Contents

NPHP4

Protein-coding gene in the species Homo sapiens

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)[1] Band 1p36.31 Start 5,862,811 bp[1] End 5,992,473 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 E2 Start 152,561,163 bp[2] End 152,647,640 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 261734 260305 Ensembl ENSG00000131697 ENSMUSG00000039577 UniProt O75161 P59240 RefSeq (mRNA) NM_001291593 NM_001291594 NM_015102 NM_153424 NM_001355738 NM_001355739 RefSeq (protein) NP_001278522 NP_001278523 NP_055917 NP_700473 NP_001342667 NP_001342668 Location (UCSC) Chr 1: 5.86 – 5.99 Mb Chr 4: 152.56 – 152.65 Mb PubMed search [3] [4]
Wikidata
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Nephrocystin-4 is a protein that in humans is encoded by the NPHP4 gene.^[5][6][7]

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]

References[edit]

Further reading[edit]

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