AutismKB 2.0

Annotation Detail for GABRB2


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Basic Information Top
Gene Symbol:GABRB2 ( MGC119386,MGC119388,MGC119389 )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, beta 2
Band: 5q34
Quick LinksEntrez ID:2561; OMIM: 600232; Uniprot ID:GBRB2_HUMAN; ENSEMBL ID: ENSG00000145864; HGNC ID: 4082
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
32N-linked (GlcNAc...) (Potential).
104N-linked (GlcNAc...) (Potential).
173N-linked (GlcNAc...) (Potential).
434Phosphotyrosine (By similarity).
441Phosphotyrosine (By similarity).
Location(AA) Modifications Resource
32N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
104N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
173N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
434Phosphoserine (PKC
Location(AA) Modification Resource
104N-linkedHMM predict
109N-linkedHMM predict
173N-linkedHMM predict
284O-linkedHMM predict
301Phosphotyrosine(Jak)HMM predict
308Phosphotyrosine(Jak)HMM predict
347Phosphoserine(CK2)HMM predict
412Phosphoserine(PKA)HMM predict
434Phosphoserine(PKC)HMM predict
434Phosphoserine(PKG)HMM predict
434Phosphoserine(CAMK2)HMM predict
434Phosphoserine(PKA)HMM predict
460ValineHMM predict
467ValineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000813
  • Location:chr5 160653448-160907707
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 160752888 160753098 210 0
CTCF G2GSE9613 160718245 160718389 144 0
CTCF G2GSE9613 160839487 160839639 152 0
CTCF G2GSE9613 160907264 160907821 557 0
H3K4me3 colorectalcancer 160905644 160907512 1868 0
Myc K562GSE19551 160903862 160904270 408 0
Nanog hESGSE18292 160791626 160792047 421 0
P300 T30-glioblastomaGSE21026 160752767 160753109 342 0
Stat6 IL-4-hr1GSE17850 160759736 160760630 894 0
hScc1 BcellGSE12603 160903791 160904473 682 0
hScc1 CdLSGSE12603 160903791 160904511 720 0
hScc1 CdLSGSE12603 160907230 160907625 395 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