SMN2

Gene

survival of motor neuron 2, centromeric

HGNCHGNC:11118 EnsemblENSG00000205571 NCBI Gene6607

Locus: gene with protein productLocation: 5q13.2

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asBCD541 · SMNC · GEMIN1 · TDRD16B

View full nomenclature history (5)

Alias symbolsBCD541, SMNC, GEMIN1, TDRD16B

Alias namestudor domain containing 16B

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Spinal Muscular Atrophies of Childhood

Spinal muscular atrophy, type 1

Proximal spinal muscular atrophy type 2

Muscular Atrophy, Spinal

Neurodegenerative Diseases

Proximal spinal muscular atrophy type 4

Proximal spinal muscular atrophy

spinal muscular atrophy, type IV

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

Tudor domain containingSMN complexProteins encoded by multiple genes

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.

Open TargetsGene–disease associations from the Open Targets Platform.