CC2D2A and CEP290

Data Source:
BioGRID (pull down)

		CC2D2A	CEP290
Description		coiled-coil and C2 domain containing 2A	centrosomal protein 290
Image		No pdb structure	No pdb structure
GO Annotations	Cellular Component	Cytosol Cytoskeleton Ciliary Transition Zone MKS Complex	Gamma-tubulin Complex Extracellular Region Nucleus Cytoplasm Centrosome Centriole Cytosol Membrane Photoreceptor Connecting Cilium Protein-containing Complex Centriolar Satellite Specific Granule Lumen Ciliary Transition Zone MKS Complex
	Molecular Function		Protein Binding Identical Protein Binding Microtubule Minus-end Binding
	Biological Process	Smoothened Signaling Pathway Cilium Assembly Ciliary Basal Body-plasma Membrane Docking	G2/M Transition Of Mitotic Cell Cycle Regulation Of G2/M Transition Of Mitotic Cell Cycle Protein Transport Hindbrain Development Otic Vesicle Formation Eye Photoreceptor Cell Development Neutrophil Degranulation Positive Regulation Of Transcription, DNA-templated Pronephros Development Cilium Assembly Regulation Of Establishment Of Protein Localization Positive Regulation Of Intracellular Protein Transport Ciliary Basal Body-plasma Membrane Docking
Pathways		Anchoring of the basal body to the plasma membrane	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes Loss of proteins required for interphase microtubule organization from the centrosome Recruitment of NuMA to mitotic centrosomes Anchoring of the basal body to the plasma membrane Neutrophil degranulation AURKA Activation by TPX2
Drugs
Diseases		Joubert syndrome COACH syndrome Meckel syndrome (MKS); Meckel-Gruber syndrome	Leber congenital amaurosis (LCR) Bardet-Biedl syndrome (BBS) Joubert syndrome Senior-Loken syndrome Meckel syndrome (MKS); Meckel-Gruber syndrome
GWAS		Blood protein levels ( 28240269) General risk tolerance (MTAG) ( 30643258) Initial pursuit acceleration ( 29064472) Joint mobility (Beighton score) ( 27182965) Mean corpuscular hemoglobin ( 32888494 27863252) Mean corpuscular volume ( 29403010 32888494 27863252) Mean reticulocyte volume ( 32888494) Mean spheric corpuscular volume ( 32888494) Obesity-related traits ( 23251661) Red blood cell count ( 27863252)	Clozapine-induced agranulocytosis ( 25187353) Mild influenza (H1N1) infection ( 26379185)
Interacting Genes		1 interacting genes: CEP290	5 interacting genes: BBLN CC2D2A KIAA1328 MAPK10 PICK1
Entrez ID		57545	80184
HPRD ID		11141
Ensembl ID		ENSG00000048342	ENSG00000198707
Uniprot IDs		Q9P2K1	A0A6Q8PGB1 J3KNF5 O15078 Q05BJ6
PDB IDs
Enriched GO Terms of Interacting Partners?
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