ZFIN is now using GRCz12tu for Genomic Data

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

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within several processes, including camera-type eye development; left/right pattern formation; and nervous system development. Predicted to be located in cytoplasm. Predicted to be active in 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

140 figures from 105 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	Additional Resources	Length	Homedomain-like superfamily	Homeobox, conserved site	Homeobox protein Pitx/unc30	Homeodomain	OAR domain
UniProtKB:Q9W5Z2	InterPro	314

Transcripts

Genome Browsers

NCBI Map Viewer

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	pitx2-201 (1) Ensembl	Ensembl	1,947 nt	Select Tool ZFIN BLAST
mRNA	pitx2-203 (1) Ensembl	Ensembl	1,887 nt	Select Tool ZFIN BLAST
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 ZFIN BLAST
ncRNA	pitx2-004 (1) Ensembl	Ensembl	488 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

Constructs

Marker Relationships

Sequences

Genome Browsers

NCBI Map Viewer

ZFIN

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations