AutismKB 2.0

Annotation Detail for GAD2


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Basic Information Top
Gene Symbol:GAD2 ( GAD65,MGC161605,MGC161607 )
Gene Full Name: glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
Band: 10p12.1
Quick LinksEntrez ID:2572; OMIM: 138275; Uniprot ID:DCE2_HUMAN; ENSEMBL ID: ENSG00000136750; HGNC ID: 4093
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
3Phosphoserine.
6Phosphoserine.
10Phosphoserine.
13Phosphoserine.
396N6-(pyridoxal phosphate)lysine.
Location(AA) Modifications Resource
3Phosphoserine.Swiss-Prot 53.0
6Phosphoserine.Swiss-Prot 53.0
10Phosphoserine.Swiss-Prot 53.0
13Phosphoserine.Swiss-Prot 53.0
30S-palmitoyl cysteine.Swiss-Prot 53.0
45S-palmitoyl cysteine.Swiss-Prot 53.0
Location(AA) Modification Resource
17Phosphoserine(CK2)HMM predict
58O-linkedHMM predict
61Phosphoserine(ATM)HMM predict
61O-linkedHMM predict
65MethylarginineHMM predict
107Phosphothreonine(PKA)HMM predict
107Phosphothreonine(PKC)HMM predict
145SulfotyrosineHMM predict
240Phosphoserine(CDC2)HMM predict
240Phosphoserine(CDK)HMM predict
389Phosphoserine(CK1)HMM predict
425Phosphotyrosine(Jak)HMM predict
433SulfotyrosineHMM predict
437SulfotyrosineHMM predict
491Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000818
  • Location:chr10 26545599-26633491
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF JurkatGSE13047 26544219 26545719 1500 631
NRSF mAbJurkat 26544601 26545420 819 589
NRSF-mono JurkatQuESTdata 26544690 26545765 1075 372
NRSF-poly JurkatQuESTdata 26544142 26545861 1719 598
hScc1 BcellGSE12603 26545097 26545844 747 129
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 26638153 26638184 31 4677
Oct1 HelaGSE14283 26638151 26638184 33 4676
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 26630335 26630370 35 0
ER E2-MCF7GSE14664 26632257 26632308 51 0
ER Fulvestrant-MCF7GSE14664 26630333 26630371 38 0
GABP HelaGSE8489 26606060 26606591 531 0
Gata2 K562GSE18868 26551359 26551970 611 0
NRSF JurkatSISSRdata 26578713 26578900 187 0
NRSF-mono JurkatQuESTdata 26578655 26578918 263 0
Oct1 HelaGSE14283 26590862 26590906 44 0
Oct1 HelaGSE14283 26590952 26591018 66 0
Oct1 HelaGSE14283 26630341 26630382 41 0
PAX3-FKHR Rh4GSE19063 26564295 26565445 1150 0
TFAP2C MCF7GSE21234 26625344 26625604 260 0
hScc1 BcellGSE12603 26605623 26605877 254 0
p63 keratinocytesGSE17611 26580621 26581298 677 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