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Nphp4
Gene Detail
Symbol

Name
ID
Nphp4
nephronophthisis 4 (juvenile) homolog (human)
MGI:2384210
Synonyms
4930564O18Rik, nmf192
Feature Type
protein coding gene
Genetic Map
Chromosome 4
83.14 cM, cytoband E2
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr4:152476706-152563049 bp, + strand
From VEGA annotation of GRCm38

  86344 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:9024  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

HCOP human homology predictions: NPHP4
Gene Tree: Nphp4

Human
homologs
NPHP4, nephronophthisis 4
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 261734
neXtProt AC: NX_O75161

Human Synonyms: POC10, SLSN4

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

Disease Associations: (2) Diseases Associated with Human NPHP4

Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Chemically induced (ENU)(1) Gene trapped(1) Targeted(3)
Genomic Mutations involving Nphp4 (3)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mutant mice have a mottled retina with photoreceptor degeneration and male infertility associated with oligozoospermia and asthenozoospermia.
 
Interactions
Nphp4 interacts with 80 markers (Mir15a, Mir16-1, Mir26a-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (22 annotations)
Process negative regulation of canonical Wnt signaling pathway, photoreceptor cell maintenance, ...
Component bicellular tight junction, cell-cell junction, ...
Function protein binding
External Resources: FuncBase
Expression
cDNA source data(15)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase nphp4    NEW 
Molecular
reagents
All nucleic(15) cDNA(15)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000010703 (Evidence)
Ensembl Gene Model ENSMUSG00000039577 (Evidence)
Entrez Gene 260305 (Evidence)
UniGene 302496
DFCI TC1582896, TC1589914, TC1592532
DoTS DT.91293428, DT.91376522, DT.91438879, DT.99855255
NIA Mouse Gene Index U005173
Consensus CDS Project CCDS38985.1
International Mouse Phenotyping Consortium Status Nphp4
Sequences
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 sequences
All sequences(63) RefSeq(22) UniProt(5)
Polymorphisms
SNPs within 2kb(821 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR029775 Nephrocystin-4
Protein Ontology PR:000011364 nephrocystin-4
References
(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:173396 Sang L, et al., Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell. 2011 May 13;145(4):513-28
All references(34)
Other
accession IDs
MGI:1922543, MGI:3032505

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
08/25/2015
MGI 6.0
The Jackson Laboratory