Gene
ccdc88c
- ID
- ZDB-GENE-100419-3
- Name
- coiled-coil domain containing 88C
- Symbol
- ccdc88c Nomenclature History
- Previous Names
-
- zDAPLE (1)
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Enables guanyl-nucleotide exchange factor activity. Involved in neural tube formation and small GTPase-mediated signal transduction. Predicted to be located in cell junction. Predicted to be active in centrosome and cytoplasm. Is expressed in anterior neural tube; neural rod; and neural tube. Human ortholog(s) of this gene implicated in hydrocephalus and spinocerebellar ataxia type 40. Orthologous to human CCDC88C (coiled-coil domain containing 88C).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Marivin et al., 2019
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Marivin et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| bu8 | Allele with one deletion | Exon 8 | Unknown | CRISPR | |
| bu9 | Allele with one deletion | Exon 15 | Unknown | CRISPR | |
| sa2919 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa5633 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa23144 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa45617 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-ccdc88c | (2) | |
| CRISPR2-ccdc88c | (2) | |
| CRISPR3-ccdc88c | (2) | |
| CRISPR4-ccdc88c | (2) |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hydrocephalus | Alliance | Hydrocephalus, congenital, 1 | 236600 |
| spinocerebellar ataxia type 40 | Alliance | ?Spinocerebellar ataxia 40 | 616053 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Calponin homology domain | CH domain superfamily | HOOK, N-terminal |
|---|---|---|---|---|
|
UniProtKB:A0A2R8QCI3
|
2023 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
ccdc88c-201
(1)
|
Ensembl | 7,789 nt | ||
| mRNA |
ccdc88c-202
(1)
|
Ensembl | 9,374 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 | CH211-153J15 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001423870 (1) | 7765 nt | ||
| Genomic | GenBank:CR933821 (1) | 193962 nt | ||
| Polypeptide | UniProtKB:A0A2R8QCI3 (1) | 2023 aa |
- Comparative Orthology
- Alliance
- Ear, J., Abd El-Hafeez, A.A., Roy, S., Ngo, T., Rajapakse, N., Choi, J., Khandelwal, S., Ghassemian, M., McCaffrey, L., Kufareva, I., Sahoo, D., Ghosh, P. (2021) A long isoform of GIV/Girdin contains a PDZ-binding module that regulates localization and G-protein binding. The Journal of biological chemistry. 296:100493
- Holler, K., Neuschulz, A., Drewe-Boß, P., Mintcheva, J., Spanjaard, B., Arsiè, R., Ohler, U., Landthaler, M., Junker, J.P. (2021) Spatio-temporal mRNA tracking in the early zebrafish embryo. Nature communications. 12:3358
- Marivin, A., Morozova, V., Walawalkar, I., Leyme, A., Kretov, D.A., Cifuentes, D., Dominguez, I., Garcia-Marcos, M. (2019) GPCR-independent activation of G proteins promotes apical cell constriction in vivo. The Journal of cell biology. 218:1743-1763
- 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
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