About   Help   FAQ
Spg20 Gene Detail
Summary
  • Symbol
    Spg20
  • Name
    spastic paraplegia 20, spartin (Troyer syndrome) homolog (human)
  • Synonyms
    mKIAA0610, TAHCCP1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2139806
    NCBI Gene: 229285
  • Gene Overview
    MyGene.info: SPART
  • Alliance
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:55112108-55137322 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 26.53 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    188 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2139806
protein coding gene Chr3:55112074-55137332 (.)
129S1/SvImJ MGP_129S1SvImJ_G0027220
protein coding gene Chr3:53839516-53864728 (+)
A/J MGP_AJ_G0027180
protein coding gene Chr3:52173437-52198755 (+)
AKR/J MGP_AKRJ_G0027150
protein coding gene Chr3:53256236-53281351 (+)
BALB/cJ MGP_BALBcJ_G0027193
protein coding gene Chr3:52025106-52050317 (+)
C3H/HeJ MGP_C3HHeJ_G0026936
protein coding gene Chr3:53457172-53482383 (+)
C57BL/6NJ MGP_C57BL6NJ_G0027639
protein coding gene Chr3:55897057-55922271 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024998
protein coding gene Chr3:48692165-48717320 (+)
CAST/EiJ MGP_CASTEiJ_G0026388
protein coding gene Chr3:53601930-53628407 (+)
CBA/J MGP_CBAJ_G0026912
protein coding gene Chr3:57669259-57694470 (+)
DBA/2J MGP_DBA2J_G0027046
protein coding gene Chr3:51726473-51751676 (+)
FVB/NJ MGP_FVBNJ_G0027014
protein coding gene Chr3:50718576-50743735 (+)
LP/J MGP_LPJ_G0027158
protein coding gene Chr3:54551887-54577101 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0027032
protein coding gene Chr3:61791215-61816324 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0027697
protein coding gene Chr3:53161103-53186317 (+)
PWK/PhJ MGP_PWKPhJ_G0026120
protein coding gene Chr3:51398367-51423528 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025933
protein coding gene Chr3:52918118-52943401 (+)
WSB/EiJ MGP_WSBEiJ_G0026462
protein coding gene Chr3:53288631-53313838 (+)



Homology
more
  • Human Ortholog
    SPART, spartin
  • Human Ortholog
    SPART, spartin
    Orthology source: HGNC
  • Synonyms
    SPG20, TAHCCP1
  • Links
    NCBI Gene ID: 23111
    neXtProt AC: NX_Q8N0X7
    UniProt: Q8N0X7

  • Chr Location
    13q13.3; chr13:36301638-36370180 (-)  GRCh38.p7

  • HCOP
    human homology predictions: SPART
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Spg20 mouse models; 1 with human SPART 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
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    23 phenotypes from 2 alleles in 2 genetic backgrounds
    15 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit impaired lipid droplet amintenance, cytokinesis and impaired motor coordination.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000036580 Ensembl Gene Model | MGI Sequence Detail 25215 C57BL/6J ±  kb
    transcript ENSMUST00000044116 Ensembl | MGI Sequence Detail 3770 Not Applicable  
    polypeptide ENSMUSP00000042367 Ensembl | MGI Sequence Detail 671 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 114
      cDNA 114

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:2140061
    References
    more
    • Summaries
      All 45
      Developmental Gene Expression 1
      Diseases 2
      Gene Ontology 6
      Phenotypes 15
    • Earliest
      J:64276 Lyon MF, et al., Dose-response curves for radiation-induced gene mutations in mouse oocytes and their interpretation. Mutat Res. 1979 Nov;63(1):161-73
    • Latest
      J:236599 Dickinson ME, et al., High-throughput discovery of novel developmental phenotypes. Nature. 2016 Sep 14;537(7621):508-514

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory