About   Help   FAQ
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
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:152476706-152563183 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 83.14 cM, cytoband E2
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    842 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2384210
protein coding gene Chr4:152473880-152563184 (.)
129S1/SvImJ MGP_129S1SvImJ_G0029183
protein coding gene Chr4:156602096-156696846 (+)
A/J MGP_AJ_G0029148
protein coding gene Chr4:150038224-150126403 (+)
AKR/J MGP_AKRJ_G0029096
protein coding gene Chr4:154114926-154207180 (+)
BALB/cJ MGP_BALBcJ_G0029164
protein coding gene Chr4:150505213-150593166 (+)
C3H/HeJ MGP_C3HHeJ_G0028885
protein coding gene Chr4:154680014-154766671 (+)
C57BL/6NJ MGP_C57BL6NJ_G0029613
protein coding gene Chr4:162221424-162319712 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026859
protein coding gene Chr4:142377432-142463545 (+)
CAST/EiJ MGP_CASTEiJ_G0028298
protein coding gene Chr4:152030475-152120133 (+)
CBA/J MGP_CBAJ_G0028847
protein coding gene Chr4:167053202-167162520 (+)
DBA/2J MGP_DBA2J_G0028996
protein coding gene Chr4:150087947-150175682 (+)
FVB/NJ MGP_FVBNJ_G0028960
protein coding gene Chr4:149258234-149348698 (+)
LP/J MGP_LPJ_G0029086
protein coding gene Chr4:156525548-156625795 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0028987
protein coding gene Chr4:170053874-170142923 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0029645
protein coding gene Chr4:154655646-154753249 (+)
PWK/PhJ MGP_PWKPhJ_G0028018
protein coding gene Chr4:146149368-146248271 (+)
SPRET/EiJ MGP_SPRETEiJ_G0027852
protein coding gene Chr4:148941783-149039117 (+)
WSB/EiJ MGP_WSBEiJ_G0028378
protein coding gene Chr4:154844964-154938249 (+)



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
    UniProt: O75161

  • Chr Location
    1p36.31; chr1:5862808-5992473 (-)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
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
less
  • 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
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.
Mutant mice have a mottled retina with photoreceptor degeneration and male infertility associated with oligozoospermia and asthenozoospermia.
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
  • cDNA Data
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000039577 Ensembl Gene Model | MGI Sequence Detail 86478 C57BL/6J ±  kb
transcript ENSMUST00000056567 Ensembl | MGI Sequence Detail 4583 Not Applicable  
polypeptide ENSMUSP00000049920 Ensembl | MGI Sequence Detail 1425 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 16
    cDNA 16

    Microarray probesets 4
Other
Accession IDs
less
MGI:1922543, MGI:3032505
References
more
  • Summaries
    All 36
    Diseases 1
    Gene Ontology 9
    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
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
11/06/2018
MGI 6.13
The Jackson Laboratory