AutismKB 2.0

Annotation Detail for RAC2


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Basic Information Top
Gene Symbol:RAC2 ( EN-7,Gx,HSPC022 )
Gene Full Name: ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)
Band: 22q13.1
Quick LinksEntrez ID:5880; OMIM: 602049; Uniprot ID:RAC2_HUMAN; ENSEMBL ID: ENSG00000128340; HGNC ID: 9802
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
39ADP-ribosylasparagine; by botulinum toxin
40Effector region (Potential).
147N6-acetyllysine.
189Cysteine methyl ester (Probable).
Location(AA) Modifications Resource
39ADP-ribosylasparagine (by botulinumtoxin) (By similarity).Swiss-Prot 53.0
189Cysteine methyl ester (Probable).Swiss-Prot 53.0
189S-geranylgeranyl cysteine.Swiss-Prot 53.0
Location(AA) Modification Resource
32Phosphotyrosine(Jak)HMM predict
64Phosphotyrosine(Syk)HMM predict
86Phosphoserine(MAPK)HMM predict
189S-farnesylHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002872
  • Location:chr22 35951257-35970250
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 35986663 35987324 661 16743
hScc1 BcellGSE12603 35985585 35985981 396 15533
hScc1 BcellGSE12603 35986663 35987427 764 16795
hScc1 CdLSGSE12603 35986439 35987399 960 16669
hScc1 G2GSE9613 35986708 35987324 616 16766
p63 keratinocytesGSE17611 35980734 35981599 865 10916
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 35945338 35945630 292 5774
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 35964521 35964715 194 0
CTCF CD4SISSRdata 35964521 35964715 194 0
CTCF G2GSE9613 35952805 35953215 410 0
ETS1 JurkatGSE17954 35955430 35956660 1230 0
Gata1 K562GSE18868 35968453 35969059 606 0
Gata2 K562GSE18868 35968342 35969007 665 0
TFAP2C MCF7GSE21234 35954529 35955160 631 0
VDR GM10855-stimGSE22484 35967707 35972391 4684 0
VDR GM10861-stimGSE22484 35967303 35972442 5139 0
c MYCMCF7 35952778 35953279 501 0
hScc1 BcellGSE12603 35952778 35953279 501 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