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 |
|---|---|---|---|
| RS1257152837 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS1271993311 | Health Risk | Pathogenic | Nephronophthisis 4, Nephronophthisis 4 |
| RS1278089386 | Health Risk | Pathogenic | Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis |
| RS1328836511 | Health Risk | Pathogenic | — |
| RS137852918 | Health Risk | Pathogenic | Nephronophthisis 4, Nephronophthisis, Nephronophthisis 4 |
| RS137852919 | Health Risk | Pathogenic | Nephronophthisis 4, Nephronophthisis, Nephronophthisis 4 |
| RS137852920 | Health Risk | Pathogenic | Nephronophthisis 4, Cerebello-oculo-renal syndrome (nephronophthisis, oculomotor apraxia and cerebellar abnormalities) |
| RS137852922 | Health Risk | Pathogenic | Senior-Loken syndrome 4, Nephronophthisis, Senior-Loken syndrome 4 |
| RS137852923 | Health Risk | Pathogenic | Senior-Loken syndrome 4, Nephronophthisis, Nephronophthisis 4 |
| RS1384212298 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS1419875412 | Health Risk | Pathogenic | Nephronophthisis 4, Melanoma, Lung cancer |
| RS1430741326 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS1557580413 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS1557588167 | Health Risk | Pathogenic | — |
| RS1557616007 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4 |
| RS1557768696 | Health Risk | Pathogenic | Nephronophthisis 4, Nephronophthisis 4 |
| RS1557880019 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS1644831295 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS1644833186 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS1648391557 | Health Risk | Pathogenic | Nephronophthisis 4, Nephronophthisis 4 |
| RS1650418400 | Health Risk | Pathogenic | Nephronophthisis 4, Nephronophthisis 4 |
| RS2100405990 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS2100471616 | Health Risk | Pathogenic | — |
| RS2100678099 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS2100733826 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS2101131514 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS2101924403 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS2102140073 | Health Risk | Pathogenic | — |
| RS2521518413 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS2521519226 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS2521715879 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS2522512934 | Health Risk | Pathogenic | Nephronophthisis 4, Nephronophthisis 4 |
| RS2522589875 | Health Risk | Pathogenic | Nephronophthisis 4, Nephronophthisis 4 |
| RS2523146231 | Health Risk | Pathogenic | NPHP4-related disorder, NPHP4-related disorder |
| RS2523226313 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS2523666112 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS2523692876 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS2523983926 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS28940891 | Health Risk | Pathogenic | Nephronophthisis 4, Nephronophthisis 4 |
| RS374141736 | Health Risk | Pathogenic | Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4 |
| RS398124289 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS748950922 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS753774833 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS754862360 | Health Risk | Pathogenic | Nephronophthisis 4, Nephronophthisis, Nephronophthisis 4 |
| RS757412845 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis 4, Nephronophthisis |
| RS763668545 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS768093553 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS770306587 | Health Risk | Pathogenic | Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4 |
| RS770357627 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS771318550 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |