InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PITX2

Summary

InnateDB Protein

IDBP-34296.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PITX2

Protein Name

paired-like homeodomain 2

Synonyms

ARP1; Brx1; IDG2; IGDS; IGDS2; IHG2; IRID2; Otlx2; PTX2; RGS; RIEG; RIEG1; RS;

Species

Homo sapiens

Ensembl Protein

ENSP00000304169

InnateDB Gene

IDBG-34290 (PITX2)

Protein Structure

UniProt Annotation

Function

Controls cell proliferation in a tissue-specific manner and is involved in morphogenesis. During embryonic development, exerts a role in the expansion of muscle progenitors. May play a role in the proper localization of asymmetric organs such as the heart and stomach. Isoform PTX2C is involved in left-right asymmetry the developing embryo (By similarity). {ECO:0000250}.

Subcellular Localization

Nucleus.

Disease Associations

Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]: An autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals. Additional features include aniridia, maxillary hypoplasia, hypodontia, anal stenosis, redundant periumbilical skin. {ECO:0000269PubMed:10937553, ECO:0000269PubMed:11487566, ECO:0000269PubMed:12381896, ECO:0000269PubMed:16936096, ECO:0000269PubMed:8944018}. Note=The disease is caused by mutations affecting the gene represented in this entry.Iridogoniodysgenesis 2 (IRID2) [MIM:137600]: Autosomal dominant inherited disease. {ECO:0000269PubMed:9437321, ECO:0000269PubMed:9618168}. Note=The disease is caused by mutations affecting the gene represented in this entry.Peters anomaly (PETAN) [MIM:604229]: Consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea. {ECO:0000269PubMed:10051017}. Note=The disease is caused by mutations affecting the gene represented in this entry.Ring dermoid of cornea (RDC) [MIM:180550]: An ocular disorder characterized by bilateral annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. {ECO:0000269PubMed:15591271, ECO:0000269PubMed:22224469}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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: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