AutismKB 2.0

Annotation Detail for ABCD2


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Basic Information Top
Gene Symbol:ABCD2 ( ABC39,ALDL1,ALDR,ALDRP,hALDR )
Gene Full Name: ATP-binding cassette, sub-family D (ALD), member 2
Band: 12q12
Quick LinksEntrez ID:225; OMIM: 601081; Uniprot ID:ABCD2_HUMAN; ENSEMBL ID: ENSG00000173208; HGNC ID: 66
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
190N-linked (GlcNAc...) (Potential).
227N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
190N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
227N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
184Phosphotyrosine(Syk)HMM predict
190N-linkedHMM predict
218Phosphoserine(ATM)HMM predict
227N-linkedHMM predict
247O-linkedHMM predict
252Phosphoserine(CDC2)HMM predict
252O-linkedHMM predict
451Phosphoserine(CK1)HMM predict
536Phosphotyrosine(Abl)HMM predict
545Phosphotyrosine(Jak)HMM predict
563SulfotyrosineHMM predict
575Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005164
  • Location:chr12 38232813-38300236
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Myc K562GSE19551 38218609 38219107 498 13956
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 38267322 38267563 241 0
CTCF CD4SISSRdata 38267322 38267563 241 0
CTCF G2GSE9613 38299515 38300029 514 0
FOXA1 MCF7GSE15244 38299998 38300358 360 0
RARA MCF7GSE15244 38299964 38300395 431 0
hScc1 CdLSGSE12603 38299443 38300510 1067 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