G2Cdb::Gene report

Curated Gene: OTTHUMG00000012109 (Vega human gene)
Gene: ENSG00000163399 (Ensembl human gene); 476 (Entrez Gene); 100 (G2Cdb plasticity & disease); ATP1A1 (GeneCards)
Literature: 182310 (OMIM)
Marker Symbol: HGNC:799 (HGNC)
Protein Expression: 1988 (human protein atlas)
Protein Sequence: P05023 (UniProt)

Disease	Nervous effect	Mutations Found	Literature	Mutations Type	Genetic association?
D00000210: Thyrotoxic periodic paralysis	N	Y	(15001631)	Single nucleotide polymorphism (SNP)	N
D00000192: Dystonia parkinsonism (rapid onset)	Y	Y	(15260953)	Microinsertion (MI)	Y
D00000192: Dystonia parkinsonism (rapid onset)	Y	Y	(15260948)	Microinsertion (MI)	Y
D00000170: Bipolar disorder	Y	Y	(9646882)	Dinucleotide polymorphism (DNP)	Y
D00000137: Diabetic nephropathy	N	Y	(15198370)	Restriction fragment length polymorphism (RFLP)	Y
D00000140: Diabetes mellitus Type 1	N	Y	(15198370)	Polymorphism (P)	?
D00000142: Diabetes mellitus Type 2	N	Y	(15198370)	Polymorphism (P)	?

Gene List	Source	Species	Name	Description	Gene count
L00000009	G2C	Homo sapiens	Human PSD	Human orthologues of mouse PSD adapted from Collins et al (2006)	1080
L00000011	G2C	Homo sapiens	Human clathrin	Human orthologues of mouse clathrin coated vesicle genes adapted from Collins et al (2006)	150
L00000012	G2C	Homo sapiens	Human Synaptosome	Human orthologues of mouse synaptosome adapted from Collins et al (2006)	152
L00000013	G2C	Homo sapiens	Human mGluR5	Human orthologues of mouse mGluR5 complex adapted from Collins et al (2006)	52
L00000014	G2C	Homo sapiens	Human ARC	Human orthologues of mouse AMPA receptor complex adapted from Collins et al (2006)	9
L00000015	G2C	Homo sapiens	Human NRC	Human orthologues of mouse NRC adapted from Collins et al (2006)	186
L00000016	G2C	Homo sapiens	Human PSP	Human orthologues of mouse PSP adapted from Collins et al (2006)	1121
L00000041	G2C	Homo sapiens	Pocklington H10	Human orthologues of cluster 10 (mouse) from Pocklington et al (2006)	3
L00000059	G2C	Homo sapiens	BAYES-COLLINS-HUMAN-PSD-CONSENSUS	Human cortex PSD consensus	748
L00000061	G2C	Homo sapiens	BAYES-COLLINS-MOUSE-PSD-CONSENSUS	Mouse cortex PSD consensus (ortho)	984
L00000069	G2C	Homo sapiens	BAYES-COLLINS-HUMAN-PSD-FULL	Human cortex biopsy PSD full list	1461
L00000071	G2C	Homo sapiens	BAYES-COLLINS-MOUSE-PSD-FULL	Mouse cortex PSD full list (ortho)	1556