ANLN Chromosome 7
Anillin, actin binding protein
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What This Gene Does
This gene encodes an actin-binding protein that plays a role in cell growth and migration, and in cytokinesis. The encoded protein is thought to regulate actin cytoskeletal dynamics in podocytes, components of the glomerulus. Mutations in this gene are associated with focal segmental glomerulosclerosis 8. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
Gene Info
Gene Group
Pleckstrin homology domain containing
Locus Type
gene with protein product
Location
7p14.2
Ensembl
ENSG00000011426
Associated Conditions (3)
Chronic kidney disease
ANLN-related disorder
Focal segmental glomerulosclerosis 8
Key Variants
RS138687537
Conflicting classifications of pathogenicity
Health Risk
RS139482132
Conflicting classifications of pathogenicity
Chronic kidney disease, Chronic kidney disease
Health Risk
RS139579665
Conflicting classifications of pathogenicity
Health Risk
RS141973124
Conflicting classifications of pathogenicity
ANLN-related disorder, ANLN-related disorder
Health Risk
RS142821067
Conflicting classifications of pathogenicity
Focal segmental glomerulosclerosis 8, Focal segmental glomerulosclerosis 8
Health Risk
RS143410470
Conflicting classifications of pathogenicity
Health Risk
RS145634440
Conflicting classifications of pathogenicity
Health Risk
RS148319769
Conflicting classifications of pathogenicity
Focal segmental glomerulosclerosis 8, Focal segmental glomerulosclerosis 8
Health Risk
RS150551001
Conflicting classifications of pathogenicity
ANLN-related disorder, ANLN-related disorder
Health Risk
RS201054659
Conflicting classifications of pathogenicity
Focal segmental glomerulosclerosis 8, Focal segmental glomerulosclerosis 8
Health Risk
RS371775935
Conflicting classifications of pathogenicity
Health Risk
RS372980930
Conflicting classifications of pathogenicity
Focal segmental glomerulosclerosis 8, ANLN-related disorder, Focal segmental glomerulosclerosis 8
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138687537 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS139482132 | Health Risk | Conflicting classifications of pathogenicity | Chronic kidney disease, Chronic kidney disease |
| RS139579665 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS141973124 | Health Risk | Conflicting classifications of pathogenicity | ANLN-related disorder, ANLN-related disorder |
| RS142821067 | Health Risk | Conflicting classifications of pathogenicity | Focal segmental glomerulosclerosis 8, Focal segmental glomerulosclerosis 8 |
| RS143410470 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145634440 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148319769 | Health Risk | Conflicting classifications of pathogenicity | Focal segmental glomerulosclerosis 8, Focal segmental glomerulosclerosis 8 |
| RS150551001 | Health Risk | Conflicting classifications of pathogenicity | ANLN-related disorder, ANLN-related disorder |
| RS201054659 | Health Risk | Conflicting classifications of pathogenicity | Focal segmental glomerulosclerosis 8, Focal segmental glomerulosclerosis 8 |
| RS371775935 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS372980930 | Health Risk | Conflicting classifications of pathogenicity | Focal segmental glomerulosclerosis 8, ANLN-related disorder, Focal segmental glomerulosclerosis 8 |
| RS375733596 | Health Risk | Conflicting classifications of pathogenicity | Focal segmental glomerulosclerosis 8, Focal segmental glomerulosclerosis 8 |
| RS748210737 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS776330843 | Health Risk | Conflicting classifications of pathogenicity | ANLN-related disorder, ANLN-related disorder |
| RS779142813 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1184529372 | Health Risk | Pathogenic | Focal segmental glomerulosclerosis 8, Focal segmental glomerulosclerosis 8 |
| RS587777741 | Health Risk | Pathogenic/Likely pathogenic | Focal segmental glomerulosclerosis 8, Focal segmental glomerulosclerosis 8 |