Summary ?
GeneID8470
SymbolSORBS2
SynonymsARGBP2|PRO0618
Descriptionsorbin and SH3 domain containing 2
ReferenceMIM:616349|HGNC:HGNC:24098|Ensembl:ENSG00000154556|HPRD:12473|Vega:OTTHUMG00000157215
Gene typeprotein-coding
Map location4q35.1
Pascal p-value0.811
Sherlock p-value0.006
Fetal beta2.763
SupportG2Cdb.humanPSD
G2Cdb.humanPSP
CompositeSet
Darnell 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
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
SORBS2chr4186544420CANM_001145670
NM_001145671
NM_001145672
NM_001145673
NM_001145674
NM_001145675
NM_001270771
NM_003603
NM_021069
.
.
.
.
p.621Q>H
.
p.817Q>H
.
p.717Q>H
intronic
intronic
intronic
intronic
missense
intronic
missense
intronic
missense
SchizophreniaDNM:Fromer_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
MATK0.890.90
PIN10.850.85
FDX1L0.850.88
PARD6A0.840.86
SH3GLB20.840.88
ST6GALNAC60.840.86
GNG30.840.88
KIF120.830.76
RPS19BP10.830.82
FAM131A0.830.86
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
MAP4K4-0.52-0.52
AC005035.1-0.49-0.49
GPR125-0.48-0.48
THOC2-0.47-0.47
ZNF652-0.47-0.42
PHF16-0.46-0.40
FAM107B-0.46-0.40
EIF5B-0.46-0.56
CWF19L2-0.45-0.59
ATAD2B-0.45-0.42

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
ABL1ABL | JTK7 | bcr/abl | c-ABL | p150 | v-ablc-abl oncogene 1, receptor tyrosine kinase-HPRD,BioGRID9211900 |12475393 
ABL2ABLL | ARG | FLJ22224 | FLJ31718 | FLJ41441v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)-HPRD,BioGRID9211900 
CBLC-CBL | CBL2 | RNF55Cas-Br-M (murine) ecotropic retroviral transforming sequenceAffinity Capture-Western
Reconstituted Complex
Two-hybrid
BioGRID12475393 |15128873 
CBLC-CBL | CBL2 | RNF55Cas-Br-M (murine) ecotropic retroviral transforming sequenceArgBP2 interacts with Cbl.BIND15128873 
CBLC-CBL | CBL2 | RNF55Cas-Br-M (murine) ecotropic retroviral transforming sequenceArgBP2-A interacts with Cbl.BIND12475393 
DLGAP1DAP-1 | DAP-1-ALPHA | DAP-1-BETA | GKAP | MGC88156 | SAPAP1 | hGKAPdiscs, large (Drosophila) homolog-associated protein 1-HPRD,BioGRID10521485 
DLGAP2DAP2 | SAPAP2discs, large (Drosophila) homolog-associated protein 2-HPRD10521485 
DLGAP4DAP4 | KIAA0964 | MGC131862 | RP5-977B1.6 | SAPAP4discs, large (Drosophila) homolog-associated protein 4-HPRD,BioGRID10521485 
FLOT1-flotillin 1ArgBP2 interacts with flotillin-1. This interaction was modeled on a demonstrated interaction between human ArgBP2 and flotillin-1 from an unspecified species.BIND15128873 
FLOT1-flotillin 1nArgBP2 interacts with flotillin-1. This interaction was modeled on a demonstrated interaction between rat nArgBP2 and flotillin-1 from an unspecified species.BIND15128873 
FLOT1-flotillin 1-HPRD,BioGRID15128873 
MLLT4AF-6 | AF6 | AFADIN | FLJ34371 | RP3-431P23.3myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4-HPRD,BioGRID10521485 
PKM2CTHBP | MGC3932 | OIP3 | PK3 | PKM | TCB | THBP1pyruvate kinase, muscle-HPRD15128873 
PTK2BCADTK | CAKB | FADK2 | FAK2 | FRNK | PKB | PTK | PYK2 | RAFTKPTK2B protein tyrosine kinase 2 betaArgBP2 interacts with Pyk2.BIND15128873 
PTK2BCADTK | CAKB | FADK2 | FAK2 | FRNK | PKB | PTK | PYK2 | RAFTKPTK2B protein tyrosine kinase 2 beta-HPRD,BioGRID15128873 
RPL9DKFZp313J1510 | FLJ27456 | MGC15545 | NPC-A-16ribosomal protein L9Two-hybridBioGRID16169070 
SEMA6AHT018 | KIAA1368 | SEMA | SEMA6A1 | SEMAQ | VIAsema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A-HPRD12421765 
SFNYWHASstratifinAffinity Capture-MSBioGRID15778465 
TRAF4CART1 | MLN62 | RNF83TNF receptor-associated factor 4TRAF4 interacts with ArgBP2.BIND12023963 
