Nphp4 (nephrocystin 4) - Rat Genome Database

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Gene: Nphp4 (nephrocystin 4) Rattus norvegicus
Analyze
Symbol: Nphp4
Name: nephrocystin 4
RGD ID: 1560172
Description: Predicted to be involved in negative regulation of canonical Wnt signaling pathway; positive regulation of bicellular tight junction assembly; and protein localization to ciliary transition zone. Predicted to act upstream of or within several processes, including flagellated sperm motility; photoreceptor cell maintenance; and photoreceptor cell outer segment organization. Located in ciliary basal body. Human ortholog(s) of this gene implicated in Joubert syndrome 4; Senior-Loken syndrome; congenital heart disease; nephronophthisis; and nephronophthisis 4. Orthologous to human NPHP4 (nephrocystin 4); INTERACTS WITH 1,2-dimethylhydrazine; 2,3,7,8-tetrachlorodibenzodioxine; 6-propyl-2-thiouracil.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: LOC313749; MGC125230; nephrocystin-4; nephronophthisis 4; nephronophthisis 4 (juvenile) homolog; nephronophthisis 4 (juvenile) homolog (human); similar to mKIAA0673 protein
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCr8 - GRCr8 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85168,270,522 - 168,356,393 (+)NCBIGRCr8
mRatBN7.25162,986,157 - 163,073,708 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5162,988,370 - 163,073,706 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5165,691,473 - 165,776,590 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05167,513,074 - 167,598,197 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05167,475,281 - 167,560,405 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05169,647,581 - 169,744,662 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5169,659,188 - 169,744,660 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05173,201,362 - 173,298,422 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45169,711,038 - 169,797,486 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera5161,218,067 - 161,302,859 (+)NCBICelera
Cytogenetic Map5q36NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model



  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Nphp4Ratcongenital heart disease  ISORGD:135111811537354DNA:missense mutations: :multipleRGD 
Nphp4RatJoubert syndrome 4  ISORGD:135111811068164DNA:mutations:exon, intron:multipleRGD 
Nphp4Ratnephronophthisis  ISORGD:135111811065524DNA:deletion, missense mutations, splice-site mutation:cds, intron:multipleRGD 
Nphp4Ratnephronophthisis 4  ISORGD:135111811537355DNA:missense mutations, nonsense mutations, splice-site mutations:exon, intron:multipleRGD 
Nphp4Ratnephronophthisis 4  ISORGD:135111811537341DNA:nonsense mutations, duplications:exon:multipleRGD 
Nphp4Ratnephronophthisis 4  ISORGD:135111811537342DNA:nonsense mutation: :3272del (human)RGD 
1 to 20 of 29 rows
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Original Reference(s)
Nphp4Ratatypical hemolytic-uremic syndrome  ISORGD:13511188554872ClinVar Annotator: match by term: Atypical hemolytic-uremic syndromeClinVarPMID:25741868|PMID:28492532
Nphp4RatBardet-Biedl syndrome  ISORGD:13511188554872ClinVar Annotator: match by term: Bardet-Biedl syndromeClinVarPMID:15776426|PMID:25741868|PMID:28492532|PMID:37431782
Nphp4RatCAKUT  ISORGD:13511188554872ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tractClinVarPMID:28492532|PMID:30143558
Nphp4Ratcholestasis  ISORGD:13511188554872ClinVar Annotator: match by term: CholestasisClinVarPMID:15776426|PMID:22550138|PMID:25741868|PMID:28492532|PMID:28700940
Nphp4Ratchromosome 1p36 deletion syndrome  ISORGD:13511188554872ClinVar Annotator: match by term: Chromosome 1p36 deletion syndromeClinVar 
Nphp4Ratfocal segmental glomerulosclerosis  ISORGD:13511188554872ClinVar Annotator: match by term: Focal segmental glomerulosclerosisClinVarPMID:25741868|PMID:28492532
