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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
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:104002544-104043811 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 56.11 cM
  • Mapping Data
    9 experiments
Strain
Comparison
more
  • SNPs within 2kb
    491 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1921275
protein coding gene Chr9:104002544-104153483 (.)
129S1/SvImJ MGP_129S1SvImJ_G0035202
protein coding gene Chr9:105646059-105809445 (+)
A/J MGP_AJ_G0035182
protein coding gene Chr9:101852317-102006313 (+)
AKR/J MGP_AKRJ_G0035114
protein coding gene Chr9:104376774-104539041 (+)
BALB/cJ MGP_BALBcJ_G0035175
protein coding gene Chr9:101564480-101720161 (+)
C3H/HeJ MGP_C3HHeJ_G0034885
protein coding gene Chr9:104761872-104919780 (+)
C57BL/6NJ MGP_C57BL6NJ_G0035695
protein coding gene Chr9:108570113-108739504 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0032593
protein coding gene Chr9:99427976-99573427 (+)
CAST/EiJ MGP_CASTEiJ_G0034197
protein coding gene Chr9:104629578-104801543 (+)
CBA/J MGP_CBAJ_G0034854
protein coding gene Chr9:112345849-112525959 (+)
DBA/2J MGP_DBA2J_G0035015
protein coding gene Chr9:101337624-101489020 (+)
FVB/NJ MGP_FVBNJ_G0034963
protein coding gene Chr9:100141046-100294985 (+)
LP/J MGP_LPJ_G0035091
protein coding gene Chr9:105855048-106017340 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035002
protein coding gene Chr9:114118979-114291166 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0035717
protein coding gene Chr9:104616698-104776296 (+)
PWK/PhJ MGP_PWKPhJ_G0033904
protein coding gene Chr9:101620103-101775969 (+)
SPRET/EiJ MGP_SPRETEiJ_G0033739
protein coding gene Chr9:104696401-104853688 (+)
WSB/EiJ MGP_WSBEiJ_G0034317
protein coding gene Chr9:104492362-104662635 (+)



Homology
more
  • Human Ortholog
    NPHP3, nephrocystin 3
  • Vertebrate Orthologs
    9
  • Human Ortholog
    NPHP3, nephrocystin 3
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CFAP31, MKS7, NPH3, RHPD, RHPD1, SLSN3
  • Links
    NCBI Gene ID: 27031
    neXtProt AC: NX_Q7Z494
    UniProt: Q7Z494

  • Chr Location
    3q22.1; chr3:132680609-132722459 (-)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 2 models
      
IDs
View 2 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    4 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
    22 phenotype references
Phenotype Overview

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

Click cells to view annotations.
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
less
  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 74025 NCBI Gene Model | MGI Sequence Detail 41268 C57BL/6J ±  kb
    transcript NM_028721 RefSeq | MGI Sequence Detail 5894 C57BL/6  
    polypeptide Q7TNH6 UniProt | EBI | MGI Sequence Detail 1325 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 26
      cDNA 26

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-13202, MGI:2143088, MGI:2442457, MGI:97521
    References
    more
    • Summaries
      All 61
      Developmental Gene Expression 7
      Diseases 4
      Gene Ontology 10
      Phenotypes 22
    • 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:261989 Nakajima Y, et al., The Inv compartment of renal cilia is an intraciliary signal-activating center to phosphorylate ANKS6. Kidney Int. 2018 May;93(5):1108-1117

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory