Gene
cd2ap
- ID
- ZDB-GENE-030131-8078
- Name
- CD2-associated protein
- Symbol
- cd2ap Nomenclature History
- Previous Names
-
- cd2apl
- fj51c01
- im:7153970
- si:ch211-207n9.1
- wu:fj51c01
- zgc:103705
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Acts upstream of or within glomerular filtration and pronephric glomerulus development. Predicted to be active in several cellular components, including cell leading edge; plasma membrane; and vesicle. Human ortholog(s) of this gene implicated in focal segmental glomerulosclerosis and focal segmental glomerulosclerosis 3. Orthologous to human CD2AP (CD2 associated protein).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:103705 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la021602Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa10969 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa23766 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa23767 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-cd2ap | Kroll et al., 2025 | |
| CRISPR2-cd2ap | Kroll et al., 2025 | |
| CRISPR3-cd2ap | Kroll et al., 2025 | |
| MO1-cd2ap | N/A | (5) |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| focal segmental glomerulosclerosis 3 | Alliance | Glomerulosclerosis, focal segmental, 3 | 607832 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | CD2-associated protein, first SH3 domain | CD2-associated protein, second SH3 domain | CD2-associated protein, third SH3 domain | Endophilin/SH3RF | SH3 domain | SH3-like domain superfamily |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M3AKU9 | InterPro | 655 | ||||||
| UniProtKB:A0A8M2B7J4 | InterPro | 607 | ||||||
| UniProtKB:F1R1N9 | InterPro | 657 | ||||||
| UniProtKB:Q5PR31 | InterPro | 279 |
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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 | CH211-207N9 | ZFIN Curated Data | |
| Encodes | EST | fj51c01 | ||
| Encodes | EST | IMAGE:7153970 | Thisse et al., 2004 | |
| Encodes | cDNA | MGC:103705 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:191806 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001008583 (1) | 2757 nt | ||
| Genomic | GenBank:BX511269 (1) | 161408 nt | ||
| Polypeptide | UniProtKB:F1R1N9 (1) | 657 aa |
- Kroll, F., Donnelly, J., Özcan, G.G., Mackay, E., Rihel, J. (2025) Behavioural pharmacology predicts disrupted signalling pathways and candidate therapeutics from zebrafish mutants of Alzheimer's disease risk genes. eLIFE. 13:
- Tossidou, I., Teng, B., Worthmann, K., Müller-Deile, J., Jobst-Schwan, T., Kardinal, C., Schroder, P., Bolanos-Palmieri, P., Haller, H., Willerding, J., Drost, D.M., de Jonge, L., Reubold, T., Eschenburg, S., Johnson, R.I., Schiffer, M. (2019) Tyrosine Phosphorylation of CD2AP Affects Stability of the Slit Diaphragm Complex. Journal of the American Society of Nephrology : JASN. 30(7):1220-1237
- Ito, Y., Katayama, K., Nishibori, Y., Akimoto, Y., Kudo, A., Kurayama, R., Hada, I., Takahashi, S., Kimura, T., Fukutomi, T., Katada, T., Suehiro, J., Beltcheva, O., Tryggvason, K., Yan, K. (2017) Wolf-Hirschhorn syndrome candidate 1-like 1 epigenetically regulates nephrin gene expression. American journal of physiology. Renal physiology. 312(6):F1184-F1199
- Kuusela, S., Wang, H., Wasik, A.A., Suleiman, H., Lehtonen, S. (2016) Tankyrase inhibition aggravates kidney injury in the absence of CD2AP. Cell Death & Disease. 7:e2302
- 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
- Schiffer, M., Teng, B., Gu, C., Shchedrina, V.A., Kasaikina, M., Pham, V.A., Hanke, N., Rong, S., Gueler, F., Schroder, P., Tossidou, I., Park, J.K., Staggs, L., Haller, H., Erschow, S., Hilfiker-Kleiner, D., Wei, C., Chen, C., Tardi, N., Hakroush, S., Selig, M.K., Vasilyev, A., Merscher, S., Reiser, J., Sever, S. (2015) Pharmacological targeting of actin-dependent dynamin oligomerization ameliorates chronic kidney disease in diverse animal models. Nature medicine. 21:601-9
- Yeo, N.C., O'Meara, C.C., Bonomo, J.A., Veth, K.N., Tomar, R., Flister, M.J., Drummond, I.A., Bowden, D.W., Freedman, B.I., Lazar, J., Link, B.A., Jacob, H.J. (2015) Shroom3 contributes to the maintenance of the glomerular filtration barrier integrity. Genome research. 25(1):57-65
- 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
- Hentschel, D.M., Mengel, M., Boehme, L., Liebsch, F., Albertin, C., Bonventre, J.V., Haller, H., and Schiffer, M. (2007) Rapid screening of glomerular slit diaphragm integrity in larval zebrafish. American journal of physiology. Renal physiology. 293(5):F1746-F1750
- 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
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