Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

SPAST (spastin)

Identity

Alias_namesSPG4
spastic paraplegia 4 (autosomal dominant
Alias_symbol (synonym)FSP2
ADPSP
KIAA1083
Other alias
HGNC (Hugo) SPAST
LocusID (NCBI) 6683
Atlas_Id 56127
Location 2p22.3  [Link to chromosome band 2p22]
Location_base_pair Starts at 32288680 and ends at 32382706 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
BICD1 (12p11.21) / SPAST (2p22.3)DPP10 (2q14.1) / SPAST (2p22.3)TTC27 (2p22.3) / SPAST (2p22.3)

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)SPAST   11233
LRG (Locus Reference Genomic)LRG_714
Cards
Entrez_Gene (NCBI)SPAST  6683  spastin
AliasesADPSP; FSP2; SPG4
GeneCards (Weizmann)SPAST
Ensembl hg19 (Hinxton)ENSG00000021574 [Gene_View]  chr2:32288680-32382706 [Contig_View]  SPAST [Vega]
Ensembl hg38 (Hinxton)ENSG00000021574 [Gene_View]  chr2:32288680-32382706 [Contig_View]  SPAST [Vega]
ICGC DataPortalENSG00000021574
TCGA cBioPortalSPAST
AceView (NCBI)SPAST
Genatlas (Paris)SPAST
WikiGenes6683
SOURCE (Princeton)SPAST
Genetics Home Reference (NIH)SPAST
Genomic and cartography
GoldenPath hg19 (UCSC)SPAST  -     chr2:32288680-32382706 +  2p22.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SPAST  -     2p22.3   [Description]    (hg38-Dec_2013)
EnsemblSPAST - 2p22.3 [CytoView hg19]  SPAST - 2p22.3 [CytoView hg38]
Mapping of homologs : NCBISPAST [Mapview hg19]  SPAST [Mapview hg38]
OMIM182601   604277   
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_014946 NM_199436
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SPAST
Cluster EST : UnigeneHs.468091 [ NCBI ]
CGAP (NCI)Hs.468091
Alternative Splicing GalleryENSG00000021574
Gene ExpressionSPAST [ NCBI-GEO ]   SPAST [ EBI - ARRAY_EXPRESS ]   SPAST [ SEEK ]   SPAST [ MEM ]
Gene Expression Viewer (FireBrowse)SPAST [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6683
GTEX Portal (Tissue expression)SPAST
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UBP0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UBP0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UBP0
Splice isoforms : SwissVarQ9UBP0
PhosPhoSitePlusQ9UBP0
Domaine pattern : Prosite (Expaxy)AAA (PS00674)   
Domains : Interpro (EBI)AAA+_ATPase    ATPase_AAA_core    ATPase_AAA_CS    MIT    P-loop_NTPase    Spastin    Vps4_C   
Domain families : Pfam (Sanger)AAA (PF00004)    Vps4_C (PF09336)   
Domain families : Pfam (NCBI)pfam00004    pfam09336   
Domain families : Smart (EMBL)AAA (SM00382)  MIT (SM00745)  
Conserved Domain (NCBI)SPAST
DMDM Disease mutations6683
Blocks (Seattle)SPAST
PDB (SRS)3EAB    3VFD   
PDB (PDBSum)3EAB    3VFD   
PDB (IMB)3EAB    3VFD   
PDB (RSDB)3EAB    3VFD   
Structural Biology KnowledgeBase3EAB    3VFD   
SCOP (Structural Classification of Proteins)3EAB    3VFD   
CATH (Classification of proteins structures)3EAB    3VFD   
SuperfamilyQ9UBP0
Human Protein AtlasENSG00000021574
Peptide AtlasQ9UBP0
HPRD05044
IPIIPI00002707   IPI00219816   IPI00923553   IPI00923524   
Protein Interaction databases
DIP (DOE-UCLA)Q9UBP0
IntAct (EBI)Q9UBP0
FunCoupENSG00000021574
BioGRIDSPAST
STRING (EMBL)SPAST
ZODIACSPAST
Ontologies - Pathways
QuickGOQ9UBP0
Ontology : AmiGOmitotic cytokinesis  microtubule bundle formation  protein binding  ATP binding  nucleus  cytoplasm  endosome  endoplasmic reticulum  endoplasmic reticulum membrane  lipid particle  centrosome  spindle  microtubule  ER to Golgi vesicle-mediated transport  axonogenesis  microtubule binding  anterograde axonal transport  metabolic process  microtubule-severing ATPase activity  exit from mitosis  microtubule cytoskeleton  integral component of membrane  axonal transport of mitochondrion  midbody  midbody  midbody  positive regulation of microtubule depolymerization  cytoplasmic microtubule organization  cytoplasmic vesicle  nuclear envelope reassembly  nuclear membrane  positive regulation of cytokinesis  cytokinetic process  protein hexamerization  alpha-tubulin binding  perinuclear region of cytoplasm  beta-tubulin binding  beta-tubulin binding  microtubule severing  microtubule severing  mitotic spindle disassembly  protein homooligomerization  extracellular exosome  membrane fission  axon cytoplasm  
Ontology : EGO-EBImitotic cytokinesis  microtubule bundle formation  protein binding  ATP binding  nucleus  cytoplasm  endosome  endoplasmic reticulum  endoplasmic reticulum membrane  lipid particle  centrosome  spindle  microtubule  ER to Golgi vesicle-mediated transport  axonogenesis  microtubule binding  anterograde axonal transport  metabolic process  microtubule-severing ATPase activity  exit from mitosis  microtubule cytoskeleton  integral component of membrane  axonal transport of mitochondrion  midbody  midbody  midbody  positive regulation of microtubule depolymerization  cytoplasmic microtubule organization  cytoplasmic vesicle  nuclear envelope reassembly  nuclear membrane  positive regulation of cytokinesis  cytokinetic process  protein hexamerization  alpha-tubulin binding  perinuclear region of cytoplasm  beta-tubulin binding  beta-tubulin binding  microtubule severing  microtubule severing  mitotic spindle disassembly  protein homooligomerization  extracellular exosome  membrane fission  axon cytoplasm  
NDEx NetworkSPAST
Atlas of Cancer Signalling NetworkSPAST
Wikipedia pathwaysSPAST
Orthology - Evolution
OrthoDB6683
GeneTree (enSembl)ENSG00000021574
Phylogenetic Trees/Animal Genes : TreeFamSPAST
HOVERGENQ9UBP0
HOGENOMQ9UBP0
Homologs : HomoloGeneSPAST
Homology/Alignments : Family Browser (UCSC)SPAST
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPAST [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPAST
dbVarSPAST
ClinVarSPAST
1000_GenomesSPAST 
Exome Variant ServerSPAST
ExAC (Exome Aggregation Consortium)SPAST (select the gene name)
Genetic variants : HAPMAP6683
Genomic Variants (DGV)SPAST [DGVbeta]
DECIPHER (Syndromes)2:32288680-32382706  ENSG00000021574
CONAN: Copy Number AnalysisSPAST 
Mutations
ICGC Data PortalSPAST 
TCGA Data PortalSPAST 
Broad Tumor PortalSPAST
OASIS PortalSPAST [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPAST  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSPAST
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
LOVD (Leiden Open Variation Database)SpainMDB
BioMutasearch SPAST
DgiDB (Drug Gene Interaction Database)SPAST
DoCM (Curated mutations)SPAST (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SPAST (select a term)
intoGenSPAST
Cancer3DSPAST(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM182601    604277   
Orphanet14696   
MedgenSPAST
Genetic Testing Registry SPAST
NextProtQ9UBP0 [Medical]
TSGene6683
GENETestsSPAST
Huge Navigator SPAST [HugePedia]
snp3D : Map Gene to Disease6683
BioCentury BCIQSPAST
ClinGenSPAST
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6683
Chemical/Pharm GKB GenePA36063
Clinical trialSPAST
Miscellaneous
canSAR (ICR)SPAST (select the gene name)
Probes
Litterature
PubMed164 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSPAST
EVEXSPAST
GoPubMedSPAST
iHOPSPAST
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Mar 30 15:20:33 CEST 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.