Gene Page: ASAP2

Summary ?
GeneID8853
SymbolASAP2
SynonymsAMAP2|CENTB3|DDEF2|PAG3|PAP|Pap-alpha|SHAG1
DescriptionArfGAP with SH3 domain, ankyrin repeat and PH domain 2
ReferenceMIM:603817|HGNC:HGNC:2721|Ensembl:ENSG00000151693|HPRD:04820|Vega:OTTHUMG00000117485
Gene typeprotein-coding
Map location2p25|2p24
Pascal p-value0.048
Sherlock p-value0.576
TADA p-value0.019
Fetal beta0.579
DMG1 (# studies)
eGeneMyers' cis & trans

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
DNM:Gulsuner_2013Whole Exome Sequencing analysis155 DNMs identified by exome sequencing of quads or trios of schizophrenia individuals and their parents.

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
ASAP2chr29517076GANM_001135191
NM_003887		p.596V>M
p.596V>M		missense
missense		SchizophreniaDNM:Gulsuner_2013

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg0342447829346387ASAP23.85E-8-0.0151.1E-5DMG:Jaffe_2016

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs9368942chr636566512ASAP288530.12trans
rs9366911chr636589339ASAP288530.07trans
rs7972594chr1211724913ASAP288530.2trans
rs10491979chr1211727969ASAP288530.2trans

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
ZEB10.770.75
SPAG90.760.73
BMS10.750.73
HDLBP0.750.73
ZNF6640.750.69
LRBA0.750.74
B3GALNT20.750.74
NBR10.740.73
CDYL0.740.71
PDCD40.740.73
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
AF347015.21-0.57-0.47
C1orf54-0.54-0.48
VAMP5-0.51-0.45
IFI27-0.50-0.45
AF347015.31-0.50-0.45
IL32-0.50-0.46
MYL3-0.49-0.45
MT-CO2-0.49-0.43
SYCP3-0.49-0.38
ENHO-0.48-0.49

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
ARF1-ADP-ribosylation factor 1-HPRD10022920 |10749932 
ARF5-ADP-ribosylation factor 5-HPRD10022920 |10749932 
ARF6DKFZp564M0264ADP-ribosylation factor 6-HPRD10022920 |10749932 
ITSN1ITSN | MGC134948 | MGC134949 | SH3D1A | SH3P17intersectin 1 (SH3 domain protein)DDEF2 (AMAP2) interacts with an unspecified isoform of ITSN1 (Intersectin1).BIND15719014 
PACSIN3SDPIIIprotein kinase C and casein kinase substrate in neurons 3DDEF2 (AMAP2) interacts with PACSIN3.BIND15719014 
PTK2BCADTK | CAKB | FADK2 | FAK2 | FRNK | PKB | PTK | PYK2 | RAFTKPTK2B protein tyrosine kinase 2 beta-HPRD,BioGRID10022920 
PXNFLJ16691paxillinin vitro
Reconstituted Complex		BioGRID10749932 |12149250 
PXNFLJ16691paxillin-HPRD10749932|12149250 
RANARA24 | Gsp1 | TC4RAN, member RAS oncogene family-HPRD10022920 
SH3KBP1CIN85 | GIG10 | MIG18SH3-domain kinase binding protein 1DDEF2 (AMAP2) interacts with SH3KBP1 (CIN85).BIND15719014 
SRCASV | SRC1 | c-SRC | p60-Srcv-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian)Affinity Capture-WesternBioGRID10022920 
TBRG4CPR2 | FASTKD4 | KIAA0948transforming growth factor beta regulator 4Affinity Capture-MSBioGRID17353931 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG ENDOCYTOSIS 183132All SZGR 2.0 genes in this pathway
KEGG FC GAMMA R MEDIATED PHAGOCYTOSIS 9771All SZGR 2.0 genes in this pathway
BIOCARTA ARAP PATHWAY 1813All SZGR 2.0 genes in this pathway
PID ARF6 TRAFFICKING PATHWAY 4934All SZGR 2.0 genes in this pathway
ONKEN UVEAL MELANOMA UP 783507All SZGR 2.0 genes in this pathway
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA UP 1382904All SZGR 2.0 genes in this pathway
RHEIN ALL GLUCOCORTICOID THERAPY DN 362238All SZGR 2.0 genes in this pathway
XU HGF SIGNALING NOT VIA AKT1 6HR 2615All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 DN 855609All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 COMMON DN 483336All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT REJECTED VS OK DN 546351All SZGR 2.0 genes in this pathway
HADDAD T LYMPHOCYTE AND NK PROGENITOR UP 7856All SZGR 2.0 genes in this pathway
DAZARD RESPONSE TO UV SCC DN 12386All SZGR 2.0 genes in this pathway
BILD SRC ONCOGENIC SIGNATURE 6238All SZGR 2.0 genes in this pathway
ACEVEDO LIVER CANCER UP 973570All SZGR 2.0 genes in this pathway
ACEVEDO LIVER TUMOR VS NORMAL ADJACENT TISSUE UP 863514All SZGR 2.0 genes in this pathway
CHIANG LIVER CANCER SUBCLASS CTNNB1 UP 176110All SZGR 2.0 genes in this pathway
SETLUR PROSTATE CANCER TMPRSS2 ERG FUSION UP 6748All SZGR 2.0 genes in this pathway
GYORFFY DOXORUBICIN RESISTANCE 5634All SZGR 2.0 genes in this pathway
CAIRO HEPATOBLASTOMA UP 207143All SZGR 2.0 genes in this pathway
WIERENGA STAT5A TARGETS DN 213127All SZGR 2.0 genes in this pathway
KRIEG HYPOXIA NOT VIA KDM3A 770480All SZGR 2.0 genes in this pathway
ZWANG CLASS 3 TRANSIENTLY INDUCED BY EGF 222159All SZGR 2.0 genes in this pathway