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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

Gene Tree: Nphp4

Human
homologs
Human Homolog NPHP4, nephronophthisis 4
NCBI Gene ID 261734
neXtProt AC  NX_O75161
Human Synonyms  POC10, SLSN4
Human Chr (Location)  1p36; chr1:5862810-5992558 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human NPHP4
Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Chemically induced (ENU)(1) Gene trapped(1) Targeted(2)
Genomic Mutations involving Nphp4 (2)
Incidental mutations (data from Mutagenetix , APF )
 
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: (16 annotations)
Process photoreceptor cell maintenance, photoreceptor cell outer segment organization, ...
Component cell-cell junction, cell junction, ...
Function protein binding
External Resources: FuncBase
Expression
cDNA source data(15)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(15) cDNA(15)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000010703 (Evidence)
Ensembl Gene ModelENSMUSG00000039577 (Evidence)
Entrez Gene260305 (Evidence)
UniGene302496
DFCITC1582896, TC1589914, TC1592532
DoTSDT.91293428, DT.91376522, DT.91438879, DT.99855255
NIA Mouse Gene IndexU005173
Consensus CDS ProjectCCDS38985.1
International Mouse Knockout Project StatusNphp4
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(61) RefSeq(20) UniProt(5)
Polymorphisms SNPs within 2kb(821 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
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(32)
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
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last database update
08/19/2014
MGI 5.19
The Jackson Laboratory