CC2D2A is a coiled-coil and C2-domain-containing component of the MKS ciliary transition-zone machinery. It organizes the ciliary base and helps recruit or retain proteins needed for axoneme formation and the ciliary membrane barrier. Its role in ciliogenesis supports Hedgehog signaling and normal embryonic patterning; pathogenic variants cause ciliopathies including Joubert and Meckel syndromes.
| GO Term | Evidence | Action | Reason |
|---|---|---|---|
| GO:0005737 cytoplasm | IEA GO_REF:0000044 | KEEP AS NON CORE | Summary: CC2D2A has a cytoplasmic pool associated with ciliary-base assembly. Reason: The generic cytoplasm/cytosol assignments are consistent with recruitment to the mother centriole; the ciliary transition zone and MKS complex are the more informative functional locations. Supporting Evidence: PMID:24947469 CC2D2A is needed for the assembly of SDA at mother centriole, for stable MT anchoring and docking of transport vesicles, and for further elaboration of the transition zone. |
| GO:0005829 cytosol | TAS Reactome:R-HSA-5617816 | KEEP AS NON CORE | Summary: CC2D2A has a cytoplasmic pool associated with ciliary-base assembly. Reason: The generic cytoplasm/cytosol assignments are consistent with recruitment to the mother centriole; the ciliary transition zone and MKS complex are the more informative functional locations. Supporting Evidence: PMID:24947469 CC2D2A is needed for the assembly of SDA at mother centriole, for stable MT anchoring and docking of transport vesicles, and for further elaboration of the transition zone. |
| GO:0005829 cytosol | TAS Reactome:R-HSA-5626681 | KEEP AS NON CORE | Summary: CC2D2A has a cytoplasmic pool associated with ciliary-base assembly. Reason: The generic cytoplasm/cytosol assignments are consistent with recruitment to the mother centriole; the ciliary transition zone and MKS complex are the more informative functional locations. Supporting Evidence: PMID:24947469 CC2D2A is needed for the assembly of SDA at mother centriole, for stable MT anchoring and docking of transport vesicles, and for further elaboration of the transition zone. |
| GO:0005829 cytosol | TAS Reactome:R-HSA-5638009 | KEEP AS NON CORE | Summary: CC2D2A has a cytoplasmic pool associated with ciliary-base assembly. Reason: The generic cytoplasm/cytosol assignments are consistent with recruitment to the mother centriole; the ciliary transition zone and MKS complex are the more informative functional locations. Supporting Evidence: PMID:24947469 CC2D2A is needed for the assembly of SDA at mother centriole, for stable MT anchoring and docking of transport vesicles, and for further elaboration of the transition zone. |
| GO:0007224 smoothened signaling pathway | IEA GO_REF:0000107 | ACCEPT | Summary: CC2D2A supports cilia-dependent Smoothened/Hedgehog signaling. Reason: Cc2d2a-deficient mouse embryos show disrupted ventral neural patterning and Shh responses in association with defective cilia. This is participation through ciliary organization, not ligand or receptor activity. Supporting Evidence: PMID:24947469 the neural tube patterning defect of Cc2d2a-/- embryos mostly affects ventral cell fates, consistent with a perturbation of Shh signaling PMID:24947469 The mouse Cc2d2a transgene could rescue the axoneme assembly defect in Cc2d2a-/- MEFs |
| GO:0007224 smoothened signaling pathway | ISS GO_REF:0000024 | ACCEPT | Summary: CC2D2A supports cilia-dependent Smoothened/Hedgehog signaling. Reason: Cc2d2a-deficient mouse embryos show disrupted ventral neural patterning and Shh responses in association with defective cilia. This is participation through ciliary organization, not ligand or receptor activity. Supporting Evidence: PMID:24947469 the neural tube patterning defect of Cc2d2a-/- embryos mostly affects ventral cell fates, consistent with a perturbation of Shh signaling PMID:24947469 The mouse Cc2d2a transgene could rescue the axoneme assembly defect in Cc2d2a-/- MEFs |
| GO:0035869 ciliary transition zone | IBA GO_REF:0000033 | ACCEPT | Summary: CC2D2A is part of the ciliary transition-zone MKS machinery. Reason: The transition-zone complex study and Cc2d2a-loss analysis support complex membership and ciliary-base localization. Defective appendage assembly and transition-zone elaboration provide independent mechanistic support. Supporting Evidence: PMID:24947469 CC2D2A is needed for the assembly of SDA at mother centriole, for stable MT anchoring and docking of transport vesicles, and for further elaboration of the transition zone. |
| GO:0035869 ciliary transition zone | IEA GO_REF:0000107 | ACCEPT | Summary: CC2D2A is part of the ciliary transition-zone MKS machinery. Reason: The transition-zone complex study and Cc2d2a-loss analysis support complex membership and ciliary-base localization. Defective appendage assembly and transition-zone elaboration provide independent mechanistic support. Supporting Evidence: PMID:24947469 CC2D2A is needed for the assembly of SDA at mother centriole, for stable MT anchoring and docking of transport vesicles, and for further elaboration of the transition zone. |
| GO:0035869 ciliary transition zone | ISS GO_REF:0000024 | ACCEPT | Summary: CC2D2A is part of the ciliary transition-zone MKS machinery. Reason: The transition-zone complex study and Cc2d2a-loss analysis support complex membership and ciliary-base localization. Defective appendage assembly and transition-zone elaboration provide independent mechanistic support. Supporting Evidence: PMID:24947469 CC2D2A is needed for the assembly of SDA at mother centriole, for stable MT anchoring and docking of transport vesicles, and for further elaboration of the transition zone. |
| GO:0035869 ciliary transition zone | NAS PMID:22179047 A ciliopathy complex at the transition zone protects the cil... | ACCEPT | Summary: CC2D2A is part of the ciliary transition-zone MKS machinery. Reason: The transition-zone complex study and Cc2d2a-loss analysis support complex membership and ciliary-base localization. Defective appendage assembly and transition-zone elaboration provide independent mechanistic support. Supporting Evidence: PMID:24947469 CC2D2A is needed for the assembly of SDA at mother centriole, for stable MT anchoring and docking of transport vesicles, and for further elaboration of the transition zone. |
| GO:0036038 MKS complex | IEA GO_REF:0000107 | ACCEPT | Summary: CC2D2A is part of the ciliary transition-zone MKS machinery. Reason: The transition-zone complex study and Cc2d2a-loss analysis support complex membership and ciliary-base localization. Defective appendage assembly and transition-zone elaboration provide independent mechanistic support. Supporting Evidence: PMID:24947469 CC2D2A is needed for the assembly of SDA at mother centriole, for stable MT anchoring and docking of transport vesicles, and for further elaboration of the transition zone. |
| GO:0036038 MKS complex | ISS GO_REF:0000024 | ACCEPT | Summary: CC2D2A is part of the ciliary transition-zone MKS machinery. Reason: The transition-zone complex study and Cc2d2a-loss analysis support complex membership and ciliary-base localization. Defective appendage assembly and transition-zone elaboration provide independent mechanistic support. Supporting Evidence: PMID:24947469 CC2D2A is needed for the assembly of SDA at mother centriole, for stable MT anchoring and docking of transport vesicles, and for further elaboration of the transition zone. |
| GO:0036038 MKS complex | NAS PMID:22179047 A ciliopathy complex at the transition zone protects the cil... | ACCEPT | Summary: CC2D2A is part of the ciliary transition-zone MKS machinery. Reason: The transition-zone complex study and Cc2d2a-loss analysis support complex membership and ciliary-base localization. Defective appendage assembly and transition-zone elaboration provide independent mechanistic support. Supporting Evidence: PMID:24947469 CC2D2A is needed for the assembly of SDA at mother centriole, for stable MT anchoring and docking of transport vesicles, and for further elaboration of the transition zone. |
| GO:0060271 cilium assembly | IEA GO_REF:0000107 | ACCEPT | Summary: CC2D2A is required for assembly of primary cilia. Reason: Loss in mouse fibroblasts impairs axoneme formation and is rescued by the Cc2d2a transgene. This establishes an assembly role rather than an inference solely from ciliopathy association. Supporting Evidence: PMID:24947469 The mouse Cc2d2a transgene could rescue the axoneme assembly defect in Cc2d2a-/- MEFs PMID:24947469 CC2D2A is needed for the assembly of SDA at mother centriole, for stable MT anchoring and docking of transport vesicles, and for further elaboration of the transition zone. |
| GO:0060271 cilium assembly | ISS GO_REF:0000024 | ACCEPT | Summary: CC2D2A is required for assembly of primary cilia. Reason: Loss in mouse fibroblasts impairs axoneme formation and is rescued by the Cc2d2a transgene. This establishes an assembly role rather than an inference solely from ciliopathy association. Supporting Evidence: PMID:24947469 The mouse Cc2d2a transgene could rescue the axoneme assembly defect in Cc2d2a-/- MEFs PMID:24947469 CC2D2A is needed for the assembly of SDA at mother centriole, for stable MT anchoring and docking of transport vesicles, and for further elaboration of the transition zone. |
| GO:1904491 protein localization to ciliary transition zone | IBA GO_REF:0000033 | ACCEPT | Summary: CC2D2A organizes recruitment at the ciliary base. Reason: Loss disrupts localization of subdistal-appendage components and elaboration of the transition zone; this agrees with the MKS complex localization/recruitment role. Supporting Evidence: PMID:24947469 CC2D2A is needed for the assembly of SDA at mother centriole, for stable MT anchoring and docking of transport vesicles, and for further elaboration of the transition zone. |
| GO:1904491 protein localization to ciliary transition zone | IEA GO_REF:0000107 | ACCEPT | Summary: CC2D2A organizes recruitment at the ciliary base. Reason: Loss disrupts localization of subdistal-appendage components and elaboration of the transition zone; this agrees with the MKS complex localization/recruitment role. Supporting Evidence: PMID:24947469 CC2D2A is needed for the assembly of SDA at mother centriole, for stable MT anchoring and docking of transport vesicles, and for further elaboration of the transition zone. |
| GO:1904491 protein localization to ciliary transition zone | NAS PMID:22179047 A ciliopathy complex at the transition zone protects the cil... | ACCEPT | Summary: CC2D2A organizes recruitment at the ciliary base. Reason: Loss disrupts localization of subdistal-appendage components and elaboration of the transition zone; this agrees with the MKS complex localization/recruitment role. Supporting Evidence: PMID:24947469 CC2D2A is needed for the assembly of SDA at mother centriole, for stable MT anchoring and docking of transport vesicles, and for further elaboration of the transition zone. |
| GO:1905515 non-motile cilium assembly | IBA GO_REF:0000033 | ACCEPT | Summary: CC2D2A is required for assembly of primary cilia. Reason: Loss in mouse fibroblasts impairs axoneme formation and is rescued by the Cc2d2a transgene. This establishes an assembly role rather than an inference solely from ciliopathy association. Supporting Evidence: PMID:24947469 The mouse Cc2d2a transgene could rescue the axoneme assembly defect in Cc2d2a-/- MEFs PMID:24947469 CC2D2A is needed for the assembly of SDA at mother centriole, for stable MT anchoring and docking of transport vesicles, and for further elaboration of the transition zone. |
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