AutismKB 2.0

Annotation Detail for GGTLC2


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Basic Information Top
Gene Symbol:GGTLC2 ( GGTL4,MGC96916 )
Gene Full Name: gamma-glutamyltransferase light chain 2
Band: 22q11.22
Quick LinksEntrez ID:91227; OMIM: 612339; Uniprot ID:GGTL2_HUMAN; ENSEMBL ID: ENSG00000100121; HGNC ID: 18596
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_199127
  • Location:chr22 21318779-21320367
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 21307404 21307925 521 11115
CTCF G2GSE9613 21308353 21310507 2154 9350
RARG MCF7GSE15244 21304088 21304746 658 14363
USF1 HepG2E 21303011 21308011 5000 13269
USF2 HepG2E 21303242 21304674 1432 14822
hScc1 BcellGSE12603 21305813 21307278 1465 12234
hScc1 BcellGSE12603 21308388 21309683 1295 9744
hScc1 BcellGSE12603 21316885 21317246 361 1714
hScc1 CdLSGSE12603 21308353 21309719 1366 9744
hScc1 G2GSE9613 21308353 21310049 1696 9579
No data
No data
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