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 |
|---|---|---|---|
| RS775221217 | Health Risk | Pathogenic | Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis |
| RS775612958 | Health Risk | Pathogenic | Nephronophthisis 4, Nephronophthisis, Nephronophthisis 4 |
| RS776535691 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4 |
| RS777884325 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS780268322 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS997408852 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis 4, Nephronophthisis |
| RS1168286961 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4 |
| RS1179512510 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4 |
| RS1210874691 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4 |
| RS1235304713 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4 |
| RS1368105372 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4 |
| RS1414888414 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4 |
| RS1474013513 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4 |
| RS1553178047 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis |
| RS1553200990 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis 4, Nephronophthisis, Nephronophthisis 4 |
| RS2100466824 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Nephronophthisis 4, Nephronophthisis |
| RS2100620614 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4 |
| RS370210428 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Senior-Loken syndrome 4, NPHP4-related disorder |
| RS751662952 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4 |
| RS756111113 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Kidney disorder, Senior-Loken syndrome 4 |
| RS758275952 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4 |
| RS762371581 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis 4 |
| RS780905861 | Health Risk | Pathogenic/Likely pathogenic | Senior-Loken syndrome 4, Kidney disorder, Nephronophthisis |
| RS781558715 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4 |