NPHP4 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0035845Biological processphotoreceptor cell outer segment organization
GO_0007165Biological processsignal transduction
GO_0045494Biological processphotoreceptor cell maintenance
GO_0060041Biological processretina development in camera-type eye
GO_1903348Biological processpositive regulation of bicellular tight junction assembly
GO_0090090Biological processnegative regulation of canonical Wnt signaling pathway
GO_1904491Biological processprotein localization to ciliary transition zone
GO_0030036Biological processactin cytoskeleton organization
GO_0030317Biological processflagellated sperm motility
GO_0098609Biological processcell-cell adhesion
GO_0007632Biological processvisual behavior
GO_0005813Cellular componentcentrosome
GO_0005654Cellular componentnucleoplasm
GO_0005814Cellular componentcentriole
GO_0005911Cellular componentcell-cell junction
GO_0097470Cellular componentribbon synapse
GO_0097730Cellular componentnon-motile cilium
GO_0016604Cellular componentnuclear body
GO_0005829Cellular componentcytosol
GO_0035869Cellular componentciliary transition zone
GO_0097546Cellular componentciliary base
GO_0005923Cellular componentbicellular tight junction
GO_0043231Cellular componentintracellular membrane-bounded organelle
GO_0036064Cellular componentciliary basal body
GO_0120206Cellular componentphotoreceptor distal connecting cilium
GO_0005198Molecular functionstructural molecule activity
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameNPHP4
Protein nameNephrocystin 4
Nephrocystin-4 (Nephroretinin)
SynonymsKIAA0673
DescriptionFUNCTION: Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module . Does not seem to be strictly required for ciliogenesis . Required for building functional cilia. Involved in the organization of the subapical actin network in multiciliated epithelial cells. Seems to recruit INT to basal bodies of motile cilia which subsequently interacts with actin-modifying proteins such as DAAM1 (By similarity). In cooperation with INVS may down-regulate 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 . Acts as a negative regulator of the hippo pathway by association with LATS1 and modifying LATS1-dependent phosphorylation and localization of WWTR1/TAZ . .

AccessionsENST00000489180.6 [O75161-2]
H0YA08
O75161
ENST00000622020.4 [O75161-2]
D6RA06
ENST00000378169.7
ENST00000466897.1
ENST00000378156.9 [O75161-1]