About   Help   FAQ
Spg7 Gene Detail
Summary
  • Symbol
    Spg7
  • Name
    SPG7, paraplegin matrix AAA peptidase subunit
  • Synonyms
    Cmar, paraplegin, spastic paraplegia 7 homolog (human)
  • Feature Type
    protein coding gene
  • IDs
    MGI:2385906
    NCBI Gene: 234847
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:123792247-123824499 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 72.04 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    873 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2385906
 protein coding gene Chr8:123789681-123824499 (+)
129S1/SvImJ MGP_129S1SvImJ_G0034240
 protein coding gene Chr8:126655205-126691819 (+)
A/J MGP_AJ_G0034220
 protein coding gene Chr8:121407134-121442601 (+)
AKR/J MGP_AKRJ_G0034147
 protein coding gene Chr8:124942932-124980008 (+)
BALB/cJ MGP_BALBcJ_G0034214
 protein coding gene Chr8:121599296-121634089 (+)
C3H/HeJ MGP_C3HHeJ_G0033924
 protein coding gene Chr8:125640332-125675503 (+)
C57BL/6NJ MGP_C57BL6NJ_G0034733
 protein coding gene Chr8:130891271-130927922 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0031675
 protein coding gene Chr8:114216599-114261720 (+)
CAST/EiJ MGP_CASTEiJ_G0033252
 protein coding gene Chr8:125724890-125761491 (+)
CBA/J MGP_CBAJ_G0033897
 protein coding gene Chr8:135680309-135715243 (+)
DBA/2J MGP_DBA2J_G0034054
 protein coding gene Chr8:120589434-120624633 (+)
FVB/NJ MGP_FVBNJ_G0033997
 protein coding gene Chr8:119738570-119778588 (+)
LP/J MGP_LPJ_G0034143
 protein coding gene Chr8:126780216-126824082 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0034044
 protein coding gene Chr8:137821994-137861559 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0034752
 protein coding gene Chr8:125122735-125159915 (+)
PWK/PhJ MGP_PWKPhJ_G0032953
 protein coding gene Chr8:120417623-120454372 (+)
SPRET/EiJ MGP_SPRETEiJ_G0032793
 protein coding gene Chr8:123853245-123892828 (+)
WSB/EiJ MGP_WSBEiJ_G0033368
 protein coding gene Chr8:125877773-125916790 (+)



Homology
more
  • Human Ortholog
    SPG7, SPG7 matrix AAA peptidase subunit, paraplegin
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SPG7, SPG7 matrix AAA peptidase subunit, paraplegin
  • Synonyms
    CAR, CMAR, PGN, SPG5C
  • Links
    NCBI Gene ID: 6687
    neXtProt AC: NX_Q9UQ90
    UniProt: Q9UQ90

  • Chr Location
    16q24.3; chr16:89490719-89557768 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Spg7 mouse models; 1 with human SPG7 associations

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

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

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
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
less
  • All GO Annotations
    38
  • GO References
    13
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    723
  • Tissues
    8
  • cDNA Data
    91
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 234847 NCBI Gene Model | MGI Sequence Detail 32253 C57BL/6J ±  kb
    transcript NR_157166 RefSeq | MGI Sequence Detail 2616 C57BL/6  
    polypeptide Q3ULF4 UniProt | EBI | MGI Sequence Detail 781 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 93
      Genomic 1
      cDNA 92

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1927352, MGI:2142555, MGI:2142674
    References
    more
    • Summaries
      All 45
      Developmental Gene Expression 2
      Diseases 1
      Gene Ontology 13
      Phenotypes 10
    • 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:309774 Sambri I, et al., Impaired flickering of the permeability transition pore causes SPG7 spastic paraplegia. EBioMedicine. 2020 Nov;61:103050
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory