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SPG7 (spastic paraplegia 7 (pure and complicated autosomal recessive))

Identity

Other namesCAR
CMAR
PGN
SPG5C
HGNC (Hugo) SPG7
LocusID (NCBI) 6687
Location 16q24.3
Location_base_pair Starts at 89574796 and ends at 89624176 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)SPG7   11237
Cards
Entrez_Gene (NCBI)SPG7  6687  spastic paraplegia 7 (pure and complicated autosomal recessive)
GeneCards (Weizmann)SPG7
Ensembl (Hinxton)ENSG00000197912 [Gene_View]  chr16:89574796-89624176 [Contig_View]  SPG7 [Vega]
ICGC DataPortalENSG00000197912
cBioPortalSPG7
AceView (NCBI)SPG7
Genatlas (Paris)SPG7
WikiGenes6687
SOURCE (Princeton)NM_003119 NM_199367
Genomic and cartography
GoldenPath (UCSC)SPG7  -  16q24.3   chr16:89574796-89624176 +  16q24.3   [Description]    (hg19-Feb_2009)
EnsemblSPG7 - 16q24.3 [CytoView]
Mapping of homologs : NCBISPG7 [Mapview]
OMIM602783   607259   
Gene and transcription
Genbank (Entrez)AF034795 AF090912 AK094627 AW250773 BC007692
RefSeq transcript (Entrez)NM_003119 NM_199367
RefSeq genomic (Entrez)AC_000148 NC_000016 NC_018927 NG_008082 NT_010498 NW_001838336 NW_004929403
Consensus coding sequences : CCDS (NCBI)SPG7
Cluster EST : UnigeneHs.185597 [ NCBI ]
CGAP (NCI)Hs.185597
Alternative Splicing : Fast-db (Paris)GSHG0011466
Alternative Splicing GalleryENSG00000197912
Gene ExpressionSPG7 [ NCBI-GEO ]     SPG7 [ SEEK ]   SPG7 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UQ90 (Uniprot)
NextProtQ9UQ90  [Medical]
With graphics : InterProQ9UQ90
Splice isoforms : SwissVarQ9UQ90 (Swissvar)
Catalytic activity : Enzyme3.4.24.- [ Enzyme-Expasy ]   3.4.24.-3.4.24.- [ IntEnz-EBI ]   3.4.24.- [ BRENDA ]   3.4.24.- [ KEGG ]   
Domains : Interpro (EBI)AAA+_ATPase [organisation]   ATPase_AAA_core [organisation]   FtsH [organisation]   P-loop_NTPase [organisation]   Pept_M41_FtsH_extracell [organisation]   Peptidase_M41 [organisation]  
Related proteins : CluSTrQ9UQ90
Domain families : Pfam (Sanger)AAA (PF00004)    FtsH_ext (PF06480)    Peptidase_M41 (PF01434)   
Domain families : Pfam (NCBI)pfam00004    pfam06480    pfam01434   
Domain families : Smart (EMBL)AAA (SM00382)  
DMDM Disease mutations6687
Blocks (Seattle)Q9UQ90
PDB (SRS)2QZ4   
PDB (PDBSum)2QZ4   
PDB (IMB)2QZ4   
PDB (RSDB)2QZ4   
Human Protein AtlasENSG00000197912 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ9UQ90
HPRD04149
IPIIPI00299010   IPI00398508   IPI00982992   IPI00012864   IPI00006076   
Protein Interaction databases
DIP (DOE-UCLA)Q9UQ90
IntAct (EBI)Q9UQ90
FunCoupENSG00000197912
BioGRIDSPG7
InParanoidQ9UQ90
Interologous Interaction database Q9UQ90
IntegromeDBSPG7
STRING (EMBL)SPG7
Ontologies - Pathways
Ontology : AmiGOmetalloendopeptidase activity  protein binding  ATP binding  mitochondrion  proteolysis  mitochondrion organization  nervous system development  anterograde axon cargo transport  cell death  peptidase activity  zinc ion binding  integral component of membrane  nucleoside-triphosphatase activity  mitochondrial membrane  unfolded protein binding  
Ontology : EGO-EBImetalloendopeptidase activity  protein binding  ATP binding  mitochondrion  proteolysis  mitochondrion organization  nervous system development  anterograde axon cargo transport  cell death  peptidase activity  zinc ion binding  integral component of membrane  nucleoside-triphosphatase activity  mitochondrial membrane  unfolded protein binding  
Protein Interaction DatabaseSPG7
Wikipedia pathwaysSPG7
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)SPG7
snp3D : Map Gene to Disease6687
SNP (GeneSNP Utah)SPG7
SNP : HGBaseSPG7
Genetic variants : HAPMAPSPG7
Exome VariantSPG7
1000_GenomesSPG7 
ICGC programENSG00000197912 
Somatic Mutations in Cancer : COSMICSPG7 
CONAN: Copy Number AnalysisSPG7 
Mutations and Diseases : HGMDSPG7
Genomic VariantsSPG7  SPG7 [DGVbeta]
dbVarSPG7
ClinVarSPG7
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM602783    607259   
MedgenSPG7
GENETestsSPG7
Disease Genetic AssociationSPG7
Huge Navigator SPG7 [HugePedia]  SPG7 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneSPG7
Homology/Alignments : Family Browser (UCSC)SPG7
Phylogenetic Trees/Animal Genes : TreeFamSPG7
Chemical/Protein Interactions : CTD6687
Chemical/Pharm GKB GenePA36067
Clinical trialSPG7
Cancer Resource (Charite)ENSG00000197912
Other databases
Probes
Litterature
PubMed47 Pubmed reference(s) in Entrez
CoreMineSPG7
iHOPSPG7
OncoSearchSPG7
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jul 30 14:16:52 CEST 2014

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