated Mechanisms of Motor System Dysfunction in Spinal Muscular Atrophy92025
R01NS078375Mechanisms of Central Synaptic Dysfunction in SMA82025
R35GM118103Recognition of Cellular Targets by single and double-stranded nucleic acids72025
P30CA034196Cancer Center Support (CORE) Grant62025
R35NS122306Translating Pathomechanisms into Treatment for Spinal Muscular Atrophies62025
R01CA249180Targeted degradation of RNAs by using small molecules52025

1 to 10 of 1,484Source NIH's project files

See all 1,484 nih grants

Papers3,510

Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.

TitleJournalYearPMIDFound bySource
The utilization of multiplex PCR with fragment analysis for carrier screening of spinal muscular atrophy.Clin Chim Acta202742551705PubTator, text miningPubMed
Clinical Practice of Single-Molecule Real-Time Sequencing in the Diagnosis of Spinal Muscular Atrophy.Mol Genet Genomic Med202642827317PubTator, text miningPubMed
Muscle biopsy to end a diagnostic odyssey in a genetically complex case of spinal muscular atrophy type 3: the importance of "old school" in the next-generation sequencing era.Eur J Paediatr Neurol202642826493PubTator, text miningPubMed
Spinal Muscular Atrophy.Continuum (Minneap Minn)202642825550PubTator, text miningPubMed
Unbiased bioinformatic and clinical analysis identifies glial fibrillary acidic protein as a potential biomarker in spinal muscular atrophy.Brain Commun202642798874PubTator, text miningPubMed
Intensive Family-Centered Rehabilitation and Motor Outcomes in a Child with Global Developmental Delay: A Case Report.Children (Basel)202642794238PubTator, text miningPubMed
Comparative Analysis of SMN2 Splicing Activity and Protein Production Following In Vitro Treatment with the Generic Risdiplam Drug Vapromin® and the Reference Drug Evrysdi®.Biomedicines202642792736PubTator, text miningPubMed
Pharmacovigilance and network toxicology analysis of risdiplam-associated adverse events in pediatric patients with spinal muscular atrophy.Naunyn Schmiedebergs Arch Pharmacol202642789045PubTator, text miningPubMed
Spinal muscular atrophy as a blueprint for precision therapy in neuromuscular disease.Expert Rev Mol Med202642776081PubTator, text miningPubMed
Case Report: Presymptomatic risdiplam in preterm monozygotic twins with co-occurring spinal muscular atrophy and tuberous sclerosis complex.Front Genet202642764968PubTator, text miningPubMed

1 to 10 of 3,510

See all 3,510 papers

Sources 12

  • ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
  • ChEMBL, through Open TargetsCC BY-SA 3.0
  • ClinicalTrials.govNo license stated
  • EMBL-EBI's patent proteinsNo added restrictions. Attribution expected
  • GenBank's patent filesNo restrictions from NCBI. Submitters may hold rights
  • HGNCCC0
  • NCBI GenePublic domain (US government)
  • NIH's project files and grant-paper linksPublic domain
  • Open TargetsCC0 1.0
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0
Each source's terms
  • ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
  • ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • ClinicalTrials.govnone stated
  • EMBL-EBI's patent proteinsEMBL-EBI's patent protein files from the EPO, JPO, KIPO and USPTO. EMBL-EBI: "EMBL-EBI itself places no additional restrictions on the use or redistribution of the data available via its Data Resources and Tools other than those provided by the original data owners" and "EMBL-EBI expects attribution (e.g. in publications, services or products) for the use of any of its Data Resources and Tools." Read on 11 Nov 2026 at https://www.ebi.ac.uk/about/terms-of-use
  • GenBank's patent filesGenBank's patent files. NCBI: "NCBI places no restrictions on the use or distribution of the GenBank data. However, some submitters may claim patent, copyright, or other intellectual property rights in all or a portion of the data they have submitted." Read on 11 Nov 2026 at https://www.ncbi.nlm.nih.gov/genbank/about/
  • HGNCCC0: https://www.genenames.org/about/license/
  • NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
  • NIH's project files and grant-paper linksPublic domain (NIH RePORTER)
  • Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

For software

Read this gene from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/genes/v1/6607

GET https://conductscience.org/api/genes/v1/6607/patents?page=2