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SPG7 Gene

protein-coding   GIFtS: 61
GCID: GC16P089559

Spastic Paraplegia 7 (Pure And Complicated Autosomal Recessive)

(Previous name: cell matrix adhesion regulator)
(Previous symbol: CMAR)
  See SPG7-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Spastic Paraplegia 7 (Pure And Complicated Autosomal Recessive)1 2     Spastic Paraplegia 7 Protein2 3
CMAR1 2 3 5     SPG5C2
CAR2 3 5     Cell Adhesion Regulator2
PGN2 3 5     EC 3.4.24.-3
Cell Matrix Adhesion Regulator1 2     EC 3.4.248
paraplegin1 2     

External Ids:    HGNC: 112371   Entrez Gene: 66872   Ensembl: ENSG000001979127   OMIM: 6027835   UniProtKB: Q9UQ903   

Export aliases for SPG7 gene to outside databases

Previous GC identifers: GC16P080894 GC16P090562 GC16P089276 GC16P089318 GC16P088102 GC16P089574 GC16P075270


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SPG7 Gene:
This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this
protein family share an ATPase domain and have roles in diverse cellular processes including membrane
trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Mutations in this
gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been
identified. (provided by RefSeq, Mar 2014)

GeneCards Summary for SPG7 Gene:
SPG7 (spastic paraplegia 7 (pure and complicated autosomal recessive)) is a protein-coding gene. Diseases associated with SPG7 include paraplegia, and autosomal dominant optic atrophy and peripheral neuropathy. GO annotations related to this gene include peptidase activity and metalloendopeptidase activity.

UniProtKB/Swiss-Prot: SPG7_HUMAN, Q9UQ90
Function: Putative ATP-dependent zinc metalloprotease

Gene Wiki entry for SPG7 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NT_010498.16  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SPG7 gene promoter:
         C/EBPbeta   AP-1   ATF-2   c-Jun   NF-kappaB1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for SPG7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPG7


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q24.3   Ensembl cytogenetic band:  16q24.3   HGNC cytogenetic band: 16q24.3

SPG7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPG7 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P089559:  view genomic region     (about GC identifiers)

Start:
89,557,325 bp from pter      End:
89,624,176 bp from pter
Size:
66,852 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SPG7_HUMAN, Q9UQ90 (See protein sequence)
Recommended Name: Paraplegin  
Size: 795 amino acids; 88235 Da
Subunit: Interacts with AFG3L2; the interaction is required for the efficient assembly of mitochondrial complex I
Caution: A CDS in the 3'-UTR of SPG7 mRNA had been erroneously identified as a cell matrix adhesion regulator and
originally thought to be encoded by the CMAR gene. There is no experimental evidence for the production of
endogenous CMAR protein
Sequence caution: Sequence=AAH35929.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=BC007692; Type=Erroneous termination; Positions=428; Note=Translated as Glu;
1 PDB 3D structure from and Proteopedia for SPG7:
2QZ4 (3D)    
Secondary accessions: O75756 Q2TB70 Q58F00 Q96IB0
Alternative splicing: 2 isoforms:  Q9UQ90-1   Q9UQ90-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SPG7: NX_Q9UQ90

Explore proteomics data for SPG7 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for SPG7 (Q9UQ90)
     TPGFSGA  TLNQLLVE  GAQDDLRKVT 


    See SPG7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_003110.1  NP_955399.1  

    ENSEMBL proteins: 
     ENSP00000454475   ENSP00000268704   ENSP00000341157   ENSP00000457719   ENSP00000454805  
     ENSP00000457298   ENSP00000457387   ENSP00000461979  

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    Novus Biologicals SPG7 Lysates
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SPG7

     
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    antibodies-online proteins for SPG7 (4 products) 

     
    antibodies-online peptides for SPG7

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    AATP: ATPases / AAA-type

    Selected InterPro protein domains (see all 6):
     IPR003959 ATPase_AAA_core
     IPR000642 Peptidase_M41
     IPR027417 P-loop_NTPase
     IPR005936 FtsH
     IPR003593 AAA+_ATPase

