AutismKB 2.0

Annotation Detail for TGM2


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Basic Information Top
Gene Symbol:TGM2 ( G-ALPHA-h,GNAH,TG2,TGC )
Gene Full Name: transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)
Band: 20q11.23
Quick LinksEntrez ID:7052; OMIM: 190196; Uniprot ID:TGM2_HUMAN; ENSEMBL ID: ENSG00000198959; HGNC ID: 11778
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
219Phosphotyrosine.
369Phosphotyrosine.
427Phosphoserine.
Location(AA) Modifications Resource
369Phosphotyrosine.Swiss-Prot 53.0
369PhosphotyrosinePhospho.ELM 6.0
Location(AA) Modification Resource
50Phosphotyrosine(EGFR)HMM predict
56O-linkedHMM predict
68O-linkedHMM predict
68Phosphoserine(ATM)HMM predict
159SulfotyrosineHMM predict
216Phosphoserine(CDC2)HMM predict
343Phosphothreonine(PKC)HMM predict
360Phosphothreonine(MAPK)HMM predict
388Phosphotyrosine(Syk)HMM predict
497N-linkedHMM predict
498N-linkedHMM predict
630Phosphothreonine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004613
  • Location:chr20 36190278-36227113
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 36175025 36175918 893 14807
Fos K562GSE19551 36188880 36189457 577 1110
STAT1 HeLaGSE12783 36183260 36185682 2422 5808
hScc1 BcellGSE12603 36184844 36185088 244 5313
hScc1 G2GSE9613 36175097 36175954 857 14753
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TFAP2C MCF7GSE21234 36193325 36193838 513 0
USF1 HepG2E 36190293 36191192 899 0
USF1 HepG2E 36192890 36193140 250 0
hScc1 BcellGSE12603 36196919 36197117 198 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