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Aliases for SMN2 Gene

Aliases for SMN2 Gene

  • Survival Of Motor Neuron 2, Centromeric 2 3
  • Tudor Domain Containing 16B 2 3
  • Component Of Gems 1 3 4
  • Gemin-1 3 4
  • SMNC 3 4
  • Survival Motor Neuron Protein 3
  • SMN1 SMN2 4
  • C-BCD541 3
  • TDRD16B 3
  • BCD541 3
  • GEMIN1 3
  • SMNT 4
  • SMN 4

External Ids for SMN2 Gene

Previous GeneCards Identifiers for SMN2 Gene

  • GC05U990054
  • GC05M034821
  • GC05P069880
  • GC05P069382
  • GC05P069345

Summaries for SMN2 Gene

Entrez Gene Summary for SMN2 Gene

  • 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]

GeneCards Summary for SMN2 Gene

SMN2 (Survival Of Motor Neuron 2, Centromeric) is a Protein Coding gene. Diseases associated with SMN2 include spinal muscular atrophy and spinal muscular atrophy-3. Among its related pathways are Gene Expression and RNA transport. GO annotations related to this gene include RNA binding and identical protein binding. An important paralog of this gene is SMN1.

UniProtKB/Swiss-Prot for SMN2 Gene

  • The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus. Ensures the correct splicing of U12 intron-containing genes that may be important for normal motor and proprioceptive neurons development. May also play a role in the metabolism of small nucleolar ribonucleoprotein (snoRNPs).

Gene Wiki entry for SMN2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMN2 Gene

Genomics for SMN2 Gene

Regulatory Elements for SMN2 Gene

Genomic Location for SMN2 Gene

Start:
70,049,523 bp from pter
End:
70,078,522 bp from pter
Size:
29,000 bases
Orientation:
Plus strand

Genomic View for SMN2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SMN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMN2 Gene

Proteins for SMN2 Gene

  • Protein details for SMN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16637-SMN_HUMAN
    Recommended name:
    Survival motor neuron protein
    Protein Accession:
    Q16637
    Secondary Accessions:
    • A8K0V4
    • Q13119
    • Q549U5
    • Q96J51

    Protein attributes for SMN2 Gene

    Size:
    294 amino acids
    Molecular mass:
    31849 Da
    Quaternary structure:
    • Homodimer. Part of the core SMN complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP. Part of the SMN-Sm complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8, STRAP/UNRIP and the Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG. Component of an import snRNP complex composed of KPNB1, RNUT1, SMN1 and ZNF259. Interacts with DDX20, FBL, NOLA1, RNUT1, SYNCRIP and with several spliceosomal snRNP core Sm proteins, including SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE and ILF3. Interacts with OSTF1, LSM10, LSM11 and RPP20/POP7. Interacts (via C-terminal region) with ZPR1 (via C-terminal region). Interacts (via Tudor domain) with COIL. May interact with SETX (PubMed:21700224).
    Miscellaneous:
    • The SMN gene is present in two highly homologous and functional copies (TelSMN/SMN1 and CenSMN/SMN2). The telomeric copy of SMN gene (TelSMN/SMN1) seems to be the SMA-determining gene while the centromeric copy seems unaffected

    Three dimensional structures from OCA and Proteopedia for SMN2 Gene

    Alternative splice isoforms for SMN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMN2 Gene

Proteomics data for SMN2 Gene at MOPED

Post-translational modifications for SMN2 Gene

  • Ubiquitination at Lys41, Lys51, and Lys186
  • Modification sites at PhosphoSitePlus

Other Protein References for SMN2 Gene

No data available for DME Specific Peptides for SMN2 Gene

Domains for SMN2 Gene

Gene Families for SMN2 Gene

HGNC:
  • TDRD :Tudor domain containing

Protein Domains for SMN2 Gene

Suggested Antigen Peptide Sequences for SMN2 Gene

Graphical View of Domain Structure for InterPro Entry

Q16637

UniProtKB/Swiss-Prot:

SMN_HUMAN :
  • Q16637
Domain:
  • The Tudor domain mediates association with dimethylarginines, which are common in snRNP proteins
  • Contains 1 Tudor domain.
Family:
  • Belongs to the SMN family.
genes like me logo Genes that share domains with SMN2: view

Function for SMN2 Gene

Molecular function for SMN2 Gene

GENATLAS Biochemistry: survival motor neuron,centromeric copy,highly homologous to SMNT,involved in the expression of SMA with a single nucleotide change in exon 7 resulting in the splicing out of this exon from most of the transcripts from SMN2
UniProtKB/Swiss-Prot Function: The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus. Ensures the correct splicing of U12 intron-containing genes that may be important for normal motor and proprioceptive neurons development. May also play a role in the metabolism of small nucleolar ribonucleoprotein (snoRNPs).

Gene Ontology (GO) - Molecular Function for SMN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0005515 protein binding IPI 11283611
GO:0042802 identical protein binding IPI 16189514
genes like me logo Genes that share ontologies with SMN2: view

Phenotypes for SMN2 Gene

genes like me logo Genes that share phenotypes with SMN2: view

miRNA for SMN2 Gene

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for SMN2 Gene

Localization for SMN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMN2 Gene

Cytoplasm. Nucleus, gem. Nucleus, Cajal body. Cytoplasmic granule. Cytoplasm, myofibril, sarcomere, Z line. Note=Colocalizes with Actn at the Z-line of skeletal muscle (By similarity). Under stress conditions colocalizes with RPP20/POP7 in punctuated cytoplasmic granules. Colocalized and redistributed with ZPR1 from the cytoplasm to nuclear gems (Gemini of coiled bodies) and Cajal bodies. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SMN2 Gene COMPARTMENTS Subcellular localization image for SMN2 gene
Compartment Confidence
nucleus 5
cytosol 4
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for SMN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 11283611
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IBA --
GO:0005737 cytoplasm IDA 11283611
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with SMN2: view

Pathways for SMN2 Gene

genes like me logo Genes that share pathways with SMN2: view

Pathways by source for SMN2 Gene

3 Reactome pathways for SMN2 Gene
1 KEGG pathway for SMN2 Gene

Gene Ontology (GO) - Biological Process for SMN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000245 spliceosomal complex assembly NAS 9323129
GO:0000387 spliceosomal snRNP assembly TAS --
GO:0006397 mRNA processing --
GO:0007399 nervous system development IEA --
GO:0008219 cell death --
genes like me logo Genes that share ontologies with SMN2: view

Compounds for SMN2 Gene

(8) Novoseek inferred chemical compound relationships for SMN2 Gene

Compound -log(P) Hits PubMed IDs
phenylbutyrate 76.2 8
nsc34 69.6 2
valproic acid 51.5 6
aclarubicin 45.3 3
sodium orthovanadate 32.3 3
genes like me logo Genes that share compounds with SMN2: view

Transcripts for SMN2 Gene

Unigene Clusters for SMN2 Gene

Survival of motor neuron 2, centromeric:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SMN2 Gene

No ASD Table

Relevant External Links for SMN2 Gene

GeneLoc Exon Structure for
SMN2
ECgene alternative splicing isoforms for
SMN2

Expression for SMN2 Gene

mRNA expression in normal human tissues for SMN2 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SMN2 Gene

SOURCE GeneReport for Unigene cluster for SMN2 Gene Hs.202179

mRNA Expression by UniProt/SwissProt for SMN2 Gene

Q16637-SMN_HUMAN
Tissue specificity: Expressed in a wide variety of tissues. Expressed at high levels in brain, kidney and liver, moderate levels in skeletal and cardiac muscle, and low levels in fibroblasts and lymphocytes. Also seen at high levels in spinal cord. Present in osteoclasts and mononuclear cells (at protein level).
genes like me logo Genes that share expressions with SMN2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SMN2 Gene

Orthologs for SMN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SMN2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SMN1 35
  • 99.36 (n)
  • 100 (a)
SMN1 36
  • 99 (a)
OneToMany
cow
(Bos Taurus)
Mammalia SMN1 35
  • 88.08 (n)
  • 85.37 (a)
SMN1 36
  • 84 (a)
OneToMany
dog
(Canis familiaris)
Mammalia SMN 35
  • 90.86 (n)
  • 89.52 (a)
SMN1 36
  • 88 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Smn1 35
  • 83.67 (n)
  • 82.86 (a)
Smn1 36
  • 84 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 67 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 63 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Smn1 35
  • 82.31 (n)
  • 80.82 (a)
chicken
(Gallus gallus)
Aves SMN 35
  • 65.35 (n)
  • 62.56 (a)
SMN 36
  • 60 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 62 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia smn2 35
  • 63.51 (n)
  • 58.85 (a)
zebrafish
(Danio rerio)
Actinopterygii smn1 35
  • 58.65 (n)
  • 55.27 (a)
smn1 36
  • 51 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea smn-1 36
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3529 36
  • 26 (a)
OneToMany
Species with no ortholog for SMN2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SMN2 Gene

ENSEMBL:
Gene Tree for SMN2 (if available)
TreeFam:
Gene Tree for SMN2 (if available)

Paralogs for SMN2 Gene

Paralogs for SMN2 Gene

Selected SIMAP similar genes for SMN2 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with SMN2: view

Variants for SMN2 Gene

Sequence variations from dbSNP and Humsavar for SMN2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs4916 -- 70,076,526(+) GGTTT(C/T)AGACA synonymous-codon, reference, intron-variant
rs152159 -- 70,071,236(-) aggca(A/C)ctgta intron-variant
rs212213 -- 70,076,789(-) CCACA(C/T)AACCA intron-variant
rs212216 -- 70,076,477(-) ATAGA(C/T)ATAGA intron-variant
rs212226 -- 70,072,890(-) ctgcc(C/T)tggcc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SMN2 Gene

Variant ID Type Subtype PubMed ID
nsv821643 CNV Loss 15273396
nsv881768 CNV Loss 21882294
nsv428117 CNV Gain+Loss 18775914
dgv6086n71 CNV Gain 21882294
nsv10707 CNV Gain+Loss 18304495
esv32846 CNV Loss 17666407
esv22113 CNV Gain+Loss 19812545
nsv433371 CNV Gain 18776910
dgv6087n71 CNV Loss 21882294
nsv881779 CNV Loss 21882294
dgv6090n71 CNV Loss 21882294
dgv1804e1 CNV Complex 17122850
dgv1805e1 CNV Complex 17122850
dgv1806e1 CNV Complex 17122850
dgv6091n71 CNV Loss 21882294
dgv6092n71 CNV Gain 21882294
dgv6093n71 CNV Loss 21882294
nsv508367 CNV Loss 20534489
dgv6094n71 CNV Loss 21882294
dgv6095n71 CNV Gain 21882294
dgv6096n71 CNV Gain 21882294
dgv6097n71 CNV Gain+Loss 21882294
dgv6098n71 CNV Loss 21882294
nsv511274 CNV Gain 21212237
dgv6099n71 CNV Loss 21882294
dgv6100n71 CNV Gain 21882294
dgv6101n71 CNV Loss 21882294
dgv6102n71 CNV Loss 21882294
dgv6103n71 CNV Loss 21882294
dgv6104n71 CNV Gain+Loss 21882294
nsv830335 CNV Gain 17160897
nsv881855 CNV Gain+Loss 21882294
dgv6105n71 CNV Gain 21882294
dgv6106n71 CNV Loss 21882294
dgv6107n71 CNV Gain+Loss 21882294
nsv881878 CNV Gain 21882294
dgv6108n71 CNV Loss 21882294
esv32787 CNV Gain+Loss 17666407
nsv881883 CNV Gain 21882294
nsv881890 CNV Loss 21882294
nsv471547 CNV Duplication 19718026
dgv6109n71 CNV Loss 21882294
nsv881892 CNV Gain+Loss 21882294
dgv6110n71 CNV Gain 21882294
nsv881894 CNV Loss 21882294
dgv6111n71 CNV Loss 21882294
nsv881899 CNV Gain 21882294
nsv511104 OTHER Inversion 20534489
nsv514311 CNV Complex 21397061
nsv881901 CNV Loss 21882294
nsv881902 CNV Gain+Loss 21882294
nsv881903 CNV Gain 21882294
dgv1807e1 CNV Complex 17122850
nsv511106 OTHER Inversion 20534489
nsv7371 OTHER Inversion 18451855
dgv6132n71 CNV Loss 21882294
nsv881986 CNV Gain 21882294
dgv6135n71 CNV Loss 21882294
nsv882003 CNV Gain 21882294
dgv6136n71 CNV Loss 21882294
nsv882006 CNV Gain 21882294
dgv6137n71 CNV Loss 21882294
dgv1808e1 CNV Complex 17122850
dgv6139n71 CNV Loss 21882294
dgv6140n71 CNV Gain+Loss 21882294
dgv6141n71 CNV Gain 21882294
dgv6142n71 CNV Gain 21882294
nsv882034 CNV Loss 21882294
dgv6143n71 CNV Gain+Loss 21882294
dgv6144n71 CNV Loss 21882294
dgv6145n71 CNV Loss 21882294
nsv469668 CNV Gain 16826518
dgv6146n71 CNV Gain+Loss 21882294
dgv6147n71 CNV Gain 21882294
dgv6148n71 CNV Loss 21882294
dgv6149n71 CNV Loss 21882294
dgv6150n71 CNV Loss 21882294
nsv882064 CNV Gain+Loss 21882294
dgv6151n71 CNV Loss 21882294
dgv6152n71 CNV Loss 21882294
dgv6153n71 CNV Gain 21882294
nsv830339 CNV Gain 17160897
esv2590135 CNV Gain 19546169
dgv19n31 CNV Duplication 19718026
nsv882084 CNV Gain+Loss 21882294
dgv6154n71 CNV Loss 21882294
dgv6155n71 CNV Gain+Loss 21882294
dgv6156n71 CNV Gain+Loss 21882294
dgv6157n71 CNV Gain+Loss 21882294
dgv1809e1 CNV Complex 17122850
dgv1810e1 CNV Complex 17122850
nsv507261 CNV Insertion 20534489
nsv471433 CNV Duplication 19718026
nsv511305 CNV Gain 21212237
dgv6158n71 CNV Loss 21882294
nsv882104 CNV Gain 21882294
dgv6159n71 CNV Gain 21882294
dgv6160n71 CNV Gain 21882294
nsv882112 CNV Gain 21882294
nsv882114 CNV Gain+Loss 21882294
nsv882115 CNV Loss 21882294
dgv6161n71 CNV Gain+Loss 21882294
nsv511285 CNV Gain 21212237

