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Spg7 Gene Detail
Summary
  • Symbol
    Spg7
  • Name
    spastic paraplegia 7 homolog (human)
  • Synonyms
    Cmar, paraplegin
  • Feature Type
    protein coding gene
  • IDs
    MGI:2385906
    NCBI Gene: 234847
Location & Maps
more
  • Sequence Map
    Chr8:123062942-123097760 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      34819 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    SPG7, spastic paraplegia 7 (pure and complicated autosomal recessive)
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SPG7, spastic paraplegia 7 (pure and complicated autosomal recessive)
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CAR, CMAR, PGN, SPG5C
  • Links
    NCBI Gene ID: 6687
    neXtProt AC: NX_Q9UQ90

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

  • HomoloGene
    Vertebrate Homology Class 31133
    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
Human Diseases
more
  • Diseases
    1 with Spg7 mouse models; 1 with human SPG7 associations

Human Disease Mouse Models
       Spastic Paraplegia 7, Autosomal Recessive; SPG7   OMIM: 607259 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    9 phenotypes from 1 allele in 1 genetic background
    6 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
Homozygous null mice exhibit impaired motor skills, putativley associated with axonal degeneration in the central and peripheral nervous systems.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    231 from dbSNP Build 137
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 92
    cDNA 92

    Microarray probesets 3
Other
Accession IDs
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MGI:1927352, MGI:2142555, MGI:2142674
References
more
  • Summaries
    All 34
    Developmental Gene Expression 1
    Diseases 2
    Gene Ontology 7
    Phenotypes 6
  • 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

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
01/26/2016
MGI 6.02
The Jackson Laboratory