SPG7 Gene (Protein Coding)

SPG7 Matrix AAA Peptidase Subunit, Paraplegin

GC16P089492
GIFtS:
43
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 ... See more...

Aliases for SPG7 Gene

Aliases for SPG7 Gene

  • SPG7 Matrix AAA Peptidase Subunit, Paraplegin 2 3 5
  • Cell Matrix Adhesion Regulator 2 3 4
  • Paraplegin 2 3 4
  • CAR 2 3 4
  • Spastic Paraplegia 7 (Pure And Complicated Autosomal Recessive) 2 3
  • Spastic Paraplegia 7 Protein 3 4
  • SPG5C 2 3
  • CMAR 3 4
  • PGN 3 4
  • SPG7, Paraplegin Matrix AAA Peptidase Subunit 3
  • EC 3.4.24.- 4
  • EC 3.4.24 51
  • SPG7 5

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 (SPG7 Matrix AAA Peptidase Subunit, Paraplegin) is a Protein Coding gene. Diseases associated with SPG7 include Spastic Paraplegia 7, Autosomal Recessive and Hereditary Spastic Paraplegia. Gene Ontology (GO) annotations related to this gene include ATPase activity and metalloendopeptidase activity. An important paralog of this gene is AFG3L2.

UniProtKB/Swiss-Prot Summary for SPG7 Gene

  • ATP-dependent zinc metalloprotease. Plays a role in the formation and regulation of the mitochondrial permeability transition pore (mPTP) and its proteolytic activity is dispensable for this function (PubMed:26387735).

Gene Wiki entry for SPG7 Gene

Additional gene information for SPG7 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SPG7 Gene

Genomics for SPG7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SPG7 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH16J089503 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 635 +16.3 16348 6.3 ZNF221 CREB1 GATAD2A ZBTB33 HNRNPL ATF7 PRDM10 ZNF629 TFE3 LEF1 SPG7 ENSG00000261118 NONHSAG020345.2 AFG3L1P MC1R ZC3H18 ENSG00000268218 ANKRD11 TCF25 ENSG00000259877
GH16J089480 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 27.8 -4.0 -3965 12 CEBPG SP1 CREB1 GATAD2A TEAD4 PRDM10 ZNF629 REST TFE3 NFKBIZ ANKRD11 SPG7 AFG3L1P MC1R ENSG00000259877 RPL13 TCF25 ZNF778 RNU6-430P SNORD68
GH16J089558 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 23.9 +71.9 71912 7.9 SP1 HNRNPL CREB1 GATAD2A CTCF PRDM10 ZNF629 TFE3 ZNF512 SOX13 RPL13 SNORD68 NONHSAG020350.2-001 NONHSAG020350.2-002 piR-31703 AFG3L1P ENSG00000268218 ANKRD11 ENSG00000261118 ACSF3
GH16J088502 Enhancer 1.7 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 33 -983.8 -983818 9.4 HNRNPL GATAD2A PRDM10 ZNF629 TFE3 SOX13 IKZF1 NFKBIZ CTCF ZNF692 ENSG00000259877 ANKRD11 ENSG00000268218 ZC3H18 SPG7 LOC105371414 GALNS ACSF3 BANP ENSG00000260121
GH16J089824 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 16.2 +337.3 337347 5.7 HNRNPL CREB1 GATAD2A PRDM10 REST TFE3 IKZF1 NFKBIZ ZNF692 RCOR2 SPIRE2 CDK10 AFG3L1P MC1R ENSG00000261118 ENSG00000268218 FANCA ACSF3 SPG7 TCF25
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPG7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SPG7

Top Transcription factor binding sites by QIAGEN in the SPG7 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • C/EBPbeta
  • NF-kappaB1

Genomic Locations for SPG7 Gene

Genomic Locations for SPG7 Gene
chr16:89,490,719-89,557,768
(GRCh38/hg38)
Size:
67,050 bases
Orientation:
Plus strand
chr16:89,557,325-89,624,176
(GRCh37/hg19)
Size:
66,852 bases
Orientation:
Plus strand

Genomic View for SPG7 Gene

Genes around SPG7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPG7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPG7 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SPG7 Gene

Proteins for SPG7 Gene

Products:

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  • 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
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Forms heterooligomers with AFG3L1 and AFG3L2 (By similarity). Component of the mitochondrial permeability transition pore complex (mPTPC), at least composed of SPG7, VDAC1 and PPIF (PubMed:26387735). Interacts with AFG3L2; the interaction is required for the efficient assembly of mitochondrial complex I (PubMed:14623864, PubMed:26387735). Interacts with AFG3L1 (By similarity). Interacts with MAIP1 (PubMed:27499296). Interacts with VDAC1 and PPIF (PubMed:26387735).
    SequenceCaution:
    • Sequence=AAH35929.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BC007692; Type=Erroneous termination; Note=Truncated C-terminus.; 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

Protein Expression for SPG7 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for SPG7 Gene

Q9UQ90:
  • TLNQLLVE
  • GAQDDLRKVT
  • TPGFSGA

Post-translational modifications for SPG7 Gene

  • Upon import into the mitochondrion, the N-terminal transit peptide is cleaved by the mitochondrial-processing peptidase (MPP) to generate an intermediate form which undergoes a second proteolytic cleavage mediated by proteases AFG3L1 and/or AFG3L2 removing an additional N-terminal fragment to generate the proteolytically active mature form.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SPG7 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for SPG7 Gene

Gene Families for SPG7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for SPG7 Gene

InterPro:
Blocks:
  • Peptidase M41
ProtoNet:

Suggested Antigen Peptide Sequences for SPG7 Gene

GenScript: Design optimal peptide antigens:
  • Cell matrix adhesion regulator variant (O43535_HUMAN)
  • Cellular adhesion regulatory molecule (Q16161_HUMAN)
  • Spastic paraplegia 7 protein (SPG7_HUMAN)

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

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  2. CRISPR
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  6. Cell Line

Molecular function for SPG7 Gene

UniProtKB/Swiss-Prot Function:
ATP-dependent zinc metalloprotease. Plays a role in the formation and regulation of the mitochondrial permeability transition pore (mPTP) and its proteolytic activity is dispensable for this function (PubMed:26387735).
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

Enzyme Numbers (IUBMB) for SPG7 Gene

Phenotypes From GWAS Catalog for SPG7 Gene

Gene Ontology (GO) - Molecular Function for SPG7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004222 metalloendopeptidase activity IEA,IDA --
GO:0005515 protein binding IPI 14623864
GO:0005524 ATP binding IEA --
GO:0008233 peptidase activity TAS 9635427
genes like me logo Genes that share ontologies with SPG7: view
genes like me logo Genes that share phenotypes with SPG7: view

Human Phenotype Ontology for SPG7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SPG7 Gene

MGI Knock Outs for SPG7:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPG7

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

Localization for SPG7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPG7 Gene

Mitochondrion inner membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SPG7 gene
Compartment Confidence
mitochondrion 5
plasma membrane 3
extracellular 3
cytosol 3
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
endosome 2
lysosome 2
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SPG7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS,IBA 21873635
GO:0005743 mitochondrial inner membrane TAS --
GO:0005745 m-AAA complex IEA --
GO:0005757 mitochondrial permeability transition pore complex IDA 26387735
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SPG7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SPG7 Gene

Pathways & Interactions for SPG7 Gene

PathCards logo

SuperPathways for SPG7 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SPG7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006851 mitochondrial calcium ion transmembrane transport TAS --
GO:0007005 mitochondrion organization IBA 21873635
GO:0007399 nervous system development TAS 9635427
GO:0008053 mitochondrial fusion IBA 21873635
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

Products:

  1. Drug

(9) Drugs for SPG7 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Docetaxel Approved, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes 2330
Thalidomide Approved, Investigational, Withdrawn Pharma Immunomodulatory agent,sedative drug,angiogenesis inhibitor, TNF-alpha synthesis inhibitor, Immunomodulatory agents 429
anthracyclines and related substances Pharma 0

(1) Additional Compounds for SPG7 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SPG7: view

Transcripts for SPG7 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
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mRNA/cDNA for SPG7 Gene

3 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
96 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPG7

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

Expression for SPG7 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SPG7 Gene

mRNA expression in normal human tissues for SPG7 Gene
mRNA expression by GTEx for SPG7 GenemRNA expression by BioGPS 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, MaxQB, and MOPED for SPG7 Gene



Protein tissue co-expression partners for SPG7 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SPG7

SOURCE GeneReport for Unigene cluster for SPG7 Gene:

Hs.185597

mRNA Expression by UniProt/SwissProt for SPG7 Gene:

Q9UQ90-SPG7_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for SPG7 Gene

  • Intestine(4.6)
  • Nervous system(4.4)
  • Lung(3.7)
  • Spleen(3.2)
  • Skin(3.1)
  • Lymph node(3)
  • Blood(2.9)
  • Kidney(2.9)
  • Muscle(2.9)
  • Heart(2.8)
  • Bone marrow(2.7)
  • Liver(2.6)
  • Stomach(2.5)
  • Eye(2.2)
  • Thyroid gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SPG7 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
  • mouth
  • pharynx
Thorax:
  • esophagus
  • lung
  • rib
  • rib cage
Abdomen:
  • stomach
Pelvis:
  • pelvis
  • prostate
  • urethra
  • urinary bladder
Limb:
  • foot
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with SPG7: view

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
Chimpanzee
(Pan troglodytes)
 Mammalia SPG7 30 31
  • 97.7 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia SPG7 31
  • 89 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia SPG7 30 31
  • 86.72 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Spg7 30 17 31
  • 85.13 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia SPG7 30 31
  • 85.13 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Spg7 30
  • 84.98 (n)
Oppossum
(Monodelphis domestica)
 Mammalia SPG7 31
  • 82 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves SPG7 30 31
  • 71.96 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia SPG7 31
  • 73 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia spg7 30
  • 73.07 (n)
Str.4154 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.9629 30
Zebrafish
(Danio rerio)
 Actinopterygii spg7 30 31
  • 73 (n)
 OneToOne
wufd15f08 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.9013 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP000560 30
  • 59.97 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta CG2658 30 31
  • 59.62 (n)
 OneToOne
EG:100G10.7 32
  • 57 (a)
Worm
(Caenorhabditis elegans)
 Secernentea Y47C4A.1 32
  • 60 (a)
Y38F2AR.7 32
  • 60 (a)
ppgn-1 30 31
  • 53.81 (n)
 OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes AFG3 31
  • 38 (a)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 57 (a)
 OneToOne
Species where no ortholog for SPG7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SPG7: view image

Paralogs for SPG7 Gene

Paralogs for SPG7 Gene

(17) SIMAP similar genes for SPG7 Gene using alignment to 7 proteins:

  • SPG7_HUMAN
  • H3BMP1_HUMAN
  • H3BNE4_HUMAN
  • H3BTR8_HUMAN
  • H3BTY6_HUMAN
  • H3BUN3_HUMAN
  • J3KRF6_HUMAN
genes like me logo Genes that share paralogs with SPG7: view

Variants for SPG7 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SPG7 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
215222 Uncertain Significance: Hereditary spastic paraplegia 7 89,531,964(+) C/T MISSENSE_VARIANT
625204 Likely Pathogenic: Intellectual disability; Spastic ataxia; Sensorimotor neuropathy 89,553,844(+) AAGC/A INFRAME_DELETION
639021 Uncertain Significance: Hereditary spastic paraplegia 7 89,508,578(+) A/G MISSENSE_VARIANT
644184 Uncertain Significance: Hereditary spastic paraplegia 7 89,553,816(+) G/T MISSENSE_VARIANT
644622 Uncertain Significance: Hereditary spastic paraplegia 7 89,544,732(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SPG7 Gene

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

Variant ID Type Subtype PubMed ID
esv1246626 CNV deletion 17803354
esv2715166 CNV deletion 23290073
esv2715167 CNV deletion 23290073
esv2715168 CNV deletion 23290073
esv2758670 CNV gain 17122850
esv3639584 CNV loss 21293372
esv3639585 CNV loss 21293372
esv3639586 CNV gain 21293372
esv3639587 CNV loss 21293372
esv3639588 CNV gain 21293372
nsv1063483 CNV gain 25217958
nsv1066382 CNV gain 25217958
nsv1150246 CNV insertion 26484159
nsv428331 CNV gain+loss 18775914
nsv471118 CNV gain 18288195
nsv477336 CNV novel sequence insertion 20440878
nsv482951 CNV loss 15286789
nsv509639 CNV insertion 20534489
nsv573738 CNV loss 21841781

Variation tolerance for SPG7 Gene

Residual Variation Intolerance Score: 10.5% 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)

Additional Variant Information for SPG7 Gene

Human Gene Mutation Database (HGMD)
SPG7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPG7

SNP Genotyping and Copy Number Assay Products

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

Disorders for SPG7 Gene

MalaCards: The human disease database

(62) MalaCards diseases for SPG7 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search SPG7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SPG7_HUMAN
  • 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:27217339, ECO:0000269 PubMed:9635427}. 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. {ECO:0000269 PubMed:20579626}.

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

Additional Disease Information for SPG7

Genetic Association Database
(GAD)
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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 3 4 23
  2. Functional evaluation of paraplegin mutations by a yeast complementation assay. (PMID: 20186691) Bonn F … Mannan AU (Human mutation 2010) 3 4 23
  3. Crystal structure of the ATPase domain of the human AAA+ protein paraplegin/SPG7. (PMID: 19841671) Karlberg T … Schüler H (PloS one 2009) 3 4 23
  4. Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes. (PMID: 18799786) Brugman F … van den Berg LH (Neurology 2008) 3 23 41
  5. The role of hereditary spastic paraplegia related genes in multiple sclerosis. A study of disease susceptibility and clinical outcome. (PMID: 17420921) DeLuca GC … Ebers GC (Journal of neurology 2007) 3 23 41

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