AutismKB 2.0

Annotation Detail for GABBR2


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Basic Information Top
Gene Symbol:GABBR2 ( FLJ36928,GABABR2,GPR51,GPRC3B,HG20,HRIHFB2099 )
Gene Full Name: gamma-aminobutyric acid (GABA) B receptor, 2
Band: 9q22.33
Quick LinksEntrez ID:9568; OMIM: 607340; Uniprot ID:GABR2_HUMAN; ENSEMBL ID: ENSG00000136928; HGNC ID: 4507
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
90N-linked (GlcNAc...) (Potential).
298N-linked (GlcNAc...) (Potential).
389N-linked (GlcNAc...) (Potential).
404N-linked (GlcNAc...) (Potential).
453N-linked (GlcNAc...) (Potential).
884Phosphoserine.
Location(AA) Modifications Resource
90N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
298N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
389N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
404N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
453N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
884Phosphoserine.Swiss-Prot 53.0
884PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
52O-linkedHMM predict
227Phosphoserine(CK2)HMM predict
231Phosphoserine(IKK)HMM predict
273Phosphotyrosine(SRC)HMM predict
273Phosphotyrosine(EGFR)HMM predict
298N-linkedHMM predict
389N-linkedHMM predict
404N-linkedHMM predict
407N-linkedHMM predict
425Phosphothreonine(PKC)HMM predict
453N-linkedHMM predict
478Phosphoserine(PKG)HMM predict
516Phosphoserine(CDK)HMM predict
610S-palmitoylHMM predict
682Phosphoserine(CAMK2)HMM predict
691Phosphotyrosine(INSR)HMM predict
733O-linkedHMM predict
771Phosphoserine(CK1)HMM predict
771Phosphoserine(IKK)HMM predict
774O-linkedHMM predict
775O-linkedHMM predict
776Phosphoserine(IKK)HMM predict
776O-linkedHMM predict
778O-linkedHMM predict
779O-linkedHMM predict
819Phosphothreonine(CDC2)HMM predict
819Phosphothreonine(CDK)HMM predict
825Phosphotyrosine(INSR)HMM predict
842N-linkedHMM predict
867N-linkedHMM predict
872O-linkedHMM predict
884PhosphoserineHMM predict
893Phosphoserine(PKG)HMM predict
893Phosphoserine(PKA)HMM predict
893Phosphoserine(PKA)HMM predict
913Phosphoserine(IKK)HMM predict
916Phosphoserine(IKK)HMM predict
920Phosphoserine(IKK)HMM predict
920Phosphoserine(CDC2)HMM predict
920O-linkedHMM predict
920Phosphoserine(CDK)HMM predict
922O-linkedHMM predict
924PhosphoserineHMM predict
924Phosphoserine(CDK)HMM predict
924Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005458
  • Location:chr9 100090186-100511299
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K27me3 colorectalcancer 100511907 100513132 1225 1220
H3K27me3 colorectalcancer 100513602 100514582 980 2793
NRSF JurkatGSE13047 100511033 100513072 2039 753
NRSF mAbJurkat 100511841 100515263 3422 2253
NRSF mAbJurkat 100516089 100516398 309 4944
NRSF mAbJurkat 100518709 100519996 1287 8053
NRSF-mono JurkatQuESTdata 100512130 100513190 1060 1361
NRSF-poly JurkatQuESTdata 100511332 100512964 1632 849
hScc1 BcellGSE12603 100511253 100511655 402 155
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 100076247 100076323 76 13902
ER E2-MCF7GSE14664 100081579 100081611 32 8592
ER Fulvestrant-MCF7GSE14664 100081467 100081542 75 8682
Fos K562GSE19551 100089306 100089963 657 552
NRSF JurkatGSE13047 100086892 100087237 345 3122
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 100117541 100117972 431 0
CTCF CD4GSE12889 100167441 100167586 145 0
CTCF CD4SISSRdata 100117541 100117972 431 0
CTCF CD4SISSRdata 100167441 100167586 145 0
CTCF JurkatGSE12889 100117615 100118041 426 0
ER E2-MCF7GSE14664 100311655 100311693 38 0
ER E2-MCF7GSE14664 100406358 100406396 38 0
ER Fulvestrant-MCF7GSE14664 100156558 100156590 32 0
ER Fulvestrant-MCF7GSE14664 100452911 100452983 72 0
ER MCF7GSE19013 100281601 100282106 505 0
FOXA1 MCF7GSE15244 100255867 100256363 496 0
FOXA1 MCF7GSE15244 100349974 100350438 464 0
FOXA1 MCF7GSE15244 100353628 100354949 1321 0
FOXA1 MCF7GSE15244 100488868 100489148 280 0
FOXA1 MCF7GSE15244 100498599 100499147 548 0
Fos K562GSE19551 100128317 100128955 638 0
