SMN2
E135135
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.
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 gene ⓘ
linked to:
SMN2
SMNc ⓘ
linked to:
SMN complex
|
| 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 |
survival of motor neuron 2, centromeric
ⓘ
linked to:
SMN2
|
| 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
ⓘ
linked to:
SMN1 gene
|
| primaryTranscript |
SMN2 pre-mRNA
ⓘ
linked to:
SMN2
|
| produces |
SMN protein
ⓘ
linked to:
survival motor neuron 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 ⓘ nusinersen ⓘ
linked to:
Spinraza
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
The pipeline generated the facts above by prompting gpt-5.1 with this entity's name + description and the instruction below.
Instruction
You are a knowledge base construction expert. Given a subject entity and a description of it, return factual statements that you know for the subject as a JSON list of dictionaries(triples), where keys must be "subject", "predicate" and "object". The number of facts may be very high, between 25 to 50 or more, for very popular subjects. For less popular subjects, the number of facts can be very low, like 5 or 10. # Requirements - If you don't know the subject at all, return an empty list. - If the subject is not a named entity, return an empty list. - Include at least one triple where predicate is "instanceOf". - Do not get too wordy. - Separate several objects into multiple triples with one object.
Input
Subject: SMN2 Description of subject: 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.
Referenced by (7)
Full triples — surface form annotated when it differs from this entity's canonical label.
subject linked to:
survival motor neuron protein
linked to: SMN2
linked to: SMN2
linked to: SMN2
linked to: SMN2