Gene
SMN2
survival of motor neuron 2, centromeric
- HGNC 11118↗(opens in a new tab)
- Ensembl gene ENSG00000205571↗(opens in a new tab)
- NCBI Gene 6607↗(opens in a new tab)
Summary
- Cytogenetic location
- 5q13.2
- Coordinates
- Chromosome 5: 70,049,669–70,077,595 (GRCh38)
- Exons
- 9 exons across 27.9 kb
- Protein
- 294 amino acids
- Also known as
- BCD541, SMNC, GEMIN1, TDRD16B
- MANE Select transcript
- ENST00000380743.9NM_017411.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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How SMN2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 1.5 kb of the gene's 27.9 kb; 885 of those bases code for the protein.
Traits linked to SMN2
The Human Phenotype Ontology lists these as features of the rare conditions SMN2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of limbs
- Absent ankle reflexes
- Absent knee jerk reflex
- Lower limb muscle weakness
- Pelvic girdle amyotrophy
- Pelvic girdle muscle weakness
- Wasting of thigh muscle
- Weak shoulder muscles
- Shoulder girdle muscle wasting
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
Cite this page
Dante Labs. (n.d.). SMN2 gene: survival of motor neuron 2, centromeric. Retrieved 17 October 2026, from https://dantelabs.com/genes/smn2
Dante Labs. SMN2 gene: survival of motor neuron 2, centromeric [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/smn2
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