Pitx2 paired-like homeodomain 2 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Pitx2provided by RGD
Official Full Name: paired-like homeodomain 2provided by RGD
Primary source: RGD:3331
See related: EnsemblRapid:ENSRNOG00000010681 AllianceGenome:RGD:3331
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Ptx2; Pitx-2; Pitx2c
Summary: Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including gonad development; positive regulation of transcription by RNA polymerase II; and response to vitamin A. Predicted to be located in cytoplasm and nucleoplasm. Predicted to be part of transcription regulator complex. Predicted to be active in nucleus. Biomarker of autosomal dominant polycystic kidney disease and hypothyroidism. 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, Nov 2024]
Expression: Biased expression in Muscle (RPKM 32.3), Kidney (RPKM 19.2) and 4 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 2q42

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	2	NC_086020.1 (220391417..220411588)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	2	NC_051337.1 (217717738..217737293)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	2	NC_005101.4 (233602732..233621059)

Chromosome 2 - NC_086020.1 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pitx2 suppression at meiotic stages associates with seasonal inhibition of testis development in Rattus norvegicus caraco.
Title: Pitx2 suppression at meiotic stages associates with seasonal inhibition of testis development in Rattus norvegicus caraco.
The present study suggests the presence of age-dependent left atrial Pitx2 down-regulation in SHRs
Title: Long-standing arterial hypertension is associated with Pitx2 down-regulation in a rat model of spontaneous atrial tachyarrhythmias.
Data suggest that up-regulation of Pitx2 expression induces decrease in cell proliferation associated with an accumulation of neural stem cells in G1 phase; Pitx2 expression causes up-regulation in expression of cell cycle inhibitor p21 (Cdkn1a).
Title: Pitx2 expression promotes p21 expression and cell cycle exit in neural stem cells.
Smad3 and Pitx2 cooperate in stimulation of FSHbeta gene transcription.
Title: Smad3 and Pitx2 cooperate in stimulation of FSHbeta gene transcription.
The present study reveals that the reduced Pitx2 expression in hypothyroid ovary could lead to ovarian dysfunction by modulating the Pitx2-Plod2 interaction.
Title: Involvement of Pitx2, a homeodomain transcription factor, in hypothyroidism associated reproductive disorders.
the paired-like homeobox transcription factors Pitx1 and Pitx2 are factors functionally activating the proximal human prolactin promoter (hPRL-164luc)
Title: Pitx factors are involved in basal and hormone-regulated activity of the human prolactin promoter.

Submit: New GeneRIF Correction

General gene information

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Markers

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

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

PITX2_380 (e-PCR)
- UniSTS:277586

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	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	IEA Inferred from Electronic Annotation more info
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	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II-specific DNA-binding transcription factor binding	ISO Inferred from Sequence Orthology more info
enables chromatin DNA binding	ISO Inferred from Sequence Orthology more info
enables chromatin binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables phosphoprotein binding	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
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

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

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
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	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
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: homeobox protein PITX2; homeodomain transcription factor 2; paired-like homeodomain transcription factor 2; rPtx2

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_001042505.1 → NP_001035970.1 pituitary homeobox 2 isoform 1

See identical proteins and their annotated locations for NP_001035970.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) differs in the 5' UTR and 5' coding region compared to variant 2. The resulting protein (isoform 1) is longer and has a distinct N-terminus compared to isoform 2.

Source sequence(s)

JAXUCZ010000002

UniProtKB/Swiss-Prot

Q9R0W1

UniProtKB/TrEMBL

A6HVN4

Related

ENSRNOP00000046259.3, ENSRNOT00000051009.6

Conserved Domains (2) summary

pfam00046
Location:96 → 149

Homeobox; Homeobox domain

pfam03826
Location:282 → 299

OAR; OAR domain
NM_019334.2 → NP_062207.1 pituitary homeobox 2 isoform 2

See identical proteins and their annotated locations for NP_062207.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) represents the shorter transcript and encodes the shorter protein (isoform 2).

Source sequence(s)

AF039832

UniProtKB/TrEMBL

A6HVN3

Related

ENSRNOP00000043402.3, ENSRNOT00000044232.8

Conserved Domains (2) summary

pfam00046
Location:43 → 96

Homeobox; Homeobox domain

pfam03826
Location:229 → 246

OAR; OAR domain