Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SPG20 (spastic paraplegia 20 (Troyer syndrome))

Identity

Other namesSPARTIN
TAHCCP1
HGNC (Hugo) SPG20
LocusID (NCBI) 23111
Location 13q13.3
Location_base_pair Starts at 36875775 and ends at 36944317 bp from pter ( according to hg19-Feb_2009)
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)SPG20   18514
Cards
Entrez_Gene (NCBI)SPG20  23111  spastic paraplegia 20 (Troyer syndrome)
GeneCards (Weizmann)SPG20
Ensembl hg19 (Hinxton)ENSG00000133104 [Gene_View]  chr13:36875775-36944317 [Contig_View]  SPG20 [Vega]
Ensembl hg38 (Hinxton)ENSG00000133104 [Gene_View]  chr13:36875775-36944317 [Contig_View]  SPG20 [Vega]
ICGC DataPortalENSG00000133104
cBioPortalSPG20
AceView (NCBI)SPG20
Genatlas (Paris)SPG20
WikiGenes23111
SOURCE (Princeton)SPG20
Genomic and cartography
GoldenPath hg19 (UCSC)SPG20  -     chr13:36875775-36944317 -  13q13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SPG20  -     13q13.3   [Description]    (hg38-Dec_2013)
EnsemblSPG20 - 13q13.3 [CytoView hg19]  SPG20 - 13q13.3 [CytoView hg38]
Mapping of homologs : NCBISPG20 [Mapview hg19]  SPG20 [Mapview hg38]
OMIM275900   607111   
Gene and transcription
Genbank (Entrez)AA137195 AB011182 AK001949 AK002207 AK057764
RefSeq transcript (Entrez)NM_001142294 NM_001142295 NM_001142296 NM_015087
RefSeq genomic (Entrez)AC_000145 NC_000013 NC_018924 NG_011559 NT_024524 NW_001838073 NW_004929388
Consensus coding sequences : CCDS (NCBI)SPG20
Cluster EST : UnigeneHs.440414 [ NCBI ]
CGAP (NCI)Hs.440414
Alternative Splicing : Fast-db (Paris)GSHG0008422
Alternative Splicing GalleryENSG00000133104
Gene ExpressionSPG20 [ NCBI-GEO ]     SPG20 [ SEEK ]   SPG20 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N0X7 (Uniprot)
NextProtQ8N0X7  [Medical]
With graphics : InterProQ8N0X7
Splice isoforms : SwissVarQ8N0X7 (Swissvar)
Domains : Interpro (EBI)MIT    Senescence/spartin   
Related proteins : CluSTrQ8N0X7
Domain families : Pfam (Sanger)MIT (PF04212)    Senescence (PF06911)   
Domain families : Pfam (NCBI)pfam04212    pfam06911   
Domain families : Smart (EMBL)MIT (SM00745)  
DMDM Disease mutations23111
Blocks (Seattle)Q8N0X7
PDB (SRS)2DL1   
PDB (PDBSum)2DL1   
PDB (IMB)2DL1   
PDB (RSDB)2DL1   
Human Protein AtlasENSG00000133104
Peptide AtlasQ8N0X7
HPRD06170
IPIIPI00430622   
Protein Interaction databases
DIP (DOE-UCLA)Q8N0X7
IntAct (EBI)Q8N0X7
FunCoupENSG00000133104
BioGRIDSPG20
IntegromeDBSPG20
STRING (EMBL)SPG20
Ontologies - Pathways
QuickGOQ8N0X7
Ontology : AmiGOprotein binding  cytoplasm  mitochondrial outer membrane  lipid particle  plasma membrane  cell death  abscission  midbody  negative regulation of BMP signaling pathway  ubiquitin protein ligase binding  lipid particle organization  synapse  negative regulation of collateral sprouting in absence of injury  neuromuscular process  cell division  regulation of mitochondrial membrane potential  adipose tissue development  
Ontology : EGO-EBIprotein binding  cytoplasm  mitochondrial outer membrane  lipid particle  plasma membrane  cell death  abscission  midbody  negative regulation of BMP signaling pathway  ubiquitin protein ligase binding  lipid particle organization  synapse  negative regulation of collateral sprouting in absence of injury  neuromuscular process  cell division  regulation of mitochondrial membrane potential  adipose tissue development  
Protein Interaction DatabaseSPG20
DoCM (Curated mutations)SPG20
Wikipedia pathwaysSPG20
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerSPG20 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPG20
dbVarSPG20
ClinVarSPG20
1000_GenomesSPG20 
Exome Variant ServerSPG20
SNP (GeneSNP Utah)SPG20
SNP : HGBaseSPG20
Genetic variants : HAPMAPSPG20
Genomic VariantsSPG20  SPG20 [DGVbeta]
Mutations
ICGC Data PortalENSG00000133104 
Somatic Mutations in Cancer : COSMICSPG20 
CONAN: Copy Number AnalysisSPG20 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)13:36875775-36944317
Mutations and Diseases : HGMDSPG20
OMIM275900    607111   
MedgenSPG20
NextProtQ8N0X7 [Medical]
GENETestsSPG20
Disease Genetic AssociationSPG20
Huge Navigator SPG20 [HugePedia]  SPG20 [HugeCancerGEM]
snp3D : Map Gene to Disease23111
DGIdb (Drug Gene Interaction db)SPG20
General knowledge
Homologs : HomoloGeneSPG20
Homology/Alignments : Family Browser (UCSC)SPG20
Phylogenetic Trees/Animal Genes : TreeFamSPG20
Chemical/Protein Interactions : CTD23111
Chemical/Pharm GKB GenePA134871645
Clinical trialSPG20
Cancer Resource (Charite)ENSG00000133104
Other databases
Probes
Litterature
PubMed48 Pubmed reference(s) in Entrez
CoreMineSPG20
GoPubMedSPG20
iHOPSPG20
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 01:42:00 CET 2014

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