Gene
grhl2b
- ID
- ZDB-GENE-060503-719
- Name
- grainyhead-like transcription factor 2b
- Symbol
- grhl2b Nomenclature History
- Previous Names
-
- grhl2
- si:dkey-21k18.2
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Enables transcription cis-regulatory region binding activity. Acts upstream of or within apoptotic process involved in morphogenesis; inner ear development; and midbrain-hindbrain boundary morphogenesis. Predicted to be active in nucleus. Is expressed in several structures, including anterior axial hypoblast; midbrain hindbrain boundary neural rod; neurogenic placode; optic vesicle; and posterior lateral line system. Used to study autosomal dominant nonsyndromic deafness. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 28 and posterior polymorphous corneal dystrophy 4. Orthologous to human GRHL2 (grainyhead like transcription factor 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-grhl2b | (3) | |
| CRISPR2-grhl2b | Varshney et al., 2015 | |
| CRISPR3-grhl2b | (2) | |
| MO1-grhl2b | N/A | Han et al., 2011 |
| MO2-grhl2b | N/A | (2) |
| MO3-grhl2b | N/A | (2) |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant nonsyndromic deafness 28 | Alliance | Deafness, autosomal dominant 28 | 608641 |
| posterior polymorphous corneal dystrophy 4 | Alliance | Corneal dystrophy, posterior polymorphous, 4 | 618031 |
| Ectodermal dysplasia/short stature syndrome | 616029 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| autosomal dominant nonsyndromic deafness | grhl2btsu086Gt/tsu086Gt (AB) | standard conditions | Han et al., 2011 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | CP2 transcription factor | Transcription factor CP2-like |
|---|---|---|---|
|
UniProtKB:F7VJQ5
|
601 | ||
|
UniProtKB:A0A2R8QAV0
|
554 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
grhl2b-201
(1)
|
Ensembl | 3,699 nt | ||
| mRNA |
grhl2b-202
(1)
|
Ensembl | 1,786 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(hsp70l:grhl2b-EGFP) |
|
| 1 | (3) |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-21K18 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001083072 (1) | 1786 nt | ||
| Genomic | GenBank:BX294657 (1) | 124224 nt | ||
| Polypeptide | UniProtKB:F7VJQ5 (1) | 601 aa |
- Petree, C., Varshney, G.K. (2020) MultiFRAGing: Rapid and Simultaneous Genotyping of Multiple Alleles in a Single Reaction. Scientific Reports. 10:3172
- Miles, L.B., Darido, C., Kaslin, J., Heath, J.K., Jane, S.M., Dworkin, S. (2017) Mis-expression of grainyhead-like transcription factors in zebrafish leads to defects in enveloping layer (EVL) integrity, cellular morphogenesis and axial extension. Scientific Reports. 7:17607
- Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37
- 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
- Liu, F., Yang, F., Wen, D., Xia, W., Hao, L., Hu, J., Zong, J., Shen, X., Ma, J., Jiang, N., Sun, S., Zhang, J., Wang, H., Wang, X., Ma, Z., Ma, D. (2015) Grhl1 deficiency affects inner ear development in zebrafish. The International journal of developmental biology. 59(10-11-12):417-423
- Varshney, G.K., Pei, W., LaFave, M.C., Idol, J., Xu, L., Gallardo, V., Carrington, B., Bishop, K., Jones, M., Li, M., Harper, U., Huang, S.C., Prakash, A., Chen, W., Sood, R., Ledin, J., Burgess, S.M. (2015) High-throughput gene targeting and phenotyping in zebrafish using CRISPR/Cas9. Genome research. 25(7):1030-42
- Armant, O., März, M., Schmidt, R., Ferg, M., Diotel, N., Ertzer, R., Bryne, J.C., Yang, L., Baader, I., Reischl, M., Legradi, J., Mikut, R., Stemple, D., Ijcken, W.V., van der Sloot, A., Lenhard, B., Strähle, U., and Rastegar, S. (2013) Genome-wide, whole mount in situ analysis of transcriptional regulators in zebrafish embryos. Developmental Biology. 380(2):351-62
- Dworkin, S., Darido, C., Georgy, S.R., Wilanowski, T., Srivastava, S., Ellett, F., Pase, L., Han, Y., Meng, A., Heath, J.K., Lieschke, G.J., and Jane, S.M. (2012) Midbrain-hindbrain boundary patterning and morphogenesis are regulated by diverse grainy head-like 2-dependent pathways. Development (Cambridge, England). 139(3):525-536
- Zheng, X., Yang, S., Han, Y., Zhao, X., Zhao, L., Tian, T., Tong, J., Xu, P., Xiong, C., and Meng, A. (2012) Loss of zygotic NUP107 protein causes missing of pharyngeal skeleton and other tissue defects with impaired nuclear pore function in zebrafish embryos. The Journal of biological chemistry. 287(45):38254-38264
- Han, Y., Mu, Y., Li, X., Xu, P., Tong, J., Liu, Z., Ma, T., Zeng, G., Yang, S., Du, J., and Meng, A. (2011) Grhl2 deficiency impairs otic development and hearing ability in a zebrafish model of the progressive dominant hearing loss DFNA28. Human molecular genetics. 20(16):3213-26
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