INF2 Chromosome 14
Inverted formin 2
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What This Gene Does
This gene represents a member of the formin family of proteins. It is considered a diaphanous formin due to the presence of a diaphanous inhibitory domain located at the N-terminus of the encoded protein. Studies of a similar mouse protein indicate that the protein encoded by this locus may function in polymerization and depolymerization of actin filaments. Mutations at this locus have been associated with focal segmental glomerulosclerosis 5.[provided by RefSeq, Aug 2010]
Gene Info
Gene Group
"Armadillo like helical domain containing|Formins"
Locus Type
gene with protein product
Location
14q32.33
Ensembl
ENSG00000203485
Associated Conditions (15)
Corticosteroids response
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Lymphoma
Inborn genetic diseases
Kidney disorder
INF2-related disorder
Melanoma
Nephrotic syndrome
Hepatocellular carcinoma
Charcot-Marie-Tooth disease
Focal segmental glomerulosclerosis
Proteinuria
Renal insufficiency
Hypertensive disorder
Key Variants
RS2140672369
drug response
Corticosteroids response, Corticosteroids response
Drug Response
RS1001885245
Conflicting classifications of pathogenicity
Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
Health Risk
RS1032255653
Conflicting classifications of pathogenicity
Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
Health Risk
RS1035033414
Conflicting classifications of pathogenicity
Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
Health Risk
RS1064796974
Conflicting classifications of pathogenicity
Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
Health Risk
RS115602636
Conflicting classifications of pathogenicity
Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Lymphoma
Health Risk
RS1156240396
Conflicting classifications of pathogenicity
Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
Health Risk
RS1208616690
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
Health Risk
RS1249742050
Conflicting classifications of pathogenicity
Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
Health Risk
RS1249757355
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
Health Risk
RS1279137766
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
Health Risk
RS1356183663
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Inborn genetic diseases
Health Risk
All Variants (215)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1595164091 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E |
| RS2140648160 | Health Risk | Pathogenic | Focal segmental glomerulosclerosis, Focal segmental glomerulosclerosis |
| RS2504231588 | Health Risk | Pathogenic | — |
| RS267606877 | Health Risk | Pathogenic | Focal segmental glomerulosclerosis 5, INF2-related disorder, Focal segmental glomerulosclerosis 5 |
| RS267606880 | Health Risk | Pathogenic | Focal segmental glomerulosclerosis 5, Focal segmental glomerulosclerosis 5 |
| RS387907036 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E |
| RS387907037 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Inborn genetic diseases |
| RS1595166085 | Health Risk | Pathogenic/Likely pathogenic | Focal segmental glomerulosclerosis 5, INF2-related disorder, Charcot-Marie-Tooth disease dominant intermediate E |
| RS200247054 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Inborn genetic diseases |
| RS267606878 | Health Risk | Pathogenic/Likely pathogenic | Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5 |
| RS267606879 | Health Risk | Pathogenic/Likely pathogenic | Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Kidney disorder |
| RS267607183 | Health Risk | Pathogenic/Likely pathogenic | Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Kidney disorder |
| RS387907038 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease dominant intermediate E, Charcot-Marie-Tooth disease, Focal segmental glomerulosclerosis 5 |
| RS530391015 | Health Risk | Pathogenic/Likely pathogenic | Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency |
| RS918089359 | Health Risk | Pathogenic/Likely pathogenic | Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Charcot-Marie-Tooth disease dominant intermediate E |