CC2D2A
Summary: This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009].
Loading, please wait...
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:612013 Ensembl IDEnsembl:ENSG00000048342 HGNC IDHGNC:HGNC:29253 PHARMGKB IDPA162381194 Map Location4p15.32 | |||||
GO terms in CC2D2A
Loading, please wait...
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | TAS | GO:0005829 | cytosol |
| CC | IEA | GO:0005856 | cytoskeleton |
| CC | ISS | GO:0035869 | ciliary transition zone |
| CC | ISS | GO:0036038 | MKS complex |
| BP | IEA | GO:0001843 | neural tube closure |
| BP | ISS | GO:0007224 | smoothened signaling pathway |
Gene expression in normal tissue: CC2D2A
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CC2D2A
Loading, please wait...
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 |
Showing 1 to 3 of 3 rows
Gene-Drug: Aster Plot
Loading, please wait...
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD536 | PLX-4720 | 1 |
Showing 1 to 1 of 1 rows
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CC2D2A
Loading, please wait...
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.