    Graphical View of Domain Structure for InterPro Entry Q9UQ90

    ProtoNet protein and cluster: Q9UQ90

    1 Blocks protein domain: IPB000642 Peptidase M41

    UniProtKB/Swiss-Prot: SPG7_HUMAN, Q9UQ90
    Similarity: In the N-terminal section; belongs to the AAA ATPase family
    Similarity: In the C-terminal section; belongs to the peptidase M41 family


    Find genes that share domains with SPG7           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SPG7_HUMAN, Q9UQ90
    Function: Putative ATP-dependent zinc metalloprotease

         Genatlas biochemistry entry for SPG7:
    paraplegin,nuclear-encoded mitochondrial metalloprotease with homology to yeast AFG3 of the AAA family (adenosine
    triphosphatases associated with diverse activities),potentially involved in the turnover of mitochondrial
    proteins,expressed in central nervous system,specifically in amygdalia,caudate nucleus,thalamus subthalmic
    nucleus and spinal cord

         Enzyme Numbers (IUBMB): EC 3.4.24.-1 EC 3.4.242

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0004222metalloendopeptidase activity IDA11549317
    GO:0005515protein binding IPI14623864
    GO:0005524ATP binding IEA--
    GO:0008233peptidase activity TAS9635427
         
    Find genes that share ontologies with SPG7           About GenesLikeMe


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Spg7):
     behavior/neurological  growth/size/body  nervous system  skeleton 

    Find genes that share phenotypes with SPG7           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Spg7tm1Eir for SPG7

       genOway: Develop your customized and physiologically relevant rodent model for SPG7

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    hsa-miR-1179
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    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SPG7_HUMAN, Q9UQ90: Mitochondrion membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    extracellular2
    nucleus2
    cytoskeleton1
    cytosol1
    endoplasmic reticulum1
    golgi apparatus1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion TAS9635427
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0031966mitochondrial membrane IEA--

    Find genes that share ontologies with SPG7           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Array including SPG7: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SPG7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SPG7 (Q9UQ902, 3 ENSP000002687044) via UniProtKB, MINT, STRING, and/or I2D (see all 54)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAPK6Q166592, 3MINT-8262033 I2D: score=2 
    KRTAP4-12Q9BQ663, ENSP000003775824I2D: score=4 STRING: ENSP00000377582
    PLSCR1O151623, ENSP000003454944I2D: score=4 STRING: ENSP00000345494
    ELF3P785453, ENSP000003526734I2D: score=1 STRING: ENSP00000352673
    MDFIQ997503, ENSP000002303214I2D: score=4 STRING: ENSP00000230321
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis TAS9635427
    GO:0007005mitochondrion organization IEA--
    GO:0007399nervous system development TAS9635427
    GO:0008089anterograde axon cargo transport IEA--
    GO:0008219cell death IEA--

    Find genes that share ontologies with SPG7           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SPG7

    7 Novoseek inferred chemical compound relationships for SPG7 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 32.2 58 15284356 (7), 17124506 (6), 11134112 (6), 14743430 (4) (see all 14)
    cystine 30.8 1 10092845 (1)
    lysine 2.57 2 9761476 (1), 10625440 (1)
    vitamin d 2.55 1 12469911 (1)
    zinc 0 3 11549317 (2), 11579422 (1)
    glutamate 0 3 14743430 (2), 17266540 (1)
    creatinine 0 1 11134112 (1)

    2 PharmGKB related drug/compound annotations for SPG7 gene    About this table
    Drug/compound PharmGKB Annotation
    docetaxelCA  
    thalidomideCA  



    Find genes that share compounds with SPG7           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SPG7 gene (2 alternative transcripts): 
    NM_003119.3  NM_199367.2  

    Unigene Cluster for SPG7:

    Spastic paraplegia 7 (pure and complicated autosomal recessive)
    Hs.185597  [show with all ESTs]
    Unigene Representative Sequence: NM_003119
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000563783 ENST00000568509 ENST00000566371 ENST00000268704(uc002fnj.3)
    ENST00000341316(uc002fni.3) ENST00000569363 ENST00000568151 ENST00000562775
    ENST00000564047 ENST00000564409 ENST00000561945 ENST00000567138 ENST00000563218
    ENST00000569820(uc002fnk.1) ENST00000566221 ENST00000561911 ENST00000565370
    ENST00000561702(uc002fnl.3)
    miRNA
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    hsa-miR-1179
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      QuantiFast Probe-based Assays in human, mouse, rat SPG7

    Additional mRNA sequence: 

    BC007692.1 BC015411.1 BC035929.2 BC036104.1 BC052587.1 BC110530.2 BC110531.2 S54769.1 
    Y16610.1 Z35498.1 

    Selected DOTS entries (see all 25):

    DT.100759538  DT.447986  DT.100759539  DT.91938321  DT.91975123  DT.100759534  DT.70102524  DT.100676206 
    DT.216917  DT.91652370  DT.95086034  DT.120703866  DT.99968114  DT.120703865  DT.91767325  DT.91855020 
    DT.95209205  DT.95364929  DT.447987  DT.91730775  DT.97801465  DT.97822078  DT.40132700  DT.95089886 

    14 AceView cDNA sequences:

    S54769 NM_199367 CR609511 Y16610 BC036104 NM_003119 BC035929 BC015411 
    BC052587 AF090912 AK094627 BC007692 AF034795 Z35498 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SPG7 (see all 18)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b · 14c ^ 15 ^ 16 ^
    SP1:              -                 -                             -                                         -     -     -     -     -                 -     -   
    SP2:              -                 -                             -                                                                                             
    SP3:                                                                                                                                -                           
    SP4:                                                                                                                                                  -     -   
    SP5:                                                                                                                                                            

    ExUns: 17a · 17b ^ 18a · 18b · 18c ^ 19a · 19b ^ 20a · 20b · 20c · 20d ^ 21a · 21b · 21c ^ 22a · 22b · 22c · 22d ^ 23a · 23b · 23c ^ 24 ^ 25a · 25b · 25c · 25d
    SP1:                          -     -     -     -                                         -     -                             -     -                           
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                          -     -           -                                                                                                               
    SP5:                          -     -     -     -                                         -                                                                     


    ECgene alternative splicing isoforms for SPG7

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SPG7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGTGTTGGG
    SPG7 Expression
    About this image

    SPG7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPG7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.185597

    UniProtKB/Swiss-Prot: SPG7_HUMAN, Q9UQ90
    Tissue specificity: Ubiquitous

        Pathway & Disease-focused RT2 Profiler PCR Array including SPG7: 
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPG7

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SPG7 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spg71 , 5 spastic paraplegia 7 homolog (human)1, 5 85.13(n)1
    89.92(a)1
      8 (72.04 cM)5
    2348471  NM_153176.41  NP_694816.31 
     1230629425 
    chicken
    (Gallus gallus)
    Aves SPG71 spastic paraplegia 7 (pure and complicated autosomal more 71.96(n)
    73.6(a)
      415843  NM_001012527.1  NP_001012545.1 
    lizard
    (Anolis carolinensis)
    Reptilia SPG76
    spastic paraplegia 7 (pure and complicated autosom...
    73(a)
    1 ↔ 1
    GL343487.1(417208-440190)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.96292 Xenopus laevis transcribed sequence with moderate similarity more 78.02(n)    CF285735.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufd15f082 Transcribed sequence with moderate similarity to protein more 78.54(n)    CK399026.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta EG:100G10.73
    CG26581
    proteolysis and peptidolysis
    metallopeptidase3
    CG26581
    57(a)3
    59.62(n)1
    60.31(a)1
      1 3B33
    312531  NM_130661.11  NP_570017.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y38F2AR.73
    ppgn-11
    ppgn-11 60(a)
    (best of 2)3
    53.81(n)1
    53.59(a)1
      IV(2333973-2342702)3
    1770211  NM_067790.51  NP_500191.31 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AFG36
    Component, with Yta12p, of the mitochondrial inner...
    38(a)
    1 ↔ 1
    V(189503-191788) YER017C


