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Aliases for SPG7 Gene

Aliases for SPG7 Gene

  • Spastic Paraplegia 7 (Pure And Complicated Autosomal Recessive) 2 3
  • Cell Matrix Adhesion Regulator 2 3
  • Spastic Paraplegia 7 Protein 3 4
  • Paraplegin 2 3
  • CMAR 3 4
  • CAR 3 4
  • PGN 3 4
  • EC 3.4.24.- 4
  • EC 3.4.24 63
  • SPG5C 3

External Ids for SPG7 Gene

Previous HGNC Symbols for SPG7 Gene

  • CMAR

Previous GeneCards Identifiers for SPG7 Gene

  • GC16P080894
  • GC16P090562
  • GC16P089276
  • GC16P089318
  • GC16P088102
  • GC16P089574
  • GC16P075270
  • GC16P089559

Summaries for SPG7 Gene

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 autosomal dominant optic atrophy and peripheral neuropathy and spastic paraplegia 7, autosomal recessive. GO annotations related to this gene include ATPase activity and metalloendopeptidase activity.

UniProtKB/Swiss-Prot for SPG7 Gene

  • Putative ATP-dependent zinc metalloprotease

Gene Wiki entry for SPG7 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPG7 Gene

Genomics for SPG7 Gene

Regulatory Elements for SPG7 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SPG7 Gene

Chromosome:
16
Start:
89,490,917 bp from pter
End:
89,557,768 bp from pter
Size:
66,852 bases
Orientation:
Plus strand

Genomic View for SPG7 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SPG7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPG7 Gene

Proteins for SPG7 Gene

  • Protein details for SPG7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UQ90-SPG7_HUMAN
    Recommended name:
    Paraplegin
    Protein Accession:
    Q9UQ90
    Secondary Accessions:
    • O75756
    • Q2TB70
    • Q58F00
    • Q96IB0

    Protein attributes for SPG7 Gene

    Size:
    795 amino acids
    Molecular mass:
    88235 Da
    Quaternary structure:
    • Interacts with AFG3L2; the interaction is required for the efficient assembly of mitochondrial complex I.
    SequenceCaution:
    • Sequence=AAH35929.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BC007692; Type=Erroneous termination; Positions=428; Note=Translated as Glu.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SPG7 Gene

    Alternative splice isoforms for SPG7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPG7 Gene

Proteomics data for SPG7 Gene at MOPED

Selected DME Specific Peptides for SPG7 Gene

Post-translational modifications for SPG7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for SPG7 Gene

Protein Domains for SPG7 Gene

Suggested Antigen Peptide Sequences for SPG7 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UQ90

UniProtKB/Swiss-Prot:

SPG7_HUMAN :
  • In the N-terminal section; belongs to the AAA ATPase family.
Family:
  • In the N-terminal section; belongs to the AAA ATPase family.
  • In the C-terminal section; belongs to the peptidase M41 family.
genes like me logo Genes that share domains with SPG7: view

Function for SPG7 Gene

Molecular function for SPG7 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot Function:
Putative ATP-dependent zinc metalloprotease

Enzyme Numbers (IUBMB) for SPG7 Gene

Gene Ontology (GO) - Molecular Function for SPG7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IDA 11549317
GO:0005515 protein binding IPI 14623864
GO:0005524 ATP binding IEA --
GO:0008233 peptidase activity TAS 9635427
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with SPG7: view
genes like me logo Genes that share phenotypes with SPG7: view

Animal Models for SPG7 Gene

MGI Knock Outs for SPG7:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SPG7

In Situ Assay Products

Flow Cytometry Products

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for SPG7 Gene

Localization for SPG7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPG7 Gene

Mitochondrion membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SPG7 Gene COMPARTMENTS Subcellular localization image for SPG7 gene
Compartment Confidence
mitochondrion 4
extracellular 2
nucleus 2
cytoskeleton 1
cytosol 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for SPG7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS 9635427
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
GO:0031966 mitochondrial membrane IEA --
genes like me logo Genes that share ontologies with SPG7: view

Pathways & Interactions for SPG7 Gene

SuperPathways for SPG7 Gene

No Data Available

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Extracellular Matrix & Adhesion Molecules in human,mouse,rat

Gene Ontology (GO) - Biological Process for SPG7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0007005 mitochondrion organization IEA --
GO:0007399 nervous system development TAS 9635427
GO:0008089 anterograde axon cargo transport IEA --
genes like me logo Genes that share ontologies with SPG7: view

No data available for Pathways by source and SIGNOR curated interactions for SPG7 Gene

Drugs & Compounds for SPG7 Gene

(6) Drugs for SPG7 Gene - From: NovoSeek and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Docetaxel Approved May 1996, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes 1792
Thalidomide Approved, Investigational, Withdrawn Pharma Immunomodulatory agent,sedative drug,angiogenesis inhibitor, Immunomodulatory agents, TNF-alpha synthesis inhibitor 776
Zinc Approved Pharma 1404
vitamin d Pharma 1463
Calcium Nutra 0

(3) Additional Compounds for SPG7 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Creatinine
  • 1-Methylglycocyamidine
  • 1-Methylhydantoin-2-imide
  • 2-Amino-1-methyl-1,5-dihydroimidazol-4-one
  • 2-Amino-1-methylimidazolin-4-one
  • Creatine anhydride
60-27-5
cystine
glutamate
genes like me logo Genes that share compounds with SPG7: view

Transcripts for SPG7 Gene

mRNA/cDNA for SPG7 Gene

Unigene Clusters for SPG7 Gene

Spastic paraplegia 7 (pure and complicated autosomal recessive):
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SPG7

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPG7 Gene

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:
SP6:
SP7:
SP8:
SP9: - - -
SP10: -
SP11: - -
SP12: -
SP13: -
SP14: - -
SP15:
SP16:
SP17: -
SP18:

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: - - - - -
SP6: - - - -
SP7: - - - -
SP8: - - -
SP9:
SP10:
SP11: - - - -
SP12:
SP13:
SP14:
SP15: - -
SP16: - -
SP17:
SP18:

Relevant External Links for SPG7 Gene

GeneLoc Exon Structure for
SPG7
ECgene alternative splicing isoforms for
SPG7

Expression for SPG7 Gene

mRNA expression in normal human tissues for SPG7 Gene

Protein differential expression in normal tissues from HIPED for SPG7 Gene

This gene is overexpressed in Plasma (12.7) and Peripheral blood mononuclear cells (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SPG7 Gene



SOURCE GeneReport for Unigene cluster for SPG7 Gene Hs.185597

mRNA Expression by UniProt/SwissProt for SPG7 Gene

Q9UQ90-SPG7_HUMAN
Tissue specificity: Ubiquitous
genes like me logo Genes that share expression patterns with SPG7: view

Protein tissue co-expression partners for SPG7 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SPG7 Gene

Orthologs for SPG7 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SPG7 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SPG7 35
  • 86.72 (n)
  • 89.11 (a)
SPG7 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPG7 35
  • 85.13 (n)
  • 89.49 (a)
SPG7 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Spg7 35
  • 85.13 (n)
  • 89.92 (a)
Spg7 16
Spg7 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SPG7 35
  • 97.7 (n)
  • 97.34 (a)
SPG7 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Spg7 35
  • 84.98 (n)
  • 89.27 (a)
oppossum
(Monodelphis domestica)
Mammalia SPG7 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPG7 36
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPG7 35
  • 71.96 (n)
  • 73.6 (a)
SPG7 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPG7 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spg7 35
  • 73.07 (n)
  • 81.22 (a)
Str.4154 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.9629 35
zebrafish
(Danio rerio)
Actinopterygii spg7 35
  • 73 (n)
  • 80.59 (a)
wufd15f08 35
spg7 36
  • 74 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9013 35
fruit fly
(Drosophila melanogaster)
Insecta EG:100G10.7 37
  • 57 (a)
CG2658 35
  • 59.62 (n)
  • 60.31 (a)
CG2658 36
  • 47 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000560 35
  • 59.97 (n)
  • 56.21 (a)
worm
(Caenorhabditis elegans)
Secernentea Y38F2AR.7 37
  • 60 (a)
Y47C4A.1 37
  • 60 (a)
ppgn-1 35
  • 53.81 (n)
  • 53.59 (a)
ppgn-1 36
  • 45 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AFG3 36
  • 38 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 57 (a)
OneToOne
Species with no ortholog for SPG7:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SPG7 Gene

