AutismKB 2.0

Annotation Detail for PCDHA2


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Basic Information Top
Gene Symbol:PCDHA2 ( PCDH-ALPHA2 )
Gene Full Name: protocadherin alpha 2
Band: 5q31.3
Quick LinksEntrez ID:56146; OMIM: 606308; Uniprot ID:PCDA2_HUMAN; ENSEMBL ID: ENSG00000081842,ENSG00000204969,ENSG00000239389,EN; HGNC ID: 8668
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
257N-linked (GlcNAc...) (Potential).
265N-linked (GlcNAc...) (Potential).
362N-linked (GlcNAc...) (Potential).
548N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
257N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
265N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
362N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
548N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
173Phosphoserine(PKG)HMM predict
189Phosphoserine(CK1)HMM predict
189Phosphoserine(CK2)HMM predict
191Phosphoserine(CK1)HMM predict
193Phosphoserine(CK1)HMM predict
257N-linkedHMM predict
265N-linkedHMM predict
287Phosphoserine(CK1)HMM predict
310Phosphotyrosine(INSR)HMM predict
323O-linkedHMM predict
379Phosphoserine(CK1)HMM predict
438O-linkedHMM predict
440O-linkedHMM predict
442O-linkedHMM predict
460Phosphotyrosine(Jak)HMM predict
505Phosphoserine(CK1)HMM predict
509Phosphoserine(CK2)HMM predict
548N-linkedHMM predict
633Phosphothreonine(PKC)HMM predict
642PhosphoserineHMM predict
660O-linkedHMM predict
662O-linkedHMM predict
664O-linkedHMM predict
742O-linkedHMM predict
777Phosphoserine(ATM)HMM predict
782PhosphoserineHMM predict
782Phosphoserine(CK2)HMM predict
789Phosphoserine(CK2)HMM predict
789Phosphoserine(CK1)HMM predict
839O-linkedHMM predict
839O-linkedHMM predict
841O-linkedHMM predict
844Phosphothreonine(MAPK)HMM predict
844O-linkedHMM predict
920Phosphothreonine(PKC)HMM predict
930N-linkedHMM predict
940N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_031495
  • Location:chr5 140154627-140157245
  • 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 140154579 140155456 877 0
CTCF G2GSE9613 140155942 140156887 945 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


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