NPHP3 Chromosome 3
Nephrocystin 3
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What This Gene Does
This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene. [provided by RefSeq, Feb 2011]
Gene Info
Gene Group
"Tetratricopeptide repeat domain containing|Cilia and flagella associated|Inversin complex subunits"
Locus Type
gene with protein product
Location
3q22.1
Ensembl
ENSG00000113971
Associated Conditions (21)
Nephronophthisis
Fibrotic kidney disease
Kidney disorder
NPHP3-related Meckel-like syndrome
Renal-hepatic-pancreatic dysplasia 1
Nephronophthisis 3
Atypical hemolytic-uremic syndrome
NPHP3-related disorder
Inborn genetic diseases
See cases
Joubert syndrome and related disorders
Optic atrophy
Bardet-Biedl syndrome
Retinal dystrophy
Colorectal cancer
Gastric cancer
Enlarged kidney
Multiple renal cysts
Anhydramnios
Congenital anomaly of kidney and urinary tract
+1 more conditions
Key Variants
RS1025642403
Conflicting classifications of pathogenicity
Nephronophthisis, Nephronophthisis
Health Risk
RS1057521090
Conflicting classifications of pathogenicity
Nephronophthisis, Fibrotic kidney disease, Nephronophthisis
Health Risk
RS111683745
Conflicting classifications of pathogenicity
Nephronophthisis, Nephronophthisis
Health Risk
RS111727307
Conflicting classifications of pathogenicity
Nephronophthisis, Kidney disorder, Nephronophthisis
Health Risk
RS112300370
Conflicting classifications of pathogenicity
Nephronophthisis, Kidney disorder, NPHP3-related Meckel-like syndrome
Health Risk
RS112749193
Conflicting classifications of pathogenicity
Nephronophthisis, Kidney disorder, NPHP3-related Meckel-like syndrome
Health Risk
RS113364886
Conflicting classifications of pathogenicity
Nephronophthisis, Kidney disorder, Nephronophthisis
Health Risk
RS116174472
Conflicting classifications of pathogenicity
NPHP3-related Meckel-like syndrome, Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1
Health Risk
RS116338839
Conflicting classifications of pathogenicity
Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome
Health Risk
RS117872197
Conflicting classifications of pathogenicity
Nephronophthisis, Nephronophthisis 3, NPHP3-related Meckel-like syndrome
Health Risk
RS11915053
Conflicting classifications of pathogenicity
Nephronophthisis, NPHP3-related Meckel-like syndrome, Nephronophthisis 3
Health Risk
RS119456963
Conflicting classifications of pathogenicity
Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome, Nephronophthisis 3
Health Risk
All Variants (217)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS988823074 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Nephronophthisis |
| RS1277862520 | Health Risk | Likely pathogenic | Nephronophthisis, Nephronophthisis |
| RS1280230808 | Health Risk | Likely pathogenic | Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3 |
| RS1363032805 | Health Risk | Likely pathogenic | Nephronophthisis, Nephronophthisis |
| RS1395411307 | Health Risk | Likely pathogenic | Nephronophthisis, Nephronophthisis |
| RS1404621140 | Health Risk | Likely pathogenic | NPHP3-related Meckel-like syndrome, NPHP3-related Meckel-like syndrome |
| RS1553775392 | Health Risk | Likely pathogenic | — |
| RS1576682959 | Health Risk | Likely pathogenic | — |
| RS1939111919 | Health Risk | Likely pathogenic | Nephronophthisis 3, Nephronophthisis 3 |
| RS1939183391 | Health Risk | Likely pathogenic | Nephronophthisis, Nephronophthisis |
| RS1939225674 | Health Risk | Likely pathogenic | — |
| RS2107963405 | Health Risk | Likely pathogenic | Enlarged kidney, Multiple renal cysts, Anhydramnios |
| RS2107974557 | Health Risk | Likely pathogenic | Enlarged kidney, Multiple renal cysts, Anhydramnios |
| RS2108007892 | Health Risk | Likely pathogenic | Joubert syndrome and related disorders, Joubert syndrome and related disorders |
| RS2108008280 | Health Risk | Likely pathogenic | Joubert syndrome and related disorders, Joubert syndrome and related disorders |
| RS2530376896 | Health Risk | Likely pathogenic | Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3 |
| RS2530380429 | Health Risk | Likely pathogenic | Renal-hepatic-pancreatic dysplasia 1, Renal-hepatic-pancreatic dysplasia 1 |
| RS2530385996 | Health Risk | Likely pathogenic | NPHP3-related disorder, NPHP3-related disorder |
| RS2530401396 | Health Risk | Likely pathogenic | NPHP3-related disorder, NPHP3-related disorder |
| RS2530433517 | Health Risk | Likely pathogenic | NPHP3-related disorder, NPHP3-related disorder |
| RS2530433595 | Health Risk | Likely pathogenic | Renal-hepatic-pancreatic dysplasia 1, Renal-hepatic-pancreatic dysplasia 1 |
| RS2530438233 | Health Risk | Likely pathogenic | Fibrotic kidney disease, Fibrotic kidney disease |
| RS2530438512 | Health Risk | Likely pathogenic | Nephronophthisis, Nephronophthisis |
| RS2530464195 | Health Risk | Likely pathogenic | Nephronophthisis, Nephronophthisis |
| RS547310372 | Health Risk | Likely pathogenic | Nephronophthisis, Nephronophthisis, Nephronophthisis |
| RS754332448 | Health Risk | Likely pathogenic | Nephronophthisis, Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1 |
| RS760831781 | Health Risk | Likely pathogenic | Nephronophthisis, Nephronophthisis 3, Nephronophthisis |
| RS775281384 | Health Risk | Likely pathogenic | Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome |
| RS1060499938 | Health Risk | Pathogenic | Nephronophthisis 3, Nephronophthisis 3 |
| RS119456960 | Health Risk | Pathogenic | Nephronophthisis 3, Nephronophthisis 3 |
| RS119456961 | Health Risk | Pathogenic | Nephronophthisis 3, Nephronophthisis, NPHP3-related Meckel-like syndrome |
| RS119456962 | Health Risk | Pathogenic | NPHP3-related Meckel-like syndrome, Nephronophthisis, NPHP3-related disorder |
| RS119456964 | Health Risk | Pathogenic | Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome, Nephronophthisis 3 |
| RS1215965777 | Health Risk | Pathogenic | — |
| RS1240851280 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS1311592052 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS1349623728 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS1459151671 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS1553771772 | Health Risk | Pathogenic | — |
| RS1553771818 | Health Risk | Pathogenic | — |
| RS1560000875 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS1560002113 | Health Risk | Pathogenic | Nephronophthisis, NPHP3-related Meckel-like syndrome, Nephronophthisis 3 |
| RS1560017690 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS1576660495 | Health Risk | Pathogenic | Nephronophthisis 3, NPHP3-related Meckel-like syndrome, NPHP3-related disorder |
| RS1576682880 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis 3, Nephronophthisis |
| RS1939045407 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS1939234862 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS1939543636 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS1940156340 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS1940239843 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |