Gene
ccm2
- ID
- ZDB-GENE-040712-6
- Name
- CCM2 scaffold protein
- Symbol
- ccm2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Acts upstream of or within several processes, including circulatory system development; heart contraction; and positive regulation of vasculature development. Predicted to be located in cytoplasm. Is expressed in several structures, including cardinal system; heart; intermediate cell mass of mesoderm; liver; and ventricular zone. Used to study cerebral cavernous malformation. Human ortholog(s) of this gene implicated in cerebral cavernous malformation 2. Orthologous to human CCM2 (CCM2 scaffold protein).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:110233 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 44 figures from 23 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| hi296aTg | Transgenic insertion | Intron 1 | Unknown | DNA | |
| la028219Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| m201 | Allele with one point mutation | Exon 4 | Premature Stop | ENU | |
| s259 | unknown | Unknown | Unknown | ENU | |
| sa37000 | Allele with one point mutation | Unknown | Splice Site | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-ccm2 | (3) | |
| CRISPR2-ccm2 | (3) | |
| CRISPR3-ccm2 | (3) | |
| CRISPR4-ccm2 | (3) | |
| MO1-ccm2 | N/A | (8) |
| MO2-ccm2 | N/A | Malone et al., 2007 |
| MO3-ccm2 | N/A | Malone et al., 2007 |
| MO4-ccm2 | N/A | Mariappan et al., 2009 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| cerebral cavernous malformation 2 | Alliance | Cerebral cavernous malformations-2 | 603284 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| cerebral cavernous malformation | sd2Tg; y1Tg + CRISPR1-ccm2 + CRISPR2-ccm2 + CRISPR3-ccm2 + CRISPR4-ccm2 | standard conditions | Li et al., 2021 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Cerebral cavernous malformations 2 | Cerebral cavernous malformations 2, harmonin-homology domain | PH-like domain superfamily | PTB/PI domain |
|---|---|---|---|---|---|---|
| UniProtKB:Q6DRP4 | InterPro | 455 | ||||
| UniProtKB:A0AB32T6M1 | InterPro | 449 |
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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:ccm2-IRES-EGFP) |
| 1 | Donat et al., 2018 |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-261F7 | ZFIN Curated Data | |
| Contained in | BAC | DKEYP-86F6 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:110233 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:191358 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001002315 (1) | 2281 nt | ||
| Genomic | GenBank:BX511009 (1) | 122167 nt | ||
| Polypeptide | UniProtKB:Q6DRP4 (1) | 455 aa |
- Li, W., McCurdy, S., Lopez-Ramirez, M.A., Lee, H.S., Ginsberg, M.H. (2025) Genetic inactivation of the β1 adrenergic receptor prevents cerebral cavernous malformations in zebrafish. eLIFE. 13:
- Pham, V.C., Rödel, C.J., Valentino, M., Malinverno, M., Paolini, A., Münch, J., Pasquier, C., Onyeogaziri, F.C., Lazovic, B., Girard, R., Koskimäki, J., Hußmann, M., Keith, B., Jachimowicz, D., Kohl, F., Hagelkruys, A., Penninger, J.M., Schulte-Merker, S., Awad, I.A., Hicks, R., Magnusson, P.U., Faurobert, E., Pagani, M., Abdelilah-Seyfried, S. (2024) Epigenetic regulation by polycomb repressive complex 1 promotes cerebral cavernous malformations. EMBO Molecular Medicine. 16(11):2827-2855
- Grdseloff, N., Boulday, G., Rödel, C.J., Otten, C., Vannier, D.R., Cardoso, C., Faurobert, E., Dogra, D., Tournier-Lasserve, E., Abdelilah-Seyfried, S. (2023) Impaired retinoic acid signaling in cerebral cavernous malformations. Scientific Reports. 13:55725572
- Lazzaroni, F., Meessen, J.M.T.A., Sun, Y., Lanfranconi, S., Scola, E., D'Alessandris, Q.G., Tassi, L., Carriero, M.R., Castori, M., Marino, S., Blanda, A., Nicolis, E.B., Novelli, D., Calabrese, R., Agnelli, N.M., Bottazzi, B., Leone, R., Mazzola, S., Besana, S., Catozzi, C., Nezi, L., Lampugnani, M.G., Malinverno, M., Grdseloff, N., Rödel, C.J., Rezai Jahromi, B., Bolli, N., Passamonti, F., Magnusson, P.U., Abdelilah-Seyfried, S., Dejana, E., Latini, R. (2023) Circulating biomarkers in familial cerebral cavernous malformation. EBioMedicine. 99:104914104914
- Yang, X., Wu, S.T., Gao, R., Wang, R., Wang, Y., Dong, Z., Wang, L., Qi, C., Wang, X., Schmitz, M.L., Liu, R., Han, Z., Wang, L., Zheng, X. (2023) Release of STK24/25 suppression on MEKK3 signaling in endothelial cells confers Cerebral cavernous malformation. JCI insight. 8(5):
- Hu, M., Liu, P., Lu, S., Wang, Z., Lyu, Z., Liu, H., Sun, Y., Liu, F., Tian, J. (2021) Myocardial protective effect and transcriptome profiling of Naoxintong on cardiomyopathy in zebrafish. Chinese Medicine. 16:119
- Li, W., Tran, V., Shaked, I., Xue, B., Moore, T., Lightle, R., Kleinfeld, D., Awad, I.A., Ginsberg, M.H. (2021) Abortive intussusceptive angiogenesis causes multi-cavernous vascular malformations. eLIFE. 10:
- Li, W., Shenkar, R., Detter, M.R., Moore, T., Benavides, C.R., Lightle, R., Girard, R., Hobson, N., Cao, Y., Li, Y., Griffin, E., Gallione, C., Zabramski, J.M., Ginsberg, M.H., Marchuk, D.A., Awad, I.A. (2020) Propranolol inhibits cavernous vascular malformations by β1 adrenergic receptor antagonism. The Journal of Clinical Investigation. 131(3)
- Choi, J.P., Wang, R., Yang, X., Wang, X., Wang, L., Ting, K.K., Foley, M., Cogger, V., Yang, Z., Liu, F., Han, Z., Liu, R., Baell, J., Zheng, X. (2018) Ponatinib (AP24534) inhibits MEKK3-KLF signaling and prevents formation and progression of cerebral cavernous malformations. Science advances. 4:eaau0731
- Donat, S., Lourenço, M., Paolini, A., Otten, C., Renz, M., Abdelilah-Seyfried, S. (2018) Heg1 and Ccm1/2 proteins control endocardial mechanosensitivity during zebrafish valvulogenesis. eLIFE. 7:e28939
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