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Nphp4 Gene Detail
Summary
  • Symbol
    Nphp4
  • Name
    nephronophthisis 4 (juvenile) homolog (human)
  • Synonyms
    4930564O18Rik, nmf192
  • Feature Type
    protein coding gene
  • IDs
    MGI:2384210
    NCBI Gene: 260305
  • Gene Overview
    MyGene.info: NPHP4
Location & Maps
more
  • Sequence Map
    Chr4:152476706-152563049 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      86344 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 83.14 cM, cytoband E2
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    NPHP4, nephrocystin 4
  • Vertebrate Orthologs
    9
  • Human Ortholog
    NPHP4, nephrocystin 4
    Orthology source: HomoloGene, HGNC
  • Synonyms
    POC10, SLSN4
  • Links
    NCBI Gene ID: 261734
    neXtProt AC: NX_O75161

  • Chr Location
    1p36; chr1:5862808-5992505 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Nphp4 mouse models; 2 with human NPHP4 associations

Human Disease Mouse Models
       Nephronophthisis 4; NPHP4   OMIM: 606966 View 1 model
       Senior-Loken Syndrome 4; SLSN4   OMIM: 606996
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    19 phenotypes from 1 allele in 3 genetic backgrounds
    9 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
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
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    5
  • Chemically induced (ENU)
    1
  • Gene trapped
    1
  • Targeted
    3
  • Genomic Mutations
    3 involving Nphp4
  • Incidental Mutations
Mutant mice have a mottled retina with photoreceptor degeneration and male infertility associated with oligozoospermia and asthenozoospermia.
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
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000010703 VEGA Gene Model | MGI Sequence Detail 86344 C57BL/6J ±  kb
transcript OTTMUST00000024971 VEGA | MGI Sequence Detail 4583 Not Applicable  
polypeptide OTTMUSP00000011441 VEGA | MGI Sequence Detail 1425 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    840 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 15
    cDNA 15

    Microarray probesets 4
Other
Accession IDs
less
MGI:1922543, MGI:3032505
References
more
  • Summaries
    All 32
    Diseases 1
    Gene Ontology 8
    Phenotypes 9
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:231702 Yee LE, et al., Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling. PLoS Genet. 2015 Nov;11(11):e1005627

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
09/27/2016
MGI 6.05
The Jackson Laboratory