Atlas of Genetics and Cytogenetics in Oncology and Haematology

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SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin)

Identity

Alias (NCBI)CAR
CMAR
PGN
SPG5C
HGNC (Hugo) SPG7
HGNC Alias symbCAR
SPG5C
HGNC Alias nameparaplegin
HGNC Previous nameCMAR
HGNC Previous namecell matrix adhesion regulator
 spastic paraplegia 7 (pure and complicated autosomal recessive)
LocusID (NCBI) 6687
Atlas_Id 42373
Location 16q24.3  [Link to chromosome band 16q24]
Location_base_pair Starts at 89508403 and ends at 89537721 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)
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

 

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(16;16)(q24;q24) ANKRD11/SPG7

External links

Nomenclature
HGNC (Hugo)SPG7   11237
Cards
Entrez_Gene (NCBI)SPG7    SPG7 matrix AAA peptidase subunit, paraplegin
AliasesCAR; CMAR; PGN; SPG5C
GeneCards (Weizmann)SPG7
Ensembl hg19 (Hinxton)ENSG00000197912 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000197912 [Gene_View]  ENSG00000197912 [Sequence]  chr16:89508403-89537721 [Contig_View]  SPG7 [Vega]
ICGC DataPortalENSG00000197912
TCGA cBioPortalSPG7
AceView (NCBI)SPG7
Genatlas (Paris)SPG7
SOURCE (Princeton)SPG7
Genetics Home Reference (NIH)SPG7
Genomic and cartography
GoldenPath hg38 (UCSC)SPG7  -     chr16:89508403-89537721 +  16q24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SPG7  -     16q24.3   [Description]    (hg19-Feb_2009)
GoldenPathSPG7 - 16q24.3 [CytoView hg19]  SPG7 - 16q24.3 [CytoView hg38]
ImmunoBaseENSG00000197912
genome Data Viewer NCBISPG7 [Mapview hg19]  
OMIM602783   607259   
Gene and transcription
Genbank (Entrez)AF034795 AF090912 AK094627 AW250773 BC007692
RefSeq transcript (Entrez)NM_001363850 NM_003119 NM_199367
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SPG7
Alternative Splicing GalleryENSG00000197912
Gene ExpressionSPG7 [ NCBI-GEO ]   SPG7 [ EBI - ARRAY_EXPRESS ]   SPG7 [ SEEK ]   SPG7 [ MEM ]
Gene Expression Viewer (FireBrowse)SPG7 [ Firebrowse - Broad ]
GenevisibleExpression of SPG7 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6687
GTEX Portal (Tissue expression)SPG7
Human Protein AtlasENSG00000197912-SPG7 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UQ90   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UQ90  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UQ90
Splice isoforms : SwissVarQ9UQ90
Catalytic activity : Enzyme3.4.24.- [ Enzyme-Expasy ]   3.4.24.-3.4.24.- [ IntEnz-EBI ]   3.4.24.- [ BRENDA ]   3.4.24.- [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusQ9UQ90
Domains : Interpro (EBI)AAA+_ATPase    AAA_lid_3    ATPase_AAA_core    FtsH    P-loop_NTPase    Pept_M41_FtsH_extracell    Peptidase_M41    Peptidase_M41-like   
Domain families : Pfam (Sanger)AAA (PF00004)    AAA_lid_3 (PF17862)    FtsH_ext (PF06480)    Peptidase_M41 (PF01434)   
Domain families : Pfam (NCBI)pfam00004    pfam17862    pfam06480    pfam01434   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)SPG7
Blocks (Seattle)SPG7
PDB (RSDB)2QZ4   
PDB Europe2QZ4   
PDB (PDBSum)2QZ4   
PDB (IMB)2QZ4   
Structural Biology KnowledgeBase2QZ4   
SCOP (Structural Classification of Proteins)2QZ4   
CATH (Classification of proteins structures)2QZ4   
SuperfamilyQ9UQ90
Human Protein Atlas [tissue]ENSG00000197912-SPG7 [tissue]
Peptide AtlasQ9UQ90
HPRD04149
