AutismKB 2.0

Annotation Detail for GRIA2


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Basic Information Top
Gene Symbol:GRIA2 ( GLUR2,GLURB,GluA2,GluR-K2,HBGR2 )
Gene Full Name: glutamate receptor, ionotropic, AMPA 2
Band: 4q32.1
Quick LinksEntrez ID:2891; OMIM: 138247; Uniprot ID:GRIA2_HUMAN; ENSEMBL ID: ENSG00000120251; HGNC ID: 4572
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
256N-linked (GlcNAc...) (Potential).
370N-linked (GlcNAc...) (Potential).
406N-linked (GlcNAc...) (Potential).
413N-linked (GlcNAc...) (Potential).
683Phosphoserine; by PKC (By similarity).
717Phosphoserine; by PKG (By similarity).
869Phosphotyrosine (By similarity).
876Phosphotyrosine (By similarity).
880Phosphoserine (By similarity).
Location(AA) Modifications Resource
256N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
370N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
406N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
413N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
610S-palmitoyl cysteine (By similarity).Swiss-Prot 53.0
836S-palmitoyl cysteine (By similarity).Swiss-Prot 53.0
880PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
41Phosphotyrosine(EGFR)HMM predict
142SulfotyrosineHMM predict
143SulfotyrosineHMM predict
192Phosphotyrosine(EGFR)HMM predict
256N-linkedHMM predict
279Phosphothreonine(PKC)HMM predict
292O-linkedHMM predict
406N-linkedHMM predict
413N-linkedHMM predict
420O-linkedHMM predict
585Phosphoserine(IKK)HMM predict
652Phosphoserine(CAMK2)HMM predict
661Phosphoserine(CK1)HMM predict
683Phosphoserine(PKC)HMM predict
717Phosphoserine(PKC)HMM predict
717Phosphoserine(PKG)HMM predict
801O-linkedHMM predict
856N-linkedHMM predict
860Phosphoserine(ATM)HMM predict
860Phosphoserine(CK1)HMM predict
862N-linkedHMM predict
873Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000826
  • Location:chr4 158361296-158506673
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 158345152 158345494 342 15974
CTCF G2GSE9613 158360787 158361484 697 161
NRSF JurkatGSE13047 158360620 158361633 1013 170
NRSF-mono JurkatQuESTdata 158360648 158361587 939 179
NRSF-poly JurkatQuESTdata 158360620 158361548 928 213
TFAP2C MCF7GSE21234 158360722 158361083 361 394
hScc1 BcellGSE12603 158345261 158345494 233 15919
hScc1 BcellGSE12603 158360858 158361301 443 217
hScc1 CdLSGSE12603 158345109 158345494 385 15995
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Sox2 hESGSE18292 158516729 158516942 213 10162
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 158362666 158363040 374 0
CTCF G2GSE9613 158384635 158384812 177 0
NRSF mAbJurkat 158359643 158364478 4835 0
PAX3-FKHR Rh4GSE19063 158497711 158499318 1607 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-181b hsa-mir-181b-1 1 20347265
hsa-miR-181b hsa-mir-181b-2 9 20347265
hsa-miR-181b hsa-mir-181b-1 1 18184693
hsa-miR-181b hsa-mir-181b-2 9 18184693
hsa-miR-198 hsa-mir-198 0 20347265
hsa-miR-206 hsa-mir-206 6 20347265
hsa-miR-24 hsa-mir-24-1 9 20347265
hsa-miR-24 hsa-mir-24-2 19 20347265
hsa-miR-24-1* hsa-mir-24-1 9 20347265
hsa-miR-24-2* hsa-mir-24-2 19 20347265
hsa-miR-26b hsa-mir-26b 2 20347265
hsa-miR-26b* hsa-mir-26b 2 20347265
hsa-miR-30a hsa-mir-30a 6 20582287
hsa-miR-30a* hsa-mir-30a 6 20582287
hsa-miR-30b hsa-mir-30b 8 20347265
hsa-miR-30b hsa-mir-30b 8 20582287
hsa-miR-30b* hsa-mir-30b 8 20347265
hsa-miR-30b* hsa-mir-30b 8 20582287
hsa-miR-30c hsa-mir-30c-2 6 20582287
hsa-miR-30c hsa-mir-30c-1 1 20582287
hsa-miR-30c-1* hsa-mir-30c-1 1 20582287
hsa-miR-30c-2* hsa-mir-30c-2 6 20582287
hsa-miR-30d hsa-mir-30d 8 20582287
hsa-miR-30d* hsa-mir-30d 8 20582287
hsa-miR-30e hsa-mir-30e 1 20347265
hsa-miR-30e hsa-mir-30e 1 20582287
hsa-miR-30e* hsa-mir-30e 1 20347265
hsa-miR-30e* hsa-mir-30e 1 20582287
hsa-miR-92a hsa-mir-92a-1 13 20347265
hsa-miR-92a hsa-mir-92a-2 X 20347265
hsa-miR-92a-1* hsa-mir-92a-1 13 20347265
hsa-miR-92a-2* hsa-mir-92a-2 X 20347265
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
497 Unknown TRUE miR-181b GRIA2 Luciferase assay - mutant MRE 18184693
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000120251 cortical grey matter from the superior temporal gyrus schizophrenia up regulated "lymphocyte, muscle cell" "malignant tumour, benign tumour, carcinoma"
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