AutismKB 2.0

Annotation Detail for PITX2


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Basic Information Top
Gene Symbol:PITX2 ( ARP1,Brx1,IDG2,IGDS,IGDS2,IHG2,IRID2,MGC111022,MGC20144,Otlx2,PTX2,RGS,RIEG,RIEG1,RS )
Gene Full Name: paired-like homeodomain 2
Band: 4q25
Quick LinksEntrez ID:5308; OMIM: 601542; Uniprot ID:PITX2_HUMAN; ENSEMBL ID: ENSG00000164093; HGNC ID: 9005
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
289Nuclear localization signal (Potential).
292OAR.
Location(AA) Modifications Resource
Location(AA) Modification Resource
1AcetylmethionineHMM predict
40PhosphoserineHMM predict
40Phosphoserine(CDC2)HMM predict
90Phosphothreonine(PKA)HMM predict
123N-linkedHMM predict
167Phosphotyrosine(Syk)HMM predict
176SulfotyrosineHMM predict
185O-linkedHMM predict
186O-linkedHMM predict
212Phosphoserine(ATM)HMM predict
216Phosphoserine(IKK)HMM predict
221Phosphoserine(IKK)HMM predict
223O-linkedHMM predict
247N-linkedHMM predict
264Phosphotyrosine(Syk)HMM predict
268Phosphothreonine(MAPK)HMM predict
278N-linkedHMM predict
305N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000325
  • Location:chr4 111758030-111763702
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 111745192 111745375 183 12747
CTCF G2GSE9613 111751780 111752365 585 5958
CTCF G2GSE9613 111753337 111753503 166 4611
CTCF G2GSE9613 111755557 111756087 530 2209
ER MCF7GSE19013 111745020 111745496 476 12773
hScc1 BcellGSE12603 111751816 111752328 512 5959
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 111758779 111759599 820 0
CTCF G2GSE9613 111760185 111760521 336 0
CTCF G2GSE9613 111761414 111762215 801 0
CTCF G2GSE9613 111762473 111764059 1586 0
hScc1 BcellGSE12603 111762641 111763763 1122 0
hScc1 G2GSE9613 111761377 111762025 648 0
p130 QuiescentGSE19898 111763591 111763789 198 0
p130 shRbSenescentGSE19898 111763530 111763857 327 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-26b hsa-mir-26b 2 20807761
hsa-miR-26b* hsa-mir-26b 2 20807761
No data
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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