AutismKB 2.0

Annotation Detail 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
Post Translation Modification Top
Location(AA) Modification
143Phosphoserine; by PAK4.
149Phosphoserine.
151Phosphoserine.
152Phosphothreonine.
153Phosphothreonine.
163Phosphoserine.
172Phosphoserine.
174Phosphoserine.
177Phosphoserine.
353N6-acetyllysine.
645Phosphoserine.
648Phosphoserine.
679Phosphothreonine; by MAPK1 or MAPK3.
691Phosphoserine.
696Phosphoserine.
782Phosphoserine (By similarity).
886Phosphoserine; by PAK1 and STK6.
894Phosphotyrosine.
896Phosphoserine; by PAK4.
932Phosphoserine.
940Phosphoserine.
941Phosphoserine.
945Phosphothreonine.
947Phosphoserine.
953Phosphoserine.
956Phosphoserine.
960Phosphoserine.
Location(AA) Modifications Resource
163Phosphoserine.Swiss-Prot 53.0
163PhosphoserinePhospho.ELM 6.0
644Phosphoserine (By similarity).Swiss-Prot 53.0
695Phosphoserine.Swiss-Prot 53.0
695PhosphoserinePhospho.ELM 6.0
885Phosphoserine (PAK1)Phospho.ELM 6.0
Location(AA) Modification Resource
6Phosphoserine(PKA)HMM predict
6Phosphoserine(CK1)HMM predict
53S-palmitoylHMM predict
72N-linkedHMM predict
77N-linkedHMM predict
85N-linkedHMM predict
101N-linkedHMM predict
102N-linkedHMM predict
115Phosphothreonine(PKC)HMM predict
149Phosphoserine(IKK)HMM predict
149PhosphoserineHMM predict
172Phosphoserine(ATM)HMM predict
172Phosphoserine(PKG)HMM predict
182N-linkedHMM predict
197PhosphotyrosineHMM predict
197Phosphotyrosine(SRC)HMM predict
197SulfotyrosineHMM predict
223Phosphoserine(IKK)HMM predict
286Phosphoserine(CK1)HMM predict
323Phosphoserine(ATM)HMM predict
369Phosphothreonine(PKA)HMM predict
433Phosphotyrosine(SRC)HMM predict
445Phosphotyrosine(Syk)HMM predict
454Phosphothreonine(CDK)HMM predict
454Phosphothreonine(CDC2)HMM predict
454Phosphothreonine(MAPK)HMM predict
583Phosphothreonine(CK2)HMM predict
588Phosphotyrosine(Jak)HMM predict
644Phosphoserine(IKK)HMM predict
647Phosphoserine(CDC2)HMM predict
695Phosphoserine(CDC2)HMM predict
708N-linkedHMM predict
720Phosphoserine(CK1)HMM predict
721Phosphoserine(ATM)HMM predict
732Phosphoserine(CDC2)HMM predict
885Phosphoserine(PKG)HMM predict
885Phosphoserine(PKB)HMM predict
885Phosphoserine(CK1)HMM predict
885Phosphoserine(PKC)HMM predict
886Phosphoserine(IKK)HMM predict
886Phosphoserine(CAMK2)HMM predict
886Phosphoserine(CDC2)HMM predict
886Phosphoserine(PKB)HMM predict
886Phosphoserine(PKA)HMM predict
886Phosphoserine(PKG)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004723
  • Location:chr1 154183269-154214574
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 154219550 154220586 1036 5494
CTCF CD4GSE12889 154225799 154226199 400 11425
CTCF CD4SISSRdata 154225799 154226199 400 11425
CTCF JurkatGSE12889 154225755 154226259 504 11433
CTCF G2GSE9613 154225257 154226269 1012 11189
ER Breast-CancerGSE22609 154227243 154228023 780 13059
H3ac HepG2E 154215330 154215894 564 1038
H3ac HepG2E 154216486 154217543 1057 2440
KLF4 hESGSE17917 154225955 154226306 351 11556
NFkBII GM12878GSE19485 154225610 154227222 1612 11842
NFkBII GM12892GSE19485 154225402 154227225 1823 11739
Oct4 hESGSE17917 154220855 154221235 380 6471
Oct4 hESGSE17917 154225878 154226215 337 11472
P300 T30-glioblastomaGSE21026 154219439 154220649 1210 5470
TFAP2C MCF7GSE21234 154216192 154216783 591 1913
USF1 HepG2E 154227586 154228040 454 13239
VDR GM10855-stimGSE22484 154211511 154218757 7246 560
VDR GM10861-stimGSE22484 154210646 154218720 8074 109
hScc1 BcellGSE12603 154215436 154216284 848 1286
hScc1 BcellGSE12603 154220122 154220505 383 5739
hScc1 BcellGSE12603 154225600 154226303 703 11377
hScc1 CdLSGSE12603 154225257 154226269 1012 11189
p130 QuiescentGSE19898 154219713 154220060 347 5312
p130 SenescentGSE19898 154219992 154220255 263 5549
p130 shRbQuiescentGSE19898 154217752 154218285 533 3444
p130 shRbQuiescentGSE19898 154219144 154219873 729 4934
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 154180884 154181793 909 1931
FoxA1 MCF7MACSdata 154181205 154181438 233 1948
H3ac HepG2E 154181398 154182004 606 1569
hScc1 CdLSGSE12603 154182384 154182926 542 615
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 154198512 154198675 163 0
CTCF CD4SISSRdata 154198512 154198675 163 0
CTCF G2GSE9613 154202736 154202945 209 0
CTCF G2GSE9613 154210904 154211505 601 0
CTCF G2GSE9613 154214112 154214671 559 0
H3K4me3 colorectalcancer 154213430 154214045 615 0
H3ac HepG2E 154211312 154211953 641 0
H3ac HepG2E 154212600 154214201 1601 0
Myc K562GSE19551 154206783 154207521 738 0
NFkBII GM12878GSE19485 154188034 154189395 1361 0
Oct1 HelaGSE14283 154210536 154210566 30 0
SRF GMOGSE8489 154209624 154209845 221 0
hScc1 BcellGSE12603 154201813 154202183 370 0
hScc1 BcellGSE12603 154211086 154211377 291 0
hScc1 CdLSGSE12603 154212684 154213136 452 0
p130 shRbSenescentGSE19898 154194727 154194887 160 0
Validated miRNA targets Top
Cis-Nats regulation Top

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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