Gene
arhgef18b
- ID
- ZDB-GENE-070705-462
- Name
- rho/rac guanine nucleotide exchange factor (GEF) 18b
- Symbol
- arhgef18b Nomenclature History
- Previous Names
-
- si:dkey-38o13.1
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Predicted to enable guanyl-nucleotide exchange factor activity and metal ion binding activity. Acts upstream of or within cilium movement. Located in cytoplasm. Human ortholog(s) of this gene implicated in retinitis pigmentosa 78. Orthologous to human ARHGEF18 (Rho/Rac guanine nucleotide exchange factor 18).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Choksi et al., 2014
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Choksi et al., 2014
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la014141Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la022131Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa10836 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa13725 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa24089 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa24090 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa37442 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa37443 | Allele with one point mutation | Unknown | Splice Site | ENU |
1 - 8 of 8
Show
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| retinitis pigmentosa 78 | Alliance | Retinitis pigmentosa 78 | 617433 |
1 - 1 of 1
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | ARHGEF18, PH domain | ARHGEF1-like, PH domain | C1-like domain superfamily | Dbl homology (DH) domain superfamily | Dbl homology domain | PH-like domain superfamily | Pleckstrin homology domain | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain | Rho guanine nucleotide exchange factor 18 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8N7TD86 | InterPro | 1059 | |||||||||
| UniProtKB:F1QCK8 | InterPro | 1012 | |||||||||
| UniProtKB:A0AB32TGC8 | InterPro | 1541 | |||||||||
| UniProtKB:A0AB32TGK2 | InterPro | 1526 |
1 - 4 of 4
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
arhgef18b-201
(1)
|
Ensembl | 3,224 nt | ||
| mRNA |
arhgef18b-202
(1)
|
Ensembl | 3,618 nt | ||
| mRNA |
arhgef18b-203
(1)
|
Ensembl | 3,302 nt |
1 - 3 of 3
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-38O13 | ZFIN Curated Data |
1 - 1 of 1
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_068216436 (1) | 8297 nt | ||
| Genomic | GenBank:BX908744 (1) | 122362 nt | ||
| Polypeptide | UniProtKB:A0AB32TGC8 (1) | 1541 aa |
- Arno, G., Carss, K.J., Hull, S., Zihni, C., Robson, A.G., Fiorentino, A., Hardcastle, A.J., Holder, G.E., Cheetham, M.E., Plagnol, V., Moore, A.T., Raymond, F.L., Matter, K., Balda, M.S., Webster, A.R. (2017) Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. American journal of human genetics. 100(2):334-342
- 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
- Choksi, S.P., Babu, D., Lau, D., Yu, X., Roy, S. (2014) Systematic discovery of novel ciliary genes through functional genomics in the zebrafish. Development (Cambridge, England). 141:3410-9
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- Wang, D., Jao, L.E., Zheng, N., Dolan, K., Ivey, J., Zonies, S., Wu, X., Wu, K., Yang, H., Meng, Q., Zhu, Z., Zhang, B., Lin, S., and Burgess, S.M. (2007) Efficient genome-wide mutagenesis of zebrafish genes by retroviral insertions. Proceedings of the National Academy of Sciences of the United States of America. 104(30):12428-12433
1 - 6 of 6
Show