C2CD3
Summary: This gene encodes a protein that functions as a regulator of centriole elongation. Studies of the orthologous mouse protein show that it promotes centriolar distal appendage assembly and is also required for the recruitment of other ciliogenic proteins, including intraflagellar transport proteins. Mutations in this gene cause orofaciodigital syndrome XIV (OFD14), a ciliopathy resulting in malformations of the oral cavity, face and digits. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:615944 Ensembl IDEnsembl:ENSG00000168014 HGNC IDHGNC:HGNC:24564 PHARMGKB IDPA162379082 Map Location11q13.4 | |||||
GO terms in C2CD3
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0005515 | protein binding |
| BP | IEA | GO:0001701 | in utero embryonic development |
| BP | IEA | GO:0001947 | heart looping |
| BP | IEA | GO:0007420 | brain development |
| BP | IEA | GO:0008589 | regulation of smoothened signaling pathway |
| BP | IEA | GO:0016485 | protein processing |
Gene expression in normal tissue: C2CD3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in C2CD3
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1852241 | Organelle biogenesis and maintenance |
| reactome | R-HSA-5617833 | Cilium Assembly |
| reactome | R-HSA-5620912 | Anchoring of the basal body to the plasma membrane |
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Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 1 |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in C2CD3
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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