G2Cdb::Gene report

Gene id
G00001793
Gene symbol
ACTN4 (HGNC)
Species
Homo sapiens
Description
actinin, alpha 4
Orthologue
G00000544 (Mus musculus)

Databases (9)

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)

Diseases (2)

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

References

Literature (73)

Pubmed - human_disease

Pubmed - other

Gene lists (7)

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
© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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