Pitx2 paired-like homeodomain transcription factor 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pitx2provided by MGI
Official Full Name: paired-like homeodomain transcription factor 2provided by MGI
Primary source: MGI:MGI:109340
See related: Ensembl:ENSMUSG00000028023 AllianceGenome:MGI:109340
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Brx1; Ptx2; Rieg; Brx1b; Otlx2; Munc30; 9430085M16Rik
Summary: Enables DNA-binding transcription factor activity, RNA polymerase II-specific; chromatin DNA binding activity; and sequence-specific DNA binding activity. Involved in several processes, including cardiac neural crest cell migration involved in outflow tract morphogenesis; deltoid tuberosity development; and left/right pattern formation. Acts upstream of or within several processes, including circulatory system development; diencephalon development; and digestive tract 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, Oct 2024]
Expression: Biased expression in bladder adult (RPKM 13.2), CNS E11.5 (RPKM 4.7) and 11 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 G3; 3 57.84 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (128993527..129013243)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (129199878..129219594)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Transcriptional programs of Pitx2 and Tfap2a/Tfap2b controlling lineage specification of mandibular epithelium during tooth initiation.
Title: Transcriptional programs of Pitx2 and Tfap2a/Tfap2b controlling lineage specification of mandibular epithelium during tooth initiation.
Interplay between Pitx2 and Pax7 temporally governs specification of extraocular muscle stem cells.
Title: Interplay between Pitx2 and Pax7 temporally governs specification of extraocular muscle stem cells.
Intergenic sequences harboring potential enhancer elements contribute to Axenfeld-Rieger syndrome by regulating PITX2.
Title: Intergenic sequences harboring potential enhancer elements contribute to Axenfeld-Rieger syndrome by regulating PITX2.
Pitx2 patterns an accelerator-brake mechanical feedback through latent TGFbeta to rotate the gut.
Title: Pitx2 patterns an accelerator-brake mechanical feedback through latent TGFβ to rotate the gut.
A missense mutation in Pitx2 leads to early-onset glaucoma via NRF2-YAP1 axis.
Title: A missense mutation in Pitx2 leads to early-onset glaucoma via NRF2-YAP1 axis.
The asymmetric Pitx2 gene regulates gut muscular-lacteal development and protects against fatty liver disease.
Title: The asymmetric Pitx2 gene regulates gut muscular-lacteal development and protects against fatty liver disease.
Paired-like homeodomain transcription factor 2 affects endometrial cell function and embryo implantation through the Wnt/beta-catenin pathway.
Title: Paired-like homeodomain transcription factor 2 affects endometrial cell function and embryo implantation through the Wnt/β-catenin pathway.
PRRX1 deficiency induces mesenchymal-epithelial transition through PITX2/miR-200-dependent SLUG/CTNNB1 regulation in hepatocellular carcinoma.
Title: PRRX1 deficiency induces mesenchymal-epithelial transition through PITX2/miR-200-dependent SLUG/CTNNB1 regulation in hepatocellular carcinoma.
single cell transcriptome analysis of Pitx2 during murine heart development
Title: A cellular atlas of Pitx2-dependent cardiac development.
Allele-specific chromatin immunoprecipitation sequencing on hybrid heterozygous enhancer knockout mice revealed that long-range interaction of an AF-associated region with the Pitx2c promoter was required for maintenance of the Pitx2c promoter chromatin state
Title: Long-range Pitx2c enhancer-promoter interactions prevent predisposition to atrial fibrillation.

Submit: New GeneRIF Correction See all GeneRIFs (112)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1)
Endonuclease-mediated (1)
Targeted (19) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Pitx2 (e-PCR), detects polymorphism
- UniSTS:507414

Pitx2 (e-PCR), detects polymorphism
- UniSTS:507415

Pitx2 (e-PCR), detects polymorphism
- UniSTS:507416

Pitx2 (e-PCR), detects polymorphism
- UniSTS:498507

PITX2_380 (e-PCR)
- UniSTS:277586

Pitx2 (e-PCR), detects polymorphism
- UniSTS:536439

Pitx2 (e-PCR), detects polymorphism
- UniSTS:546945

Pitx2 (e-PCR), detects polymorphism
- UniSTS:515978

Pitx2 (e-PCR), detects polymorphism
- UniSTS:259243

Pitx2 (e-PCR), detects polymorphism
- UniSTS:265424

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor binding	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	ISO Inferred from Sequence Orthology more info
enables chromatin DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables phosphoprotein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables ribonucleoprotein complex binding	ISO Inferred from Sequence Orthology more info
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info
enables transcription cis-regulatory region binding	ISO Inferred from Sequence Orthology more info
enables transcription factor binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in anatomical structure morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within anatomical structure morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within animal organ morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within atrial cardiac muscle tissue morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within atrioventricular valve development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within branching involved in blood vessel morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in camera-type eye development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cardiac muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cardiac muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac neural crest cell migration involved in outflow tract morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell proliferation involved in outflow tract morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in deltoid tuberosity development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in deltoid tuberosity development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within determination of left/right symmetry	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in determination of left/right symmetry	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within digestive system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic camera-type eye development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic digestive tract morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic heart tube left/right pattern formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic hindlimb morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within endodermal digestive tract morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within extraocular skeletal muscle development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in female gonad development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within heart development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hypothalamus cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in iris morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within left lung morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in left/right axis specification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lung development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in male gonad development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in neuron differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within neuron migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within odontogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in odontogenesis	ISO Inferred from Sequence Orthology more info
involved_in odontogenesis of dentin-containing tooth	IEA Inferred from Electronic Annotation more info
involved_in outflow tract morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pituitary gland development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of DNA binding	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within pulmonary myocardium development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pulmonary vein morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in response to hormone	IEA Inferred from Electronic Annotation more info
involved_in response to vitamin A	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within skeletal muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spleen development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within subthalamic nucleus development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within superior vena cava morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within vascular associated smooth muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within vasculogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ventricular cardiac muscle cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ventricular septum morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: pituitary homeobox 2

Names: ALL1-responsive protein ARP1; BRX1 homeoprotein; bicoid-related homeobox protein 1; orthodenticle-like homeobox 2; paired-like homeodomain transcription factor Munc 30; solurshin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001042502.2 → NP_001035967.1 pituitary homeobox 2 isoform c

See identical proteins and their annotated locations for NP_001035967.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) contains an alternate 5' terminal exon, lacks a portion of the 5' coding region and initiates translation at an alternate start codon compared to variant 1. The encoded protein (isoform c, also known as PITX2Calpha (PMID 18373856)) has a distinct N-terminus and is longer than isoform a.

Source sequence(s)

AV306733, BB626986, BC075660

Consensus CDS

CCDS38631.1

UniProtKB/TrEMBL

Q6DIA6

Related

ENSMUSP00000047359.10, ENSMUST00000042587.12

Conserved Domains (3) summary

COG5576
Location:40 → 149

COG5576; Homeodomain-containing transcription factor [Transcription]

pfam00046
Location:96 → 149

Homeobox; Homeobox domain

pfam03826
Location:282 → 299

OAR; OAR domain
NM_001042504.2 → NP_001035969.1 pituitary homeobox 2 isoform a

See identical proteins and their annotated locations for NP_001035969.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the shortest transcript and encodes the shortest isoform (a, also known as PITX2A).

Source sequence(s)

AC116740

Consensus CDS

CCDS38630.1

UniProtKB/Swiss-Prot

P97474

Related

ENSMUSP00000101990.5, ENSMUST00000106382.11

Conserved Domains (2) summary

pfam00046
Location:43 → 96

Homeobox; Homeobox domain

pfam03826
Location:229 → 246

OAR; OAR domain
NM_001286942.1 → NP_001273871.1 pituitary homeobox 2 isoform d

See identical proteins and their annotated locations for NP_001273871.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) contains an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded protein (isoform d, also known as PITX2B2) is longer than isoform a.

Source sequence(s)

AC116740, AM940438, BY775551

Consensus CDS

CCDS71316.1

UniProtKB/TrEMBL

B1VD84

Related

ENSMUSP00000134692.2, ENSMUST00000172645.8

Conserved Domains (2) summary

pfam00046
Location:76 → 128

Homeobox; Homeobox domain

pfam03826
Location:262 → 279

OAR; OAR domain
NM_001287048.1 → NP_001273977.1 pituitary homeobox 2 isoform e

See identical proteins and their annotated locations for NP_001273977.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) contains an alternate 5' terminal exon, lacks a portion of the 5' coding region and initiates translation at an alternate start codon compared to variant 1. The encoded protein (isoform e, also known as PITX2Cbeta) has a distinct N-terminus and is longer than isoform a. Translation begins at a downstream in-frame start codon compared to the AUG used in this transcript to produce PITX2Calpha (PMID 18373856).

Source sequence(s)

AV306733, BB626986, BC075660

UniProtKB/TrEMBL

B1VD85

Conserved Domains (3) summary

COG5576
Location:6 → 115

COG5576; Homeodomain-containing transcription factor [Transcription]

pfam00046
Location:62 → 114

Homeobox; Homeobox domain

pfam03826
Location:248 → 265

OAR; OAR domain
NM_011098.4 → NP_035228.2 pituitary homeobox 2 isoform b

See identical proteins and their annotated locations for NP_035228.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded protein (isoform b, also known as PITX2B1) is longer than isoform a.

Source sequence(s)

AC116740

Consensus CDS

CCDS17830.1

UniProtKB/Swiss-Prot

O08646, O70336, P97474, P97933, Q9JLA0, Q9QXB8, Q9R1V9, Q9Z141

Related

ENSMUSP00000133756.2, ENSMUST00000174661.9

Conserved Domains (2) summary

pfam00046
Location:89 → 142

Homeobox; Homeobox domain

pfam03826
Location:275 → 292

OAR; OAR domain