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SMN2 (survival of motor neuron 2, centromeric)

Identity

Alias (NCBI)BCD541
C-BCD541
GEMIN1
SMNC
TDRD16B
HGNC (Hugo) SMN2
HGNC Alias symbBCD541
SMNC
GEMIN1
TDRD16B
HGNC Alias nametudor domain containing 16B
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)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

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    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]  ENSG00000205571 [Sequence]  chr5:70049523-70077595 [Contig_View]  SMN2 [Vega]
ICGC DataPortalENSG00000205571
TCGA cBioPortalSMN2
AceView (NCBI)SMN2
Genatlas (Paris)SMN2
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)
GoldenPathSMN2 - 5q13.2 [CytoView hg19]  SMN2 - 5q13.2 [CytoView hg38]
ImmunoBaseENSG00000205571
Genome Data Viewer NCBISMN2 [Mapview hg19]  
OMIM253400   601627   
Gene and transcription
Genbank (Entrez)AA029652 AI312583 AK289669 BC000908 BC015308
RefSeq transcript (Entrez)NM_017411 NM_022875 NM_022876 NM_022877
Consensus coding sequences : CCDS (NCBI)SMN2
Gene ExpressionSMN2 [ NCBI-GEO ]   SMN2 [ EBI - ARRAY_EXPRESS ]   SMN2 [ SEEK ]   SMN2 [ MEM ]
Gene Expression Viewer (FireBrowse)SMN2 [ Firebrowse - Broad ]
GenevisibleExpression of SMN2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6607
GTEX Portal (Tissue expression)SMN2
Human Protein AtlasENSG00000205571-SMN2 [pathology]   [cell]   [tissue]
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
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
PDB (RSDB)1G5V    1MHN    2LEH    4A4E    4A4G    4GLI    4QQ6    5XJL    5XJQ    5XJR    5XJS    5XJT    5XJU   
PDB Europe1G5V    1MHN    2LEH    4A4E    4A4G    4GLI    4QQ6    5XJL    5XJQ    5XJR    5XJS    5XJT    5XJU   
PDB (PDBSum)1G5V    1MHN    2LEH    4A4E    4A4G    4GLI    4QQ6    5XJL    5XJQ    5XJR    5XJS    5XJT    5XJU   
PDB (IMB)1G5V    1MHN    2LEH    4A4E    4A4G    4GLI    4QQ6    5XJL    5XJQ    5XJR    5XJS    5XJT    5XJU   
Structural Biology KnowledgeBase1G5V    1MHN    2LEH    4A4E    4A4G    4GLI    4QQ6    5XJL    5XJQ    5XJR    5XJS    5XJT    5XJU   
SCOP (Structural Classification of Proteins)1G5V    1MHN    2LEH    4A4E    4A4G    4GLI    4QQ6    5XJL    5XJQ    5XJR    5XJS    5XJT    5XJU   
CATH (Classification of proteins structures)1G5V    1MHN    2LEH    4A4E    4A4G    4GLI    4QQ6    5XJL    5XJQ    5XJR    5XJS    5XJT    5XJU   
SuperfamilyQ16637
AlphaFold pdb e-kbQ16637   
Human Protein Atlas [tissue]ENSG00000205571-SMN2 [tissue]
HPRD09036
Protein Interaction databases
DIP (DOE-UCLA)Q16637
IntAct (EBI)Q16637
BioGRIDSMN2
STRING (EMBL)SMN2
ZODIACSMN2
Ontologies - Pathways
QuickGOQ16637
Ontology : AmiGOspliceosomal complex assembly  spliceosomal complex assembly  spliceosomal snRNP assembly  spliceosomal snRNP assembly  spliceosomal snRNP assembly  RNA binding  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytosol  cytosol  DNA-templated transcription, termination  nervous system development  Cajal body  Cajal body  nuclear body  Z disc  axon  SMN complex  SMN complex  SMN-Sm protein complex  cytoplasmic ribonucleoprotein granule  identical protein binding  neuron projection  perikaryon  import into nucleus  Gemini of coiled bodies  Gemini of coiled bodies  
Ontology : EGO-EBIspliceosomal complex assembly  spliceosomal complex assembly  spliceosomal snRNP assembly  spliceosomal snRNP assembly  spliceosomal snRNP assembly  RNA binding  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytosol  cytosol  DNA-templated transcription, termination  nervous system development  Cajal body  Cajal body  nuclear body  Z disc  axon  SMN complex  SMN complex  SMN-Sm protein complex  cytoplasmic ribonucleoprotein granule  identical protein binding  neuron projection  perikaryon  import into nucleus  Gemini of coiled bodies  Gemini of coiled bodies  
NDEx NetworkSMN2
Atlas of Cancer Signalling NetworkSMN2
Wikipedia pathwaysSMN2
Orthology - Evolution
OrthoDB6607
GeneTree (enSembl)ENSG00000205571
Phylogenetic Trees/Animal Genes : TreeFamSMN2
Homologs : HomoloGeneSMN2
Homology/Alignments : Family Browser (UCSC)SMN2
Gene fusions - Rearrangements
Fusion : QuiverSMN2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMN2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMN2
dbVarSMN2
ClinVarSMN2
MonarchSMN2
1000_GenomesSMN2 
Exome Variant ServerSMN2
GNOMAD BrowserENSG00000205571
Varsome BrowserSMN2
ACMGSMN2 variants
VarityQ16637
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]  
Somatic Mutations in Cancer : COSMIC3DSMN2
Mutations and Diseases : HGMDSMN2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSMN2
DgiDB (Drug Gene Interaction Database)SMN2
DoCM (Curated mutations)SMN2
CIViC (Clinical Interpretations of Variants in Cancer)SMN2
Cancer3DSMN2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM253400    601627   
Orphanet11563    11566    11567    11565   
DisGeNETSMN2
MedgenSMN2
Genetic Testing Registry SMN2
NextProtQ16637 [Medical]
GENETestsSMN2
Target ValidationSMN2
Huge Navigator SMN2 [HugePedia]
ClinGenSMN2
Clinical trials, drugs, therapy
MyCancerGenomeSMN2
Protein Interactions : CTDSMN2
Pharm GKB GenePA35967
PharosQ16637
Clinical trialSMN2
Miscellaneous
canSAR (ICR)SMN2
HarmonizomeSMN2
DataMed IndexSMN2
Probes
Litterature
PubMed254 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSMN2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 16:21:33 CEST 2021

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