Gene
irx6a
- ID
- ZDB-GENE-040712-5
- Name
- iroquois homeobox 6a
- Symbol
- irx6a Nomenclature History
- Previous Names
-
- ziro6a (1)
- zgc:109993
- Type
- protein_coding_gene
- Location
- Chr: 7 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. Predicted to be involved in cell development; neuron differentiation; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within regulation of DNA-templated transcription. Predicted to be active in nucleus. Is expressed in brain; notochord; pharyngeal arch; and retinal ganglion cell layer. Orthologous to human IRX6 (iroquois homeobox 6).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 12 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:109993 (9 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| el836 | Allele with one deletion | Exon 2 | Frameshift, Premature Stop | CRISPR | |
| sa1145 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa21007 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa44671 | Allele with one point mutation | Unknown | Unknown | ENU |
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Human Disease
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Homedomain-like superfamily | Homeobox, conserved site | Homeodomain | KN homeodomain |
|---|---|---|---|---|---|
|
UniProtKB:A0A8M9Q1J3
|
496 | ||||
|
UniProtKB:A0A8M3AUD2
|
493 | ||||
|
UniProtKB:A0A8M2BG97
|
505 | ||||
|
UniProtKB:Q503Z8
|
477 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-271C18 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-224N5 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:109993 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:193044 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001023575 (1) | 2296 nt | ||
| Genomic | GenBank:BX663609 (1) | 248960 nt | ||
| Polypeptide | UniProtKB:A0A8M2BG97 (1) | 505 aa |
- Farmer, D.T., Patel, P., Choi, R., Liu, C.Y., Crump, J.G. (2021) Comprehensive series of Irx cluster mutants reveals diverse roles in facial cartilage development. Development (Cambridge, England). 148(16)
- Kohl, S., Llavona, P., Sauer, A., Reuter, P., Weisschuh, N., Kempf, M., Dehmelt, F.A., Arrenberg, A.B., Sliesoraityte, I., Zrenner, E., van Schooneveld, M.J., Rudolph, G., Kühlewein, L., Wissinger, B. (2021) A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect. Human molecular genetics. 30(13):1218-1229
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Orosz, F. (2015) On the tubulin polymerization promoting proteins of zebrafish. Biochemical and Biophysical Research Communications. 457(3):267-72
- Linder, B., Dill, H., Hirmer, A., Brocher, J., Lee, G.P., Mathavan, S., Bolz, H.J., Winkler, C., Laggerbauer, B., and Fischer, U. (2011) Systemic splicing factor deficiency causes tissue-specific defects: A zebrafish model for Retinitis pigmentosa. Human molecular genetics. 20(2):368-377
- Tena, J.J., Alonso, M.E., de la Calle-Mustienes, E., Splinter, E., de Laat, W., Manzanares, M., and Gómez-Skarmeta, J.L. (2011) An evolutionarily conserved three-dimensional structure in the vertebrate Irx clusters facilitates enhancer sharing and coregulation. Nature communications. 2:310
- Choy, S.W., Cheng, C.W., Lee, S.T., Li, V.W., Hui, M.N., Hui, C.C., Liu, D., and Cheng, S.H. (2010) A cascade of irx1a and irx2a controls shh expression during retinogenesis. Developmental Dynamics : an official publication of the American Association of Anatomists. 239(12):3204-3214
- McDonald, L.A., Gerrelli, D., Fok, Y., Hurst, L.D., and Tickle, C. (2010) Comparison of Iroquois gene expression in limbs/fins of vertebrate embryos. Journal of anatomy. 216(6):683-691
- de la Calle-Mustienes, E., Feijoo, C.G., Manzanares, M., Tena, J.J., Rodriguez-Seguel, E., Leticia, A., Allende, M.L., and Gomez-Skarmeta, J.L. (2005) A functional survey of the enhancer activity of conserved non-coding sequences from vertebrate Iroquois cluster gene deserts. Genome research. 15(8):1061-1072
- Lecaudey, V., Anselme, I., Dildrop, R., Ruther, U., and Schneider-Maunoury, S. (2005) Expression of the zebrafish Iroquois genes during early nervous system formation and patterning. The Journal of comparative neurology. 492(3):289-302
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