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

Paralogs for SPG7 Gene

genes like me logo Genes that share paralogs with SPG7: view

No data available for Paralogs for SPG7 Gene

Variants for SPG7 Gene

Sequence variations from dbSNP and Humsavar for SPG7 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs4188 -- 89,557,585(-) CCTGA(A/C/G/T)TGGCC utr-variant-3-prime
rs12960 Likely benign, - 89,553,920(+) CGGGC(A/G)GCGCC missense, reference
rs185422 -- 89,555,009(-) gaacc(C/T)gggag intron-variant
rs258339 -- 89,555,040(-) tactc(A/G)ggagg intron-variant
rs364339 -- 89,541,100(-) TTCTG(C/T)GTACA intron-variant, utr-variant-3-prime, synonymous-codon, reference

Structural Variations from Database of Genomic Variants (DGV) for SPG7 Gene

Variant ID Type Subtype PubMed ID
nsv907357 CNV Loss 21882294
nsv428331 CNV Gain+Loss 18775914
dgv922e1 CNV Complex 17122850
nsv471118 CNV Gain 18288195
nsv907402 CNV Loss 21882294
nsv907403 CNV Loss 21882294
nsv907404 CNV Loss 21882294
nsv907405 CNV Loss 21882294
dgv3008n71 CNV Loss 21882294
dgv3009n71 CNV Loss 21882294
nsv509639 CNV Insertion 20534489
esv2715166 CNV Deletion 23290073
dgv3010n71 CNV Loss 21882294
dgv3011n71 CNV Loss 21882294
esv2715167 CNV Deletion 23290073
esv1246626 CNV Deletion 17803354
esv2715168 CNV Deletion 23290073

Variation tolerance for SPG7 Gene

Residual Variation Intolerance Score: 10.53% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.54; 86.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPG7 Gene

HapMap Linkage Disequilibrium report
SPG7
Human Gene Mutation Database (HGMD)
SPG7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPG7 Gene

Disorders for SPG7 Gene

MalaCards: The human disease database

(15) MalaCards diseases for SPG7 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
autosomal dominant optic atrophy and peripheral neuropathy
spastic paraplegia 7, autosomal recessive
  • spg7
spastic paraplegia 7
  • spastic paraplegia 7, autosomal recessive
paraplegia
  • paraplegia, lower
orthostatic proteinuria
  • postural albuminuria
- elite association
Search SPG7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SPG7_HUMAN
  • 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.
  • 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. {ECO:0000269 PubMed:16534102, ECO:0000269 PubMed:17646629, ECO:0000269 PubMed:20186691, ECO:0000269 PubMed:9635427}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for SPG7 Gene

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

Relevant External Links for SPG7

Genetic Association Database (GAD)
SPG7
Human Genome Epidemiology (HuGE) Navigator
SPG7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPG7
genes like me logo Genes that share disorders with SPG7: view

Publications for SPG7 Gene

  1. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. (PMID: 9635427) Casari G. … Ballabio A. (Cell 1998) 2 23 67
  2. Functional evaluation of paraplegin mutations by a yeast complementation assay. (PMID: 20186691) Bonn F. … Mannan A.U. (Hum. Mutat. 2010) 23 67
  3. A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects. (PMID: 20108356) Warnecke T. … Young P. (Mov. Disord. 2010) 23 67
  4. Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. (PMID: 20208537) Di Bella D. … Taroni F. (Nat. Genet. 2010) 23 67
  5. Regulation of OPA1 processing and mitochondrial fusion by m-AAA protease isoenzymes and OMA1. (PMID: 20038678) Ehses S. … Langer T. (J. Cell Biol. 2009) 23 67

Products for SPG7 Gene

Sources for SPG7 Gene

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