Summary ?
GeneID5863
SymbolRGL2
SynonymsHKE1.5|KE1.5|RAB2L
Descriptionral guanine nucleotide dissociation stimulator like 2
ReferenceMIM:602306|HGNC:HGNC:9769|Ensembl:ENSG00000237441|HPRD:03810|Vega:OTTHUMG00000031072
Gene typeprotein-coding
Map location6p21.3
Pascal p-value5.614E-6
Sherlock p-value0.798
SupportCompositeSet

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DNM:Fromer_2014Whole Exome Sequencing analysisThis study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
GSMA_IGenome scan meta-analysisPsr: 0.033 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
RGL2chr633264213CTNM_001243738
NM_004761
p.68D>N
p.150D>N
missense
missense
SchizophreniaDNM:Fromer_2014


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

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 activityIEA-
GO:0005085guanyl-nucleotide exchange factor activityNAS-
GO:0005088Ras guanyl-nucleotide exchange factor activityNAS8976381 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0007265Ras protein signal transductionNAS8976381 
GO:0007165signal transductionIEA-
GO:0007264small GTPase mediated signal transductionIEA-
GO:0051056regulation of small GTPase mediated signal transductionIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005575cellular_componentND-
GO:0005622intracellularIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
NAKAMURA TUMOR ZONE PERIPHERAL VS CENTRAL DN 634384All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS BASAL UP 380215All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS MESENCHYMAL UP 450256All SZGR 2.0 genes in this pathway
BOGNI TREATMENT RELATED MYELOID LEUKEMIA DN 3319All SZGR 2.0 genes in this pathway
CREIGHTON AKT1 SIGNALING VIA MTOR DN 2316All SZGR 2.0 genes in this pathway
FRIDMAN SENESCENCE UP 7760All SZGR 2.0 genes in this pathway
BENPORATH MYC MAX TARGETS 775494All SZGR 2.0 genes in this pathway
BYSTRYKH HEMATOPOIESIS STEM CELL QTL TRANS 882572All SZGR 2.0 genes in this pathway
HSIAO LIVER SPECIFIC GENES 244154All SZGR 2.0 genes in this pathway
YU MYC TARGETS DN 5538All SZGR 2.0 genes in this pathway
MA MYELOID DIFFERENTIATION UP 3929All SZGR 2.0 genes in this pathway
JAZAERI BREAST CANCER BRCA1 VS BRCA2 DN 4331All SZGR 2.0 genes in this pathway
DANG BOUND BY MYC 1103714All SZGR 2.0 genes in this pathway
LI INDUCED T TO NATURAL KILLER DN 11683All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-1284014081A,m8hsa-miR-128aUCACAGUGAACCGGUCUCUUUU
hsa-miR-128bUCACAGUGAACCGGUCUCUUUC
miR-142-3p432438m8hsa-miR-142-3pUGUAGUGUUUCCUACUUUAUGGA
miR-196434440m8hsa-miR-196aUAGGUAGUUUCAUGUUGUUGG
hsa-miR-196bUAGGUAGUUUCCUGUUGUUGG
miR-24324330m8hsa-miR-24SZUGGCUCAGUUCAGCAGGAACAG
miR-27402408m8hsa-miR-27abrainUUCACAGUGGCUAAGUUCCGC
hsa-miR-27bbrainUUCACAGUGGCUAAGUUCUGC