InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PITX2

Summary

InnateDB Protein

IDBP-34294.7

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

ENSP00000347192

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: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:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0008134	transcription factor 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:0003253	cardiac neural crest cell migration involved in outflow tract morphogenesis
GO:0006355	regulation of transcription, DNA-templated
GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0007368	determination of left/right symmetry
GO:0035315	hair cell differentiation
GO:0035993	deltoid tuberosity development
GO:0042476	odontogenesis
GO:0043010	camera-type eye development
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048536	spleen development
GO:0060126	somatotropin secreting cell differentiation
GO:0060127	prolactin secreting cell differentiation
GO:0061072	iris morphogenesis
GO:0061325	cell proliferation involved in outflow tract morphogenesis
GO:0070986	left/right axis specification