AutismKB 2.0

Annotation Detail for PDIA2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PDIA2 ( PDA2,PDI,PDIP,PDIR )
Gene Full Name: protein disulfide isomerase family A, member 2
Band: 16p13.3
Quick LinksEntrez ID:64714; OMIM: 608012; Uniprot ID:PDIA2_HUMAN; ENSEMBL ID: ENSG00000185615; HGNC ID: 14180
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
127N-linked (GlcNAc...) (Potential).
284N-linked (GlcNAc...) (Potential).
516N-linked (GlcNAc...) (Potential).
525Prevents secretion from ER (Potential).
Location(AA) Modifications Resource
127N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
284N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
516N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
28Phosphoserine(CDC2)HMM predict
30Phosphoserine(PKC)HMM predict
30O-linkedHMM predict
71S-palmitoylHMM predict
127N-linkedHMM predict
284N-linkedHMM predict
335Phosphothreonine(PKC)HMM predict
343Phosphothreonine(PKC)HMM predict
378Phosphoserine(ATM)HMM predict
516N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006849
  • Location:chr16 273118-277209
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 274285 274495 210 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