    ENSEMBL Gene Tree for SPG7 (if available)
    TreeFam Gene Tree for SPG7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SPG7 gene
    17 SIMAP similar genes for SPG7 using alignment to 7 protein entries:     SPG7_HUMAN (see all proteins):
    EIF3G    PFKFB3    LSM12    CDK10    FLJ00047    AFG3L2
    CEP95    YME1L1    FTSH    IRF2    PSMC5    PSMC2
    PSMC3    PSMC1    PSMC4    PSMC6    NDC80

    Find genes that share paralogs with SPG7           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SPG7 (see all 1745)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1416596201,2,,4
    C,FSpastic paraplegia 7, autosomal recessive (SPG7)4 pathogenic190597503(+) TGCTCG/AGCCCC 4 /S /G mis12Minor allele frequency- A:0.00NA EU 5675
    rs617553201,2,,4
    C,FSpastic paraplegia 7, autosomal recessive (SPG7)4 --90612310(+) TCTGGC/TAGAGC 2 A V mis14Minor allele frequency- T:0.00NA EU 6183
    VAR_0636124
    Spastic paraplegia 7, autosomal recessive (SPG7)4--see VAR_0636122 W C mis40--------
    VAR_0458984
    Spastic paraplegia 7, autosomal recessive (SPG7)4--see VAR_0458982 S T mis40--------
    rs1219183581,2
    Cpathogenic190576076(+) CGGATA/TGTTGT 4 * L stg10--------
    rs133395461,2
    C,F--89573230(+) AGGGCG/AGGGAG 2 -- us2k1 trp35Minor allele frequency- A:0.33NA CSA 9
    rs800342951,2
    C,F--89573244(+) GAGGGG/TGAGGG 2 -- us2k11Minor allele frequency- T:0.10WA 118
    rs1506239421,2
    C--89573252(+) GGGCAC/TCGCGC 2 -- us2k10--------
    rs58187221,2
    C--89576880(+) TATTGT/-TTTTT 2 -- int1 trp31Minor allele frequency- -:0.00NA 2
    rs1413285931,2
    C--89578320(+) TGTTG-/TTTAA 
            
    GTTTA
    2 -- int10--------

    HapMap Linkage Disequilibrium report for SPG7 (89557325 - 89624176 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SPG7 (see all 17):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2715167CNV Deletion23290073
    esv2715168CNV Deletion23290073
    esv2715166CNV Deletion23290073
    esv1246626CNV Deletion17803354
    nsv509639CNV Insertion20534489
    dgv3010n71CNV Loss21882294
    dgv3009n71CNV Loss21882294
    nsv907357CNV Loss21882294
    nsv907404CNV Loss21882294
    dgv3008n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): SPG7
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SPG7
    DNA2.0 Custom Variant and Variant Library Synthesis for SPG7

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602783   
    OMIM disorders: 607259  
    UniProtKB/Swiss-Prot: SPG7_HUMAN, Q9UQ90
  • Spastic paraplegia 7, autosomal recessive (SPG7) [MIM:607259]: A form of spastic paraplegia, a
    neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower
    limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include
    difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking.
    In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness
    may spread to other parts of the body. SPG7 is a complex form. Additional clinical features are cerebellar
    syndrome, supranuclear palsy, and cognitive impairment, particularly disturbance of attention and executive
    functions. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Note=Defects in SPG7 may cause autosomal recessive osteogenesis imperfecta (OI). Osteogenesis imperfecta
    defines a group of connective tissue disorders characterized by bone fragility and low bone mass. Clinical
    features of SPG7-related osteogenesis imperfecta include recurrent fractures, mild bone deformities, delayed
    tooth eruption, normal hearing and white sclera

