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Spg20
Gene Detail
Symbol

Name
ID
Spg20
spastic paraplegia 20, spartin (Troyer syndrome) homolog (human)
MGI:2139806
Synonyms
mKIAA0610, TAHCCP1
Feature Type
protein coding gene
Genetic Map
Chromosome 3
26.53 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr3:55112108-55137322 bp, + strand
From VEGA annotation of GRCm38

  25215 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HCOP human homology predictions: SPG20
Gene Tree: Spg20
Human
homologs
SPG20, spastic paraplegia 20 (Troyer syndrome)
Orthology source: HGNC

IDs:
NCBI Gene ID: 23111
neXtProt AC: NX_Q8N0X7

Human Synonyms: SPARTIN, TAHCCP1

Human Chr (Location): 13q13.3; chr13:36301638-36370180 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human SPG20

Mutations,
alleles, and
phenotypes
All mutations/alleles(9) : Gene trapped(2) Targeted(7)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mice homozygous for a knock-out allele exhibit impaired lipid droplet amintenance, cytokinesis and impaired motor coordination.
 
Human Diseases Modeled in Mice Using Spg20 (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Spg20 interacts with 280 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (13 annotations)
Process adipose tissue development, cytokinesis, ...
Component cytoplasm, lipid particle, ...
Function protein binding
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (24)    Tissues (3)    Images (19)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 24
cDNA source data(112)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase spg20    NEW 
Molecular
reagents
All nucleic(112) cDNA(112)
Microarray probesets(6)
Other database
links
VEGA Gene Model OTTMUSG00000026686 (Evidence)
Ensembl Gene Model ENSMUSG00000036580 (Evidence)
Entrez Gene 229285 (Evidence)
UniGene 235523
DFCI TC1572674, TC1607872, TC1597243
DoTS DT.97346371, DT.488250, DT.101738411, DT.101738410
NIA Mouse Gene Index U003243
Consensus CDS Project CCDS38432.1, CCDS50908.1
International Mouse Phenotyping Consortium Status Spg20
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000026686 VEGA Gene Model | MGI Sequence Detail 25215 C57BL/6J ±  kb
transcript OTTMUST00000066031 VEGA | MGI Sequence Detail 3770 Not Applicable 
polypeptide OTTMUSP00000033003 VEGA | MGI Sequence Detail 671 Not Applicable 

For the selected sequences
All sequences(73) RefSeq(8) UniProt(5)
Polymorphisms
SNPs within 2kb(188 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR007330 MIT
InterPro IPR009686 Senescence/spartin-associated
Protein Ontology PR:000015518 spartin
References
(Earliest) J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
(Latest) J:190122 Cobanoglu G, et al., Are alsin and spartin novel interaction partners?. Biochem Biophys Res Commun. 2012 Oct 12;427(1):1-4
All references(39)
Disease annotation references (1)
Other
accession IDs
MGI:2140061

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
07/21/2015
MGI 5.22
The Jackson Laboratory