Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Pitx2. (This text reflects annotations as of Tuesday, July 8, 2014.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Pitx2
  • participates in the following biological processes:
    • myoblast fusion ^[]
    • positive regulation of DNA binding ^{[, ]}
    • positive regulation of myoblast proliferation ^[]
    • positive regulation of transcription from RNA polymerase II promoter ^{[, ]}
    • regulation of transcription, DNA-templated ^[]
    • transcription from RNA polymerase II promoter ^[]
    • Wnt signaling pathway ^[]
  • performs the following molecular functions:
    • chromatin binding ^{[, ]}
    • chromatin DNA binding ^[]
    • DNA binding ^[]
    • sequence-specific DNA binding ^[]
    • sequence-specific DNA binding RNA polymerase II transcription factor activity ^{[, ]}
    • sequence-specific DNA binding transcription factor activity ^{[, ]}
  • is located in the following cellular components:
    • cytoplasm ^[]
    • nucleus ^{[, , ]}
    • transcription factor complex ^[]
• The gene product of Pitx2 has been shown to bind to the gene products of Kat5. ^{[, , ]}
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Pitx2
  • participates in the following biological processes:
    • anatomical structure morphogenesis ^[]
    • atrial cardiac muscle tissue morphogenesis ^[]
    • atrioventricular valve development ^[]
    • cardiac muscle cell differentiation ^{[, ]}
    • cardiac muscle tissue development ^[]
    • cardiac neural crest cell migration involved in outflow tract morphogenesis ^[]
    • cell proliferation involved in outflow tract morphogenesis ^{[, ]}
    • deltoid tuberosity development ^[]
    • determination of left/right symmetry ^{[, , , , , , ]}
    • digestive system development ^[]
    • embryonic camera-type eye development ^{[, ]}
    • embryonic digestive tract morphogenesis ^[]
    • endodermal digestive tract morphogenesis ^[]
    • extraocular skeletal muscle development ^{[, ]}
    • heart development ^{[, , , , , ]}
    • hypothalamus cell migration ^[]
    • in utero embryonic development ^[]
    • left lung morphogenesis ^[]
    • left/right axis specification ^[]
    • lung development ^{[, , , ]}
    • neuron migration ^[]
    • odontogenesis ^{[, ]}
    • organ morphogenesis ^[]
    • patterning of blood vessels ^[]
    • pituitary gland development ^{[, ]}
    • positive regulation of transcription, DNA-templated ^[]
    • pulmonary myocardium development ^[]
    • pulmonary vein morphogenesis ^[]
    • regulation of cell migration ^[]
    • regulation of cell proliferation ^[]
    • skeletal muscle tissue development ^[]
    • spleen development ^[]
    • subthalamic nucleus development ^[]
    • superior vena cava morphogenesis ^[]
    • vascular smooth muscle cell differentiation ^[]
    • vasculogenesis ^[]
    • ventricular cardiac muscle cell development ^[]
    • ventricular septum morphogenesis ^[]
• Researchers have inferred, based on genetic interactions, that the gene product of Pitx2
  • participates in the following biological processes:
    • embryonic hindlimb morphogenesis based on interactions with Pitx1 ^[]
    • heart development based on interactions with Tbx1 ^[]
    • regulation of transcription from RNA polymerase II promoter based on interactions with Tbx1 ^[]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Pitx2:
  • participates in the following biological processes:
    • camera-type eye development
    • deltoid tuberosity development
    • iris morphogenesis
    • negative regulation of transcription from RNA polymerase II promoter
    • odontogenesis
    • positive regulation of transcription from RNA polymerase II promoter
    • regulation of transcription from RNA polymerase II promoter
    • regulation of transcription, DNA-templated
  • performs the following molecular functions:
    • phosphoprotein binding
    • protein homodimerization activity
    • RNA polymerase II activating transcription factor binding
    • RNA polymerase II core promoter proximal region sequence-specific DNA binding
    • RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
    • RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
    • RNA polymerase II transcription coactivator activity
    • RNA polymerase II transcription factor binding
    • RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription
    • sequence-specific DNA binding transcription factor activity
    • transcription factor binding
    • transcription regulatory region sequence-specific DNA binding
  • is located in the following cellular components:
    • nucleus
    • transcription factor complex

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Pitx2 indicates that it:
  • participates in the following biological processes:
    • multicellular organismal development

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References

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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