Gene

pitx2

ID

ZDB-GENE-990714-27

Name

paired-like homeodomain 2

Symbol

pitx2 Nomenclature History

Previous Names

pitx2a
pitx2b
pitx2c
zpitx2c
zgc:110508

Type

protein_coding_gene

Location

Chr: 14 Mapping Details/Browsers

Description

Predicted to have RNA polymerase II cis-regulatory region sequence-specific DNA binding activity and RNA polymerase II transcription factor binding activity. Involved in several processes, including animal organ development; face morphogenesis; and prechordal plate formation. Predicted to localize to nucleus. Is expressed in several structures, including brain; dental epithelium; digestive system; head; and mesoderm. Used to study Axenfeld-Rieger syndrome. 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).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

134 figures from 100 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 34 figures from 8 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With pitx2 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
		Anterior segment dysgenesis 4	137600
		Axenfeld-Rieger syndrome, type 1	180500
		Ring dermoid of cornea	180550

Associated With pitx2 Via Experimental Models

Human Disease	Fish	Conditions	Citations
Axenfeld-Rieger syndrome	WT + MO6-pitx2	standard conditions	Bohnsack et al., 2012
Axenfeld-Rieger syndrome	pitx2^mw709/mw709	standard conditions	Hendee et al., 2018
Axenfeld-Rieger syndrome	pitx2^sny7/sny7 (AB/TU)	standard conditions	Ji et al., 2016
Axenfeld-Rieger syndrome	pitx2^sny6/sny6 (AB/TU)	standard conditions	Ji et al., 2016

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR017970	Homeobox, conserved site
Domain	IPR003654	OAR domain
Family	IPR016233	Homeobox protein Pitx/unc30

Domain Details Per Protein

Protein	Length	Homeobox, conserved site	Homeobox protein Pitx/unc30	OAR domain
UniProtKB:Q9W5Z2 InterPro	314

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	pitx2-201 (1) Ensembl	Havana	1947 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	pitx2-203 (1) Ensembl	Havana	1887 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	pitx2-205 (1) Ensembl	Ensembl	1721 nt	Select Tool ZFIN BLAST
mRNA	pitx2-206 (1) Ensembl	Ensembl	2880 nt	Select Tool ZFIN BLAST
ncRNA	pitx2-003 (1) Ensembl	Havana	804 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	pitx2-004 (1) Ensembl	Havana	488 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations