NPHP3

Identifiers

Aliases, CFAP31, MKS7, NPH3, RHPD, RHPD1, SLSN3, nephronophthisis 3 (adolescent), nephrocystin 3

External IDsOMIM: ; MGI: ; HomoloGene: ; GeneCards: ; OMA:

Gene location ( Human )

Chr.Chromosome 3 (human)

Band 3q22.1 Start 132,680,609 bp

End132,722,432 bp

Gene location ( Mouse )

Chr.Chromosome 9 (mouse)

Band 9 F1|9 56.11 cM Start 103,879,743 bp

End103,921,017 bp

RNA expression patternHumanMouse (ortholog)superficial temporal artery synovial membrane left ovary thymus right uterine tube Achilles tendon urethra right ovary canal of the cervix mucosa of paranasal sinusventricular zone tail of embryo genital tubercle right kidney superior frontal gyrus primary visual cortex zygote embryo yolk sac embryon/a

RNA expression pattern

HumanMouse (ortholog)superficial temporal artery synovial membrane left ovary thymus right uterine tube Achilles tendon urethra right ovary canal of the cervix mucosa of paranasal sinusventricular zone tail of embryo genital tubercle right kidney superior frontal gyrus primary visual cortex zygote embryo yolk sac embryo

Human Mouse (ortholog)

superficial temporal artery synovial membrane left ovary thymus right uterine tube Achilles tendon urethra right ovary canal of the cervix mucosa of paranasal sinusventricular zone tail of embryo genital tubercle right kidney superior frontal gyrus primary visual cortex zygote embryo yolk sac embryo

superficial temporal artery synovial membrane left ovary thymus right uterine tube Achilles tendon urethra right ovary canal of the cervix mucosa of paranasal sinus

ventricular zone tail of embryo genital tubercle right kidney superior frontal gyrus primary visual cortex zygote embryo yolk sac embryo

n/a

Gene ontologyMolecular functionCellular componentBiological processSources: /

Gene ontology

Molecular function

Cellular component

Biological process

Sources: /

OrthologsSpeciesHumanMouseEntrez Ensembl UniProtRefSeq (mRNA)RefSeq (protein)Location (UCSC)PubMed search

Orthologs

Species Human Mouse

Entrez

Ensembl

UniProt

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

PubMed search

Wikidata

View/Edit HumanView/Edit Mouse

Nephrocystin-3 is a protein that in humans is encoded by the NPHP3 gene.

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 and may function in renal tubular development and function. Mutations in this gene are associated with nephronophthisis type 3. Multiple splice variants have been described but their full-length nature has not been determined.

An association with renal-hepatic-pancreatic dysplasia has been described.

NPHP3

Further reading