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 |
|---|---|---|---|
| RS1011986078 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS1036816659 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, NPHP4-related disorder, Nephronophthisis |
| RS112206586 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis |
| RS115272639 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS115488133 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4 |
| RS1161995349 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS116606479 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4 |
| RS117898549 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis |
| RS1233207932 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4 |
| RS1265748598 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4 |
| RS1313851585 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Inborn genetic diseases, Nephronophthisis |
| RS1340607654 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS1367350631 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS137932153 | Health Risk | Conflicting classifications of pathogenicity | Senior-Loken syndrome 4, Nephronophthisis 4, Nephronophthisis |
| RS1384084291 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4 |
| RS139203183 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis |
| RS139767853 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4 |
| RS141538649 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, NPHP4-related disorder, Nephronophthisis |
| RS1433852047 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS145078518 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Retinal dystrophy, Senior-Loken syndrome 4 |
| RS146637048 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4 |
| RS146948888 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, NPHP4-related disorder, Nephronophthisis |
| RS147588666 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4 |
| RS1482179539 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4 |
| RS148424288 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4 |
| RS151151838 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4 |
| RS1557575235 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS1557704555 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS180721913 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, NPHP4-related disorder, Nephronophthisis 4 |
| RS183885357 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 4, Nephronophthisis, Senior-Loken syndrome 4 |
| RS185162256 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, NPHP4-related disorder, Nephronophthisis |
| RS187149431 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4 |
| RS188869698 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS190940697 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4 |
| RS191913664 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 4, Nephronophthisis, Senior-Loken syndrome 4 |
| RS199557439 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, NPHP4-related disorder, Nephronophthisis |
| RS199583130 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Congenital anomaly of kidney and urinary tract, Nephronophthisis |
| RS199628481 | Health Risk | Conflicting classifications of pathogenicity | Senior-Loken syndrome 4, Nephronophthisis, Nephronophthisis 4 |
| RS199875059 | Health Risk | Conflicting classifications of pathogenicity | Senior-Loken syndrome 4, Nephronophthisis 4, Nephronophthisis |
| RS199875603 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4 |
| RS199925943 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4 |
| RS199992272 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis |
| RS200104274 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, NPHP4-related disorder, Nephronophthisis |
| RS200166175 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, NPHP4-related disorder, Nephronophthisis |
| RS200182705 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Inborn genetic diseases, NPHP4-related disorder |
| RS200320780 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, NPHP4-related disorder, Nephronophthisis |
| RS200569946 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, NPHP4-related disorder, Nephronophthisis |
| RS200848754 | Health Risk | Conflicting classifications of pathogenicity | Senior-Loken syndrome 4, Nephronophthisis, Nephronophthisis 4 |
| RS200952409 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 4, Nephronophthisis, Senior-Loken syndrome 4 |
| RS201065230 | Health Risk | Conflicting classifications of pathogenicity | Senior-Loken syndrome 4, Nephronophthisis 4, Nephronophthisis |