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

HomoloGene:32243  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Spg20

Human homologs

Human Homolog		SPG20, spastic paraplegia 20 (Troyer syndrome)
NCBI Gene ID		23111
neXtProt AC		NX_Q8N0X7
Human Synonyms		SPARTIN, TAHCCP1
Human Chr (Location)		13q13.3; chr13:36875775-36944317 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human SPG20

Alleles and phenotypes

All alleles(8) : Targeted(6) Gene trapped(2)
 

Mice homozygous for a knock-out allele exhibit impaired lipid droplet amintenance, cytokinesis and impaired motor coordination.

 
Human Diseases Modeled Using Mouse Spg20 (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (17 annotations)

Process	abscission, adipose tissue development, ...
Component	cytoplasm, lipid particle, ...
Function	protein binding, ubiquitin protein ligase binding

External Resources: FuncBase

Expression

Literature Summary: (1 records)
Data Summary: Results (24)    Tissues (3)    Images (19)
Theiler Stages: 23

Assay Type	Results
RNA in situ	24

cDNA source data(112)
External Resources: Allen Institute   GEO   ArrayExpress

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, TC1597243, TC1607872
DoTS	DT.101738410, DT.101738411, DT.488250, DT.97346371
NIA Mouse Gene Index	U003243
Consensus CDS Project	CCDS38432.1, CCDS50908.1
International Mouse Knockout Project Status	Spg20

Sequences

Length	Strain/Species
genomic	OTTMUSG00000026686	VEGA Gene Model | MGI Sequence Detail	25215	C57BL/6J
transcript	OTTMUST00000066031	VEGA | MGI Sequence Detail	3770	Not Applicable
polypeptide	OTTMUSP00000033003	VEGA | MGI Sequence Detail	671	Not Applicable

All sequences(70) RefSeq(6) UniProt(5)

Polymorphisms

SNPs(118 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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(38)

Other accession IDs

MGI:2140061