Version 5.4
Homo sapiens Gene: PITX2
Summary
InnateDB Gene IDBG-34290.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PITX2
Gene Name paired-like homeodomain 2
Synonyms ARP1; Brx1; IDG2; IGDS; IGDS2; IHG2; IRID2; Otlx2; PTX2; RGS; RIEG; RIEG1; RS
Species Homo sapiens
Ensembl Gene ENSG00000164093
Encoded Proteins
IDBP-34292
paired-like homeodomain 2
IDBP-34294
paired-like homeodomain 2
IDBP-34296
paired-like homeodomain 2
IDBP-241262
paired-like homeodomain 2
IDBP-241264
paired-like homeodomain 2
IDBP-479018
paired-like homeodomain 2
IDBP-481878
paired-like homeodomain 2
IDBP-813399
paired-like homeodomain 2
IDBP-813401
paired-like homeodomain 2
IDBP-813402
paired-like homeodomain 2
IDBP-813403
paired-like homeodomain 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. The encoded protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. This protein plays a role in the terminal differentiation of somatotroph and lactotroph cell phenotypes, is involved in the development of the eye, tooth and abdominal organs, and acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. Mutations in this gene are associated with Axenfeld-Rieger syndrome, iridogoniodysgenesis syndrome, and sporadic cases of Peters anomaly. A similar protein in other vertebrates is involved in the determination of left-right asymmetry during development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:110617423-110642123
Strand Reverse strand
Band q25
Transcripts
ENST00000354925 ENSP00000347004
ENST00000355080 ENSP00000347192
ENST00000306732 ENSP00000304169
ENST00000394598 ENSP00000378097
ENST00000394595 ENSP00000378095
ENST00000511837 ENSP00000421454
ENST00000511990 ENSP00000424142
ENST00000556049
ENST00000557119 ENSP00000475617
ENST00000607868
ENST00000614423 ENSP00000481951
ENST00000616641 ENSP00000484909
ENST00000613094 ENSP00000484763
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 19 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
Experimentally validated
Total 19 [view]
Protein-Protein 18 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 6 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000976 transcription regulatory region sequence-specific DNA binding
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0001078 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
GO:0001085 RNA polymerase II transcription factor binding
GO:0001102 RNA polymerase II activating transcription factor binding
GO:0001105 RNA polymerase II transcription coactivator activity
GO:0001191 RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0031490 chromatin DNA binding
GO:0042803 protein homodimerization activity
GO:0043021 ribonucleoprotein complex binding
GO:0043565 sequence-specific DNA binding
GO:0051219 phosphoprotein binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001569 patterning of blood vessels
GO:0001570 vasculogenesis
GO:0001701 in utero embryonic development
GO:0001764 neuron migration
GO:0002074 extraocular skeletal muscle development
GO:0003171 atrioventricular valve development
GO:0003253 cardiac neural crest cell migration involved in outflow tract morphogenesis
GO:0003350 pulmonary myocardium development
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0007275 multicellular organismal development
GO:0007368 determination of left/right symmetry
GO:0007420 brain development
GO:0007507 heart development
GO:0007519 skeletal muscle tissue development
GO:0007520 myoblast fusion
GO:0008584 male gonad development
GO:0008585 female gonad development
GO:0009653 anatomical structure morphogenesis
GO:0009725 response to hormone
GO:0009887 organ morphogenesis
GO:0016055 Wnt signaling pathway
GO:0021763 subthalamic nucleus development
GO:0021855 hypothalamus cell migration
GO:0021983 pituitary gland development
GO:0030182 neuron differentiation
GO:0030324 lung development
GO:0030334 regulation of cell migration
GO:0031076 embryonic camera-type eye development
GO:0033189 response to vitamin A
GO:0035116 embryonic hindlimb morphogenesis
GO:0035315 hair cell differentiation
GO:0035886 vascular smooth muscle cell differentiation
GO:0035993 deltoid tuberosity development
GO:0042127 regulation of cell proliferation
GO:0042475 odontogenesis of dentin-containing tooth
GO:0042476 odontogenesis
GO:0043010 camera-type eye development
GO:0043388 positive regulation of DNA binding
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048536 spleen development
GO:0048557 embryonic digestive tract morphogenesis
GO:0048738 cardiac muscle tissue development
GO:0055007 cardiac muscle cell differentiation
GO:0055009 atrial cardiac muscle tissue morphogenesis
GO:0055015 ventricular cardiac muscle cell development
GO:0055123 digestive system development
GO:0060126 somatotropin secreting cell differentiation
GO:0060127 prolactin secreting cell differentiation
GO:0060412 ventricular septum morphogenesis
GO:0060460 left lung morphogenesis
GO:0060577 pulmonary vein morphogenesis
GO:0060578 superior vena cava morphogenesis
GO:0061031 endodermal digestive tract morphogenesis
GO:0061072 iris morphogenesis
GO:0061325 cell proliferation involved in outflow tract morphogenesis
GO:0070986 left/right axis specification
GO:2000288 positive regulation of myoblast proliferation
Cellular Component
GO:0005634 nucleus
GO:0005667 transcription factor complex
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000028023
View Gene Order
ENSBTAG00000009059
Not yet available
Pathways
NETPATH
REACTOME
KEGG
hsa04350
TGF-beta signaling pathway pathway
INOH
PID NCI
betacatenin_nuc_pathway
Regulation of nuclear beta catenin signaling and target gene transcription
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_000325 NM_001204397 NM_001204398 NM_001204399 NM_153426 NM_153427 XM_006714235
HUGO
OMIM
CCDS CCDS3692 CCDS3693 CCDS3694
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca