AutismKB 2.0

Annotation Detail for ABCA2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ABCA2 ( ABC2,MGC129761 )
Gene Full Name: ATP-binding cassette, sub-family A (ABC1), member 2
Band: 9q34.3
Quick LinksEntrez ID:20; OMIM: 600047; Uniprot ID:Q9HC28_HUMAN; ENSEMBL ID: ENSG00000107331; HGNC ID: 32
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_001606
  • Location:chr9 139021506-139042560
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TFAP2C MCF7GSE21234 139020662 139021278 616 537
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TFAP2C MCF7GSE21234 139039235 139040795 1560 0
hScc1 BcellGSE12603 139023076 139023645 569 0
hScc1 BcellGSE12603 139023979 139025321 1342 0
hScc1 BcellGSE12603 139026184 139026856 672 0
hScc1 BcellGSE12603 139027111 139027826 715 0
hScc1 BcellGSE12603 139031586 139032234 648 0
hScc1 BcellGSE12603 139034003 139034375 372 0
hScc1 BcellGSE12603 139036816 139036993 177 0
hScc1 BcellGSE12603 139037932 139039043 1111 0
hScc1 BcellGSE12603 139039678 139040576 898 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