AutismKB 2.0

Annotation Detail for GABRA2


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Basic Information Top
Gene Symbol:GABRA2 ( FLJ97076 )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, alpha 2
Band: 4p12
Quick LinksEntrez ID:2555; OMIM: 137140; Uniprot ID:GBRA2_HUMAN; ENSEMBL ID: ENSG00000151834; HGNC ID: 4076
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
38N-linked (GlcNAc...) (Potential).
138N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
38N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
138N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
38N-linkedHMM predict
138N-linkedHMM predict
143N-linkedHMM predict
190O-linkedHMM predict
201N-linkedHMM predict
232Phosphoserine(CK2)HMM predict
237Phosphotyrosine(INSR)HMM predict
237Phosphotyrosine(SRC)HMM predict
268Phosphoserine(ATM)HMM predict
292O-linkedHMM predict
303Phosphoserine(PKG)HMM predict
377N-linkedHMM predict
388O-linkedHMM predict
392Phosphothreonine(PKC)HMM predict
393Phosphothreonine(CDC2)HMM predict
393Phosphothreonine(MAPK)HMM predict
393Phosphothreonine(CDK)HMM predict
439ThreonineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000807
  • Location:chr4 45946462-46086701
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 46099475 46099515 40 12794
H3K27me3 colorectalcancer 46087438 46087917 479 976
Oct1 HelaGSE14283 46091836 46091890 54 5162
Oct1 HelaGSE14283 46095978 46096054 76 9315
Oct1 HelaGSE14283 46096093 46096133 40 9412
Oct1 HelaGSE14283 46096178 46096225 47 9500
Oct4 hESGSE17917 46086951 46087234 283 391
hScc1 BcellGSE12603 46087004 46087438 434 520
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 45971573 45971845 272 0
CTCF G2GSE9613 46086011 46087322 1311 0
Oct1 H2O2-HelaGSE14283 45986325 45986392 67 0
Oct1 H2O2-HelaGSE14283 46029884 46029913 29 0
Oct1 HelaGSE14283 45955444 45955473 29 0
Oct1 HelaGSE14283 45986326 45986399 73 0
Oct1 HelaGSE14283 45986552 45986631 79 0
Oct1 HelaGSE14283 45997282 45997312 30 0
Oct1 HelaGSE14283 46020184 46020222 38 0
Oct1 HelaGSE14283 46029877 46029917 40 0
Oct1 HelaGSE14283 46067191 46067228 37 0
Rb GrowingGSE19898 46072767 46072949 182 0
hScc1 G2GSE9613 45971573 45971811 238 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