CEP290 and CC2D2A

Number of citations of the paper that reports this interaction (PubMedID 18950740)
46

Data Source:
BioGRID (pull down)

		CEP290	CC2D2A
Description		centrosomal protein 290	coiled-coil and C2 domain containing 2A
Image		No pdb structure	No pdb structure
GO Annotations	Cellular Component	Extracellular Region Nucleus Cytoplasm Centrosome Centriole Cytosol Cytoskeleton Cilium Membrane Cytoplasmic Vesicle Photoreceptor Connecting Cilium Protein-containing Complex Centriolar Satellite Specific Granule Lumen Ciliary Transition Zone MKS Complex Ciliary Basal Body Cell Projection	Cytoplasm Cytosol Cytoskeleton Cilium Ciliary Transition Zone MKS Complex Cell Projection
	Molecular Function	Protein Binding Identical Protein Binding Microtubule Minus-end Binding
	Biological Process	Kidney Development Protein Transport Cell Projection Organization Hindbrain Development Otic Vesicle Formation Eye Photoreceptor Cell Development Camera-type Eye Development Positive Regulation Of DNA-templated Transcription Pronephros Development Cilium Assembly Regulation Of Establishment Of Protein Localization Positive Regulation Of Intracellular Protein Transport Ciliary Basal Body-plasma Membrane Docking Ciliary Transition Zone Assembly Non-motile Cilium Assembly	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		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	Anchoring of the basal body to the plasma membrane
Drugs
Diseases		Meckel syndrome (MKS); Meckel-Gruber syndrome Bardet-Biedl syndrome (BBS) Leber congenital amaurosis (LCR) Senior-Loken syndrome Joubert syndrome	Joubert syndrome Meckel syndrome (MKS); Meckel-Gruber syndrome COACH syndrome
GWAS		Clozapine-induced agranulocytosis ( 25187353) Mild influenza (H1N1) infection ( 26379185)	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)
Interacting Genes		7 interacting genes: BBLN CC2D2A CREBBP KIAA1328 MAPK10 PICK1 TTC3	1 interacting genes: CEP290
Entrez ID		80184	57545
HPRD ID			11141
Ensembl ID		ENSG00000198707	ENSG00000048342
Uniprot IDs		A0A6Q8PGB1 A0A6Q8PGP6 J3KNF5 O15078 Q05BJ6	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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