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

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; chr1:5922870-6052533 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human NPHP4

Alleles and phenotypes

All alleles(2) : Gene trapped(1) Chemically induced(1)
 

Mutant mice have a mottled retina with photoreceptor degeneration and male infertility associated with oligozoospermia and asthenozoospermia.

 

Gene Ontology (GO) classifications

All GO classifications: (10 annotations)

Process	retina development in camera-type eye
Component	cell-cell junction, cell junction, ...
Function	protein binding

External Resources: FuncBase

Expression

cDNA source data(15)
External Resources: Allen Institute   GEO   ArrayExpress

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 Knockout Project Status	Nphp4

Sequences

Length	Strain/Species
genomic	OTTMUSG00000010703	VEGA Gene Model | MGI Sequence Detail	86344	C57BL/6J
transcript	OTTMUST00000024971	VEGA | MGI Sequence Detail	4583	Not Applicable
polypeptide	OTTMUSP00000011441	VEGA | MGI Sequence Detail	1425	Not Applicable

All sequences(43) RefSeq(2) UniProt(5)

Polymorphisms

SNPs(553 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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