SPG11 (SPG11 vesicle trafficking associated, spatacsin)

2014-08-01  

Identity

HGNC
LOCATION
15q21.1
LOCUSID
ALIAS
ALS5,CMT2X,KIAA1840
FUSION GENES

Other Information

Locus ID:

NCBI: 80208
MIM: 610844
HGNC: 11226
Ensembl: ENSG00000104133

Variants:

dbSNP: 80208
ClinVar: 80208
TCGA: ENSG00000104133
COSMIC: SPG11

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000104133ENST00000261866Q96JI7
ENSG00000104133ENST00000427534C4B7M2
ENSG00000104133ENST00000535302Q96JI7
ENSG00000104133ENST00000557866A0A075B718
ENSG00000104133ENST00000558138H0YLR8
ENSG00000104133ENST00000558155H0YLK0
ENSG00000104133ENST00000558319Q96JI7
ENSG00000104133ENST00000558988H0YN96
ENSG00000104133ENST00000559193H0YN34
ENSG00000104133ENST00000559511H0YLK7
ENSG00000104133ENST00000559754H0YM73
ENSG00000104133ENST00000559822H0YKC1
ENSG00000104133ENST00000560435H0YK24
ENSG00000104133ENST00000560858H0YKY8

Expression (GTEx)

0
5
10
15
20
25
30
35

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
173228832007Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.77
206693272010Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.67
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
201102432010SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.61
253652212014Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation.55
180791672008Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.47
238250252013Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15.38
221548212012Exome sequencing reveals SPG11 mutations causing juvenile ALS.34
272173392016Genetic and phenotypic characterization of complex hereditary spastic paraplegia.34
247948562014Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia.31

Citation

Dessen P

SPG11 (SPG11 vesicle trafficking associated, spatacsin)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54663/spg11