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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SMN2 Gene

protein-coding   GIFtS: 61
GCID: GC05P069345

survival of motor neuron 2, centromeric
 Explore 17 diseases affiliated with
SMN2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SMN2    

Aliases
for SMN2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Survival Of Motor Neuron 2, Centromeric1 2     Gemin-13
SMNC1 2 3     Survival Motor Neuron Protein2
BCD5411 2     Tudor Domain Containing 16B2
GEMIN11 2     Gemin-13
TDRD16B1 2     SMN3
Component Of Gems 12 3     SMNT3
C-BCD5412     

External Ids:    HGNC: 111181   Entrez Gene: 66072   Ensembl: ENSG000002055717   OMIM: 6016275   UniProtKB: Q166373   

Export aliases for SMN2 gene to outside databases

Previous GC identifers: GC05U990054 GC05M034821 GC05P069880 GC05P069382


Summaries
for SMN2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SMN2:
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)

UniProtKB/Swiss-Prot: SMN_HUMAN, Q16637
Function: The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for
pre-mRNA splicing in the nucleus. It may also play a role in the metabolism of snoRNPs

Gene Wiki entry for SMN2


Genomic Views
for SMN2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_006713.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SMN2 gene promoter:
         POU2F1   POU2F1a   STAT5A   XBP-1   Evi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SMN2 promoter sequence
   Search SABiosciences Chromatin IP Primers for SMN2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMN2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q13.2   Ensembl cytogenetic band:  5q13.2   HGNC cytogenetic band: 5q13.2

SMN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMN2 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P069345:  view genomic region     (about GC identifiers)

Start:
 69,345,350 bp from pter      End:
 69,374,349 bp from pter
Size:
 29,000 bases      Orientation:
 plus strand

Proteins
for SMN2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: SMN_HUMAN, Q16637 (See protein sequence)
Recommended Name: Survival motor neuron protein  
Size: 294 amino acids; 31849 Da
Subunit: Component of an import snRNP complex composed of KPNB1, RNUT1, SMN1 and ZNF259. Part of the core SMN complex
that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP. 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 and LSM11
Subcellular location: Cytoplasm. Nucleus, gem. Note=Localized in subnuclear structures next to coiled bodies, called
Gemini of Cajal bodies (Gems)
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
6/7 PDB 3D structures from and Proteopedia for SMN2 (see all 7):
1G5V (3D)        1MHN (3D)        2LEH (3D)        3S6N (3D)        4A4E (3D)        4A4G (3D)    
Secondary accessions: A8K0V4 Q13119 Q549U5 Q96J51
Alternative splicing: 4 isoforms:  Q16637-1   Q16637-2   Q16637-3   Q16637-4   (Thought to be a nonfunctional protein that lacks the capacity to oligomerize and thus cannot interact with Sm proteins. Primarily derived from SMN2 gene)

Explore the universe of human proteins at neXtProt for SMN2: NX_Q16637

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q16637

    • SMN2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (4 alternative transcripts): 
    NP_059107.1  NP_075013.1  NP_075014.1  NP_075015.1  

    ENSEMBL proteins: 
     ENSP00000370119   ENSP00000424282   ENSP00000424799   ENSP00000370118   ENSP00000370117  
    Reactome Protein details: Q16637
    Human Recombinant Protein Products: 
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    Novus Biologicals SMN2 Proteins
    Novus Biologicals SMN2 Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SMN2

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005654nucleoplasm TAS--
    GO:0005681spliceosomal complex IEA--
    GO:0005737cytoplasm NAS9845364
    GO:0005829cytosol TAS--


    SMN2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for SMN2

    Protein Domains /
    Families
    for SMN2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SMN2 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR010304 Survival_motor_neuron
     IPR002999 Tudor

    Graphical View of Domain Structure for InterPro Entry Q16637

    ProtoNet protein and cluster: Q16637

    2 Blocks protein families:
    IPB002999 Tudor domain
    IPB010304 Survival motor neuron


    UniProtKB/Swiss-Prot: SMN_HUMAN, Q16637
    Domain: The Tudor domain mediates association with dimethylarginines, which are common in snRNP proteins
    Similarity: Belongs to the SMN family
    Similarity: Contains 1 Tudor domain


    Function
    for SMN2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: SMN_HUMAN, Q16637
    Function: The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for
    pre-mRNA splicing in the nucleus. It may also play a role in the metabolism of snoRNPs

         Genatlas biochemistry entry for SMN2:
    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

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--
    GO:0005515protein binding IPI15494309


    SMN2 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for SMN2:
     Decreased G3BP1 protein expres 


    Pathways & Interactions
    for SMN2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1RNA transport
    		RNA transport1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    4        Reactome Pathways for SMN2
        snRNP Assembly
    Metabolism of RNA
    Gene Expression
    Metabolism of non-coding RNA


    1         Kegg Pathway  (Kegg details for SMN2):
        RNA transport


    SMN2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SMN2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/919 Interacting proteins for SMN2 (Q166371, 2, 3 ENSP000003701194) via UniProtKB, MINT, STRING, and/or I2D (see all 919)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000245spliceosomal complex assembly NAS9845364
    GO:0000387spliceosomal snRNP assembly TAS--
    GO:0006397mRNA processing ----
    GO:0008219cell death IEA--
    GO:0010467gene expression TAS--


    SMN2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SMN2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SMN2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SMN2
    8 Novoseek chemical compound relationships for SMN2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phenylbutyrate 76.2 9 18345520 (3), 14560316 (3), 16508748 (1), 17076267 (1)
    nsc34 69.6 3 11734549 (1), 17220171 (1)
    valproic acid 51.5 6 12915451 (3), 16805808 (1), 16508748 (1), 17076267 (1)
    aclarubicin 45.3 4 11734549 (2), 17220171 (1)
    sodium orthovanadate 32.3 5 17220171 (2), 11704813 (1)
    oligonucleotide 22.2 6 16449646 (3), 17647030 (1), 19535574 (1)
    ribonucleic acid 6.92 10 17761657 (4), 17761653 (1)
    butyrate 5.05 2 11504946 (1), 17076267 (1)

    Search CenterWatch for drugs/clinical trials and news about SMN2 / SMN 

    Transcripts
    for SMN2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for SMN2 gene (4 alternative transcripts): 
    NM_017411.3  NM_022875.2  NM_022876.2  NM_022877.2  

    Unigene Cluster for SMN2:

    Survival of motor neuron 2, centromeric
    Hs.202179  [show with all ESTs]
    Unigene Representative Sequence: NM_017411
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380743 ENST00000511812(uc011crm.2) ENST00000506734 ENST00000380742
    ENST00000503678 ENST00000511873 ENST00000509805 ENST00000505346 ENST00000514914
    ENST00000508258 ENST00000507458 ENST00000380741(uc003jyd.3 uc003jyf.3 uc003jye.3 uc003jyg.3)


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    Inhib. RNA
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    Additional cDNA sequence: 

    AK289669.1 BC000908.2 BC015308.1 BC070242.1 DQ185039.1 JQ690861.1 JQ690862.1 JQ690863.1 
    JQ690864.1 JQ690865.1 JQ690866.1 U21914.1 

    21 DOTS entries:

    DT.91752366  DT.100810925  DT.99958452  DT.100810924  DT.95367672  DT.100708213  DT.91693694  DT.91752362 
    DT.100018657  DT.100810927  DT.86835738  DT.95367668  DT.100810920  DT.100810926  DT.100799306  DT.91748418 
    DT.100765329  DT.100810917  DT.120845147  DT.428244  DT.91941076 

    24/485 AceView cDNA sequences (see all 485):

    CA426506 CA748695 AA989486 CF265001 BG028018 BM686659 BQ775756 AA740388 
    AW467123 AI921459 AA973579 AW194537 CK904564 AI708117 CB306328 AI921471 
    BM711678 AI367511 BM054868 AI825654 BM804381 AI214382 AA770391 BX642318 

    GeneLoc Exon Structure


    Expression
    for SMN2 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SMN2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See SMN2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SMN2

    SOURCE GeneReport for Unigene cluster: Hs.202179

    UniProtKB/Swiss-Prot: SMN_HUMAN, Q16637
    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)

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    In Situ
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    Orthologs
    for SMN2 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for SMN2 gene from 5/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SMN1 survival of motor neuron 67.07(n)
    64.78(a)    		   374025  NM_204199.1  NP_989530.1 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    		 --
    		 62(a)
    		 1 → many
    		 2(16890021-16899453)
    zebrafish
    (Danio rerio)    		 Actinopterygii smn11 survival motor neuron 1 61.07(n)
    58.98(a)    		   30432  NM_131191.1  NP_571266.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Smn6
    		 survival motor neuron
    		 27(a)
    		 1 → many
    		 3L(16573498-16574647)
    worm
    (Caenorhabditis elegans)    		 Secernentea smn-16
    		 SMN (human Survival Motor Neuron gene) homolog fam...
    		 32(a)
    		 1 → many
    		 I(9511182-9512131)


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

    Paralogs
    for SMN2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SMN2 gene
    SMN11 2  SMNDC12  
    2 SIMAP similar genes for SMN2 using alignment to 10 protein entries:     SMN_HUMAN (see all proteins):
    SMN    SMN1

    SMN2 for paralogs           About GeneDecksing



    Genomic Variants
    for SMN2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/25 NCBI SNPs in SMN2 are shown (see all 25)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 5 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219091921,2
    		C,Fpathogenic69372372(+) AAGAAG/CGAAGG 6 /R /G mis1 int12Minor allele frequency- C:0.00NA EU 4695
    rs1418709271,2
    		--69343570(+) TGGAGG/TGCAGG 4 -- us2k10--------
    rs1930126701,2
    		--69343629(+) CATGAA/GATTTA 4 -- us2k10--------
    rs2000958201,2
    		--69343637(+) TTAAA-/TTTTTT 4 -- us2k10--------
    rs1857358891,2
    		--69343771(+) ACCTCC/TGCCTC 4 -- us2k10--------
    rs1470887681,2
    		--69343795(+) ATTCTC/GCTGGC 4 -- us2k10--------
    rs799771771,2
    		C,--69370574(+) CAACAC/GTTTGG 4 -- int10--------
    rs1899553891,2
    		--69370750(+) GAAGGC/TGGAGG 4 -- int10--------
    rs1821939241,2
    		--69371363(+) TAGAGA/TCGGGA 4 -- int10--------
    rs1840756651,2
    		--69371417(+) TGATCC/TGCCCG 4 -- int10--------

    HapMap Linkage Disequilibrium report for SMN2 (69345350 - 69374349 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 47 variations for SMN2
         15/45 CNVs (see all 45): 4452 69103 69125 4449 69095 31241 69097 69087 32723 69094 93094 69093 37550 7500 69126
         2 Inversions: 37264 37263
    Human Gene Mutation Database (HGMD): SMN2

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for SMN2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SMN2 for disorders           About GeneDecksing

    OMIM gene information: 601627   
    OMIM disorders: 253400  
    UniProtKB/Swiss-Prot: SMN_HUMAN, Q16637
  • Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 1 (SMA1) [MIM:253300].
    • Spinal muscular atrophy refers to a group of neuromuscular disorders 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
  • Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 2 (SMA2) [MIM:253550]. SMA2
    • is an autosomal recessive spinal muscular atrophy of intermediate severity, with onset between 6 and 18 months.
    Patients do not reach the motor milestone of standing, and survive into adulthood
  • Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400]. SMA3
    • is an autosomal recessive spinal muscular atrophy with onset after 18 months. SMA3 patients develop ability to stand
    and walk and survive into adulthood
  • Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 4 (SMA4) [MIM:271150]. SMA4
    • is an autosomal recessive spinal muscular atrophy characterized by symmetric proximal muscle weakness with onset in
    adulthood and slow disease progression. SMA4 patients can stand and walk

