Gene Page: CHMP2A

Summary ?
GeneID27243
SymbolCHMP2A
SynonymsBC-2|BC2|CHMP2|VPS2|VPS2A
Descriptioncharged multivesicular body protein 2A
ReferenceMIM:610893|HGNC:HGNC:30216|Ensembl:ENSG00000130724|HPRD:12520|Vega:OTTHUMG00000183547
Gene typeprotein-coding
Map location19q
Pascal p-value0.003
Sherlock p-value0.224
TADA p-value0.008
Fetal beta-0.705
eGeneCerebellum
Myers' cis & trans
SupportCompositeSet

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DMG:Wockner_2014Genome-wide DNA methylation analysisThis dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). 1
DNM:Fromer_2014Whole Exome Sequencing analysisThis study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
CHMP2Achr1959063665CTNM_014453
NM_198426		p.103M>I
p.103M>I		missense
missense		SchizophreniaDNM:Fromer_2014

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg216185491959067270CHMP2A;UBE2M3.746E-40.3340.043DMG:Wockner_2014

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs10409262chr1958154954CHMP2A272430.09cis
rs2948491chrX40180688CHMP2A272430.18trans

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 V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG ENDOCYTOSIS 183132All SZGR 2.0 genes in this pathway
REACTOME MEMBRANE TRAFFICKING 12974All SZGR 2.0 genes in this pathway
REACTOME ENDOSOMAL SORTING COMPLEX REQUIRED FOR TRANSPORT ESCRT 2715All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS MESENCHYMAL UP 450256All SZGR 2.0 genes in this pathway
ENK UV RESPONSE KERATINOCYTE UP 530342All SZGR 2.0 genes in this pathway
BERENJENO TRANSFORMED BY RHOA DN 394258All SZGR 2.0 genes in this pathway
FARMER BREAST CANCER BASAL VS LULMINAL 330215All SZGR 2.0 genes in this pathway
YANG BREAST CANCER ESR1 LASER UP 3425All SZGR 2.0 genes in this pathway
SASAKI ADULT T CELL LEUKEMIA 176122All SZGR 2.0 genes in this pathway
PENG RAPAMYCIN RESPONSE UP 203130All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE DN 1237837All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 20HR DN 10170All SZGR 2.0 genes in this pathway
ELLWOOD MYC TARGETS DN 4027All SZGR 2.0 genes in this pathway
YAO TEMPORAL RESPONSE TO PROGESTERONE CLUSTER 13 172107All SZGR 2.0 genes in this pathway
MARTENS TRETINOIN RESPONSE DN 841431All SZGR 2.0 genes in this pathway
KIM ALL DISORDERS OLIGODENDROCYTE NUMBER CORR UP 756494All SZGR 2.0 genes in this pathway
KIM ALL DISORDERS DURATION CORR DN 14690All SZGR 2.0 genes in this pathway
LI DCP2 BOUND MRNA 8957All SZGR 2.0 genes in this pathway
JUBAN TARGETS OF SPI1 AND FLI1 UP 11573All SZGR 2.0 genes in this pathway
KUMAR PATHOGEN LOAD BY MACROPHAGES 275155All SZGR 2.0 genes in this pathway