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Spg11
Gene Detail
Symbol

Name
ID
Spg11
spastic paraplegia 11
MGI:2444989
Synonyms
6030465E24Rik, C530005A01Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 2
60.50 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr2:122053520-122118386 bp, - strand
From VEGA annotation of GRCm38

  64867 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:41614  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

HCOP human homology predictions: SPG11
Gene Tree: Spg11

Human
homologs
SPG11, spastic paraplegia 11 (autosomal recessive)
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 80208
neXtProt AC: NX_Q96JI7

Human Synonyms: KIAA1840

Human Chr (Location): 15q14; chr15:44562696-44663678 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human SPG11

Mutations,
alleles, and
phenotypes
All mutations/alleles(13) : Gene trapped(13)
Incidental mutations (data from Mutagenetix , APF )
Interactions
Spg11 interacts with 98 markers (Mir17, Mir20b, Mir22, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (20 annotations)
Process axon cargo transport, axon extension, ...
Component axon, cell, ...
Function molecular_function
External Resources: FuncBase
Expression
cDNA source data(7)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase spg11 ; ZFIN spg11    NEW 
Molecular
reagents
All nucleic(7) cDNA(7)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000015533 (Evidence)
Ensembl Gene Model ENSMUSG00000033396 (Evidence)
Entrez Gene 214585 (Evidence)
DFCI TC1582070, TC1587405, TC1597276, TC1612109
NIA Mouse Gene Index U023270, U131218
Consensus CDS Project CCDS50687.1
International Mouse Phenotyping Consortium Status Spg11
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000015533 VEGA Gene Model | MGI Sequence Detail 64867 C57BL/6J ±  kb
transcript OTTMUST00000036886 VEGA | MGI Sequence Detail 7671 Not Applicable 
polypeptide OTTMUSP00000016549 VEGA | MGI Sequence Detail 2430 Not Applicable 

For the selected sequences
All sequences(42) RefSeq(12) UniProt(1)
Polymorphisms
SNPs within 2kb(521 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR028103 Spatacsin
InterPro IPR028107 Spatacsin, C-terminal domain
Protein Ontology PR:000015517 spatacsin
References
(Earliest) J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
(Latest) J:213593 Perez-Branguli F, et al., Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia. Hum Mol Genet. 2014 Sep 15;23(18):4859-74
All references(29)
Other
accession IDs
MGI:2443068

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
08/25/2015
MGI 6.0
The Jackson Laboratory