AutismKB 2.0

Annotation Detail for GABRR2


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Basic Information Top
Gene Symbol:GABRR2 ( - )
Gene Full Name: gamma-aminobutyric acid (GABA) receptor, rho 2
Band: 6q15
Quick LinksEntrez ID:2570; OMIM: 137162; Uniprot ID:GBRR2_HUMAN; ENSEMBL ID: ENSG00000111886; HGNC ID: 4091
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
145N-linked (GlcNAc...) (Potential).
279N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
120N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
254N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
29Phosphothreonine(PKA)HMM predict
90Phosphoserine(CK1)HMM predict
119Phosphoserine(IKK)HMM predict
120N-linkedHMM predict
201Phosphotyrosine(INSR)HMM predict
201SulfotyrosineHMM predict
226Phosphoserine(ATM)HMM predict
254N-linkedHMM predict
303O-linkedHMM predict
312N-linkedHMM predict
320Phosphotyrosine(Jak)HMM predict
327Phosphotyrosine(Jak)HMM predict
382Phosphoserine(CK2)HMM predict
399Phosphothreonine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002043
  • Location:chr6 90023957-90081672
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 90009033 90009577 544 14653
CTCF G2GSE9613 90016721 90016856 135 7169
Nanog hESGSE18292 90009455 90009840 385 14310
hScc1 CdLSGSE12603 90008942 90009522 580 14726
hScc1 G2GSE9613 90008942 90009557 615 14708
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 90048295 90048525 230 0
CTCF CD4SISSRdata 90048295 90048525 230 0
CTCF HelaGSE12889 90048335 90048671 336 0
CTCF G2GSE9613 90036430 90037057 627 0
CTCF G2GSE9613 90045492 90045771 279 0
CTCF G2GSE9613 90048167 90048669 502 0
CTCF G2GSE9613 90049092 90049450 358 0
CTCF G2GSE9613 90053021 90053257 236 0
CTCF G2GSE9613 90053818 90053988 170 0
CTCF G2GSE9613 90064974 90065144 170 0
CTCF G2GSE9613 90065543 90066303 760 0
CTCF G2GSE9613 90068165 90068349 184 0
CTCF G2GSE9613 90068582 90069721 1139 0
CTCF G2GSE9613 90077945 90078569 624 0
Fos K562GSE19551 90064298 90064899 601 0
Myc K562GSE19551 90026814 90027124 310 0
Myc K562GSE19551 90068733 90068935 202 0
NRSF-mono JurkatQuESTdata 90047945 90048630 685 0
P300 T30-glioblastomaGSE21026 90064278 90065014 736 0
RARA MCF7GSE15244 90064300 90065124 824 0
RARG MCF7GSE15244 90064300 90065010 710 0
Rb SenescentGSE19898 90064317 90064705 388 0
Rb shRbQuiescentGSE19898 90052130 90052382 252 0
TFAP2C MCF7GSE21234 90056714 90057212 498 0
USF1 HepG2E 90063207 90063493 286 0
hScc1 BcellGSE12603 90037947 90038196 249 0
hScc1 BcellGSE12603 90048203 90048746 543 0
hScc1 CdLSGSE12603 90048127 90048746 619 0
p130 SenescentGSE19898 90064491 90064685 194 0
p130 SenescentGSE19898 90065586 90065921 335 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