Gene Page: ALS2

Summary ?
GeneID57679
SymbolALS2
SynonymsALS2CR6|ALSJ|IAHSP|PLSJ
DescriptionALS2, alsin Rho guanine nucleotide exchange factor
ReferenceMIM:606352|HGNC:HGNC:443|Ensembl:ENSG00000003393|HPRD:05893|Vega:OTTHUMG00000154507
Gene typeprotein-coding
Map location2q33.1
Pascal p-value0.128
Sherlock p-value0.107
Fetal beta0.228
DMG1 (# studies)
eGeneMyers' cis & trans
SupportCompositeSet
Darnell FMRP targets
Ascano FMRP targets

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DMG:Jaffe_2016Genome-wide DNA methylation analysisThis dataset includes 2,104 probes/CpGs associated with SZ patients (n=108) compared to 136 controls at Bonferroni-adjusted P < 0.05. 1
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 5 

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg018131652202646406ALS28.85E-9-0.0214.06E-6DMG:Jaffe_2016

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs16829545chr2151977407ALS2576790.01trans
rs3845734chr2171125572ALS2576790.13trans
rs7584986chr2184111432ALS2576790.01trans
rs16955618chr1529937543ALS2576797.551E-7trans
rs1041786chr2122617710ALS2576790.02trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (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 the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0005085guanyl-nucleotide exchange factor activityIDA15247254 
GO:0005087Ran guanyl-nucleotide exchange factor activityNAS11586298 
GO:0005515protein bindingIPI17239822 
GO:0017112Rab guanyl-nucleotide exchange factor activityIDA12837691 
GO:0017137Rab GTPase bindingIDA15247254 
GO:0017137Rab GTPase bindingNAS16670179 
GO:0042803protein homodimerization activityIPI15247254 
GO:0030676Rac guanyl-nucleotide exchange factor activityIDA16049005 
GO:0043539protein serine/threonine kinase activator activityIDA16049005 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0007528neuromuscular junction developmentIEASynap (GO term level: 10)-
GO:0035249synaptic transmission, glutamatergicIEAneuron, glutamate, Synap, Neurotransmitter (GO term level: 8)-
GO:0048812neurite morphogenesisIDAneuron, axon, neurite, dendrite (GO term level: 11)16049005 
GO:0001662behavioral fear responseIEA-
GO:0001881receptor recyclingIEA-
GO:0016050vesicle organizationIEA-
GO:0007626locomotory behaviorIEA-
GO:0008104protein localizationIEA-
GO:0006979response to oxidative stressIEA-
GO:0007032endosome organizationNAS12837691 
GO:0016197endosome transportIEA-
GO:0035022positive regulation of Rac protein signal transductionIC16049005 
GO:0035023regulation of Rho protein signal transductionIEA-
GO:0051036regulation of endosome sizeIEP15247254 
GO:0032313regulation of Rab GTPase activityIEA-
GO:0032855positive regulation of Rac GTPase activityIDA16049005 
GO:0045860positive regulation of protein kinase activityIDA16049005 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0014069postsynaptic densityIEASynap (GO term level: 10)-
GO:0043197dendritic spineIEASynap, dendrite (GO term level: 7)-
GO:0001726ruffleISS-
GO:0005813centrosomeIDA16085057 
GO:0005829cytosolIDA12837691 
GO:0005622intracellularIEA-
GO:0005737cytoplasmIEA-
GO:0005769early endosomeIDA12837691 
GO:0030027lamellipodiumISS-
GO:0042598vesicular fractionIDA12837691 
GO:0043234protein complexIDA15247254 

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG AMYOTROPHIC LATERAL SCLEROSIS ALS 5343All SZGR 2.0 genes in this pathway
GRAESSMANN RESPONSE TO MC AND DOXORUBICIN UP 612367All SZGR 2.0 genes in this pathway
RICKMAN METASTASIS UP 344180All SZGR 2.0 genes in this pathway
KOYAMA SEMA3B TARGETS DN 411249All SZGR 2.0 genes in this pathway
MATSUDA NATURAL KILLER DIFFERENTIATION 475313All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS EARLY PROGENITOR 532309All SZGR 2.0 genes in this pathway
KEEN RESPONSE TO ROSIGLITAZONE UP 3823All SZGR 2.0 genes in this pathway
YAUCH HEDGEHOG SIGNALING PARACRINE DN 264159All SZGR 2.0 genes in this pathway
COULOUARN TEMPORAL TGFB1 SIGNATURE UP 10968All SZGR 2.0 genes in this pathway
MARSON FOXP3 TARGETS DN 5438All SZGR 2.0 genes in this pathway
GABRIELY MIR21 TARGETS 289187All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE LATE 1137655All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-142-5p120412111A,m8hsa-miR-142-5pCAUAAAGUAGAAAGCACUAC
miR-14412341240m8hsa-miR-144UACAGUAUAGAUGAUGUACUAG
miR-1997227291A,m8hsa-miR-199aCCCAGUGUUCAGACUACCUGUUC
hsa-miR-199bCCCAGUGUUUAGACUAUCUGUUC
miR-264484551A,m8hsa-miR-26abrainUUCAAGUAAUCCAGGAUAGGC
hsa-miR-26bSZUUCAAGUAAUUCAGGAUAGGUU
miR-50587941A,m8hsa-miR-505GUCAACACUUGCUGGUUUCCUC
miR-54312451251m8hsa-miR-543AAACAUUCGCGGUGCACUUCU