Relevant External Links for SMN2 Gene

HapMap Linkage Disequilibrium report
SMN2
Human Gene Mutation Database (HGMD)
SMN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMN2 Gene

Disorders for SMN2 Gene

(1) OMIM Diseases for SMN2 Gene (601627)

UniProtKB/Swiss-Prot

SMN_HUMAN
  • Spinal muscular atrophy 1 (SMA1) [MIM:253300]: A form of spinal muscular atrophy, a group of neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Autosomal recessive forms are classified according to the age of onset, the maximum muscular activity achieved, and survivorship. The severity of the disease is mainly determined by the copy number of SMN2, a copy gene which predominantly produces exon 7-skipped transcripts and only low amount of full-length transcripts that encode for a protein identical to SMN1. Only about 4% of SMA patients bear one SMN1 copy with an intragenic mutation. SMA1 is a severe form, with onset before 6 months of age. SMA1 patients never achieve the ability to sit. {ECO:0000269 PubMed:10732817, ECO:0000269 PubMed:15249625, ECO:0000269 PubMed:15580564, ECO:0000269 PubMed:7813012, ECO:0000269 PubMed:9147655}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spinal muscular atrophy 2 (SMA2) [MIM:253550]: An autosomal recessive form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. It has intermediate severity, with onset between 6 and 18 months. Patients do not reach the motor milestone of standing, and survive into adulthood. {ECO:0000269 PubMed:10732802, ECO:0000269 PubMed:9158159, ECO:0000269 PubMed:9837824}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spinal muscular atrophy 3 (SMA3) [MIM:253400]: An autosomal recessive form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Onset is after 18 months. Patients develop ability to stand and walk and survive into adulthood. {ECO:0000269 PubMed:10732817, ECO:0000269 PubMed:9158159, ECO:0000269 PubMed:9837824}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spinal muscular atrophy 4 (SMA4) [MIM:271150]: An autosomal recessive form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Onset is in adulthood, disease progression is slow, and patients can stand and walk. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for SMN2 Gene

(9) Novoseek inferred disease relationships for SMN2 Gene

Disease -log(P) Hits PubMed IDs
muscular atrophy spinal 98.3 68
werdnig-hoffmann disease 83.5 1
neuromuscular diseases 81.9 4
motor neuron disease 79.5 2
sma ii 75.9 2

Relevant External Links for SMN2

GeneTests
SMN2
GeneReviews
SMN2
Genetic Association Database (GAD)
SMN2
Human Genome Epidemiology (HuGE) Navigator
SMN2
genes like me logo Genes that share disorders with SMN2: view

Publications for SMN2 Gene

  1. The survival motor neuron protein in spinal muscular atrophy. (PMID: 9259265) Coovert D.D. … Burghes A.H.M. (Hum. Mol. Genet. 1997) 3 4 23
  2. Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis. (PMID: 11835381) Corcia P. … Andres C. (Ann. Neurol. 2002) 3 23 48
  3. An extended inhibitory context causes skipping of exon 7 of SMN2 in spinal muscular atrophy. (PMID: 14766219) Singh N.N. … Singh R.N. (Biochem. Biophys. Res. Commun. 2004) 3 23 48
  4. SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS. (PMID: 16093455) Veldink J.H. … Van den Berg L.H. (Neurology 2005) 3 23 48
  5. Determination of SMN1/SMN2 gene dosage by a quantitative genotyping platform combining capillary electrophoresis and MALDI-TOF mass spectrometry. (PMID: 16439605) Kao H.Y. … Chen Y.J. (Clin. Chem. 2006) 3 23 48

Products for SMN2 Gene

Sources for SMN2 Gene

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