AutismKB 2.0

Annotation Detail for GRIN2C


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Basic Information Top
Gene Symbol:GRIN2C ( NMDAR2C,NR2C )
Gene Full Name: glutamate receptor, ionotropic, N-methyl D-aspartate 2C
Band: 17q25.1
Quick LinksEntrez ID:2905; OMIM: 138254; Uniprot ID:NMDE3_HUMAN; ENSEMBL ID: ENSG00000161509; HGNC ID: 4587
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
70N-linked (GlcNAc...) (Potential).
337N-linked (GlcNAc...) (Potential).
438N-linked (GlcNAc...) (Potential).
539N-linked (GlcNAc...) (Potential).
1233PDZ-binding (By similarity).
Location(AA) Modifications Resource
70N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
337N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
438N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
539N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
37O-linkedHMM predict
38O-linkedHMM predict
39O-linkedHMM predict
51Phosphothreonine(MAPK)HMM predict
70N-linkedHMM predict
73N-linkedHMM predict
131Phosphothreonine(CDK)HMM predict
212Phosphothreonine(PKC)HMM predict
212Phosphothreonine(PKA)HMM predict
325Phosphoserine(CDC2)HMM predict
337N-linkedHMM predict
348Phosphoserine(CDC2)HMM predict
437Phosphoserine(PKG)HMM predict
437Phosphoserine(PKA)HMM predict
438N-linkedHMM predict
476Phosphotyrosine(Jak)HMM predict
539N-linkedHMM predict
585N-linkedHMM predict
592Phosphoserine(PKG)HMM predict
598Phosphothreonine(PKC)HMM predict
612N-linkedHMM predict
613N-linkedHMM predict
623Phosphothreonine(PKC)HMM predict
685N-linkedHMM predict
691N-linkedHMM predict
846Phosphoserine(IKK)HMM predict
849N-linkedHMM predict
864Phosphotyrosine(INSR)HMM predict
875Phosphoserine(MAPK)HMM predict
875Phosphoserine(CDC2)HMM predict
881Phosphoserine(IKK)HMM predict
885O-linkedHMM predict
892Phosphoserine(IKK)HMM predict
933O-linkedHMM predict
937O-linkedHMM predict
937O-linkedHMM predict
937O-linkedHMM predict
940Phosphoserine(IKK)HMM predict
940O-linkedHMM predict
943O-linkedHMM predict
943Phosphoserine(IKK)HMM predict
948O-linkedHMM predict
948O-linkedHMM predict
948Phosphothreonine(CDC2)HMM predict
956O-linkedHMM predict
983Phosphothreonine(MAPK)HMM predict
983O-linkedHMM predict
1016Phosphoserine(PKG)HMM predict
1023Phosphoserine(IKK)HMM predict
1023Phosphoserine(CDC2)HMM predict
1081Phosphoserine(PKB)HMM predict
1081Phosphoserine(PKA)HMM predict
1081Phosphoserine(IKK)HMM predict
1095Phosphoserine(IKK)HMM predict
1122Phosphoserine(IKK)HMM predict
1214Phosphothreonine(PKC)HMM predict
1224ArginineHMM predict
1227Phosphoserine(PKG)HMM predict
1228Phosphoserine(PKG)HMM predict
1228Phosphoserine(PKB)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000835
  • Location:chr17 70349762-70367601
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 70350728 70350890 162 0
CTCF CD4SISSRdata 70350728 70350890 162 0
CTCF G2GSE9613 70350266 70351494 1228 0
CTCF G2GSE9613 70357005 70357567 562 0
CTCF G2GSE9613 70362615 70362856 241 0
H3K27me3 colorectalcancer 70365780 70366016 236 0
NRSF JurkatGSE13047 70359839 70360685 846 0
NRSF-mono JurkatQuESTdata 70359751 70360701 950 0
NRSF-poly JurkatQuESTdata 70359776 70360711 935 0
Oct1 HelaGSE14283 70357995 70358022 27 0
PHF8 293TGSE20725 70360325 70360978 653 0
hScc1 BcellGSE12603 70350266 70350767 501 0
hScc1 BcellGSE12603 70351271 70351583 312 0
hScc1 BcellGSE12603 70353633 70353840 207 0
hScc1 BcellGSE12603 70357005 70357567 562 0
hScc1 BcellGSE12603 70358064 70358357 293 0
hScc1 BcellGSE12603 70366246 70366489 243 0
hScc1 BcellGSE12603 70366919 70367845 926 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


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