SMN2

GENE INFORMATION

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Gene name

SMN2 (HGNC Symbol)

Synonyms

BCD541, GEMIN1, SMNC, TDRD16B

Description

Survival of motor neuron 2, centromeric (HGNC Symbol)

Entrez gene summary

This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. While mutations in the telomeric copy are associated with spinal muscular atrophy, mutations in this gene, the centromeric copy, do not lead to disease. This gene may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The full length protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Four transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Sep 2008]

Chromosome

5

Cytoband

q13.2

Chromosome location (bp)

70049612 - 70078522

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000205571 (version 78.38)

Entrez gene

6607

UniProt

Q16637 (UniProt - Evidence at protein level)

neXtProt

NX_Q16637

Antibodypedia

SMN2 antibodies
 

PROTEIN VIEW

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SMN2-001
 
SMN2-002
 
SMN2-004
 
SMN2-201
 
SMN2-202
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SMN2-001 ENSP00000370119
ENST00000380743
Q16637
Show all »
Show » Show » 294 31.8 No 0
SMN2-002 ENSP00000370118
ENST00000380742
Q16637
Show all »
Show » Show » 262 28.5 No 0
SMN2-004 ENSP00000424282
ENST00000511812
B4DP61
Show all »
Show » Show » 227 24.4 No 0
SMN2-201 ENSP00000370117
ENST00000380741
Q16637
Show all »
Show » Show » 294 31.8 No 0
SMN2-202 ENSP00000479279
ENST00000614240
Q16637
Show all »
Show » Show » 262 28.5 No 0