Nphp4Ratfundus dystrophy  ISORGD:13511188554872ClinVar Annotator: match by term: Retinal dystrophyClinVarPMID:12205563|PMID:15776426|PMID:16199547|PMID:21068128|PMID:21546380|PMID:23559409|PMID:25741868|PMID:27004616|PMID:27124789|PMID:28492532|PMID:30120289|PMID:30586318|PMID:31589614|PMID:31964843|PMID:34216551|PMID:34426522
Nphp4Ratgenetic disease  ISORGD:13511188554872ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic more ...ClinVarPMID:25741868|PMID:28492532|PMID:36090483
Nphp4Ratinfertility  ISORGD:13511188554872ClinVar Annotator: match by term: InfertilityClinVarPMID:11920287|PMID:12205563|PMID:12244321|PMID:23559409|PMID:23574405|PMID:25558065|PMID:25741868|PMID:28492532
Nphp4Ratkidney disease  ISORGD:13511188554872ClinVar Annotator: match by term: renal diseaseClinVarPMID:12205563|PMID:15776426|PMID:16199547|PMID:21546380|PMID:22550138|PMID:22773737|PMID:23217326|PMID:23559409|PMID:25741868|PMID:28492532|PMID:28700940|PMID:29127258
Nphp4RatLeber congenital amaurosis  ISORGD:13511188554872ClinVar Annotator: match by term: Leber congenital amaurosisClinVarPMID:25445212|PMID:25741868|PMID:26920127|PMID:28492532|PMID:36090483
Nphp4RatLynch syndrome 1  ISORGD:13511188554872ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1ClinVarPMID:25741868|PMID:28492532
Nphp4Ratnephronophthisis  ISORGD:13511188554872ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8ClinVarPMID:11920287|PMID:12205563|PMID:12244321|PMID:1248184|PMID:15776426|PMID:16199547|PMID:16339905|PMID:17558407|PMID:17576681|PMID:17855640|PMID:17954299|PMID:18076122|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23188109|PMID:23217326|PMID:23559409|PMID:24033266|PMID:25445212|PMID:25472526|PMID:25558065|PMID:25741868|PMID:26346198|PMID:26489029|PMID:26920127|PMID:27004616|PMID:27491411|PMID:28492532|PMID:28700940|PMID:29127258|PMID:30143558|PMID:31810733|PMID:32865313|PMID:34295353|PMID:6837691|PMID:9536098
Nphp4Ratnephronophthisis  ISORGD:13511188554872ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8ClinVarPMID:11920287|PMID:12205563|PMID:12244321|PMID:1248184|PMID:15776426|PMID:16199547|PMID:16339905|PMID:17558407|PMID:17576681|PMID:17855640|PMID:17954299|PMID:18076122|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23188109|PMID:23217326|PMID:23559409|PMID:24033266|PMID:24154662|PMID:25445212|PMID:25472526|PMID:25558065|PMID:25741868|PMID:25741916|PMID:26346198|PMID:26489029|PMID:26920127|PMID:27004616|PMID:27491411|PMID:28492532|PMID:28700940|PMID:29127258|PMID:30143558|PMID:31810733|PMID:32865313|PMID:34295353|PMID:34850017|PMID:36090483|PMID:6837691|PMID:9536098
Nphp4Ratnephronophthisis  ISORGD:13511188554872ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8ClinVarPMID:11920287|PMID:12205563|PMID:12244321|PMID:1248184|PMID:15776426|PMID:16199547|PMID:16339905|PMID:17558407|PMID:17576681|PMID:17855640|PMID:17954299|PMID:18076122|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23188109|PMID:23217326|PMID:23559409|PMID:24033266|PMID:25445212|PMID:25472526|PMID:25558065|PMID:25741868|PMID:26346198|PMID:26920127|PMID:27004616|PMID:27491411|PMID:28492532|PMID:29127258|PMID:30143558|PMID:6837691|PMID:9536098
Nphp4Ratnephronophthisis  ISORGD:13511188554872ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8ClinVarPMID:11920287|PMID:12205563|PMID:12244321|PMID:1248184|PMID:15776426|PMID:16199547|PMID:16339905|PMID:17558407|PMID:17576681|PMID:17855640|PMID:17954299|PMID:18076122|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23188109|PMID:23217326|PMID:23559409|PMID:23574405|PMID:24033266|PMID:24154662|PMID:25445212|PMID:25472526|PMID:25558065|PMID:25640679|PMID:25741868|PMID:26346198|PMID:26489029|PMID:26920127|PMID:27004616|PMID:27124789|PMID:27491411|PMID:28492532|PMID:28700940|PMID:29127258|PMID:30120289|PMID:30143558|PMID:30586318|PMID:31589614|PMID:31810733|PMID:31964843|PMID:32865313|PMID:33946315|PMID:34216551|PMID:34295353|PMID:34426522|PMID:34850017|PMID:36090483|PMID:36474027|PMID:36938085|PMID:36990420|PMID:37431782|PMID:6837691|PMID:9536098
