AutismKB 2.0

Annotation Details for ARHGEF2


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Basic Information Top
Gene Symbol:ARHGEF2 ( DKFZp547L106,DKFZp547P1516,FLJ45440,GEF,GEF-H1,GEFH1,KIAA0651,LFP40,P40 )
Gene Full Name: Rho/Rac guanine nucleotide exchange factor (GEF) 2
Band: 1q22
Quick LinksEntrez ID:9181; OMIM: 607560; Uniprot ID:ARHG2_HUMAN; ENSEMBL ID: ENSG00000116584; HGNC ID: 682
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0002102IEA-podosome-
GO:0005737IDA-cytoplasm21887730
GO:0005794IEA-Golgi apparatus-
GO:0005819IEA-spindle-
GO:0005829TAS-cytosol-
GO:0005856IDA-cytoskeleton21887730
GO:0005874IDA-microtubule9857026
GO:0005923IEA-bicellular tight junction-
GO:0005925IDA-focal adhesion21423176
GO:0014069IEA-postsynaptic density-
GO:0031410IEA-cytoplasmic vesicle-
GO:0031982IDA-vesicle21887730
GO:0032587IDA-ruffle membrane19043560
GO:0043025IEA-neuronal cell body-
GO:0043198IEA-dendritic shaft-
GO:0043234IDA-protein complex21887730
GO ID Evidence Qualifier GO_term References
GO:0005085TAS-guanyl-nucleotide exchange factor activity-
GO:0005089IDA-Rho guanyl-nucleotide exchange factor activity9857026
GO:0005089TAS-Rho guanyl-nucleotide exchange factor activity-
GO:0005515IPI-protein binding14970201
GO:0008017IDA-microtubule binding9857026
GO:0008134ISS-transcription factor binding-
GO:0008270NAS-zinc ion binding11912491
GO:0017048IDA-Rho GTPase binding9857026
GO:0030676IDA-Rac guanyl-nucleotide exchange factor activity9857026
GO:0048365IDA-Rac GTPase binding9857026
GO ID Evidence Qualifier GO_term References
GO:0000132IEA-establishment of mitotic spindle orientation-
GO:0000902IMP-cell morphogenesis11912491
GO:0006886NAS-intracellular protein transport9857026
GO:0007015IMP-actin filament organization9857026
GO:0007026IMP-negative regulation of microtubule depolymerization11912491
GO:0032755IDA-positive regulation of interleukin-6 production21887730
GO:0032760IDA-positive regulation of tumor necrosis factor production21887730
GO:0035023NAS-regulation of Rho protein signal transduction11912491
GO:0035556IEA-intracellular signal transduction-
GO:0042127TAS-regulation of cell proliferation9857026
GO:0043065TAS-positive regulation of apoptotic process-
GO:0043547IEA-positive regulation of GTPase activity-
GO:0045087IEA-innate immune response-
GO:0045944IDA-positive regulation of transcription from RNA polymerase II promoter21887730
GO:0050731IDA-positive regulation of peptidyl-tyrosine phosphorylation21887730
GO:0050768IEA-negative regulation of neurogenesis-
GO:0051056TAS-regulation of small GTPase mediated signal transduction-
GO:0051092IDA-positive regulation of NF-kappaB transcription factor activity19043560
GO:0051301IEA-cell division-
GO:0060546ISS-negative regulation of necroptotic process-
GO:0071225IDA-cellular response to muramyl dipeptide21887730
GO:0071356ISS-cellular response to tumor necrosis factor-
GO:0071474ISS-cellular hyperosmotic response-
GO:0071802IEA-negative regulation of podosome assembly-
GO:1902042ISS-negative regulation of extrinsic apoptotic signaling pathway via death domain receptors-
GO:1902219ISS-negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
ARHGEF2RHOA1146189857026 Biochemical Activity
ARHGEF2RHOA1068809857026 Biochemical Activity
ARHGEF2MARK211461819615732 Affinity Capture-MS
ARHGEF2MARK210832619615732 Affinity Capture-MS
ARHGEF2MYC11461817353931 Affinity Capture-MS
ARHGEF2MYC11069417353931 Affinity Capture-MS
ARHGEF2PAK111109514970201 Affinity Capture-MS; Reconstituted Complex
ARHGEF2PAK111461814970201 Affinity Capture-MS; Reconstituted Complex
ARHGEF2PLCG111461819805522 Affinity Capture-Western
ARHGEF2PLCG111135119805522 Affinity Capture-Western
ARHGEF2MAPK111158018211802 Affinity Capture-Western
ARHGEF2MAPK111461818211802 Affinity Capture-Western
ARHGEF2RAC111461811595749 Reconstituted Complex
ARHGEF2RAC111181711595749 Reconstituted Complex
ARHGEF2TAF1011461817643375 Affinity Capture-MS
ARHGEF2TAF1011274417643375 Affinity Capture-MS
ARHGEF2WASF11146189843499 Affinity Capture-Western
ARHGEF2WASF11144499843499 Affinity Capture-Western
YWHAQARHGEF211616814970201 Affinity Capture-Western
YWHAQARHGEF211461814970201 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:103264
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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