IPIIPI00299010   IPI00398508   IPI00982992   IPI00012864   IPI00006076   
Protein Interaction databases
DIP (DOE-UCLA)Q9UQ90
IntAct (EBI)Q9UQ90
BioGRIDSPG7
STRING (EMBL)SPG7
ZODIACSPG7
Ontologies - Pathways
QuickGOQ9UQ90
Ontology : AmiGOATP-dependent peptidase activity  metalloendopeptidase activity  protein binding  ATP binding  mitochondrion  mitochondrial inner membrane  mitochondrial inner membrane  mitochondrial inner membrane  mitochondrial permeability transition pore complex  proteolysis  mitochondrial calcium ion transmembrane transport  nervous system development  mitochondrial fusion  peptidase activity  zinc ion binding  mitochondrial protein processing  cristae formation  regulation of mitochondrial membrane permeability  unfolded protein binding  protein-containing complex assembly  mitochondrial outer membrane permeabilization involved in programmed cell death  
Ontology : EGO-EBIATP-dependent peptidase activity  metalloendopeptidase activity  protein binding  ATP binding  mitochondrion  mitochondrial inner membrane  mitochondrial inner membrane  mitochondrial inner membrane  mitochondrial permeability transition pore complex  proteolysis  mitochondrial calcium ion transmembrane transport  nervous system development  mitochondrial fusion  peptidase activity  zinc ion binding  mitochondrial protein processing  cristae formation  regulation of mitochondrial membrane permeability  unfolded protein binding  protein-containing complex assembly  mitochondrial outer membrane permeabilization involved in programmed cell death  
NDEx NetworkSPG7
Atlas of Cancer Signalling NetworkSPG7
Wikipedia pathwaysSPG7
Orthology - Evolution
OrthoDB6687
GeneTree (enSembl)ENSG00000197912
Phylogenetic Trees/Animal Genes : TreeFamSPG7
HOGENOMQ9UQ90
Homologs : HomoloGeneSPG7
Homology/Alignments : Family Browser (UCSC)SPG7
Gene fusions - Rearrangements
Fusion : MitelmanCHD9/SPG7 [16q12.2/16q24.3]  
Fusion : MitelmanKLHDC4/SPG7 [16q24.2/16q24.3]  
Fusion PortalCHD9 16q12.2 SPG7 16q24.3 BRCA
Fusion PortalKLHDC4 16q24.2 SPG7 16q24.3 BRCA
Fusion : QuiverSPG7
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPG7 [hg38]
dbVarSPG7
ClinVarSPG7
MonarchSPG7
1000_GenomesSPG7 
Exome Variant ServerSPG7
GNOMAD BrowserENSG00000197912
Varsome BrowserSPG7
Genomic Variants (DGV)SPG7 [DGVbeta]
DECIPHERSPG7 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSPG7 
Mutations
ICGC Data PortalSPG7 
TCGA Data PortalSPG7 
Broad Tumor PortalSPG7
OASIS PortalSPG7 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPG7  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSPG7
Mutations and Diseases : HGMDSPG7
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
Cancer3DSPG7(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602783    607259   
Orphanet14030   
DisGeNETSPG7
MedgenSPG7
Genetic Testing Registry SPG7
NextProtQ9UQ90 [Medical]
GENETestsSPG7
Target ValidationSPG7
Huge Navigator SPG7 [HugePedia]
ClinGenSPG7
Clinical trials, drugs, therapy
MyCancerGenomeSPG7
Protein Interactions : CTD
Pharm GKB GenePA36067
PharosQ9UQ90
Clinical trialSPG7
Miscellaneous
canSAR (ICR)SPG7 (select the gene name)
HarmonizomeSPG7
DataMed IndexSPG7
Probes
Litterature
PubMed75 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSPG7
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Mar 25 19:47:21 CET 2021
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