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 |
|---|---|---|---|
| RS201069164 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, NPHP4-related disorder, Nephronophthisis |
| RS201074950 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, NPHP4-related disorder, Nephronophthisis |
| RS201090359 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, NPHP4-related disorder, Nephronophthisis |
| RS201124357 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4 |
| RS201192584 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, NPHP4-related disorder, Nephronophthisis |
| RS201488441 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, NPHP4-related disorder, Nephronophthisis |
| RS201527181 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, NPHP4-related disorder, Nephronophthisis |
| RS201591531 | Health Risk | Conflicting classifications of pathogenicity | Senior-Loken syndrome 4, Nephronophthisis 4, Inborn genetic diseases |
| RS201903713 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4 |
| RS202004152 | Health Risk | Conflicting classifications of pathogenicity | Senior-Loken syndrome 4, Nephronophthisis 4, Nephronophthisis |
| RS202179978 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4 |
| RS34248917 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4 |
| RS35575973 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4 |
| RS35641267 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4 |
| RS35959882 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Inborn genetic diseases, NPHP4-related disorder |
| RS368335406 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS368961102 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS369162678 | Health Risk | Conflicting classifications of pathogenicity | Senior-Loken syndrome 4, Nephronophthisis, Nephronophthisis 4 |
| RS369748651 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS369759221 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Inborn genetic diseases, Nephronophthisis |
| RS370899989 | Health Risk | Conflicting classifications of pathogenicity | Senior-Loken syndrome 4, Nephronophthisis, Nephronophthisis 4 |
| RS371432148 | Health Risk | Conflicting classifications of pathogenicity | Senior-Loken syndrome 4, Nephronophthisis 4, Nephronophthisis |
| RS371472576 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis |
| RS371527260 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4 |
| RS371819898 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4 |
| RS372171438 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, NPHP4-related disorder, Nephronophthisis |
| RS372256352 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Inborn genetic diseases, Nephronophthisis |
| RS372430727 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4 |
| RS372565083 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4 |
| RS373182062 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS373285520 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS373369949 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4 |
| RS373614448 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Inborn genetic diseases, Nephronophthisis 4 |
| RS373955397 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS373962831 | Health Risk | Conflicting classifications of pathogenicity | Senior-Loken syndrome 4, Nephronophthisis, Senior-Loken syndrome 4 |
| RS374003717 | Health Risk | Conflicting classifications of pathogenicity | Senior-Loken syndrome 4, Nephronophthisis, Nephronophthisis 4 |
| RS374146357 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4 |
| RS374354239 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4 |
| RS374690894 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 4, Nephronophthisis, Renal dysplasia and retinal aplasia |
| RS375090704 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS375237454 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, NPHP4-related disorder, Nephronophthisis |
| RS375416303 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4 |
| RS375429200 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Inborn genetic diseases, Nephronophthisis |
| RS375485412 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis |
| RS375493384 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, NPHP4-related disorder, Nephronophthisis |
| RS375836844 | Health Risk | Conflicting classifications of pathogenicity | NPHP4-related disorder, Nephronophthisis, Retinal dystrophy |
| RS376039101 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS376351293 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4 |
| RS376696627 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS377155892 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Inborn genetic diseases, Nephronophthisis 4 |