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Spg11 Gene Detail
Summary
  • Symbol
    Spg11
  • Name
    spastic paraplegia 11
  • Synonyms
    6030465E24Rik, C530005A01Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2444989
    NCBI Gene: 214585
  • Gene Overview
    MyGene.info: SPG11
Location & Maps
more
  • Sequence Map
    Chr2:122053520-122118386 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      64867 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    SPG11, spastic paraplegia 11 (autosomal recessive)
  • Vertebrate Orthologs
    8
  • Human Ortholog
    SPG11, spastic paraplegia 11 (autosomal recessive)
    Orthology source: HomoloGene
  • Synonyms
    ALS5, CMT2X, KIAA1840
  • Links
    NCBI Gene ID: 80208
    neXtProt AC: NX_Q96JI7

  • Chr Location
    15q14; chr15:44562696-44663678 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human SPG11 associations

Human Disease Mouse Models
       Spastic Paraplegia 11, Autosomal Recessive; SPG11   OMIM: 604360
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    9 phenotype references
  • All Mutations and Alleles
    15
  • Chemically induced (other)
    1
  • Gene trapped
    13
  • Radiation induced
    1
  • Genomic Mutations
    2 involving Spg11
  • Incidental Mutations
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
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000015533 VEGA Gene Model | MGI Sequence Detail 64867 C57BL/6J ±  kb
transcript OTTMUST00000036886 VEGA | MGI Sequence Detail 7671 Not Applicable  
polypeptide OTTMUSP00000016549 VEGA | MGI Sequence Detail 2430 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    503 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 7
    cDNA 7

    Microarray probesets 4
Other
Accession IDs
less
MGI:2443068
References
more
  • Summaries
    All 28
    Gene Ontology 4
    Phenotypes 9
  • Earliest
    J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
  • Latest
    J:228803 Varga RE, et al., In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11. PLoS Genet. 2015 Aug;11(8):e1005454

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory