Gene Page: AP2A2

Summary ?
GeneID161
SymbolAP2A2
SynonymsADTAB|CLAPA2|HIP-9|HIP9|HYPJ
Descriptionadaptor related protein complex 2 alpha 2 subunit
ReferenceMIM:607242|HGNC:HGNC:562|Ensembl:ENSG00000183020|HPRD:06256|Vega:OTTHUMG00000165627
Gene typeprotein-coding
Map location11p15.5
Pascal p-value0.351
Sherlock p-value0.886
Fetal beta-0.558
DMG1 (# studies)
eGeneMeta
SupportENDOCYTOSIS
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS
G2Cdb.human_clathrin
G2Cdb.human_Synaptosome
CompositeSet
Darnell FMRP targets
Ascano FMRP targets

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:GWASdbGenome-wide Association StudiesGWASdb records for schizophrenia
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). 4
DNM:Xu_2012Whole Exome Sequencing analysisDe novo mutations of 4 genes were identified by exome sequencing of 795 samples in this study

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
AP2A2chr11972194GANM_001242837
NM_012305		p.138V>M
p.138V>M		missense
missense		SchizophreniaDNM:Xu_2012

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg27402845111000533AP2A27.95E-50.3420.025DMG:Wockner_2014
cg2022902511971902AP2A21.118E-40.7570.029DMG:Wockner_2014
cg2214363511980567AP2A21.306E-40.4050.03DMG:Wockner_2014
cg2155197911972057AP2A23.664E-40.6730.042DMG:Wockner_2014


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.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
POLR3A0.960.97
MARCH60.960.97
WDR360.950.97
CCNT10.950.96
DYRK1A0.950.97
DCTN40.950.97
C4orf410.950.96
WDR260.950.96
COG30.950.96
PPP1R15B0.950.96
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
FXYD1-0.80-0.86
AF347015.31-0.79-0.86
MT-CO2-0.78-0.86
HIGD1B-0.77-0.86
IFI27-0.76-0.84
AF347015.33-0.76-0.82
AF347015.8-0.74-0.84
MT-CYB-0.74-0.82
HSD17B14-0.74-0.78
AF347015.27-0.74-0.82

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
AMPHAMPH1amphiphysinReconstituted ComplexBioGRID9280305 
AP1S1AP19 | CLAPS1 | FLJ92436 | SIGMA1A | WUGSC:H_DJ0747G18.2adaptor-related protein complex 1, sigma 1 subunit-HPRD11707398 
AP2B1ADTB2 | AP105B | AP2-BETA | CLAPB1 | DKFZp781K0743adaptor-related protein complex 2, beta 1 subunit-HPRD12086608 
ATMAT1 | ATA | ATC | ATD | ATDC | ATE | DKFZp781A0353 | MGC74674 | TEL1 | TELO1ataxia telangiectasia mutatedProtein-peptideBioGRID10608806 
ATRFRP1 | MEC1 | SCKL | SCKL1ataxia telangiectasia and Rad3 relatedProtein-peptideBioGRID10608806 
BIN1AMPH2 | AMPHL | DKFZp547F068 | MGC10367 | SH3P9bridging integrator 1-HPRD10430869 
CLTCCHC | CHC17 | CLH-17 | CLTCL2 | Hc | KIAA0034clathrin, heavy chain (Hc)Reconstituted ComplexBioGRID9280305 
DAB2DOC-2 | DOC2 | FLJ26626disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)Affinity Capture-WesternBioGRID11247302 
DNAJC6DJC6 | KIAA0473 | MGC129914 | MGC129915 | MGC48436DnaJ (Hsp40) homolog, subfamily C, member 6-HPRD11470803 
DNM1DNMdynamin 1-HPRD10430869 
EPN1-epsin 1Affinity Capture-Western
Reconstituted Complex		BioGRID9723620 
EPS15AF-1P | AF1P | MLLT5epidermal growth factor receptor pathway substrate 15-HPRD9049247 
EPS15AF-1P | AF1P | MLLT5epidermal growth factor receptor pathway substrate 15Reconstituted ComplexBioGRID10809762 
HTTHD | IT15huntingtinTwo-hybridBioGRID9700202 
RALBP1RIP1 | RLIP1 | RLIP76ralA binding protein 1RLIP76 interacts with alpha-adaptin.BIND10910768 
SHC1FLJ26504 | SHC | SHCASHC (Src homology 2 domain containing) transforming protein 1-HPRD,BioGRID8617812 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG ENDOCYTOSIS 183132All SZGR 2.0 genes in this pathway
KEGG HUNTINGTONS DISEASE 185109All SZGR 2.0 genes in this pathway
REACTOME SIGNALLING BY NGF 217167All SZGR 2.0 genes in this pathway
REACTOME DEVELOPMENTAL BIOLOGY 396292All SZGR 2.0 genes in this pathway
REACTOME NEF MEDIATES DOWN MODULATION OF CELL SURFACE RECEPTORS BY RECRUITING THEM TO CLATHRIN ADAPTERS 2112All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY EGFR IN CANCER 10980All SZGR 2.0 genes in this pathway
REACTOME NGF SIGNALLING VIA TRKA FROM THE PLASMA MEMBRANE 137105All SZGR 2.0 genes in this pathway
REACTOME MHC CLASS II ANTIGEN PRESENTATION 9161All SZGR 2.0 genes in this pathway
REACTOME RETROGRADE NEUROTROPHIN SIGNALLING 137All SZGR 2.0 genes in this pathway
REACTOME EGFR DOWNREGULATION 2514All SZGR 2.0 genes in this pathway
REACTOME TRANSMISSION ACROSS CHEMICAL SYNAPSES 186155All SZGR 2.0 genes in this pathway
REACTOME NEURONAL SYSTEM 279221All SZGR 2.0 genes in this pathway
REACTOME NEUROTRANSMITTER RECEPTOR BINDING AND DOWNSTREAM TRANSMISSION IN THE POSTSYNAPTIC CELL 137110All SZGR 2.0 genes in this pathway
REACTOME AXON GUIDANCE 251188All SZGR 2.0 genes in this pathway
REACTOME TRAFFICKING OF AMPA RECEPTORS 2823All SZGR 2.0 genes in this pathway
REACTOME TRAFFICKING OF GLUR2 CONTAINING AMPA RECEPTORS 1611All SZGR 2.0 genes in this pathway
REACTOME L1CAM INTERACTIONS 8662All SZGR 2.0 genes in this pathway
REACTOME SIGNAL TRANSDUCTION BY L1 3425All SZGR 2.0 genes in this pathway
REACTOME RECYCLING PATHWAY OF L1 2715All SZGR 2.0 genes in this pathway
REACTOME HIV INFECTION 207122All SZGR 2.0 genes in this pathway
REACTOME HOST INTERACTIONS OF HIV FACTORS 13281All SZGR 2.0 genes in this pathway
REACTOME THE ROLE OF NEF IN HIV1 REPLICATION AND DISEASE PATHOGENESIS 2819All SZGR 2.0 genes in this pathway
REACTOME IMMUNE SYSTEM 933616All SZGR 2.0 genes in this pathway
REACTOME ADAPTIVE IMMUNE SYSTEM 539350All SZGR 2.0 genes in this pathway
PARENT MTOR SIGNALING UP 567375All SZGR 2.0 genes in this pathway
FULCHER INFLAMMATORY RESPONSE LECTIN VS LPS DN 463290All SZGR 2.0 genes in this pathway
BUYTAERT PHOTODYNAMIC THERAPY STRESS DN 637377All SZGR 2.0 genes in this pathway
GOTZMANN EPITHELIAL TO MESENCHYMAL TRANSITION DN 206136All SZGR 2.0 genes in this pathway
STARK HYPPOCAMPUS 22Q11 DELETION UP 5340All SZGR 2.0 genes in this pathway
WANG PROSTATE CANCER ANDROGEN INDEPENDENT 6637All SZGR 2.0 genes in this pathway
LEI MYB TARGETS 318215All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS MATURE CELL 293160All SZGR 2.0 genes in this pathway
RAMALHO STEMNESS DN 7455All SZGR 2.0 genes in this pathway
MARSON BOUND BY FOXP3 UNSTIMULATED 1229713All SZGR 2.0 genes in this pathway
WANG TUMOR INVASIVENESS DN 210128All SZGR 2.0 genes in this pathway
MILI PSEUDOPODIA CHEMOTAXIS DN 457302All SZGR 2.0 genes in this pathway
MILI PSEUDOPODIA HAPTOTAXIS DN 668419All SZGR 2.0 genes in this pathway
WANG METASTASIS OF BREAST CANCER ESR1 DN 3018All SZGR 2.0 genes in this pathway
FEVR CTNNB1 TARGETS UP 682433All SZGR 2.0 genes in this pathway
DELACROIX RARG BOUND MEF 367231All SZGR 2.0 genes in this pathway