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SMN2 (survival of motor neuron 2, centromeric)

Identity

Alias_symbol (synonym)BCD541
SMNC
GEMIN1
TDRD16B
Other aliasC-BCD541
HGNC (Hugo) SMN2
LocusID (NCBI) 6607
Atlas_Id 73587
Location 5q13.2  [Link to chromosome band 5q13]
Location_base_pair Starts at 70049523 and ends at 70077595 bp from pter ( according to hg38-Dec_2013)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SMN2   11118
LRG (Locus Reference Genomic)LRG_677
Cards
Entrez_Gene (NCBI)SMN2  6607  survival of motor neuron 2, centromeric
AliasesBCD541; C-BCD541; GEMIN1; SMNC; 
TDRD16B
GeneCards (Weizmann)SMN2
Ensembl hg19 (Hinxton)ENSG00000205571 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000205571 [Gene_View]  chr5:70049523-70077595 [Contig_View]  SMN2 [Vega]
ICGC DataPortalENSG00000205571
TCGA cBioPortalSMN2
AceView (NCBI)SMN2
Genatlas (Paris)SMN2
WikiGenes6607
SOURCE (Princeton)SMN2
Genetics Home Reference (NIH)SMN2
Genomic and cartography
GoldenPath hg38 (UCSC)SMN2  -     chr5:70049523-70077595 +  5q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SMN2  -     5q13.2   [Description]    (hg19-Feb_2009)
EnsemblSMN2 - 5q13.2 [CytoView hg19]  SMN2 - 5q13.2 [CytoView hg38]
Mapping of homologs : NCBISMN2 [Mapview hg19]  SMN2 [Mapview hg38]
OMIM253400   601627   
Gene and transcription
Genbank (Entrez)AA029652 AI312583 AK289669 BC000908 BC015308
RefSeq transcript (Entrez)NM_017411 NM_022875 NM_022876 NM_022877
RefSeq genomic (Entrez)NC_000005 NC_018916 NG_008728 NT_187651
Consensus coding sequences : CCDS (NCBI)SMN2
Cluster EST : UnigeneHs.535788 [ NCBI ]
CGAP (NCI)Hs.535788
Alternative Splicing GalleryENSG00000205571
Gene ExpressionSMN2 [ NCBI-GEO ]   SMN2 [ EBI - ARRAY_EXPRESS ]   SMN2 [ SEEK ]   SMN2 [ MEM ]
Gene Expression Viewer (FireBrowse)SMN2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6607
GTEX Portal (Tissue expression)SMN2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16637   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ16637  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ16637
Splice isoforms : SwissVarQ16637
PhosPhoSitePlusQ16637
Domaine pattern : Prosite (Expaxy)TUDOR (PS50304)   
Domains : Interpro (EBI)Survival_motor_neuron    Tudor   
Domain families : Pfam (Sanger)SMN (PF06003)   
Domain families : Pfam (NCBI)pfam06003   
Domain families : Smart (EMBL)TUDOR (SM00333)  
Conserved Domain (NCBI)SMN2
DMDM Disease mutations6607
Blocks (Seattle)SMN2
PDB (SRS)1G5V    1MHN    2LEH    3S6N    4A4E    4A4G    4GLI    4QQ6   
PDB (PDBSum)1G5V    1MHN    2LEH    3S6N    4A4E    4A4G    4GLI    4QQ6   
PDB (IMB)1G5V    1MHN    2LEH    3S6N    4A4E    4A4G    4GLI    4QQ6   
PDB (RSDB)1G5V    1MHN    2LEH    3S6N    4A4E    4A4G    4GLI    4QQ6   
Structural Biology KnowledgeBase1G5V    1MHN    2LEH    3S6N    4A4E    4A4G    4GLI    4QQ6   
SCOP (Structural Classification of Proteins)1G5V    1MHN    2LEH    3S6N    4A4E    4A4G    4GLI    4QQ6   
CATH (Classification of proteins structures)1G5V    1MHN    2LEH    3S6N    4A4E    4A4G    4GLI    4QQ6   
SuperfamilyQ16637
Human Protein AtlasENSG00000205571
Peptide AtlasQ16637
HPRD09036
Protein Interaction databases
DIP (DOE-UCLA)Q16637
IntAct (EBI)Q16637
FunCoupENSG00000205571
BioGRIDSMN2
STRING (EMBL)SMN2
ZODIACSMN2
Ontologies - Pathways
QuickGOQ16637
Ontology : AmiGOspliceosomal complex assembly  spliceosomal complex assembly  spliceosomal snRNP assembly  spliceosomal snRNP assembly  RNA binding  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytosol  cytosol  DNA-templated transcription, termination  nervous system development  Cajal body  Z disc  SMN complex  SMN-Sm protein complex  cytoplasmic ribonucleoprotein granule  identical protein binding  neuron projection  perikaryon  nuclear import  Gemini of coiled bodies  
Ontology : EGO-EBIspliceosomal complex assembly  spliceosomal complex assembly  spliceosomal snRNP assembly  spliceosomal snRNP assembly  RNA binding  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytosol  cytosol  DNA-templated transcription, termination  nervous system development  Cajal body  Z disc  SMN complex  SMN-Sm protein complex  cytoplasmic ribonucleoprotein granule  identical protein binding  neuron projection  perikaryon  nuclear import  Gemini of coiled bodies  
Pathways : KEGGRNA transport   
NDEx NetworkSMN2
Atlas of Cancer Signalling NetworkSMN2
Wikipedia pathwaysSMN2
Orthology - Evolution
OrthoDB6607
GeneTree (enSembl)ENSG00000205571
Phylogenetic Trees/Animal Genes : TreeFamSMN2
HOVERGENQ16637
HOGENOMQ16637
Homologs : HomoloGeneSMN2
Homology/Alignments : Family Browser (UCSC)SMN2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMN2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMN2
dbVarSMN2
ClinVarSMN2
1000_GenomesSMN2 
Exome Variant ServerSMN2
ExAC (Exome Aggregation Consortium)SMN2 (select the gene name)
Genetic variants : HAPMAP6607
Genomic Variants (DGV)SMN2 [DGVbeta]
DECIPHERSMN2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSMN2 
Mutations
ICGC Data PortalSMN2 
TCGA Data PortalSMN2 
Broad Tumor PortalSMN2
OASIS PortalSMN2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSMN2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSMN2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SMN2
DgiDB (Drug Gene Interaction Database)SMN2
DoCM (Curated mutations)SMN2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SMN2 (select a term)
intoGenSMN2
Cancer3DSMN2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM253400    601627   
Orphanet11563    11566    11567    11565   
MedgenSMN2
Genetic Testing Registry SMN2
NextProtQ16637 [Medical]
TSGene6607
GENETestsSMN2
Target ValidationSMN2
Huge Navigator SMN2 [HugePedia]
snp3D : Map Gene to Disease6607
BioCentury BCIQSMN2
ClinGenSMN2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6607
Chemical/Pharm GKB GenePA35967
Clinical trialSMN2
Miscellaneous
canSAR (ICR)SMN2 (select the gene name)
Probes
Litterature
PubMed198 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSMN2
EVEXSMN2
GoPubMedSMN2
iHOPSMN2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:41:49 CEST 2017

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