SMN2

E135135

human gene protein-coding gene

SMN2 is a human gene that produces a backup form of survival motor neuron protein and is a key therapeutic target in spinal muscular atrophy.

Try in SPARQL Jump to: Surface forms Disambiguation Statements Elicitation Referenced by

All labels observed (4)

Label	Occurrences
SMN2 canonical	2
SMN2 gene	2
SMN2 pre-mRNA	2
survival of motor neuron 2, centromeric	1

How this entity was disambiguated

This entity first appeared as the object of triple T1169412 — resolving that mention is where its identity was fixed. The disambiguator weighed these candidate entities and picked the highlighted one (or “None”, minting a new entity). This is how homonymy is resolved: the same surface form can point to different entities.

NED1 Entity disambiguation (via context triple) gpt-5-mini-2025-08-07

Target entity: SMN2
Context triple: [Spinraza, modifiesGeneExpression, SMN2]

A. SOD1
SOD1 is a gene encoding the antioxidant enzyme superoxide dismutase 1, whose mutations are a major known cause of familial amyotrophic lateral sclerosis (ALS).
B. C9orf72
C9orf72 is a human gene whose hexanucleotide repeat expansions are the most common known genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
C. survival motor neuron protein
Survival motor neuron protein is an essential cellular protein required for the maintenance and function of motor neurons, whose deficiency leads to spinal muscular atrophy.
D. spinal muscular atrophy
Spinal muscular atrophy is a genetic neuromuscular disorder characterized by progressive muscle weakness and atrophy due to degeneration of motor neurons in the spinal cord.
E. Spinraza
Spinraza is a prescription medication used to treat spinal muscular atrophy (SMA) by modifying SMN2 gene expression to increase production of survival motor neuron (SMN) protein.
F. None of above. chosen
G. Unsure - the case is ambiguous/there is not enough information to decide.

NED2 Entity disambiguation (via description) gpt-5-mini-2025-08-07

Target entity: SMN2
Target entity description: SMN2 is a human gene that produces a backup form of survival motor neuron protein and is a key therapeutic target in spinal muscular atrophy.

A. SOD1
SOD1 is a gene encoding the antioxidant enzyme superoxide dismutase 1, whose mutations are a major known cause of familial amyotrophic lateral sclerosis (ALS).
B. C9orf72
C9orf72 is a human gene whose hexanucleotide repeat expansions are the most common known genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
C. survival motor neuron protein
Survival motor neuron protein is an essential cellular protein required for the maintenance and function of motor neurons, whose deficiency leads to spinal muscular atrophy.
D. spinal muscular atrophy
Spinal muscular atrophy is a genetic neuromuscular disorder characterized by progressive muscle weakness and atrophy due to degeneration of motor neurons in the spinal cord.
E. Spinraza
Spinraza is a prescription medication used to treat spinal muscular atrophy (SMA) by modifying SMN2 gene expression to increase production of survival motor neuron (SMN) protein.
F. None of above. chosen

Statements (49)

Predicate	Object
instanceOf	human gene ⓘ protein-coding gene ⓘ
alsoKnownAs	GTF2H5L ⓘ SMN2 ⓘ surface form: SMN2 gene SMN complex ⓘ surface form: SMNc
alternativeSplicingFeature	frequent skipping of exon 7 ⓘ
associatedWithDisease	spinal muscular atrophy ⓘ
biologicalRole	backup source of SMN protein when SMN1 is nonfunctional ⓘ
chromosomalBand	5q13 ⓘ
clinicalUse	biomarker for SMA prognosis ⓘ biomarker for SMA treatment stratification ⓘ
copyNumberEffect	higher copy number correlates with milder SMA phenotype ⓘ lower copy number correlates with more severe SMA phenotype ⓘ
databaseCrossReference	Ensembl:ENSG00000205571 ⓘ Entrez Gene:6607 ⓘ HGNC:11103 ⓘ
diseaseRole	modifier of spinal muscular atrophy severity ⓘ
encodes	survival motor neuron protein ⓘ
expressedIn	central nervous system ⓘ motor neurons ⓘ multiple human tissues ⓘ
fullName	SMN2 self-linksurface differs ⓘ surface form: survival of motor neuron 2, centromeric
geneType	paralog of SMN1 at 5q13 duplication region ⓘ
genomicContext	SMN locus at 5q13 with SMN1 and SMN2 in tandem repeat region ⓘ
inheritanceFeature	copy number variation among individuals ⓘ
involvedIn	pre-mRNA splicing via SMN protein ⓘ small nuclear ribonucleoprotein (snRNP) assembly via SMN protein ⓘ
locatedOnChromosome	chromosome 5 ⓘ
majorIsoform	SMNΔ7 ⓘ
mechanismOfTherapeuticModulation	increase of full-length SMN protein production ⓘ promotion of exon 7 inclusion ⓘ
minorIsoform	full-length SMN protein ⓘ
orthologousTo	mouse Smn gene (functional ortholog, not direct paralog) ⓘ
paralogOf	SMN1 gene ⓘ surface form: SMN1
primaryTranscript	SMN2 self-linksurface differs ⓘ surface form: SMN2 pre-mRNA
produces	survival motor neuron protein ⓘ surface form: SMN protein truncated SMN protein isoforms ⓘ
sequenceDifferenceConsequence	disrupted exonic splicing enhancer ⓘ increased exon 7 skipping ⓘ
sequenceDifferenceFrom	SMN1 ⓘ
sequenceDifferenceType	C>T transition in exon 7 ⓘ
targetOfDrug	SMN2-directed antisense oligonucleotides ⓘ branaplam ⓘ Spinraza ⓘ surface form: nusinersen risdiplam ⓘ
therapeuticTargetIn	spinal muscular atrophy type 1 ⓘ spinal muscular atrophy type 2 ⓘ spinal muscular atrophy type 3 ⓘ
undergoes	alternative splicing ⓘ

How these facts were elicited

Referenced by (7)

Full triples — surface form annotated when it differs from this entity's canonical label.

Spinraza → modifiesGeneExpression → SMN2 ⓘ

survival motor neuron protein → encodedBy → SMN2 ⓘ

subject surface form: Survival motor neuron protein

this entity surface form: SMN2 gene

risdiplam → actsOnGene → SMN2 ⓘ

risdiplam → hasMolecularTarget → SMN2 ⓘ

this entity surface form: SMN2 pre-mRNA

SMN2 → fullName → SMN2 self-linksurface differs ⓘ

this entity surface form: survival of motor neuron 2, centromeric

SMN2 → alsoKnownAs → SMN2 ⓘ