NPHP4

SNP Table

variant	genotype	frequency	risk allele
rs12142270
rs1287637
rs137852920
rs2282281
rs3747992
rs12116997
rs12120967
rs3747990
rs555164
rs34248917
rs10779685
rs10864303
rs11120934
rs11120935
rs11120936
rs11120937
rs11588889
rs12729290
rs12745395
rs1295111

31543 associated SNPs in total

Get Your Variants

Find on This Page

Summary GHR Function Frequently Asked Questions

Summary

The gene codes for a protein, nephrocystin 4. Mutations are linked to nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4 [R].

Protein names

nephrocystin 4 [Source:HGNC Symbol;Acc:HGNC:19104]

GHR Function

Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module (PubMed:19755384, PubMed:21565611). Does not seem to be strictly required for ciliogenesis (PubMed:21565611). Required for building functional cilia. Involved in the organization of the subapical actin network in multiciliated epithelial cells. Seems to recruits INT to basal bodies of motile cilia which subsequently interacts with actin-modifying proteins such as DAAM1 (By similarity). In cooperation with INVS may downregulate the canonical Wnt pathway and promote the Wnt-PCP pathway by regulating expression and subcellular location of disheveled proteins. Stabilizes protein levels of JADE1 and promotes its translocation to the nucleus leading to cooperative inhibition of canonical Wnt signaling (PubMed:21498478, PubMed:22654112). Acts as negative regulator of the hippo pathway by association with LATS1 and modifying LATS1-dependent phosphorylation and localization of WWTR1/TAZ (PubMed:21555462).

More Information

Covered on Genetics Home Reference: nephronophthisisSenior-Løken syndromeFrom NCBI Gene: Nephronophthisis 4Senior-Loken syndrome 4From UniProt: Nephronophthisis 4 (NPHP4): An autosomal recessive inherited disease resulting in end-stage renal disease at age ranging between 6 and 35 years. It is a progressive tubulo-interstitial kidney disorder characterized by polydipsia, polyuria, anemia and growth retardation. The most prominent histological features are modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. [MIM:606966] Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including NPHP4, influence the clinical outcome (PubMed:21258341). Senior-Loken syndrome 4 (SLSN4): A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. [MIM:606996]

From NCBI Gene: 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] From UniProt: Involved in the organization of apical junctions in kidney cells together with NPHP1 and RPGRIP1L/NPHP8. Does not seem to be strictly required for ciliogenesis.

Frequently Asked Questions

Why Are Alleles for This SNP Different Elsewhere? Major vs. Reference Allele Is My Variant Good or Bad? SNP vs. Mutation

Unlock Personalized Results And So Much More!

Shipping Worldwide

30-Days Money-Back Guarantee*

HSA/FSA Eligible

Essential Bundle

SelfDecode DNA Kit

24/7 AI Health Coach
1250+ Comprehensive DNA Health Reports
Personalized Diet, Supplement, & Lifestyle Recommendations
Lifestyle Risk Assessments
Unlimited access to Labs Analyzer

$418

$376

Men's Health Month 10% Off

Essential

Bundle

Everything in essential
SelfDecode DNA Kit
Methylation Pathway
+130 Medical Reports
25+ Longevity Screener Risk Assessments

Odds ratios to evaluate your risk for 25+ medical conditions
10-year risk scores to prioritize health conditions
Lifetime risk scores to plan for long-term health

$667

$566

Men's Health Month 15% Off

Men's Health Month 30% Off

Ultimate Bundle

Everything in essential+
SelfDecode DNA Kit
Medication Check (PGx testing) for 50+ medications
40+ Family Planning (Carrier Status) Reports
Ancestry Percentages
Mitochondrial Ancestry

$894

$625

* SelfDecode DNA kits are non-refundable. If you choose to cancel your plan within 30 days you will not be refunded the cost of the kit.

We will never share your data

We follow HIPAA and GDPR policies

We have World-Class Encryption & Security

People Love Us

Rated 4.7/5 from 750+ reviews

People Trust Us

200,000+ users, 2,000+ doctors & 80+ businesses

SelfDecode is a personalized health report service, which enables users to obtain detailed information and reports based on their genome. SelfDecode strongly encourages those who use our service to consult and work with an experienced healthcare provider as our services are not to replace the relationship with a licensed doctor or regular medical screenings.

Policies

About

Support
Our Team
Affiliate Program
Privacy
Media