Gene
pax6b
- ID
- ZDB-GENE-001031-1
- Name
- paired box 6b
- Symbol
- pax6b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Enables DNA-binding transcription factor activity, RNA polymerase II-specific. Acts upstream of or within several processes, including brain development; camera-type eye development; and endocrine pancreas development. Predicted to be located in nucleus. Is expressed in several structures, including anterior neural keel; endocrine system; immature eye; nervous system; and neural plate. Human ortholog(s) of this gene implicated in bilateral optic nerve hypoplasia; eye disease (multiple); glucose intolerance; and paranoid schizophrenia. Orthologous to human PAX6 (paired box 6).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 88 figures from 58 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:92546 (36 images)
- cb566 (10 images)
Wild Type Expression Summary
- All Phenotype Data
- 22 figures from 11 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la010682Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la029282Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa86 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa9552 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa11497 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa13392 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa15822 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa20883 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| tq253a | Allele with one point mutation | Unknown | Missense | ENU |
1 - 9 of 9
Show
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-pax6b | Okada et al., 2022 | |
| CRISPR2-pax6b | Okada et al., 2022 | |
| CRISPR3-pax6b | Okada et al., 2022 | |
| MO1-pax6a,pax6b | N/A | Takamiya et al., 2020 |
| MO1-pax6b | N/A | (5) |
| MO2-pax6a,pax6b | N/A | Takamiya et al., 2020 |
| MO2-pax6b | N/A | (4) |
| MO3-pax6b | N/A | (3) |
| MO4-pax6b | N/A | Verbruggen et al., 2010 |
| MO5-pax6b | N/A | (2) |
1 - 10 of 13
Show
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| aniridia 1 | Alliance | Aniridia | 106210 |
| aniridia 1 | Alliance | Cataract with late-onset corneal dystrophy | 106210 |
| anterior segment dysgenesis 5 | Alliance | Anterior segment dysgenesis 5, multiple subtypes | 604229 |
| autosomal dominant keratitis | Alliance | Keratitis | 148190 |
| bilateral optic nerve hypoplasia | Alliance | Optic nerve hypoplasia | 165550 |
1 - 5 of 10 Show all
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Homedomain-like superfamily | Homeobox, conserved site | Homeodomain | Paired DNA-binding domain | Paired domain | PAX family | Winged helix-like DNA-binding domain superfamily |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M2BGP0 | InterPro | 282 | |||||||
| UniProtKB:A0A8M2BG41 | InterPro | 411 | |||||||
| UniProtKB:A0A8M3B3W1 | InterPro | 398 | |||||||
| UniProtKB:Q9YHZ8 | InterPro | 437 | |||||||
| UniProtKB:A0A8M9Q1T3 | InterPro | 419 |
1 - 5 of 7 Show all
Interactions and Pathways
No data available
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(pax6a-gata2a:mCherry,pax6b-gata2a:GFP) |
| 1 | (3) | ||
| Tg(pax6b:DsRed) |
|
| 1 | (8) | |
| Tg(pax6b-gata2a:EGFP) |
|
| 1 | (2) | |
| Tg(pax6b:GFP) |
|
| 1 | (23) |
1 - 4 of 4
Show
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-157G7 | ZFIN Curated Data | |
| Contains | SNP | rs3728027 | ZFIN Curated Data | |
| Contains | SNP | rs3728028 | ZFIN Curated Data | |
| Encodes | EST | cb566 | Thisse et al., 2001 | |
| Encodes | EST | fc09c10 | ||
| Encodes | EST | fc33g08 | ||
| Encodes | EST | ibd5095 | ||
| Encodes | cDNA | MGC:92546 | ZFIN Curated Data |
1 - 8 of 8
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_131641 (1) | 1733 nt | ||
| Genomic | GenBank:BX000453 (2) | 163585 nt | ||
| Polypeptide | UniProtKB:A0A0R4IQL7 (1) | 450 aa |
| Species | Symbol | Chromosome | Accession # | Evidence |
|---|---|---|---|---|
| Human | PAX6 | 11 | Amino acid sequence comparison (5) Phylogenetic tree (1) Conserved genome location (synteny) (3) Nucleotide sequence comparison (1) | |
| Mouse | Pax6 | 2 | Amino acid sequence comparison (3) Conserved genome location (synteny) (1) Phylogenetic tree (1) Nucleotide sequence comparison (1) |
- Park, K.H., Makki, H.M.M., Kim, S.H., Chung, H.J., Jung, J. (2023) Narirutin ameliorates alcohol-induced liver injury by targeting MAPK14 in zebrafish larvae. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie. 166:115350115350
- Zhu, W., Shi, Y., Zhang, C., Peng, Y., Wan, Y., Xu, Y., Liu, X., Han, B., Zhao, S., Kuang, Y., Song, H., Qiao, J. (2023) In-frame deletion of SMC5 related with the phenotype of primordial dwarfism, chromosomal instability and insulin resistance. Clinical and translational medicine. 13:e1007e1007
- Chen, Y., Jia, J., Zhao, Q., Zhang, Y., Huang, B., Wang, L., Tian, J., Huang, C., Li, M., Li, X. (2022) Novel Loss-of-Function Variant in HNF1a Induces β-Cell Dysfunction through Endoplasmic Reticulum Stress. International Journal of Molecular Sciences. 23(21):
- Edirisinghe, S.L., Nikapitiya, C., Dananjaya, S.H.S., Park, J., Kim, D., Choi, D., De Zoysa, M. (2022) Effect of Polydeoxyribonucleotide (PDRN) Treatment on Corneal Wound Healing in Zebrafish (Danio rerio). International Journal of Molecular Sciences. 23(21):
- Fang, Y., Wan, J.P., Zhang, R.J., Sun, F., Yang, L., Zhao, S.X., Dong, M., Song, H.D. (2022) Tpo knockout in zebrafish partially recapitulates clinical manifestations of congenital hypothyroidism and reveals the involvement of TH in proper development of glucose homeostasis. General and comparative endocrinology. 323-324:114033
- Kang, Q., Zheng, J., Jia, J., Xu, Y., Bai, X., Chen, X., Zhang, X.K., Wong, F.S., Zhang, C., Li, M. (2022) Disruption of the glucagon receptor increases glucagon expression beyond α-cell hyperplasia in zebrafish. The Journal of biological chemistry. 298(12):102665
- Kantha, P., Liu, S.T., Horng, J.L., Lin, L.Y. (2022) Acute exposure to polystyrene nanoplastics impairs skin cells and ion regulation in zebrafish embryos. Aquatic toxicology (Amsterdam, Netherlands). 248:106203
- Kranert, K., Woźny, M., Podlasz, P., Wąsowicz, K., Brzuzan, P. (2022) MiR92b-3p synthetic analogue impairs zebrafish embryonic development, leading to ocular defects, decreased movement and hatching rate, and increased mortality. Journal of applied genetics. 64(1):145-157
- Laureano, A.S., Flaherty, K., Hinman, A.M., Jadali, A., Nakamura, T., Higashijima, S.I., Sabaawy, H.E., Kwan, K.Y. (2022) shox2 is required for vestibular statoacoustic neuron development. Biology Open. 11(12):
- Okada, K., Aoki, K., Tabei, T., Sugio, K., Imai, K., Bonkohara, Y., Kamachi, Y. (2022) Key sequence features of CRISPR RNA for dual-guide CRISPR-Cas9 ribonucleoprotein complexes assembled with wild-type or HiFi Cas9. Nucleic acids research. 50(5):2854-2871
1 - 10 of 115
Show