CC2D2A

Description		coiled-coil and C2 domain containing 2A
Image		No pdb structure
GO Annotations	Cellular Component	Cytoplasm Cytosol Cytoskeleton Cilium Ciliary Transition Zone MKS Complex Cell Projection
	Molecular Function
	Biological Process	Kidney Development Neural Tube Closure Smoothened Signaling Pathway Determination Of Left/right Symmetry Heart Development Cell Projection Organization Axoneme Assembly Camera-type Eye Development Motile Cilium Assembly Cilium Assembly Protein Localization To Ciliary Transition Zone Non-motile Cilium Assembly Embryonic Brain Development
Pathways		Anchoring of the basal body to the plasma membrane
Drugs
Diseases		Joubert syndrome Meckel syndrome (MKS); Meckel-Gruber syndrome COACH syndrome
GWAS		General risk tolerance (MTAG) ( 30643258) Initial pursuit acceleration ( 29064472) Joint mobility (Beighton score) ( 27182965) Mean corpuscular hemoglobin ( 27863252 32888494) Mean corpuscular volume ( 27863252 29403010 32888494) Mean reticulocyte volume ( 32888494) Mean spheric corpuscular volume ( 32888494) Obesity-related traits ( 23251661) Red blood cell count ( 27863252)
Novel Interacting Genes		3 novel interacting genes: CPEB2 NCAPG RAB28
Interacting Genes		1 interacting genes: CEP290
Entrez ID		57545
HPRD ID		11141
Ensembl ID		ENSG00000048342
Uniprot IDs		H0Y941 Q9P2K1
PDB IDs
Enriched GO Terms of Interacting Partners?		Ciliary Rootlet Ciliary Basal Body Condensin Complex Positive Regulation Of Chromosome Condensation Pronephros Development Otic Vesicle Formation Ciliary Transition Zone Assembly Ciliary Basal Body-plasma Membrane Docking Negative Regulation Of Cytoplasmic Translation Negative Regulation Of Translational Elongation Negative Regulation Of Cytoplasmic Translational Elongation Regulation Of Chromosome Condensation MKS Complex Microtubule Minus-end Binding GTPase Inhibitor Activity Ribosomal Large Subunit Binding Regulation Of Translational Elongation Condensed Chromosome, Centromeric Region Mitotic Chromosome Condensation MRNA Regulatory Element Binding Translation Repressor Activity Translation Regulator Activity Hindbrain Development Ribosomal Small Subunit Binding Translation Factor Activity, RNA Binding
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