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 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
-
- All Expression Data
- 138 figures from 103 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 34 figures from 8 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| mw709 | Allele with one deletion | Unknown | Premature Stop | TALEN | |
| sa250 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa22522 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sny3 | Allele with one deletion | Unknown | Frameshift, Premature Stop | TALEN | |
| sny6 | Allele with one delins | Unknown | Frameshift, Premature Stop | TALEN | |
| sny7 | Allele with one deletion | Unknown | Frameshift, Premature Stop | TALEN | |
| sny15 | Allele with one delins | Unknown | Frameshift, Premature Stop | TALEN | |
| ups6 | Allele with one delins | Unknown | Frameshift | TALEN | |
| zsc2 | Allele with one point mutation | Unknown | Unknown | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-pitx2 | (3) | |
| CRISPR2-pitx2 | (2) | |
| CRISPR3-pitx2 | Zhang et al., 2024 | |
| CRISPR4-pitx2 | Zheng et al., 2025 | |
| MO1-pitx2 | N/A | Lupo et al., 2011 |
| MO2-pitx2 | N/A | Liu et al., 2012 |
| MO3-pitx2 | N/A | Liu et al., 2012 |
| MO4-pitx2 | N/A | Liu et al., 2012 |
| MO5-pitx2 | N/A | (3) |
| MO6-pitx2 | N/A | Bohnsack et al., 2012 |
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Human Disease
| 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 |
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Domain, Family, and Site Summary
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 |
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Interactions and Pathways
No data available
Plasmids
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(pitx2:EGFP) |
|
| 1 | (8) | |
| Tg2(-2.6pitx2:GFP) |
|
| 1 | (4) | |
| Tg(myl7:pitx2-2A-NLS-GFP) |
| 1 | Collins et al., 2019 |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEYP-96B6 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:110508 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_130975 (1) | 1963 nt | ||
| Genomic | GenBank:BX511223 (2) | 190254 nt | ||
| Polypeptide | UniProtKB:Q9W5Z2 (1) | 314 aa |
- Zheng, S., Liu, Y., Xia, X., Xiao, J., Ma, H., Yuan, X., Zhang, Y., Chen, Z., Peng, G., Li, W., Fei, J.F., Liu, Y. (2025) Sequence Context-Agnostic TadA-Derived Cytosine Base Editors for Genome-Wide Editing in Zebrafish. Advanced science (Weinheim, Baden-Wurttemberg, Germany). :e2411478e2411478
- Kurup, A.J., Bailet, F., Fürthauer, M. (2024) Myosin1G promotes Nodal signaling to control zebrafish left-right asymmetry. Nature communications. 15:65476547
- Wang, P., Shi, W., Liu, S., Shi, Y., Jiang, X., Li, F., Chen, S., Sun, K., Xu, R. (2024) ccdc141 is required for left-right axis development by regulating cilia formation in the Kupffer's vesicle of zebrafish. Journal of genetics and genomics = Yi chuan xue bao. 51(9):934-946
- Zhang, Y., Liu, Y., Qin, W., Zheng, S., Xiao, J., Xia, X., Yuan, X., Zeng, J., Shi, Y., Zhang, Y., Ma, H., Varshney, G.K., Fei, J.F., Liu, Y. (2024) Cytosine base editors with increased PAM and deaminase motif flexibility for gene editing in zebrafish. Nature communications. 15:95269526
- England, S.J., Rusnock, A.K., Mujcic, A., Kowalchuk, A., de Jager, S., Hilinski, W.C., Juárez-Morales, J.L., Smith, M.E., Grieb, G., Banerjee, S., Lewis, K.E. (2023) Molecular analyses of zebrafish V0v spinal interneurons and identification of transcriptional regulators downstream of Evx1 and Evx2 in these cells. Neural Development. 18:88
- Jackson, A., Lin, S.J., Jones, E.A., Chandler, K.E., Orr, D., Moss, C., Haider, Z., Ryan, G., Holden, S., Harrison, M., Burrows, N., Jones, W.D., Loveless, M., Petree, C., Stewart, H., Low, K., Donnelly, D., Lovell, S., Drosou, K., Genomics England Research Consortium, Solve-RD consortium, Varshney, G.K., Banka, S. (2023) Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14. HGG advances. 4:100186100186
- Serres, M.P., Shaughnessy, R., Escot, S., Hammich, H., Cuvelier, F., Salles, A., Rocancourt, M., Verdon, Q., Gaffuri, A.L., Sourigues, Y., Malherbe, G., Velikovsky, L., Chardon, F., Sassoon, N., Tinevez, J.Y., Callebaut, I., Formstecher, E., Houdusse, A., David, N.B., Pylypenko, O., Echard, A. (2023) MiniBAR/GARRE1 is a dual Rac and Rab effector required for ciliogenesis. Developmental Cell. 58(22):2477-2494.e8
- Derrick, C.J., Santos-Ledo, A., Eley, L., Henderson, D.J., Chaudhry, B. (2022) Sequential action of jnk genes establishes the embryonic left-right axis. Development (Cambridge, England). 149(9):
- Liu, S., Wei, W., Wang, P., Liu, C., Jiang, X., Li, T., Li, F., Wu, Y., Chen, S., Sun, K., Xu, R. (2022) LOF variants identifying candidate genes of laterality defects patients with congenital heart disease. PLoS Genetics. 18:e1010530e1010530
- Ouyang, S., Qin, W.M., Niu, Y.J., Ding, Y.H., Deng, Y. (2022) An EGFP Knock-in Zebrafish Experimental Model Used in Evaluation of the Amantadine Drug Safety During Early Cardiogenesis. Frontiers in cardiovascular medicine. 9:839166
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