SPG7 Gene
protein-coding GIFtS: 60
GCID: GC16P089574
|
|
spastic paraplegia 7 (pure and complicated autosomal recessive)(Previous name: cell matrix adhesion regulator )
(Previous symbol: CMAR)
| |
Aliases
for SPG7 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Spastic Paraplegia 7 (Pure And Complicated Autosomal Recessive)1 2 | | Spastic Paraplegia 7 Protein2 3 | | CAR1 2 3 5 | | Cell Adhesion Regulator2 | | CMAR1 2 3 5 | | Paraplegin1 | | PGN2 3 5 | | EC 3.4.24.-3 | | SPG5C1 2 | | EC 3.4.248 | | Cell Matrix Adhesion Regulator1 2 | | |
Export aliases for SPG7 gene to outside databasesPrevious GC identifers: GC16P080894 GC16P090562 GC16P089276 GC16P089318 GC16P088102 GC16P075270 |
Summaries
for SPG7 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for SPG7:
This gene encodes a nuclear-encoded mitochondrial metalloprotease protein that is a member of the AAA (ATPasesassociated with a variety of cellular activities) protein family. Members of this protein family share an ATPasedomain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organellebiogenesis, protein folding, and proteolysis. Two transcript variants encoding distinct isoforms have been identifiedfor this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 7. (provided byRefSeq, Jul 2008)
UniProtKB/Swiss-Prot: SPG7_HUMAN, Q9UQ90Function: Putative ATP-dependent zinc metalloprotease
Gene Wiki entry for SPG7
|
Genomic Views
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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000016.9 NC_018927.1 NT_010542.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the SPG7 gene promoter:
C/EBPbeta AP-1 ATF-2 c-Jun NF-kappaB1
Other transcription factors
Search SABiosciences Chromatin IP Primers for SPG7
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 16q24.3SPG7 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 16 GeneLoc Exon Structure GeneLoc location for GC16P089574: 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 |
|
Proteins
for SPG7 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
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
Subcellular location: Mitochondrion membrane; Multi-pass membrane protein
Caution: A CDS in the 3'-UTR of SPG7 mRNA had been erroneously identified as a cell matrix adhesion regulator andoriginally thought to be encoded by the CMAR gene. There is no experimental evidence for the production of endogenousCMAR 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 Q96IB0Alternative splicing: 2 isoforms: Q9UQ90-1 Q9UQ90-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for SPG7: NX_Q9UQ90
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9UQ90
3 DME Specific Peptides for SPG7 (Q9UQ90)
SPG7 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_003110.1 NP_955399.1
ENSEMBL proteins: ENSP00000454475 ENSP00000268704 ENSP00000341157 ENSP00000457719 ENSP00000454805 ENSP00000457298 ENSP00000457387 ENSP00000461979
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
SPG7 for ontologies About GeneDecksing
SPG7 Antibody Products:
Assay Products for SPG7: |
Protein
Domains /
Families
for SPG7 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SPG7 for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9UQ90ProtoNet protein and cluster: Q9UQ90 1 Blocks protein family: IPB000642 Peptidase M41
UniProtKB/Swiss-Prot: SPG7_HUMAN, Q9UQ90Similarity: In the N-terminal section; belongs to the AAA ATPase familySimilarity: In the C-terminal section; belongs to the peptidase M41 family |
Function
for SPG7 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: SPG7_HUMAN, Q9UQ90Function: Putative ATP-dependent zinc metalloprotease Genatlas biochemistry entry for SPG7:paraplegin,nuclear-encoded mitochondrial metalloprotease with homology to yeast AFG3 of the AAA family (adenosinetriphosphatases associated with diverse activities),potentially involved in the turnover of mitochondrialproteins,expressed in central nervous system,specifically in amygdalia,caudate nucleus,thalamus subthalmic nucleus andspinal cord
Enzyme Numbers (IUBMB): EC 3.4.24.-1 EC 3.4.242
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SPG7 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SPG7 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): SPG7 (NM_003119) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SPG7 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPG7 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPG7 |
Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table
SPG7 for ontologies About GeneDecksing
Animal Models:
Mouse knock-out Spg7tm1Eir for SPG7
4 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Spg7):
SPG7 for phenotypes About GeneDecksing
|
Pathways & Interactions
for SPG7 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SPG7
STRING Interaction
Network Preview (showing 5 interactants - click image to see 14)
5/22 Interacting proteins for SPG7 (Q9UQ902, 3 ENSP000002687044) via UniProtKB, MINT, STRING, and/or I2D (see all 22)About this table
Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table
SPG7 for ontologies About GeneDecksing
|
Drugs & Compounds
for SPG7 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
SPG7 for compounds About GeneDecksing
 Browse Tocris compounds for SPG7
7 Novoseek chemical compound relationships for SPG7 gene About this table
2 PharmGKB related drug/compound annotations for SPG7 geneAbout this table
Search CenterWatch for drugs/clinical trials and news about SPG7
|
Transcripts
for SPG7 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for SPG7 gene (2 alternative transcripts): NM_003119.2 NM_199367.1 Unigene Cluster for SPG7: Spastic paraplegia 7 (pure and complicated autosomal recessive) Hs.185597 [show with all ESTs]Unigene Representative Sequence: NM_00311918/22 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)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SPG7 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SPG7 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): SPG7 (NM_003119) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SPG7 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPG7 |
Additional cDNA sequence: BC007692.1 BC015411.1 BC035929.2 BC036104.1 BC052587.1 BC110530.2 BC110531.2 S54769.1 Y16610.1 Z35498.1 24/25 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: BC035929 CR609511 NM_199367 NM_003119 BC036104 Y16610 S54769 AF090912 BC007692 BC015411 AK094627 BC052587 AF034795 Z35498
GeneLoc Exon Structure
5/18 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
|
Expression
for SPG7 gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| SPG7 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAGTGTTGGG
About this image
See SPG7 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SPG7
SOURCE GeneReport for Unigene cluster: Hs.185597
UniProtKB/Swiss-Prot: SPG7_HUMAN, Q9UQ90Tissue specificity: Ubiquitous
SABiosciences Expression via Pathway-Focused PCR Array including SPG7: | Extracellular Matrix & Adhesion Molecules in human mouse rat |
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SPG7
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SPG7 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SPG7 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPG7 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPG7 |
Orthologs
for SPG7 gene
(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)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for SPG7 gene from 9/30 species (see all 30) About this table
ENSEMBL Gene Tree for SPG7 (if available)
TreeFam Gene Tree for SPG7 (if available) |
Paralogs
for SPG7 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for SPG7 gene
- AFG3L22
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
SPG7 for paralogs About GeneDecksing
|
Genomic Variants
for SPG7 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 16 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for SPG7 (89557325 - 89624176 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for SPG7
1 CNV: 4018
Human Gene Mutation Database (HGMD): SPG7
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SPG7 |
|
Disorders
/ Diseases
for SPG7 gene
(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.)
About This Section
|
SPG7 for disorders About GeneDecksing
OMIM gene information: 602783
OMIM disorders: 607259
UniProtKB/Swiss-Prot: SPG7_HUMAN, Q9UQ90
Defects in SPG7 are the cause of spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:607259]. Spasticparaplegia is a degenerative spinal cord disorder characterized by a slow, gradual, progressive weakness andspasticity of the lower limbs. SPG7 is a complex form. Additional clinical features are cerebellar syndrome,supranuclear palsy, and cognitive impairment, particularly disturbance of attention and executive functions Note=Defects in SPG7 may cause autosomal recessive osteogenesis imperfecta (OI). Osteogenesis imperfectadefines a group of connective tissue disorders characterized by bone fragility and low bone mass. Clinical features ofSPG7-related osteogenesis imperfecta include recurrent fractures, mild bone deformities, delayed tooth eruption,normal hearing and white sclera
20/41  diseases for SPG7 (see all 41): About MalaCardsspastic paraplegia paraplegia spasticity hypocalciuric hypercalcemia
spinocerebellar ataxia type 28 familial hypocalciuric hypercalcemia hereditary spastic paraplegia osteogenesis imperfecta
hypercalcemia spinocerebellar ataxia kbg syndrome supranuclear palsy
hypocalcemia spastic paraparesis cancer progression/metastasis hypoparathyroidism
hypercalciuria proliferative glomerulonephritis blau syndrome secondary hyperparathyroidism
5 diseases from the University of Copenhagen DISEASES database for SPG7:Paraplegia Glomerulonephritis Nephrotic syndrome Optic atrophy
KBG syndrome 10/16 Novoseek 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 cerebellaratrophy,associated with a defect in oxidative phosphorylation,late onset
GeneTests: SPG7
Spastic Paraplegia 7
Human Genome Epidemiology (HuGE) Navigator: SPG7 (4 documents)
Export disorders for SPG7 gene to outside databases
|
Publications
for SPG7 gene (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)
About This Section
|
PubMed articles for SPG7 gene, integrated from 9 sources (see all 91):
(articles sorted by number of sources associating them with SPG7) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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. (1998)
- Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. (PubMed id 16534102)1, 2, 9 Elleuch N....Brice A. (2006)
- Genomic structure and expression analysis of the spastic paraplegia gene, SPG7. (PubMed id 10480368)1, 2, 9 Settasatian C.... Callen D.F. (1999)
- 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. (2003)
- Crystal structure of the ATPase domain of the human A AA+ protein paraplegin/SPG7. (PubMed id 19841671)1, 2, 9 Karlberg T....SchA1ler H. (2009)
- A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation. (PubMed id 17646629)1, 2 Warnecke T.... Young P. (2007)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- A new locus for autosomal recessive hereditary spasti c paraplegia maps to chromosome 16q24.3. (PubMed id 9634528)1, 3 De Michele G....Cocozza S. (1998)
- Functional evaluation of paraplegin mutations by a ye ast complementation assay. (PubMed id 20186691)2, 9 Bonn F....Mannan A.U. (2010)
- A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia. (PubMed id 18200586)1, 9 Arnoldi A....Bassi M.T. (2008)
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External Searches for SPG7 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing SPG7 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing SPG7 gene
(According to HUGE)
About This Section
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Specialized Databases showing SPG7 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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|
| Name | Description |
| PharmGKB entry for SPG7 | Pharmacogenomics, SNPs, Pathways | | ATLAS Chromosomes in Cancer entry for SPG7 | Genetics and Cytogenetics in Oncology and Haematology | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SPG7 | | Osteogenesis imperfecta variant database | http://oi.gene.le.ac.uk/home.php?select_db=SP7 |
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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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Products
for SPG7 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
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| | |  | OriGene Antibodies for SPG7 | | OriGene shRNA RFP for SPG7 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SPG7 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SPG7 | | | OriGene Protein Over-expression Lysate for SPG7 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for SPG7 | | OriGene 3'-UTR Clone for SPG7 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SPG7 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SPG7 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for SPG7 | | OriGene Custom Protein Services for SPG7 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SPG7 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SPG7 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPG7 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SPG7 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPG7 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SPG7 |
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| | | | Search Tocris compounds for SPG7 |
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 | | | SPG7 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPG7 |
|  |  |  | | | | ThermoFisher Antibodies for SPG7 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPG7 |
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