G2Cdb::Gene report

Curated Gene: OTTHUMG00000070478 (Vega human gene)
Gene: ENSG00000130402 (Ensembl human gene); 81 (Entrez Gene); 170 (G2Cdb plasticity & disease); ACTN4 (GeneCards)
Literature: 604638 (OMIM)
Marker Symbol: HGNC:166 (HGNC)
Protein Expression: 1873 (human protein atlas)
Protein Sequence: O43707 (UniProt)

Disease	Nervous effect	Mutations Found	Literature	Mutations Type	Genetic association?
D00000267: Focal segmental glomerulosclerosis	N	Y	(16251236)	Single nucleotide polymorphism (SNP)	Y
D00000267: Focal segmental glomerulosclerosis	N	Y	(16251236)	Single nucleotide deletion (SND)	Y
D00000269: Congenital nephrotic syndrome	N	Y	(15780077)	No mutation found (N)	N
D00000267: Focal segmental glomerulosclerosis	N	Y	(15627790)	Single nucleotide polymorphism (SNP)	N

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
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
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