AutismKB 2.0

Annotation Detail for SLC5A12


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Basic Information Top
Gene Symbol:SLC5A12 ( DKFZp564G223,MGC52019,SMCT2 )
Gene Full Name: solute carrier family 5 (sodium/glucose cotransporter), member 12
Band: 11p14.2
Quick LinksEntrez ID:159963; OMIM: 612455; Uniprot ID:SC5AC_HUMAN; ENSEMBL ID: ENSG00000148942; HGNC ID: 28750
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
480N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_178498
  • Location:chr11 26669780-26700121
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 26706675 26706731 56 6582
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 DLD1GSE12801 26682148 26682975 827 0
Oct1 H2O2-HelaGSE14283 26677465 26677506 41 0
Oct1 HelaGSE14283 26671358 26671386 28 0
Oct1 HelaGSE14283 26677610 26677647 37 0
Oct1 HelaGSE14283 26678762 26678793 31 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