NPHP4 Chromosome 1
Nephrocystin 4
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What This Gene Does
This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
Gene Info
Gene Group
NPHP complex
Locus Type
gene with protein product
Location
1p36.31
Ensembl
ENSG00000131697
Associated Conditions (32)
Nephronophthisis
NPHP4-related disorder
Nephronophthisis 4
Senior-Loken syndrome 4
Inborn genetic diseases
Focal segmental glomerulosclerosis
Kidney disorder
Malignant tumor of esophagus
Familial cancer of breast
Acute myeloid leukemia
Cervical cancer
Sarcoma
Thyroid cancer
nonmedullary
1
Melanoma
Retinal dystrophy
Cholestasis
Congenital anomaly of kidney and urinary tract
Atypical hemolytic-uremic syndrome
+12 more conditions
Key Variants
RS1011986078
Conflicting classifications of pathogenicity
Nephronophthisis, Nephronophthisis
Health Risk
RS1036816659
Conflicting classifications of pathogenicity
Nephronophthisis, NPHP4-related disorder, Nephronophthisis
Health Risk
RS112206586
Conflicting classifications of pathogenicity
Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis
Health Risk
RS115272639
Conflicting classifications of pathogenicity
Nephronophthisis, Nephronophthisis
Health Risk
RS115488133
Conflicting classifications of pathogenicity
Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4
Health Risk
RS1161995349
Conflicting classifications of pathogenicity
Nephronophthisis, Nephronophthisis
Health Risk
RS116606479
Conflicting classifications of pathogenicity
Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4
Health Risk
RS117898549
Conflicting classifications of pathogenicity
Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis
Health Risk
RS1233207932
Conflicting classifications of pathogenicity
Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4
Health Risk
RS1265748598
Conflicting classifications of pathogenicity
Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4
Health Risk
RS1313851585
Conflicting classifications of pathogenicity
Nephronophthisis, Inborn genetic diseases, Nephronophthisis
Health Risk
RS1340607654
Conflicting classifications of pathogenicity
Nephronophthisis, Nephronophthisis
Health Risk
All Variants (274)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS377183096 | Health Risk | Conflicting classifications of pathogenicity | NPHP4-related disorder, Nephronophthisis, NPHP4-related disorder |
| RS377728296 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis |
| RS398124287 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS41280798 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4 |
| RS527701970 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis |
| RS527962872 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis 4 |
| RS528547815 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS545943420 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, NPHP4-related disorder, Nephronophthisis |
| RS547495754 | Health Risk | Conflicting classifications of pathogenicity | Senior-Loken syndrome 4, Nephronophthisis, Nephronophthisis 4 |
| RS549982601 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis |
| RS556579725 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Inborn genetic diseases, Senior-Loken syndrome 4 |
| RS558429618 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis |
| RS560329867 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Bardet-Biedl syndrome, Nephronophthisis |
| RS560597983 | Health Risk | Conflicting classifications of pathogenicity | Senior-Loken syndrome 4, Nephronophthisis 4, Nephronophthisis |
| RS560944258 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis |
| RS562484051 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis |
| RS568060648 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Inborn genetic diseases, Nephronophthisis |
| RS569364202 | Health Risk | Conflicting classifications of pathogenicity | Senior-Loken syndrome 4, Nephronophthisis, Nephronophthisis 4 |
| RS570380438 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS576473519 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4 |
| RS61739637 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, NPHP4-related disorder, Nephronophthisis |
| RS745843093 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4 |
| RS749799634 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS749844096 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4 |
| RS751732786 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, NPHP4-related disorder, Nephronophthisis |
| RS751938743 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, NPHP4-related disorder, Nephronophthisis |
| RS753733095 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4 |
| RS754549864 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, NPHP4-related disorder, Nephronophthisis |
| RS755240438 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS755363322 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS756370084 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4 |
| RS756449736 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, NPHP4-related disorder, Nephronophthisis |
| RS758600868 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS758757125 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, NPHP4-related disorder, Nephronophthisis |
| RS760099622 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS760440073 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS762202268 | Health Risk | Conflicting classifications of pathogenicity | Senior-Loken syndrome 4, Nephronophthisis 4, Nephronophthisis |
| RS762489156 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS762709199 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Kidney disorder, Nephronophthisis |
| RS762953303 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis |
| RS763993912 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Inborn genetic diseases, Nephronophthisis 4 |
| RS764788201 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS765514910 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis |
| RS766613810 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, NPHP4-related disorder, Nephronophthisis |
| RS766872386 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS767073232 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Inborn genetic diseases, Nephronophthisis |
| RS767115144 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS767715436 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS768099247 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS768393994 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, NPHP4-related disorder, Nephronophthisis |