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. 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. Is expressed in several structures, including brain; dental epithelium; digestive system; head; and mesoderm. Orthologous to human PITX2 (paired like homeodomain 2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

135 figures from 101 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	Alliance	Anterior segment dysgenesis 4	137600
Axenfeld-Rieger syndrome type 1	Alliance	Axenfeld-Rieger syndrome, type 1	180500
iridogoniodysgenesis syndrome	Alliance	Anterior segment dysgenesis 4	137600
ring dermoid of cornea	Alliance	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	IPR001356	Homeodomain
Domain	IPR003654	OAR domain
Family	IPR016233	Homeobox protein Pitx/unc30
Homologous_superfamily	IPR009057	Homedomain-like superfamily

Domain Details Per Protein

Protein	Length	Homedomain-like superfamily	Homeobox, conserved site	Homeobox protein Pitx/unc30	Homeodomain	OAR domain
UniProtKB:Q9W5Z2 InterPro	314

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	pitx2-201 (1) Ensembl	Ensembl	1,947 nt	Select Tool
mRNA	pitx2-203 (1) Ensembl	Ensembl	1,887 nt	Select Tool
mRNA	pitx2-205 (1) Ensembl	Ensembl	1,721 nt	Select Tool ZFIN BLAST
mRNA	pitx2-206 (1) Ensembl	Ensembl	2,880 nt	Select Tool ZFIN BLAST
ncRNA	pitx2-003 (1) Ensembl	Ensembl	804 nt	Select Tool
ncRNA	pitx2-004 (1) Ensembl	Ensembl	488 nt	Select Tool

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations