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Spg11 Gene Detail
Summary
  • Symbol
    Spg11
  • Name
    SPG11, spatacsin vesicle trafficking associated
  • Synonyms
    6030465E24Rik, C530005A01Rik, spastic paraplegia 11
  • Feature Type
    protein coding gene
  • IDs
    MGI:2444989
    NCBI Gene: 214585
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:121884001-121948867 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 60.50 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    503 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2444989
 protein coding gene Chr2:121884001-121949915 (-)
129S1/SvImJ MGP_129S1SvImJ_G0026404
 protein coding gene Chr2:125032331-125100353 (-)
A/J MGP_AJ_G0026366
 protein coding gene Chr2:119920358-119990635 (-)
AKR/J MGP_AKRJ_G0026343
 protein coding gene Chr2:123283504-123349131 (-)
BALB/cJ MGP_BALBcJ_G0026378
 protein coding gene Chr2:120148621-120215590 (-)
C3H/HeJ MGP_C3HHeJ_G0026123
 protein coding gene Chr2:123778134-123838199 (-)
C57BL/6NJ MGP_C57BL6NJ_G0026825
 protein coding gene Chr2:129093101-129163588 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024203
 protein coding gene Chr2:114899335-114962440 (-)
CAST/EiJ MGP_CASTEiJ_G0025585
 protein coding gene Chr2:124099342-124165378 (-)
CBA/J MGP_CBAJ_G0026102
 protein coding gene Chr2:133644751-133718730 (-)
DBA/2J MGP_DBA2J_G0026239
 protein coding gene Chr2:119307163-119386880 (-)
FVB/NJ MGP_FVBNJ_G0026201
 protein coding gene Chr2:118113293-118177159 (-)
LP/J MGP_LPJ_G0026341
 protein coding gene Chr2:125279892-125348871 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0026221
 protein coding gene Chr2:137857038-137924263 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0026880
 protein coding gene Chr2:123393689-123463578 (-)
PWK/PhJ MGP_PWKPhJ_G0025321
 protein coding gene Chr2:118930044-118997753 (-)
SPRET/EiJ MGP_SPRETEiJ_G0025121
 protein coding gene Chr2:122539527-122606694 (-)
WSB/EiJ MGP_WSBEiJ_G0025657
 protein coding gene Chr2:124257041-124324032 (-)



Homology
more
  • Human Ortholog
    SPG11, SPG11 vesicle trafficking associated, spatacsin
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SPG11, SPG11 vesicle trafficking associated, spatacsin
  • Synonyms
    ALS5, CMT2X, KIAA1840
  • Links
    NCBI Gene ID: 80208
    neXtProt AC: NX_Q96JI7
    UniProt: Q96JI7

  • Chr Location
    15q21.1; chr15:44554818-44663688 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Spg11 mouse models; 3 with human SPG11 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
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
    26 phenotypes from 2 alleles in 2 genetic backgrounds
    7 images
    18 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.
Mice homozygous for a knock-out allele develop a progressive spastic and ataxic gait disorder and show loss of cortical motoneurons and Purkinje cells, a reduced number of lysosomes available for fusion with autophagosomes in degenerating neurons, and accumulation of autolysosome-derived material.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    49
  • GO References
    10
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
non-membrane-bounded 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
    706
  • cDNA Data
    9
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000033396 Ensembl Gene Model | MGI Sequence Detail 64867 C57BL/6J ±  kb
    transcript ENSMUST00000036450 Ensembl | MGI Sequence Detail 7671 Not Applicable  
    polypeptide ENSMUSP00000037543 Ensembl | MGI Sequence Detail 2430 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 9
      cDNA 9

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2443068
    References
    more
    • Summaries
      All 42
      Diseases 1
      Gene Ontology 10
      Phenotypes 18
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:345889 Horner M, et al., Clinically approved immunomodulators ameliorate behavioral changes in a mouse model of hereditary spastic paraplegia type 11. Front Neurosci. 2024;18:1299554
    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
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory