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 |
|---|---|---|---|
| RS769077319 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, NPHP4-related disorder, Nephronophthisis |
| RS774354969 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, NPHP4-related disorder, Nephronophthisis |
| RS774461392 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Inborn genetic diseases, Nephronophthisis |
| RS775251652 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS775487057 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS778043242 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis 4, Autosomal. recessive NPHP4-related disorders |
| RS778306754 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis |
| RS779230173 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS779482394 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS77973802 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, NPHP4-related disorder, Senior-Loken syndrome 4 |
| RS779755743 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS886043364 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Inborn genetic diseases, Nephronophthisis |
| RS908276068 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4 |
| RS941893164 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS9662691 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS974196549 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis |
| RS1195128294 | Health Risk | Likely pathogenic | Nephronophthisis, Nephronophthisis, Nephronophthisis |
| RS1204924769 | Health Risk | Likely pathogenic | Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis 4 |
| RS1294693530 | Health Risk | Likely pathogenic | Nephronophthisis, Nephronophthisis |
| RS1439234327 | Health Risk | Likely pathogenic | Nephronophthisis, Nephronophthisis |
| RS1449454752 | Health Risk | Likely pathogenic | — |
| RS1557578607 | Health Risk | Likely pathogenic | — |
| RS1557895715 | Health Risk | Likely pathogenic | Nephronophthisis, Nephronophthisis |
| RS1570504754 | Health Risk | Likely pathogenic | Nephronophthisis 4, Nephronophthisis 4 |
| RS1641316046 | Health Risk | Likely pathogenic | Senior-Loken syndrome 4, Senior-Loken syndrome 4 |
| RS1642345798 | Health Risk | Likely pathogenic | Nephronophthisis, Nephronophthisis |
| RS1642683882 | Health Risk | Likely pathogenic | Nephronophthisis, Nephronophthisis |
| RS1643875847 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1643882944 | Health Risk | Likely pathogenic | Nephronophthisis, Nephronophthisis |
| RS1647148516 | Health Risk | Likely pathogenic | Nephronophthisis, Nephronophthisis |
| RS1652115764 | Health Risk | Likely pathogenic | Nephronophthisis, Nephronophthisis |
| RS2100733763 | Health Risk | Likely pathogenic | Nephronophthisis, Nephronophthisis |
| RS2102003035 | Health Risk | Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS2102455183 | Health Risk | Likely pathogenic | Nephronophthisis, Nephronophthisis |
| RS2523123174 | Health Risk | Likely pathogenic | Nephronophthisis 4, Nephronophthisis 4 |
| RS2523690043 | Health Risk | Likely pathogenic | NPHP4-related disorder, NPHP4-related disorder |
| RS2523978952 | Health Risk | Likely pathogenic | Nephronophthisis, Nephronophthisis |
| RS564232197 | Health Risk | Likely pathogenic | Nephronophthisis, Nephronophthisis |
| RS746243637 | Health Risk | Likely pathogenic | Nephronophthisis, Nephronophthisis |
| RS747699128 | Health Risk | Likely pathogenic | Senior-Loken syndrome 4, Nephronophthisis 4, Senior-Loken syndrome 4 |
| RS752910449 | Health Risk | Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS761142233 | Health Risk | Likely pathogenic | Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4 |
| RS761183927 | Health Risk | Likely pathogenic | Nephronophthisis 4, Nephronophthisis 4 |
| RS765043646 | Health Risk | Likely pathogenic | Nephronophthisis 4, Nephronophthisis 4 |
| RS765460065 | Health Risk | Likely pathogenic | Nephronophthisis, Nephronophthisis |
| RS778642094 | Health Risk | Likely pathogenic | Nephronophthisis, Nephronophthisis |
| RS867255315 | Health Risk | Likely pathogenic | Nephronophthisis, Nephronophthisis |
| RS1025515771 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4 |
| RS113413307 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS1237376396 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis 4, Nephronophthisis |