Gene
arhgef2a
- ID
- ZDB-GENE-030722-5
- Name
- Rho guanine nucleotide exchange factor (GEF) 2a
- Symbol
- arhgef2a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to enable microtubule binding activity. Predicted to be involved in several processes, including actin filament organization; positive regulation of neuron differentiation; and regulation of Rho protein signal transduction. Predicted to act upstream of or within several processes, including cell division; innate immune response; and nervous system development. Predicted to be located in several cellular components, including Golgi apparatus; bicellular tight junction; and spindle. Predicted to be active in cytoskeleton and ruffle membrane. Is expressed in several structures, including blood vessel; hindbrain neural plate; immature eye; mesoderm; and nervous system. Human ortholog(s) of this gene implicated in immunodeficiency 62 and neurodevelopmental disorder with midbrain and hindbrain malformations. Orthologous to several human genes including ARHGEF2 (Rho/Rac guanine nucleotide exchange factor 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from Thisse et al., 2001
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb473 (41 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la013367Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa16009 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa23466 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa23467 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa43243 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa44907 | Allele with one point mutation | Unknown | Unknown | ENU |
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No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| neurodevelopmental disorder with midbrain and hindbrain malformations | Alliance | ?Neurodevelopmental disorder with midbrain and hindbrain malformations | 617523 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001849 | Pleckstrin homology domain |
| Domain | IPR002219 | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain |
| Domain | IPR037806 | ARHGEF2, PH domain |
| Domain | IPR041020 | ARHGEF1-like, PH domain |
| Family | IPR051632 | Rho guanine nucleotide exchange factor |
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Domain Details Per Protein
| Protein | Additional Resources | Length | ARHGEF1-like, PH domain | ARHGEF2, PH domain | C1-like domain superfamily | Dbl homology (DH) domain superfamily | PH-like domain superfamily | Pleckstrin homology domain | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain | Rho guanine nucleotide exchange factor |
|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M3B3E5 | InterPro | 874 | ||||||||
| UniProtKB:A0A8M9PN51 | InterPro | 1139 | ||||||||
| UniProtKB:A0A8M9PRC8 | InterPro | 1149 | ||||||||
| UniProtKB:A2RUX1 | InterPro | 935 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
arhgef1a-201
(1)
|
Ensembl | 4,238 nt | ||
| mRNA |
si:dkey-240h12.3-201
(1)
|
Ensembl | 961 nt |
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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 | DKEY-240H12 | ZFIN Curated Data | |
| Encodes | EST | cb473 | Thisse et al., 2001 | |
| Encodes | cDNA | MGC:158261 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001423384 (1) | 4998 nt | ||
| Genomic | GenBank:CT573147 (1) | 168801 nt | ||
| Polypeptide | UniProtKB:A0A8M9PRC8 (1) | 1149 aa |
- Zebrafish Nomenclature Committee (2024) Nomenclature Data Curation (2024). Nomenclature Committee Submission.
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- 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
- 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
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
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