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Pitx2 - paired-like homeodomain transcription factor 2 Gene

Also Known as Brx1; Ptx2; Rieg; Brx1b; Otlx2; Munc30; 9430085M16Rik

Species: Mus musculus

Gene Type: protein coding

Gene ID: 18741

Summary

Enables DNA-binding transcription factor activity, RNA polymerase II-specific; chromatin DNA binding activity; and sequence-specific DNA binding activity. Involved in animal organ development and left/right axis specification. Acts upstream of or within several processes, including animal organ development; circulatory system development; and embryonic hindlimb morphogenesis. Located in cytoplasm and nucleus. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; genitourinary system; and musculature. Used to study Axenfeld-Rieger syndrome type 1 and glaucoma. Human ortholog(s) of this gene implicated in Arts syndrome; Axenfeld-Rieger syndrome; Axenfeld-Rieger syndrome type 1; anterior segment dysgenesis 4; and ring dermoid of cornea. Orthologous to human PITX2 (paired like homeodomain 2). [provided by Alliance of Genome Resources, Apr 2022]

Pitx2 Products (5)

mRNA	Protein	Name
NM_001042502.2	NP_001035967.1	pituitary homeobox 2 isoform c
NM_001042504.2	NP_001035969.1	pituitary homeobox 2 isoform a
NM_001286942.1	NP_001273871.1	pituitary homeobox 2 isoform d
NM_001287048.1	NP_001273977.1	pituitary homeobox 2 isoform e
NM_011098.4	NP_035228.2	pituitary homeobox 2 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	11157981	MGI
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	21035439	MGI
enables chromatin DNA binding	IDA IDA: Inferred from direct assay	21035439	MGI
enables chromatin binding	IDA IDA: Inferred from direct assay	11157981	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	12464179	MGI
enables sequence-specific DNA binding	IDA IDA: Inferred from direct assay	20816801	MGI

