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Spg7
Gene Detail
Symbol

Name
ID
Spg7
spastic paraplegia 7 homolog (human)
MGI:2385906
Synonyms
Cmar, paraplegin
Feature Type
protein coding gene
Genetic Map
Chromosome 8
72.04 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr8:123062942-123097760 bp, + strand
From VEGA annotation of GRCm38

  34819 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:31133  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: SPG7
Gene Tree: Spg7

Human
homologs
SPG7, spastic paraplegia 7 (pure and complicated autosomal recessive)
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 6687
neXtProt AC: NX_Q9UQ90

Human Synonyms: CAR, CMAR, PGN, SPG5C

Human Chr (Location): 16q24.3; chr16:89508381-89557768 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human SPG7

Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Targeted(4)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygous null mice exhibit impaired motor skills, putativley associated with axonal degeneration in the central and peripheral nervous systems.
 
Human Diseases Modeled in Mice Using Spg7 (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Spg7 interacts with 28 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (22 annotations)
Process anterograde axon cargo transport, cell adhesion, ...
Component cell, integral component of membrane, ...
Function ATP binding, hydrolase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (9)    Tissues (7)    Images (6)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 9
cDNA source data(91)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase spg7    NEW 
Molecular
reagents
All nucleic(92) cDNA(92)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000022131 (Evidence)
Ensembl Gene Model ENSMUSG00000000738 (Evidence)
Entrez Gene 234847 (Evidence)
UniGene 292075
DFCI TC1576449, TC1757180, TC1708981, TC1656912
DoTS DT.101353618, DT.94298664, DT.101734694, DT.40153110, DT.533617
NIA Mouse Gene Index U009924
EC 3.4.24.-
Consensus CDS Project CCDS40508.1
International Mouse Phenotyping Consortium Status Spg7
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000022131 VEGA Gene Model | MGI Sequence Detail 34819 C57BL/6J ±  kb
transcript OTTMUST00000052521 VEGA | MGI Sequence Detail 2896 Not Applicable 
polypeptide OTTMUSP00000024918 VEGA | MGI Sequence Detail 781 Not Applicable 

For the selected sequences
All sequences(91) RefSeq(2) UniProt(10)
Polymorphisms
SNPs within 2kb(231 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003593 AAA+ ATPase domain
InterPro IPR003959 ATPase, AAA-type, core
InterPro IPR005936 Peptidase, FtsH
InterPro IPR000642 Peptidase M41
InterPro IPR011546 Peptidase M41, FtsH extracellular
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
Protein Ontology PR:000015520 paraplegin
References
(Earliest) J:45282 Molla A, et al., Cotranscription of two RNA coding for the cell adhesion regulator and its variant in Reh leukemia cells. Biochim Biophys Acta. 1996 Jan 17;1315(1):6-8
(Latest) J:187268 Mancuso G, et al., Alternative splicing of Spg7, a gene involved in hereditary spastic paraplegia, encodes a variant of paraplegin targeted to the endoplasmic reticulum. PLoS One. 2012;7(5):e36337
All references(37)
Disease annotation references (2)
Other
accession IDs
MGI:1927352, MGI:2142555, MGI:2142674

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/30/2015
MGI 5.22
The Jackson Laboratory