AutismKB 2.0

Annotation Detail for GAB2


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Basic Information Top
Gene Symbol:GAB2 ( KIAA0571 )
Gene Full Name: GRB2-associated binding protein 2
Band: 11q14.1
Quick LinksEntrez ID:9846; OMIM: 606203; Uniprot ID:GAB2_HUMAN; ENSEMBL ID: ENSG00000033327; HGNC ID: 14458
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
133Phosphoserine.
140Phosphoserine.
141Phosphoserine.
148Phosphoserine.
149Phosphoserine.
159Phosphoserine.
164Phosphoserine.
210Phosphoserine.
218Phosphoserine.
223Phosphoserine.
264Phosphoserine.
265Phosphothreonine (By similarity).
266Phosphotyrosine.
278Phosphothreonine.
281Phosphoserine.
287Phosphothreonine.
293Phosphotyrosine.
331Phosphothreonine.
358SH3-binding.
385Phosphothreonine.
391Phosphothreonine.
404Phosphoserine.
405Phosphoserine.
452Phosphotyrosine (By similarity).
480Phosphoserine.
519SH3-binding.
543Phosphoserine.
622Phosphoserine.
623Phosphoserine.
Location(AA) Modifications Resource
159Phosphoserine (PKB
266Phosphotyrosine.Swiss-Prot 53.0
266PhosphotyrosinePhospho.ELM 6.0
293PhosphotyrosinePhospho.ELM 6.0
324PhosphotyrosinePhospho.ELM 6.0
405Phosphoserine (By similarity).Swiss-Prot 53.0
452PhosphotyrosinePhospho.ELM 6.0
476PhosphotyrosinePhospho.ELM 6.0
584PhosphotyrosinePhospho.ELM 6.0
614Phosphotyrosine (ZAP70)Phospho.ELM 6.0
623Phosphoserine (MAPK3)Phospho.ELM 6.0
643PhosphotyrosinePhospho.ELM 6.0
Location(AA) Modification Resource
16Phosphoserine(CDC2)HMM predict
78MethyllysineHMM predict
130N-linkedHMM predict
141Phosphoserine(CDC2)HMM predict
146Phosphoserine(CK1)HMM predict
147Phosphoserine(CK1)HMM predict
149Phosphoserine(ATM)HMM predict
159Phosphoserine(PKB)HMM predict
159Phosphoserine(PKG)HMM predict
159Phosphoserine(PKA)HMM predict
162Phosphoserine(CK1)HMM predict
165Phosphoserine(ATM)HMM predict
185O-linkedHMM predict
210Phosphoserine(IKK)HMM predict
210Phosphoserine(PKB)HMM predict
212Phosphoserine(ATM)HMM predict
266PhosphotyrosineHMM predict
285Phosphoserine(IKK)HMM predict
319Phosphothreonine(MAPK)HMM predict
319Phosphothreonine(CDK)HMM predict
359O-linkedHMM predict
391Phosphothreonine(PKA)HMM predict
414MethylarginineHMM predict
452Phosphotyrosine(INSR)HMM predict
452Phosphotyrosine(Syk)HMM predict
452PhosphotyrosineHMM predict
452Phosphotyrosine(SRC)HMM predict
476Phosphotyrosine(Syk)HMM predict
476Phosphotyrosine(INSR)HMM predict
526Phosphothreonine(MAPK)HMM predict
532N-linkedHMM predict
533N-linkedHMM predict
553N-linkedHMM predict
557N-linkedHMM predict
571Phosphoserine(IKK)HMM predict
573O-linkedHMM predict
575O-linkedHMM predict
584PhosphotyrosineHMM predict
584Phosphotyrosine(SRC)HMM predict
584Phosphotyrosine(Abl)HMM predict
584Phosphotyrosine(Syk)HMM predict
584Phosphotyrosine(INSR)HMM predict
584SulfotyrosineHMM predict
592O-linkedHMM predict
594O-linkedHMM predict
594PhosphoserineHMM predict
594Phosphoserine(CDK)HMM predict
594Phosphoserine(IKK)HMM predict
594Phosphoserine(CDC2)HMM predict
600O-linkedHMM predict
600O-linkedHMM predict
602Phosphoserine(CDC2)HMM predict
602Phosphoserine(CDK)HMM predict
602Phosphoserine(CDK)HMM predict
609Phosphothreonine(PKA)HMM predict
622O-linkedHMM predict
623Phosphoserine(CDC2)HMM predict
623Phosphoserine(CDK)HMM predict
623Phosphoserine(ATM)HMM predict
625Phosphoserine(CDK)HMM predict
625Phosphoserine(CDC2)HMM predict
631O-linkedHMM predict
631Phosphoserine(PKB)HMM predict
633O-linkedHMM predict
634Phosphoserine(IKK)HMM predict
634Phosphoserine(CK1)HMM predict
636Phosphothreonine(PKC)HMM predict
636O-linkedHMM predict
637Phosphoserine(CK1)HMM predict
643SulfotyrosineHMM predict
667Phosphoserine(PKG)HMM predict
667Phosphoserine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_012296
  • Location:chr11 77603990-77730573
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 77599627 77599665 38 4345
ER E2-MCF7GSE14664 77599769 77599801 32 4206
NRSF pAbJurkat 77595644 77596551 907 7893
TAF HelaGSE8489 77592898 77593079 181 11002
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 77702542 77702592 50 0
ER E2-MCF7GSE14664 77716641 77716673 32 0
ER MCF7GSE19013 77648321 77649383 1062 0
ER MCF7GSE19013 77700526 77701083 557 0
ER MCF7GSE10800 77648310 77649144 834 0
FOXA1 DLD1GSE12801 77670247 77670899 652 0
FOXA1 MCF7GSE15244 77678927 77679337 410 0
GATA3 MCF7GSE15244 77729100 77729802 702 0
Myc K562GSE19551 77618952 77619575 623 0
Nanog hESGSE18292 77706363 77706776 413 0
Oct1 H2O2-HelaGSE14283 77661076 77661104 28 0
Oct1 H2O2-HelaGSE14283 77695624 77695659 35 0
Oct1 H2O2-HelaGSE14283 77715135 77715167 32 0
Oct1 HelaGSE14283 77694438 77694470 32 0
Oct1 HelaGSE14283 77695625 77695660 35 0
Oct1 HelaGSE14283 77715136 77715173 37 0
RARA MCF7GSE15244 77655226 77656180 954 0
RARA MCF7GSE15244 77700283 77700938 655 0
RARG MCF7GSE15244 77681856 77682065 209 0
RARG MCF7GSE15244 77683921 77684393 472 0
RARG MCF7GSE15244 77700382 77700938 556 0
Rb shRbQuiescentGSE19898 77707528 77707745 217 0
STAT1 IFNSISSRdata 77605401 77606204 803 0
USF1 HepG2E 77678653 77679337 684 0
USF2 HepG2E 77678817 77679337 520 0
hScc1 BcellGSE12603 77608351 77608533 182 0
hScc1 BcellGSE12603 77617137 77617539 402 0
hScc1 BcellGSE12603 77639162 77639440 278 0
hScc1 CdLSGSE12603 77616736 77617946 1210 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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