  • 12 diseases for SPG7:    
    About MalaCards
    paraplegia    autosomal dominant optic atrophy and peripheral neuropathy    spastic paraplegia 7, autosomal recessive    spastic paraplegia 7
    spinocerebellar ataxia type 28    familial hypocalciuric hypercalcemia    loeys-dietz syndrome    hereditary ataxia
    optic atrophy    hereditary spastic paraplegia    blau syndrome    spasticity

    5 diseases from the University of Copenhagen DISEASES database for SPG7:
    Paraplegia     Glomerulonephritis     Nephrotic syndrome     Optic atrophy
    Blau syndrome

    Find genes that share disorders with SPG7           About GenesLikeMe

    Selected Novoseek inferred disease relationships for SPG7 gene (see all 16)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    spastic paraplegia hereditary 94.9 17 18200586 (2), 16534102 (2), 19841671 (1), 11377972 (1) (see all 13)
    spastic paraplegia hereditary autosomal recessive 89.4 3 16534102 (1), 14985266 (1)
    spastic paraplegia 79.3 7 11549317 (1), 18563470 (1), 20208537 (1), 14985266 (1) (see all 6)
    neurodegenerative diseases 63.6 2 19625515 (1), 10480368 (1)
    hypoparathyroidism 55.4 7 9380434 (2), 9253358 (2), 19063686 (1), 11134112 (1)
    hyperparathyroidism secondary 53.9 2 18782015 (1)
    hypercalciuria 49.9 2 11134112 (2)
    hypocalcemia 26.1 4 11134112 (4)
    hypercalcemia 17.4 1 12469911 (1)
    osteoporosis 7.55 3 15978932 (2), 18782015 (1)

    Genatlas disease: SPG7
    spastic paraplegia 7,pure and complicated forms,autosomal recessive,characterized by optic,cortical and
    cerebellar atrophy,associated with a defect in oxidative phosphorylation,late onset

    GeneTests: SPG7
    GeneReviews: SPG7
    Genetic Association Database (GAD): SPG7
    Human Genome Epidemiology (HuGE) Navigator: SPG7 (4 documents)

    Export disorders for SPG7 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SPG7 gene, integrated from 10 sources (see all 104):
    (articles sorted by number of sources associating them with SPG7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. (PubMed id 9635427)1, 2, 3, 9 Casari G.... Ballabio A. (Cell 1998)
    2. Functional evaluation of paraplegin mutations by a yeast complementation assay. (PubMed id 20186691)1, 2, 9 Bonn F.... Mannan A.U. (Hum. Mutat. 2010)
    3. Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. (PubMed id 16534102)1, 2, 9 Elleuch N.... Brice A. (Neurology 2006)
    4. Genomic structure and expression analysis of the spastic paraplegia gene, SPG7. (PubMed id 10480368)1, 2, 9 Settasatian C.... Callen D.F. (Hum. Genet. 1999)
    5. Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes. (PubMed id 18799786)1, 4, 9 Brugman F....van den Berg L.H. (Neurology 2008)
    6. Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. (PubMed id 14623864)1, 2, 9 Atorino L.... Casari G. (J. Cell Biol. 2003)
    7. Crystal structure of the ATPase domain of the human AAA+ protein paraplegin/SPG7. (PubMed id 19841671)1, 2, 9 Karlberg T.... Schuler H. (PLoS ONE 2009)
    8. The role of hereditary spastic paraplegia related genes in multiple sclerosis. A study of disease susceptibility and clinical outcome. (PubMed id 17420921)1, 4, 9 DeLuca G.C....Ebers G.C. (J. Neurol. 2007)
    9. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    10. Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta. (PubMed id 20579626)1, 2 Lapunzina P....Ruiz-Perez V.L. (Am. J. Hum. Genet. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6687 HGNC: 11237 AceView: SPG7 Ensembl:ENSG00000197912 euGenes: HUgn6687
    ECgene: SPG7 H-InvDB: SPG7

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SPG7 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SPG7 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SPG7[genesymbol]
    Osteogenesis imperfecta variant databasehttp://oi.gene.le.ac.uk/home.php?select_db=SP7

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SPG7 gene:
    Search GeneIP for patents involving SPG7

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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