VCLCMD1W | MVCLvinculin-HPRD,BioGRID10521485 
YWHAE14-3-3E | FLJ45465 | KCIP-1 | MDCR | MDStyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptideTwo-hybridBioGRID16189514 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
SENGUPTA NASOPHARYNGEAL CARCINOMA DN 349157All SZGR 2.0 genes in this pathway
TURASHVILI BREAST DUCTAL CARCINOMA VS DUCTAL NORMAL DN 198110All SZGR 2.0 genes in this pathway
CHANDRAN METASTASIS TOP50 DN 4526All SZGR 2.0 genes in this pathway
ZHOU INFLAMMATORY RESPONSE LIVE DN 384220All SZGR 2.0 genes in this pathway
THUM SYSTOLIC HEART FAILURE DN 244147All SZGR 2.0 genes in this pathway
WIKMAN ASBESTOS LUNG CANCER UP 1711All SZGR 2.0 genes in this pathway
VECCHI GASTRIC CANCER EARLY DN 367220All SZGR 2.0 genes in this pathway
GARGALOVIC RESPONSE TO OXIDIZED PHOSPHOLIPIDS GREY DN 7444All SZGR 2.0 genes in this pathway
ODONNELL TFRC TARGETS UP 456228All SZGR 2.0 genes in this pathway
ODONNELL TARGETS OF MYC AND TFRC UP 8350All SZGR 2.0 genes in this pathway
SENESE HDAC1 AND HDAC2 TARGETS UP 238144All SZGR 2.0 genes in this pathway
LEE NEURAL CREST STEM CELL DN 11879All SZGR 2.0 genes in this pathway
ZHOU INFLAMMATORY RESPONSE FIMA UP 544308All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA UP 1821933All SZGR 2.0 genes in this pathway
DELYS THYROID CANCER DN 232154All SZGR 2.0 genes in this pathway
GAUSSMANN MLL AF4 FUSION TARGETS E UP 9760All SZGR 2.0 genes in this pathway
PEREZ TP53 TARGETS 1174695All SZGR 2.0 genes in this pathway
KIM MYC AMPLIFICATION TARGETS DN 9751All SZGR 2.0 genes in this pathway
RICKMAN HEAD AND NECK CANCER D 3714All SZGR 2.0 genes in this pathway
ASTON MAJOR DEPRESSIVE DISORDER DN 160110All SZGR 2.0 genes in this pathway
LEE LIVER CANCER ACOX1 UP 6440All SZGR 2.0 genes in this pathway
MANALO HYPOXIA UP 207145All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE DN 1237837All SZGR 2.0 genes in this pathway
WANG SMARCE1 TARGETS DN 371218All SZGR 2.0 genes in this pathway
BANDRES RESPONSE TO CARMUSTIN MGMT 24HR DN 3321All SZGR 2.0 genes in this pathway
KAAB HEART ATRIUM VS VENTRICLE DN 261183All SZGR 2.0 genes in this pathway
MCLACHLAN DENTAL CARIES DN 245144All SZGR 2.0 genes in this pathway
XU GH1 EXOGENOUS TARGETS DN 12069All SZGR 2.0 genes in this pathway
BANDRES RESPONSE TO CARMUSTIN MGMT 48HR DN 161105All SZGR 2.0 genes in this pathway
MARIADASON RESPONSE TO BUTYRATE SULINDAC 6 5232All SZGR 2.0 genes in this pathway
MCCABE BOUND BY HOXC6 469239All SZGR 2.0 genes in this pathway
VICENT METASTASIS UP 1411All SZGR 2.0 genes in this pathway
MITSIADES RESPONSE TO APLIDIN UP 439257All SZGR 2.0 genes in this pathway
IZADPANAH STEM CELL ADIPOSE VS BONE DN 10868All SZGR 2.0 genes in this pathway
WEST ADRENOCORTICAL TUMOR DN 546362All SZGR 2.0 genes in this pathway
HUANG DASATINIB RESISTANCE DN 6944All SZGR 2.0 genes in this pathway
POOLA INVASIVE BREAST CANCER DN 13483All SZGR 2.0 genes in this pathway
BOYAULT LIVER CANCER SUBCLASS G3 DN 5132All SZGR 2.0 genes in this pathway
CHIANG LIVER CANCER SUBCLASS PROLIFERATION DN 17997All SZGR 2.0 genes in this pathway
CHIANG LIVER CANCER SUBCLASS UNANNOTATED UP 8550All SZGR 2.0 genes in this pathway
COULOUARN TEMPORAL TGFB1 SIGNATURE DN 13899All SZGR 2.0 genes in this pathway
CHANDRAN METASTASIS DN 306191All SZGR 2.0 genes in this pathway
FORTSCHEGGER PHF8 TARGETS UP 279155All SZGR 2.0 genes in this pathway
LIM MAMMARY STEM CELL DN 428246All SZGR 2.0 genes in this pathway
LIM MAMMARY LUMINAL PROGENITOR UP 5830All SZGR 2.0 genes in this pathway