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Nphp3 Gene Detail
Summary
  • Symbol
    Nphp3
  • Name
    nephronophthisis 3 (adolescent)
  • Synonyms
    3632410F03Rik, D330020E01Rik, nephrocystin 3, pcy
  • Feature Type
    protein coding gene
  • IDs
    MGI:1921275
    NCBI Gene: 74025
  • Gene Overview
    MyGene.info: NPHP3
Location & Maps
more
  • Sequence Map
    Chr9:104002544-104153483 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      150940 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    NPHP3, nephronophthisis 3 (adolescent)
  • Vertebrate Orthologs
    9
  • Human Ortholog
    NPHP3, nephronophthisis 3 (adolescent)
    Orthology source: HomoloGene
  • Synonyms
    CFAP31, MKS7, NPH3, RHPD, RHPD1, SLSN3
  • Links
    NCBI Gene ID: 27031
    neXtProt AC: NX_Q7Z494

  • Chr Location
    3q22.1; chr3:132680609-132722459 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Nphp3 mouse models; 3 with human NPHP3 associations

Human Disease Mouse Models
       Nephronophthisis 3; NPHP3   OMIM: 604387 View 2 models
       Meckel Syndrome, Type 7; MKS7   OMIM: 267010
Renal-Hepatic-Pancreatic Dysplasia 1; RHPD1   OMIM: 208540
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    33 phenotypes from 3 alleles in 8 genetic backgrounds
    2 phenotypes from multigenic genotypes
    20 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    4
  • Chemically induced (ENU)
    1
  • Gene trapped
    1
  • Spontaneous
    1
  • Targeted
    1
  • Incidental Mutations
Homozygous hypomorphic mice display slowly progressing kidney cysts, enlarged kidneys, increased blood urea nitrogen, kidney inflammation and associated fibrosis, and premature death. Homozygous null mice display mid gestational lethality with partial penetrance of situs inversus.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000031730 VEGA Gene Model | MGI Sequence Detail 150940 C57BL/6J ±  kb
transcript OTTMUST00000078589 VEGA | MGI Sequence Detail 5899 Not Applicable  
polypeptide OTTMUSP00000041811 VEGA | MGI Sequence Detail 1325 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    1294 from dbSNP Build 142
Protein
Information
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  • UniProt
    6 Sequences
  • Protein Ontology
    PR:000011363 nephrocystin-3
  • InterPro Domains
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
    IPR011009 Protein kinase-like domain
    IPR011990 Tetratricopeptide-like helical domain
    IPR019734 Tetratricopeptide repeat
    IPR013026 Tetratricopeptide repeat-containing domain
Molecular
Reagents
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  • All nucleic 25
    cDNA 25

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-13202, MGI:2143088, MGI:2442457, MGI:97521
References
more
  • Summaries
    All 57
    Developmental Gene Expression 4
    Diseases 3
    Gene Ontology 10
    Phenotypes 20
  • Earliest
    J:8302 Takahashi H, et al., A new mouse model of genetically transmitted polycystic kidney disease. J Urol. 1986 Jun;135(6):1280-3
  • Latest
    J:222987 Yamaguchi T, et al., Renal cyclooxygenase products are higher and lipoxygenase products are lower in early disease in the pcy mouse model of adolescent nephronophthisis. Lipids. 2014 Jan;49(1):39-47

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory