• Gene id: 6607

Gene Summary

• Gene Symbol: SMN2   Gene   UCSC   Ensembl
• Aliases: BCD541, C-BCD541, GEMIN1, SMNC, TDRD16B
• Gene name: survival of motor neuron 2, centromeric
• Alternate names: survival motor neuron protein, component of gems 1, gemin-1, survival of motor neuron 2 isoform D2A2B345, survival of motor neuron 2 isoform D2A2B3457, survival of motor neuron 2 isoform D2A3457, survival of motor neuron 2 isoform D2B3457, survival of motor neur,
• Gene location: 5q13.2 (70049522: 70077594)     Exons: 10     NC_000005.10
• Gene summary(Entrez): 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
• OMIM: 601627

SNPs

rs148454792

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.30233737C>A
NC_000011.9   g.30255284C>A
NG_008144.1   g.7722C>A
NM_000510.3   c.327C>A
NM_000510.2   c.327C>A
NM_001018080.2   c.327C>A
NM_001018080.1   c.327C>A
NP_000501.1   p.Ser109Arg
NP_001018090.1   p.Ser109Arg|SEQ=[C/A]|GENE=FSHB
LOC105376  

rs6170

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.30231961G>T
NC_000011.9   g.30253508G>T
NG_008144.1   g.5946G>T
NM_000510.3   c.59G>T
NM_000510.2   c.59G>T
NM_001018080.2   c.59G>T
NM_001018080.1   c.59G>T
NP_000501.1   p.Ser20Ile
NP_001018090.1   p.Ser20Ile|SEQ=[G/T]|GENE=FSHB
LOC105376607   10

Protein Summary

Gene ontology

GO accession	Term name	Evidence code	Go category

KEGG pathways

Pathway id	Pathway name
hsa03013	RNA transport

Diseases

Associated diseases	References
Spinal muscular atrophy	KEGG:H00455
Spinal muscular atrophy	KEGG:H00455
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)