Fos K562GSE19551 100230530 100231005 475 0
Fos K562GSE19551 100319641 100320230 589 0
FoxA1 MCF7MACSdata 100349744 100350145 401 0
Gata2 K562GSE18868 100170398 100170995 597 0
Gata2 K562GSE18868 100176410 100178020 1610 0
Gata2 K562GSE18868 100377616 100378868 1252 0
H3K27me3 colorectalcancer 100508498 100509108 610 0
KLF4 hESGSE17917 100204588 100204800 212 0
KLF4 hESGSE17917 100511127 100511418 291 0
Myc K562GSE19551 100377285 100378357 1072 0
NRSF JurkatGSE13047 100274235 100274703 468 0
NRSF JurkatGSE13047 100320702 100321113 411 0
NRSF JurkatSISSRdata 100274235 100274624 389 0
NRSF-mono JurkatQuESTdata 100274234 100274702 468 0
NRSF-mono JurkatQuESTdata 100320701 100321112 411 0
NRSF-poly JurkatQuESTdata 100274304 100274661 357 0
Nanog hESGSE18292 100215320 100215486 166 0
Nanog hESGSE18292 100306553 100306914 361 0
Oct1 H2O2-HelaGSE14283 100256520 100256551 31 0
Oct1 H2O2-HelaGSE14283 100267959 100267995 36 0
Oct1 H2O2-HelaGSE14283 100324263 100324290 27 0
Oct1 H2O2-HelaGSE14283 100381880 100381908 28 0
Oct1 H2O2-HelaGSE14283 100406363 100406390 27 0
Oct1 H2O2-HelaGSE14283 100442188 100442224 36 0
Oct1 HelaGSE14283 100123467 100123495 28 0
Oct1 HelaGSE14283 100143581 100143657 76 0
Oct1 HelaGSE14283 100244010 100244120 110 0
Oct1 HelaGSE14283 100256516 100256555 39 0
Oct1 HelaGSE14283 100267955 100267995 40 0
Oct1 HelaGSE14283 100287090 100287118 28 0
Oct1 HelaGSE14283 100311649 100311691 42 0
Oct1 HelaGSE14283 100337250 100337302 52 0
Oct1 HelaGSE14283 100339387 100339416 29 0
Oct1 HelaGSE14283 100341963 100342014 51 0
Oct1 HelaGSE14283 100347794 100347832 38 0
Oct1 HelaGSE14283 100349033 100349093 60 0
Oct1 HelaGSE14283 100388824 100388865 41 0
Oct1 HelaGSE14283 100392858 100392886 28 0
Oct1 HelaGSE14283 100406357 100406394 37 0
Oct1 HelaGSE14283 100407598 100407631 33 0
Oct1 HelaGSE14283 100427764 100427792 28 0
Oct1 HelaGSE14283 100442194 100442224 30 0
Oct1 HelaGSE14283 100508333 100508362 29 0
Oct4 hESGSE17917 100117573 100118002 429 0
P300 T30-glioblastomaGSE21026 100126412 100126978 566 0
P300 T30-glioblastomaGSE21026 100377339 100378372 1033 0
RARA MCF7GSE15244 100143349 100144080 731 0
RARA MCF7GSE15244 100255867 100256363 496 0
RARA MCF7GSE15244 100282388 100283040 652 0
RARA MCF7GSE15244 100488868 100489148 280 0
RARA MCF7GSE15244 100489678 100490141 463 0
RNAII Tamoxifen-MCF7GSE14664 100337250 100337309 59 0
Rb GrowingGSE19898 100509385 100509523 138 0
Rb QuiescentGSE19898 100132948 100133069 121 0
Rb QuiescentGSE19898 100509172 100509529 357 0
Rb SenescentGSE19898 100509326 100509644 318 0
SRF HelaGSE8489 100362218 100362467 249 0
SRF k562GSE8489 100419869 100420833 964 0
Sox2 hESGSE18292 100306613 100306904 291 0
TAF HelaGSE8489 100362218 100362467 249 0
TAF k562GSE8489 100419869 100420796 927 0
TFAP2C MCF7GSE21234 100108414 100109307 893 0
TFAP2C MCF7GSE21234 100247603 100247997 394 0
TFAP2C MCF7GSE21234 100257312 100258657 1345 0
TFAP2C MCF7GSE21234 100274374 100274650 276 0
TFAP2C MCF7GSE21234 100488967 100489766 799 0
hScc1 BcellGSE12603 100113113 100113357 244 0
hScc1 BcellGSE12603 100117490 100118232 742 0
hScc1 BcellGSE12603 100201480 100201721 241 0
hScc1 BcellGSE12603 100338623 100339132 509 0
hScc1 BcellGSE12603 100377789 100378244 455 0
hScc1 BcellGSE12603 100407039 100407221 182 0
hScc1 BcellGSE12603 100472048 100472200 152 0
hScc1 BcellGSE12603 100508745 100510067 1322 0
hScc1 CdLSGSE12603 100117415 100118232 817 0
hScc1 CdLSGSE12603 100338623 100339132 509 0
hScc1 G2GSE9613 100117570 100118164 594 0
p130 QuiescentGSE19898 100290794 100290979 185 0
p130 SenescentGSE19898 100117630 100117951 321 0
p130 shRbQuiescentGSE19898 100377474 100378151 677 0
p130 shRbQuiescentGSE19898 100508842 100509350 508 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
26807 EST chr9 98150712 98151164 452 mRNA GPR51 chr9 98129920 98551034 Non-exonic Bidirectional (NOB) pairs

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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