About   Help   FAQ
Spg21 Gene Detail
Summary
  • Symbol
    Spg21
  • Name
    SPG21, maspardin
  • Synonyms
    ACP33, BM-019, D9Wsu18e, GL010
  • Feature Type
    protein coding gene
  • IDs
    MGI:106403
    NCBI Gene: 27965
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
  • Candidate for QTL
    1 QTL
Location &
Maps
more
  • Sequence Map
    Chr9:65368229-65395752 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 35.32 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    898 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_106403
 protein coding gene Chr9:65360571-65395753 (+)
129S1/SvImJ MGP_129S1SvImJ_G0034960
 protein coding gene Chr9:65196277-65223797 (+)
A/J MGP_AJ_G0034940
 protein coding gene Chr9:62998513-63025989 (+)
AKR/J MGP_AKRJ_G0034870
 protein coding gene Chr9:64490463-64517742 (+)
BALB/cJ MGP_BALBcJ_G0034933
 protein coding gene Chr9:62721448-62749253 (+)
C3H/HeJ MGP_C3HHeJ_G0034643
 protein coding gene Chr9:65018893-65046336 (+)
C57BL/6NJ MGP_C57BL6NJ_G0035452
 protein coding gene Chr9:66978443-67011199 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0032363
 protein coding gene Chr9:62647972-62675626 (+)
CAST/EiJ MGP_CASTEiJ_G0033964
 protein coding gene Chr9:65203537-65233650 (+)
CBA/J MGP_CBAJ_G0034614
 protein coding gene Chr9:69322339-69357506 (+)
DBA/2J MGP_DBA2J_G0034773
 protein coding gene Chr9:62768143-62796712 (+)
FVB/NJ MGP_FVBNJ_G0034715
 protein coding gene Chr9:62093194-62121258 (+)
LP/J MGP_LPJ_G0034856
 protein coding gene Chr9:65473162-65501786 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0034757
 protein coding gene Chr9:70538727-70567736 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0035474
 protein coding gene Chr9:64589142-64618101 (+)
PWK/PhJ MGP_PWKPhJ_G0033668
 protein coding gene Chr9:62973668-63001259 (+)
SPRET/EiJ MGP_SPRETEiJ_G0033502
 protein coding gene Chr9:64875755-64903919 (+)
WSB/EiJ MGP_WSBEiJ_G0034077
 protein coding gene Chr9:64493209-64521142 (+)



Homology
more
  • Human Ortholog
    SPG21, SPG21 abhydrolase domain containing, maspardin
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SPG21, SPG21 abhydrolase domain containing, maspardin
  • Synonyms
    ABHD21, ACP33, BM-019, GL010, MAST
  • Links
    NCBI Gene ID: 51324
    neXtProt AC: NX_Q9NZD8
    UniProt: Q9NZD8

  • Chr Location
    15q22.31; chr15:64963022-64990310 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Spg21 mouse models; 2 with human SPG21 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
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
    6 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.
Mice homozygous for a null allele exhibit impaired coordination, dragging of the hind limbs, attenuated growth and maturation of cortical neurons and abnormal cortical neuron axonal branching.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    19
  • GO References
    5
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
    752
  • Tissues
    5
  • cDNA Data
    85
  • Literature Summary
    2
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000032388 Ensembl Gene Model | MGI Sequence Detail 27524 C57BL/6J ±  kb
transcript ENSMUST00000034955 Ensembl | MGI Sequence Detail 2680 Not Applicable  
polypeptide ENSMUSP00000034955 Ensembl | MGI Sequence Detail 308 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 87
    cDNA 86
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-34096, MGI:2143397
References
more
  • Summaries
    All 38
    Developmental Gene Expression 2
    Diseases 1
    Gene Ontology 5
    Phenotypes 10
  • Earliest
    J:50869 Ko MSH, et al., Genome-wide mapping of unselected transcripts from extraembryonic tissue of 7.5-day mouse embryos reveals enrichment in the t-complex and under-representation on the X chromosome. Hum Mol Genet. 1998 Nov;7(12):1967-78
  • Latest
    J:302080 Davenport A, et al., Loss of Maspardin Attenuates the Growth and Maturation of Mouse Cortical Neurons. Neurodegener Dis. 2016;16(3-4):260-72
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