ENSMUSG00000039577


Mus musculus

Features
Gene ID: ENSMUSG00000039577
  
Biological name :Nphp4
  
Synonyms : Mus musculus nephronophthisis 4 (juvenile) homolog (human) (Nphp4), transcript variant 2, mRNA. / Nphp4 / P59240
  
Possible biological names infered from orthology : nephrocystin 4 / O75161
  
Species: Mus musculus
  
Chr. number: 4
Strand: 1
Band: E2
Gene start: 152476706
Gene end: 152563183
  
Corresponding Affymetrix probe sets: 10510767 (MoGene1.0st)   1431329_at (Mouse Genome 430 2.0 Array)   1434024_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000049920
Ensembl peptide - ENSMUSP00000080128
NCBI entrez gene - 260305     See in Manteia.
MGI - MGI:2384210
RefSeq - XM_011250257
RefSeq - NM_001355738
RefSeq - NM_001355739
RefSeq - NM_153424
RefSeq - XM_006538871
RefSeq - XM_006538872
RefSeq - XM_006538873
RefSeq - XM_006538875
RefSeq - XM_006538867
RefSeq - XM_006538868
RefSeq - XM_006538869
RefSeq - XM_006538870
RefSeq Peptide - NP_001342668
RefSeq Peptide - NP_700473
RefSeq Peptide - NP_001342667
swissprot - P59240
Ensembl - ENSMUSG00000039577
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 nphp4ENSDARG00000069014Danio rerio
 ENSGALG00000039646Gallus gallus
 ENSGALG00000000966Gallus gallus
 NPHP4ENSG00000131697Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR029775  Nephrocystin-4


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0030317 flagellated sperm motility IMP
 biological_processGO:0035845 photoreceptor cell outer segment organization IMP
 biological_processGO:0045494 photoreceptor cell maintenance IMP
 biological_processGO:0060041 retina development in camera-type eye IMP
 biological_processGO:0090090 negative regulation of canonical Wnt signaling pathway ISO
 biological_processGO:1903348 positive regulation of bicellular tight junction assembly IEA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005813 centrosome IEA
 cellular_componentGO:0005815 microtubule organizing center IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005911 cell-cell junction IEA
 cellular_componentGO:0005923 bicellular tight junction IEA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0032391 photoreceptor connecting cilium IDA
 cellular_componentGO:0035869 ciliary transition zone IDA
 cellular_componentGO:0036064 ciliary basal body IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0097470 ribbon synapse IDA
 cellular_componentGO:0097546 ciliary base IDA
 cellular_componentGO:0097730 non-motile cilium IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Signaling by Hippo
Anchoring of the basal body to the plasma membrane


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000242 impaired fertilization "defect or reduced ability in the process beginning with penetration of the secondary oocyte by the spermatozoon and completed by fusion of the male and female pronucei" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Lmnatm3Lgf/Lmnatm3Lgf
Genetic Background: involves: 129P2/OlaHsd

 MP:0001325 abnormal retina morphology "structural or developmental anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Lmnatm3Lgf/Lmnatm3Lgf
Genetic Background: involves: 129P2/OlaHsd

 MP:0001925 male infertility "inability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
Show

Allelic Composition: Lmnatm3Lgf/Lmnatm3Lgf
Genetic Background: involves: 129P2/OlaHsd

 MP:0002675 asthenozoospermia "loss or reduction of the mobility of the spermatozoa, frequently associated with infertility" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Lmnatm3Lgf/Lmnatm3Lgf
Genetic Background: involves: 129P2/OlaHsd

 MP:0002687 oligozoospermia "reduced concentration of spermatozoa " [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:57312]
Show

Allelic Composition: Lmnatm3Lgf/Lmnatm3Lgf
Genetic Background: involves: 129P2/OlaHsd

 MP:0003729 abnormal photoreceptor outer segments "malformation/anomalous structure of the photoreceptor layer which contains stacks of membranous discs that are rich in the visual pigment rhodopsin " [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Lmnatm3Lgf/Lmnatm3Lgf
Genetic Background: involves: 129P2/OlaHsd

 MP:0003731 abnormal outer nuclear layer morphology "malformation/anomalous structure of the retinal layer that contains the nuclei and cell bodies of rods and cones" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Lmnatm3Lgf/Lmnatm3Lgf
Genetic Background: involves: 129P2/OlaHsd

 MP:0003732 abnormal outer plexiform layer morphology "malformation/anomalous structure of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites)" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Lmnatm3Lgf/Lmnatm3Lgf
Genetic Background: involves: 129P2/OlaHsd

 MP:0005103 abnormal retinal pigmentation "anomalous coloring of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Lmnatm3Lgf/Lmnatm3Lgf
Genetic Background: involves: 129P2/OlaHsd

 MP:0006072 abnormal retinal apoptosis "increase or decrease in the number of cells in the retina undergoing programmed cell death" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:92622:]
Show

Allelic Composition: Lmnatm3Lgf/Lmnatm3Lgf
Genetic Background: involves: 129P2/OlaHsd

 MP:0008450 retinal photoreceptor degeneration "a retrogressive impairment of function or destruction of a cell specialized to detect and transduce light, including rods and cones of the retina" [MESH:A08.663.650.650, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Lmnatm3Lgf/Lmnatm3Lgf
Genetic Background: involves: 129P2/OlaHsd

 MP:0008511 thin retinal inner nuclear layer "reduced thickness of the retinal layer which contains the cell bodies of bipolar, horizontal, and amacrine cells" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Lmnatm3Lgf/Lmnatm3Lgf
Genetic Background: involves: 129P2/OlaHsd

 MP:0008515 thin retinal outer nuclear layer "reduced thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Lmnatm3Lgf/Lmnatm3Lgf
Genetic Background: involves: 129P2/OlaHsd

 MP:0008519 thin retinal outer plexiform layer "reduced thickness of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites)" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Lmnatm3Lgf/Lmnatm3Lgf
Genetic Background: involves: 129P2/OlaHsd

 MP:0008587 short photoreceptor outer segment "decreased length of the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Lmnatm3Lgf/Lmnatm3Lgf
Genetic Background: involves: 129P2/OlaHsd

 MP:0010097 abnormal retinal blood vessel morphology "any structural anomaly of the blood vessels supplying the retina" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Lmnatm3Lgf/Lmnatm3Lgf
Genetic Background: involves: 129P2/OlaHsd

 MP:0012671 retinal spots "the appearance of roundish lesions on the retina, frequently white, and may be due to inflammation, degeneration, vasculitis, exudates, edema or mineral deposits" [MGI:csmith]
Show

Allelic Composition: Cdh23v-10J/Cdh23v-10J
Genetic Background: involves: BALB/cByJ * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000021959 Lats2 / Q7TSJ6 / Serine/threonine-protein kinase LATS2 / Q9NRM7* / large tumor suppressor kinase 2*  / reaction / complex
 ENSMUSG00000040021 Lats1 / Q8BYR2 / Serine/threonine-protein kinase LATS1 / O95835* / large tumor suppressor kinase 1*  / reaction / complex
 ENSMUSG00000027378 Nphp1 / nephronophthisis 1 (juvenile) homolog (human) / O15259* / nephrocystin 1*  / complex
 ENSMUSG00000004771 P62492 / Rab11a / RAB11A, member RAS oncogene family / P62491*  / complex
 ENSMUSG00000003037 Rab8a / P55258 / RAB8A, member RAS oncogene family / P61006*  / reaction
 ENSMUSG00000033282 Q8CG73 / Rpgrip1l / Rpgrip1-like / Q68CZ1*  / complex






 

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