NPHP4

NPHP4
Identifiers
Aliases	NPHP4, POC10, SLSN4, nephronophthisis 4, nephrocystin 4
External IDs	OMIM: 607215; MGI: 2384210; HomoloGene: 9024; GeneCards: NPHP4; OMA:NPHP4 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	5,992,473 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	152,647,640 bp
RNA expression pattern
	Top expressed in
	right uterine tube; ; anterior pituitary; ; right lobe of thyroid gland; ; left lobe of thyroid gland; ; right testis; ; left testis; ; skin of abdomen; ; right frontal lobe; ; skin of leg; ; stromal cell of endometrium;
	Top expressed in
	lumbar subsegment of spinal cord; ; primary visual cortex; ; superior frontal gyrus; ; neural layer of retina; ; secondary oocyte; ; dentate gyrus of hippocampal formation granule cell; ; spermatocyte; ; olfactory tubercle; ; spermatid; ; prefrontal cortex;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	structural molecule activity; protein binding;
Cellular component	photoreceptor connecting cilium; ciliary transition zone; cytoplasm; ribbon synapse; microtubule organizing center; cell projection; cytosol; cell junction; cell-cell junction; ciliary base; centrosome; bicellular tight junction; cilium; cytoskeleton; nucleus; ciliary basal body; non-motile cilium;
Biological process	retina development in camera-type eye; signal transduction; photoreceptor cell outer segment organization; visual behavior; actin cytoskeleton organization; photoreceptor cell maintenance; hippo signaling; flagellated sperm motility; positive regulation of bicellular tight junction assembly; negative regulation of canonical Wnt signaling pathway; ciliary basal body-plasma membrane docking; cell-cell adhesion; protein localization to ciliary transition zone;
	Sources:Amigo / QuickGO
Orthologs
	261734
	260305
	ENSG00000131697
	ENSMUSG00000039577
	O75161
	P59240
	NM_001291593; NM_001291594; NM_015102
	NM_153424; NM_001355738; NM_001355739
	NP_001278522; NP_001278523; NP_055917
	NP_700473; NP_001342667; NP_001342668
	Wikidata
View/Edit Human	View/Edit Mouse

Nephrocystin-4 is a protein that in humans is encoded by the NPHP4 gene.^[5]^[6]^[7]

AliasesNPHP4, POC10, SLSN4, nephronophthisis 4, nephrocystin 4

External IDsOMIM: 607215; MGI: 2384210; HomoloGene: 9024; GeneCards: NPHP4; OMA:NPHP4 - orthologs

Chr.Chromosome 1 (human)^[1]

End5,992,473 bp^[1]

Quick facts Identifiers, Aliases ...

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This gene encodes a protein which contains a proline-rich region. The encoded protein may function in renal tubular development and function.

This protein interacts with nephrocystin. Mutations in this gene are associated with nephronophthisis type 4. Multiple alternative transcript variants have been described but their full-length nature has not been determined.^[7]

[5]

[6]

[7]

[1]

[2]

[3]

[4]

NPHP4

References

Further reading

Related Articles

Related Articles

"Mapping of gene loci for nephronophthisis type 4 and Senior-Loken syndrome, to chromosome 1p36"

"A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution"

"Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences"

"Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations"

"Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns"