AutismKB 2.0

Annotation Details 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
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IDA-nucleus19251162
GO:0005654TAS-nucleoplasm-
GO:0005667IDA-transcription factor complex15385555
GO:0005737IEA-cytoplasm-
GO ID Evidence Qualifier GO_term References
GO:0000976IDA-transcription regulatory region sequence-specific DNA binding9685346
GO:0000978IEA-RNA polymerase II core promoter proximal region sequence-specific DNA binding-
GO:0001077IEA-transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding-
GO:0001102IPI-RNA polymerase II activating transcription factor binding9685346
GO:0001105IDA-RNA polymerase II transcription coactivator activity9685346
GO:0003700IDA-transcription factor activity, sequence-specific DNA binding15385555
GO:0005515IPI-protein binding16449236
GO:0008134IPI-transcription factor binding15385555
GO:0031490IEA-chromatin DNA binding-
GO ID Evidence Qualifier GO_term References
GO:0001569IEA-branching involved in blood vessel morphogenesis-
GO:0001570IEA-vasculogenesis-
GO:0001701IEA-in utero embryonic development-
GO:0001764IEA-neuron migration-
GO:0002074IEA-extraocular skeletal muscle development-
GO:0003171IEA-atrioventricular valve development-
GO:0003253ISS-cardiac neural crest cell migration involved in outflow tract morphogenesis-
GO:0003350IEA-pulmonary myocardium development-
GO:0006355IDA-regulation of transcription, DNA-templated15385555
GO:0006357IDA-regulation of transcription from RNA polymerase II promoter23975681
GO:0006366IEA-transcription from RNA polymerase II promoter-
GO:0007368ISS-determination of left/right symmetry-
GO:0007520IEA-myoblast fusion-
GO:0008584IEA-male gonad development-
GO:0008585IEA-female gonad development-
GO:0009725IEA-response to hormone-
GO:0016055IEA-Wnt signaling pathway-
GO:0021763IEA-subthalamic nucleus development-
GO:0021855IEA-hypothalamus cell migration-
GO:0030334IEA-regulation of cell migration-
GO:0031076IEA-embryonic camera-type eye development-
GO:0033189IEA-response to vitamin A-
GO:0035116IEA-embryonic hindlimb morphogenesis-
GO:0035315IC-hair cell differentiation19251162
GO:0035886IEA-vascular smooth muscle cell differentiation-
GO:0035993IMP-deltoid tuberosity development18312615
GO:0042475IEA-odontogenesis of dentin-containing tooth-
GO:0042476IMP-odontogenesis14630904
GO:0043010IMP-camera-type eye development9618168
GO:0043388IEA-positive regulation of DNA binding-
GO:0045944IDA-positive regulation of transcription from RNA polymerase II promoter9685346
GO:0045944TAS-positive regulation of transcription from RNA polymerase II promoter-
GO:0048536ISS-spleen development-
GO:0048557IEA-embryonic digestive tract morphogenesis-
GO:0055009IEA-atrial cardiac muscle tissue morphogenesis-
GO:0055015IEA-ventricular cardiac muscle cell development-
GO:0060126TAS-somatotropin secreting cell differentiation10372733
GO:0060127TAS-prolactin secreting cell differentiation10372733
GO:0060412IEA-ventricular septum morphogenesis-
GO:0060460IEA-left lung morphogenesis-
GO:0060577IEA-pulmonary vein morphogenesis-
GO:0060578IEA-superior vena cava morphogenesis-
GO:0061031IEA-endodermal digestive tract morphogenesis-
GO:0061072IMP-iris morphogenesis9437321
GO:0061325ISS-cell proliferation involved in outflow tract morphogenesis-
GO:0070986ISS-left/right axis specification-
GO:2000288IEA-positive regulation of myoblast proliferation-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
PITX2CTNNB111132512464179 Affinity Capture-Western
PITX2CTNNB110788012464179 Affinity Capture-Western
PITX2HDAC110931512464179 Affinity Capture-Western
PITX2HDAC111132512464179 Affinity Capture-Western
PITX2SMAD311026318339718 Affinity Capture-Western
PITX2SMAD311132518339718 Affinity Capture-Western
PITX2MSX211132511763998 Phenotypic Suppression
PITX2MSX211059411763998 Phenotypic Suppression
PITX2PITX21113259685346 11763998 Affinity Capture-Western; Reconstituted Complex
HERC5PITX211936516884686 Reconstituted Complex
HERC5PITX211132516884686 Reconstituted Complex
TRIM25PITX211350016884686 20211142 Reconstituted Complex; Two-hybrid
TRIM25PITX211132516884686 20211142 Reconstituted Complex; Two-hybrid
ZNHIT3PITX211473620211142 Two-hybrid
ZNHIT3PITX211132520211142 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:109340
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-990714-27'