Gene: SPG11

80208
ALS5|CMT2X|KIAA1840
SPG11, spatacsin vesicle trafficking associated
protein-coding
15q21.1
Ensembl:ENSG00000104133 MIM:610844 Vega:OTTHUMG00000131199 UniprotKB:Q96JI7
NG_008885.1
SNP Mapped
1   ANCO-SNPs
AD
0   
NA (AD)  NA (ND)   (Frontal_Cortex)
2.639e-3 (AD)  5.643e-1 (ND)

ANCO-SNPs

SNP ID Position Alleles Trait Variation Type
rs3759871chr15:44651559 (GRCh38.p7)A>Galcohol dependenceSNV(Single Nucleotide Variation)

DNA Methylation

Probe Locus(GRCh37) Gene Region p-val Trait PubMed ID
cg25008614chr15:44956192SPG111.100e-8Smoking27651444

Gene Expression in Different Tissues

Temporal and Spatial Expressions (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes average value of the expressions.

Top Co-expressed Genes in Brain-Frontal Cortex (BA9) (GTEx v7)

Top 10 positively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
ANKFY10.94
ANKHD10.897
ZFYVE260.887
SON0.881
PIAS30.879
ARNT0.878
KDM3B0.876
RBL20.875
SYNRG0.874
TAF10.874

Top 10 negatively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
OR4F5-0.551
OR4F29-0.518
KLRC2-0.25
NANOGNB-0.234
MUC12-0.231
C17orf112-0.226
ADAM18-0.208
OXT-0.201
LCN1-0.191
HMHB1-0.189

Drugs/Compounds

    There is no DrugBank record for this gene !

ID Drug Name Action PubMed
D000082AcetaminophenAcetaminophen results in decreased expression of SPG11 mRNA21420995
D000082AcetaminophenAcetaminophen affects the expression of SPG11 mRNA17562736
D016604Aflatoxin B1Aflatoxin B1 results in increased methylation of SPG11 gene27153756
D000393Air PollutantsAir Pollutants analog results in decreased expression of SPG11 mRNA21757418
C044887beta-methylcholinebeta-methylcholine affects the expression of SPG11 mRNA21179406
C018475butyraldehydebutyraldehyde results in decreased expression of SPG11 mRNA26079696
D019327Copper SulfateCopper Sulfate results in decreased expression of SPG11 mRNA19549813
D003993Dibutyl PhthalateDibutyl Phthalate results in decreased expression of SPG11 mRNA21266533
C045651epigallocatechin gallate[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of SPG11 mRNA22079256
D005038EthylnitrosoureaEthylnitrosourea results in increased mutagenesis of SPG11 mRNA27776689
C410337K 7174K 7174 results in increased expression of SPG11 mRNA24086573
D007854LeadLead affects the expression of SPG11 mRNA28903495
D008727MethotrexateMethotrexate affects the expression of SPG11 mRNA24449571
D008741Methyl MethanesulfonateMethyl Methanesulfonate results in increased expression of SPG11 mRNA23649840
D010936Plant ExtractsPlant Extracts results in increased expression of SPG11 mRNA23557933
C027373potassium chromate(VI)[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of SPG11 mRNA22079256
C027373potassium chromate(VI)potassium chromate(VI) results in decreased expression of SPG11 mRNA22079256|2271453
C017947sodium arsenitesodium arsenite results in decreased expression of SPG11 mRNA28595984
D019284ThapsigarginThapsigargin results in increased expression of SPG11 protein24648495
D014028Tobacco Smoke PollutionTobacco Smoke Pollution results in decreased expression of SPG11 mRNA28065790
D014520UrethaneUrethane results in decreased expression of SPG11 mRNA28818685
C025643vinclozolinvinclozolin results in increased expression of SPG11 mRNA23034163

GO/Pathway

GO ID GO Term Qualifier Evidence PubMed
GO:0005515protein binding-IPI20613862  25416956  
GO ID GO Term Qualifier Evidence PubMed
GO:0007268chemical synaptic transmission-IMP24794856  
GO:0008088axo-dendritic transport-IMP24794856  
GO:0048489synaptic vesicle transport-IMP24794856  
GO:0048675axon extension-IEA-  
GO:0090389phagosome-lysosome fusion involved in apoptotic cell clearance-IEA-  
GO:0090659walking behavior-IEA-  
GO ID GO Term Qualifier Evidence PubMed
GO:0005730nucleolus-IDA-  
GO:0005737cytoplasm-IDA21545838  
GO:0005765lysosomal membrane-HDA17897319  
GO:0005829cytosol-IDA-  
GO:0005829cytosol-ISS-  
GO:0005886plasma membrane-IDA-  
GO:0030424axon-IEA-  
GO:0030425dendrite-IEA-  
GO:0031410cytoplasmic vesicle-IDA21545838  
GO:0045202synapse-IDA24794856  
KEGG ID KEGG Term
Reactome ID Reactome Term Evidence

Interactions (STRING v10.5, Interaction Score >= 0.400)

Publications (Co-occurrence of gene symbol strings and ANCO-Dependence terms)

PMID Title (Year) Author Journal