Gene
ehd2a
- ID
- ZDB-GENE-060531-86
- Name
- EH-domain containing 2a
- Symbol
- ehd2a Nomenclature History
- Previous Names
-
- si:dkey-197m14.2 (1)
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable GTP binding activity and calcium ion binding activity. Predicted to be involved in several processes, including cilium assembly; endocytic recycling; and protein localization to plasma membrane. Predicted to be located in endosome and membrane. Predicted to be active in cytoplasmic vesicle; perinuclear region of cytoplasm; and plasma membrane. Orthologous to human EHD2 (EH domain containing 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Campbell et al., 2021
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | Domain of unknown function DUF5600 | Dynamin, N-terminal | Dynamin-type guanine nucleotide-binding (G) domain | EF-Hand 1, calcium-binding site | EF-hand domain | EF-hand domain pair | EH domain | EH domain-containing protein, N-terminal | P-loop containing nucleoside triphosphate hydrolase |
---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:E9QGV7 | InterPro | 546 |
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- Genome Browsers
Interactions and Pathways
No data available
Plasmids
Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | DKEY-197M14 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:XM_017356372 (1) | |||
Genomic | GenBank:BX511157 (1) | 159528 nt | ||
Polypeptide | UniProtKB:E9QGV7 (1) | 546 aa |
- Zebrafish Nomenclature Committee (2024) Nomenclature Data Curation (2024). Nomenclature Committee Submission.
- Issler, N., Afonso, S., Weissman, I., Jordan, K., Cebrian-Serrano, A., Meindl, K., Dahlke, E., Tziridis, K., Yan, G., Robles-López, J.M., Tabernero, L., Patel, V., Kesselheim, A., Klootwijk, E.D., Stanescu, H.C., Dumitriu, S., Iancu, D., Tekman, M., Mozere, M., Jaureguiberry, G., Outtandy, P., Russell, C., Forst, A.L., Sterner, C., Heinl, E.S., Othmen, H., Tegtmeier, I., Reichold, M., Schiessl, I.M., Limm, K., Oefner, P., Witzgall, R., Fu, L., Theilig, F., Schilling, A., Shuster Biton, E., Kalfon, L., Fedida, A., Arnon-Sheleg, E., Ben Izhak, O., Magen, D., Anikster, Y., Schulze, H., Ziegler, C., Lowe, M., Davies, B., Böckenhauer, D., Kleta, R., Falik Zaccai, T.C., Warth, R. (2022) A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness. Journal of the American Society of Nephrology : JASN. 33(4):732-745
- Campbell, N.R., Rao, A., Hunter, M.V., Sznurkowska, M.K., Briker, L., Zhang, M., Baron, M., Heilmann, S., Deforet, M., Kenny, C., Ferretti, L.P., Huang, T.H., Perlee, S., Garg, M., Nsengimana, J., Saini, M., Montal, E., Tagore, M., Newton-Bishop, J., Middleton, M.R., Corrie, P., Adams, D.J., Rabbie, R., Aceto, N., Levesque, M.P., Cornell, R.A., Yanai, I., Xavier, J.B., White, R.M. (2021) Cooperation between melanoma cell states promotes metastasis through heterotypic cluster formation. Developmental Cell. 56(20):2808-2825.e10
- Lu, Q., Insinna, C., Ott, C., Stauffer, J., Pintado, P.A., Rahajeng, J., Baxa, U., Walia, V., Cuenca, A., Hwang, Y.S., Daar, I.O., Lopes, S., Lippincott-Schwartz, J., Jackson, P.K., Caplan, S., Westlake, C.J. (2015) Early steps in primary cilium assembly require EHD1/EHD3-dependent ciliary vesicle formation. Nature cell biology. 17:228-40
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