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SPG7 (SPG7, paraplegin matrix AAA peptidase subunit)

Identity

Other namesCAR
CMAR
PGN
SPG5C
HGNC (Hugo) SPG7
LocusID (NCBI) 6687
Atlas_Id 42373
Location 16q24.3  [Link to chromosome band 16q24]
Location_base_pair Starts at 89574796 and ends at 89624176 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
C10orf11 (10q22.2) / SPG7 (16q24.3)CHD9 (16q12.2) / SPG7 (16q24.3)F3 (1p21.3) / SPG7 (16q24.3)
KLHDC4 (16q24.2) / SPG7 (16q24.3)NTN4 (12q22) / SPG7 (16q24.3)SPG7 (16q24.3) / FANCA (16q24.3)
SPG7 (16q24.3) / MALAT1 (11q13.1)SPG7 (16q24.3) / SPG7 (16q24.3)CHD9 16q12.2 / SPG7 16q24.3
KLHDC4 16q24.2 / SPG7 16q24.3

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)SPG7   11237
Cards
Entrez_Gene (NCBI)SPG7  6687  SPG7, paraplegin matrix AAA peptidase subunit
AliasesCAR; CMAR; PGN; SPG5C
GeneCards (Weizmann)SPG7
Ensembl hg19 (Hinxton)ENSG00000197912 [Gene_View]  chr16:89574796-89624176 [Contig_View]  SPG7 [Vega]
Ensembl hg38 (Hinxton)ENSG00000197912 [Gene_View]  chr16:89574796-89624176 [Contig_View]  SPG7 [Vega]
ICGC DataPortalENSG00000197912
TCGA cBioPortalSPG7
AceView (NCBI)SPG7
Genatlas (Paris)SPG7
WikiGenes6687
SOURCE (Princeton)SPG7
Genomic and cartography
GoldenPath hg19 (UCSC)SPG7  -     chr16:89574796-89624176 +  16q24.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SPG7  -     16q24.3   [Description]    (hg38-Dec_2013)
EnsemblSPG7 - 16q24.3 [CytoView hg19]  SPG7 - 16q24.3 [CytoView hg38]
Mapping of homologs : NCBISPG7 [Mapview hg19]  SPG7 [Mapview hg38]
OMIM602783   607259   
Gene and transcription
Genbank (Entrez)AF034795 AF090912 AK094627 AW250773 BC007692
RefSeq transcript (Entrez)NM_003119 NM_199367
RefSeq genomic (Entrez)NC_000016 NC_018927 NG_008082 NT_010498 NW_004929403
Consensus coding sequences : CCDS (NCBI)SPG7
Cluster EST : UnigeneHs.185597 [ NCBI ]
CGAP (NCI)Hs.185597
Alternative Splicing GalleryENSG00000197912
Gene ExpressionSPG7 [ NCBI-GEO ]   SPG7 [ EBI - ARRAY_EXPRESS ]   SPG7 [ SEEK ]   SPG7 [ MEM ]
Gene Expression Viewer (FireBrowse)SPG7 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6687
GTEX Portal (Tissue expression)SPG7
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UQ90 (Uniprot)
NextProtQ9UQ90  [Sequence]  [Exons]  [Medical]  [Publications]
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 ]   
PhosPhoSitePlusQ9UQ90
Domains : Interpro (EBI)AAA+_ATPase    ATPase_AAA_core    FtsH    P-loop_NTPase    Pept_M41_FtsH_extracell    Peptidase_M41   
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)SPG7
PDB (SRS)2QZ4   
PDB (PDBSum)2QZ4   
PDB (IMB)2QZ4   
PDB (RSDB)2QZ4   
Structural Biology KnowledgeBase2QZ4   
SCOP (Structural Classification of Proteins)2QZ4   
CATH (Classification of proteins structures)2QZ4   
SuperfamilyQ9UQ90
Human Protein AtlasENSG00000197912
Peptide AtlasQ9UQ90
HPRD04149
IPIIPI00299010   IPI00398508   IPI00982992   IPI00012864   IPI00006076   
Protein Interaction databases
DIP (DOE-UCLA)Q9UQ90
IntAct (EBI)Q9UQ90
FunCoupENSG00000197912
BioGRIDSPG7
STRING (EMBL)SPG7
ZODIACSPG7
Ontologies - Pathways
QuickGOQ9UQ90
Ontology : AmiGOATP-dependent peptidase activity  metalloendopeptidase activity  protein binding  ATP binding  mitochondrion  proteolysis  mitochondrion organization  cell adhesion  nervous system development  anterograde axonal transport  peptidase activity  zinc ion binding  integral component of membrane  mitochondrial membrane  unfolded protein binding  axon cytoplasm  
Ontology : EGO-EBIATP-dependent peptidase activity  metalloendopeptidase activity  protein binding  ATP binding  mitochondrion  proteolysis  mitochondrion organization  cell adhesion  nervous system development  anterograde axonal transport  peptidase activity  zinc ion binding  integral component of membrane  mitochondrial membrane  unfolded protein binding  axon cytoplasm  
NDEx NetworkSPG7
Atlas of Cancer Signalling NetworkSPG7
Wikipedia pathwaysSPG7
Orthology - Evolution
OrthoDB6687
GeneTree (enSembl)ENSG00000197912
Phylogenetic Trees/Animal Genes : TreeFamSPG7
Homologs : HomoloGeneSPG7
Homology/Alignments : Family Browser (UCSC)SPG7
Gene fusions - Rearrangements
Fusion: TCGACHD9 16q12.2 SPG7 16q24.3 BRCA
Fusion: TCGAKLHDC4 16q24.2 SPG7 16q24.3 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerSPG7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPG7
dbVarSPG7
ClinVarSPG7
1000_GenomesSPG7 
Exome Variant ServerSPG7
ExAC (Exome Aggregation Consortium)SPG7 (select the gene name)
Genetic variants : HAPMAP6687
Genomic Variants (DGV)SPG7 [DGVbeta]
Mutations
ICGC Data PortalSPG7 
TCGA Data PortalSPG7 
Broad Tumor PortalSPG7
OASIS PortalSPG7 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPG7 
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
BioMutasearch SPG7
DgiDB (Drug Gene Interaction Database)SPG7
DoCM (Curated mutations)SPG7 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SPG7 (select a term)
intoGenSPG7
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)16:89574796-89624176  ENSG00000197912
CONAN: Copy Number AnalysisSPG7 
Mutations and Diseases : HGMDSPG7
OMIM602783    607259   
MedgenSPG7
Genetic Testing Registry SPG7
NextProtQ9UQ90 [Medical]
TSGene6687
GENETestsSPG7
Huge Navigator SPG7 [HugePedia]
snp3D : Map Gene to Disease6687
BioCentury BCIQSPG7
ClinGenSPG7
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6687
Chemical/Pharm GKB GenePA36067
Clinical trialSPG7
Miscellaneous
canSAR (ICR)SPG7 (select the gene name)
Probes
Litterature
PubMed54 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSPG7
EVEXSPG7
GoPubMedSPG7
iHOPSPG7
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Oct 1 16:17:07 CEST 2016

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