G2Cdb::Gene report
- Gene id
- G00001793
- Gene symbol
- ACTN4 (HGNC)
- Species
- Homo sapiens
- Description
- actinin, alpha 4
- Orthologue
- G00000544 (Mus musculus)
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 |