    17 diseases for SMN2:    About MalaCards
    spinal muscular atrophy    spinal muscular atrophy, type iii, modifier of    muscular atrophy    spinal muscular atrophy (smn2)
    proximal spinal muscular atrophy    adult spinal muscular atrophy    werdnig-hoffmann disease    spinal cord disease
    motor neuron disease    lower motor neuron disease    multifocal motor neuropathy    amyotrophic lateral sclerosis
    neuronitis    lateral sclerosis    neuromuscular disease    neurodegenerative disease
    neuropathy

    4 diseases from the University of Copenhagen DISEASES database for SMN2:
    Spinal muscular atrophy     Muscular atrophy     Neuropathy     Autosomal recessive disease

    9 Novoseek disease relationships for SMN2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    muscular atrophy spinal 98.3 72 16554261 (3), 17761649 (2), 18546169 (2), 20194437 (2) (see all 58)
    werdnig-hoffmann disease 83.5 2 19207472 (1)
    neuromuscular diseases 81.9 4 17761649 (1), 18546169 (1), 16439605 (1), 18971205 (1)
    motor neuron disease 79.5 3 19207472 (1), 17850955 (1)
    sma ii 75.9 2 17407069 (1), 17433677 (1)
    sma iii 75.6 9 17407069 (4), 18842367 (1), 15305106 (1), 19953646 (1)
    motor neuron disease lower 71.9 6 11993528 (3), 16931506 (1), 11835381 (1)
    spinal disorder 59.8 1 15944201 (1)
    amyotrophic lateral sclerosis 33 4 9585359 (1), 19922137 (1), 16931506 (1), 11835381 (1)

    GeneTests: SMN2
    Spinal Muscular Atrophy

    Genetic Association Database (GAD): SMN2
    Human Genome Epidemiology (HuGE) Navigator: SMN2 (19 documents)

    Export disorders for SMN2 gene to outside databases

    Publications
    for SMN2 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SMN2 gene, integrated from 9 sources (see all 267):
    (articles sorted by number of sources associating them with SMN2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of a spinal muscular atrophy- determining gene. (PubMed id 7813012)1, 2, 3 Lefebvre S....Melki J. (1995)
    2. The survival motor neuron protein in spinal muscular atrophy. (PubMed id 9259265)1, 2, 9 Coovert D.D.... Burghes A.H.M. (1997)
    3. SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS. (PubMed id 16093455)1, 4, 9 Veldink J.H....Van den Berg L.H. (2005)
    4. An extended inhibitory context causes skipping of exon 7 of SMN2 in spinal muscular atrophy. (PubMed id 14766219)1, 4, 9 Singh N.N....Singh R.N. (2004)
    5. Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis. (PubMed id 11835381)1, 4, 9 Corcia P....Andres C. (2002)
    6. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    7. Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy. (PubMed id 15580564)1, 2 Sun Y.... Wirth B. (2005)
    8. Toward an assembly line for U7 snRNPs: interactions of U7-specific Lsm proteins with PRMT5 and SMN complexes. (PubMed id 16087681)1, 2 Azzouz T.N.... Schuemperli D. (2005)
    9. The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)1, 2 Schmutz J.... Rubin E.M. (2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    External Searches for SMN2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SMN2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6607 HGNC: 11118 AceView: SMN1 Ensembl:ENSG00000205571 euGenes: HUgn6607
    ECgene: SMN2 Kegg: 6607 H-InvDB: SMN2

    Other Databases showing SMN2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SMN2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SMN2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SMN1
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SMN2
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=SMN1

    Intellectual Property
    for SMN2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SMN2 gene:
    Search GeneIP for patents involving SMN2

    GeneCards and IP:
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