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within Wnt signaling pathway	IDA IDA: Inferred from direct assay	12464179	MGI
acts upstream of or within anatomical structure morphogenesis	IMP IMP: Inferred from mutant phenotype	10499585	MGI
acts upstream of or within animal organ morphogenesis	IMP IMP: Inferred from mutant phenotype	10572050	MGI
acts upstream of or within atrial cardiac muscle tissue morphogenesis	IMP IMP: Inferred from mutant phenotype	11493526	MGI
acts upstream of or within atrioventricular valve development	IMP IMP: Inferred from mutant phenotype	18292603	MGI
acts upstream of or within branching involved in blood vessel morphogenesis	IMP IMP: Inferred from mutant phenotype	12397115	MGI
acts upstream of or within cardiac muscle cell differentiation	IMP IMP: Inferred from mutant phenotype	12397115	MGI
acts upstream of or within cardiac muscle tissue development	IMP IMP: Inferred from mutant phenotype	16836994	MGI
involved in cardiac neural crest cell migration involved in outflow tract morphogenesis	IMP IMP: Inferred from mutant phenotype	12464179	MGI
acts upstream of or within cell proliferation involved in outflow tract morphogenesis	IMP IMP: Inferred from mutant phenotype	16836994	MGI
involved in deltoid tuberosity development	IMP IMP: Inferred from mutant phenotype	18312615	MGI
acts upstream of or within determination of left/right symmetry	IMP IMP: Inferred from mutant phenotype	10498698	MGI
involved in determination of left/right symmetry	IMP IMP: Inferred from mutant phenotype	9708732	MGI
acts upstream of or within digestive system development	IMP IMP: Inferred from mutant phenotype	11493526	MGI
acts upstream of or within embryonic camera-type eye development	IMP IMP: Inferred from mutant phenotype	10498698	MGI
acts upstream of or within embryonic digestive tract morphogenesis	IMP IMP: Inferred from mutant phenotype	21550054	MGI
involved in embryonic heart tube left/right pattern formation	IMP IMP: Inferred from mutant phenotype	17234970	MGI
acts upstream of or within embryonic hindlimb morphogenesis	IGI IGI: Inferred from genetic interaction	18231602	MGI
acts upstream of or within endodermal digestive tract morphogenesis	IMP IMP: Inferred from mutant phenotype	21550054	MGI
acts upstream of or within extraocular skeletal muscle development	IMP IMP: Inferred from mutant phenotype	16638982	MGI
acts upstream of or within heart development	IGI IGI: Inferred from genetic interaction	16556915	MGI
acts upstream of or within heart development	IMP IMP: Inferred from mutant phenotype	10498698	MGI
acts upstream of or within hypothalamus cell migration	IMP IMP: Inferred from mutant phenotype	18206388	MGI
acts upstream of or within in utero embryonic development	IMP IMP: Inferred from mutant phenotype	11493526	MGI
acts upstream of or within left lung morphogenesis	IMP IMP: Inferred from mutant phenotype	11493526	MGI
involved in left/right axis specification	IMP IMP: Inferred from mutant phenotype	15475956	MGI
acts upstream of or within lung development	IMP IMP: Inferred from mutant phenotype	10498698	MGI
acts upstream of or within neuron migration	IMP IMP: Inferred from mutant phenotype	18206388	MGI
acts upstream of or within odontogenesis	IMP IMP: Inferred from mutant phenotype	10498698	MGI
involved in outflow tract morphogenesis	IMP IMP: Inferred from mutant phenotype	12464179	MGI
acts upstream of or within pituitary gland development	IMP IMP: Inferred from mutant phenotype	10498698	MGI
acts upstream of or within positive regulation of DNA binding	IDA IDA: Inferred from direct assay	21035439	MGI
acts upstream of or within positive regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	17767158	MGI
involved in positive regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	12464179	MGI
acts upstream of or within positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	11157981	MGI
acts upstream of or within pulmonary myocardium development	IMP IMP: Inferred from mutant phenotype	17823370	MGI
acts upstream of or within pulmonary vein morphogenesis	IMP IMP: Inferred from mutant phenotype	11493526	MGI
acts upstream of or within regulation of cell migration	IMP IMP: Inferred from mutant phenotype	12397115	MGI
acts upstream of or within regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	12464179	MGI
acts upstream of or within regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	12464179	MGI
acts upstream of or within regulation of transcription by RNA polymerase II	IGI IGI: Inferred from genetic interaction	20816801	MGI
acts upstream of or within skeletal muscle tissue development	IMP IMP: Inferred from mutant phenotype	10572050	MGI
involved in spleen development	IMP IMP: Inferred from mutant phenotype	15475956	MGI
acts upstream of or within subthalamic nucleus development	IMP IMP: Inferred from mutant phenotype	18206388	MGI
acts upstream of or within superior vena cava morphogenesis	IMP IMP: Inferred from mutant phenotype	11493526	MGI
acts upstream of or within vascular associated smooth muscle cell differentiation	IMP IMP: Inferred from mutant phenotype	18458156	MGI
acts upstream of or within vasculogenesis	IMP IMP: Inferred from mutant phenotype	18231602	MGI
acts upstream of or within ventricular cardiac muscle cell development	IMP IMP: Inferred from mutant phenotype	18292603	MGI
acts upstream of or within ventricular septum morphogenesis	IMP IMP: Inferred from mutant phenotype	18292603	MGI

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	19531352	MGI
located in nucleus	IDA IDA: Inferred from direct assay	10822271	MGI
part of transcription regulator complex	IDA IDA: Inferred from direct assay	12464179	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
pituitary homeobox 2	ALL1-responsive protein ARP1 BRX1 homeoprotein orthodenticle-like homeobox 2 paired-like homeodomain transcription factor Munc 30 solurshin

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10582	PITX2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22730	Pitx2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Pitx2	NCBI	NCBI:5308