Nphp4Ratnephronophthisis  ISORGD:13511188554872ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8ClinVarPMID:11920287|PMID:12205563|PMID:12244321|PMID:1248184|PMID:15776426|PMID:16199547|PMID:16339905|PMID:17558407|PMID:17576681|PMID:17855640|PMID:17954299|PMID:18076122|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23188109|PMID:23217326|PMID:23559409|PMID:24033266|PMID:24154662|PMID:25445212|PMID:25472526|PMID:25558065|PMID:25741868|PMID:26346198|PMID:26489029|PMID:26920127|PMID:27004616|PMID:27491411|PMID:28492532|PMID:28700940|PMID:29127258|PMID:30143558|PMID:31810733|PMID:32865313|PMID:34295353|PMID:34850017|PMID:36090483|PMID:6837691|PMID:9536098
Nphp4Ratnephronophthisis  ISORGD:13511188554872ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8ClinVarPMID:11920287|PMID:12205563|PMID:12244321|PMID:1248184|PMID:15776426|PMID:16199547|PMID:16339905|PMID:17558407|PMID:17576681|PMID:17855640|PMID:17954299|PMID:18076122|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23188109|PMID:23217326|PMID:23559409|PMID:24033266|PMID:24154662|PMID:25445212|PMID:25472526|PMID:25558065|PMID:25741868|PMID:26346198|PMID:26489029|PMID:26920127|PMID:27004616|PMID:27491411|PMID:27854218|PMID:28492532|PMID:28700940|PMID:29127258|PMID:30143558|PMID:31810733|PMID:32865313|PMID:34295353|PMID:34850017|PMID:36090483|PMID:6837691|PMID:9536098
Nphp4Ratnephronophthisis 1  ISORGD:13511188554872ClinVar Annotator: match by term: Juvenile Nephronophthisis | ClinVar Annotator: match by term: juvenile nephronophthisisClinVarPMID:11920287|PMID:12205563|PMID:12244321|PMID:15776426|PMID:16199547|PMID:17576681|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23217326|PMID:23559409|PMID:23574405|PMID:24033266|PMID:25558065|PMID:25741868|PMID:26346198|PMID:27004616|PMID:27124789|PMID:28492532|PMID:28700940|PMID:29127258|PMID:30120289|PMID:30143558|PMID:30586318|PMID:31589614|PMID:31964843|PMID:32865313|PMID:34216551|PMID:34426522|PMID:36090483|PMID:36990420|PMID:37431782|PMID:9536098
Nphp4Ratnephronophthisis 1  ISORGD:13511188554872ClinVar Annotator: match by term: Nephronophthisis familial juvenile | ClinVar Annotator: match by term: juvenile more ...ClinVarPMID:11920287|PMID:12205563|PMID:12244321|PMID:15776426|PMID:17576681|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23217326|PMID:23559409|PMID:23574405|PMID:24033266|PMID:25558065|PMID:25741868|PMID:26346198|PMID:27004616|PMID:27124789|PMID:28492532|PMID:28700940|PMID:29127258|PMID:30120289|PMID:30143558|PMID:30586318|PMID:31589614|PMID:31964843|PMID:32865313|PMID:34216551|PMID:34426522|PMID:9536098
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Object Symbol
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Original Reference(s)
Nphp4Ratnephronophthisis 4  ISORGD:135111811554173CTD Direct Evidence: marker/mechanismCTD 
Nphp4RatSenior-Loken Syndrome 4  ISORGD:135111811554173CTD Direct Evidence: marker/mechanismCTD 
Object Symbol
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Original Reference(s)
Nphp4Ratnephronophthisis 4  ISSRGD:162125313592920OMIM:606966MouseDO 
Object Symbol
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Original Reference(s)
Nphp4Ratnephronophthisis 4  ISORGD:13511187240710 OMIM 
Nphp4RatSenior-Loken Syndrome 4  ISORGD:13511187240710 OMIM 

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Original Reference(s)
Nphp4Rat1,2-dimethylhydrazine multiple interactionsEXP 6480464[APC protein affects the susceptibility to 1,2-Dimethylhydrazine] which results in increased expression of NPHP4 mRNACTDPMID:27840820
Nphp4Rat1,2-dimethylhydrazine increases expressionISORGD:162125364804641,2-Dimethylhydrazine results in increased expression of NPHP4 mRNACTDPMID:22206623
Nphp4Rat17beta-estradiol decreases expressionISORGD:16212536480464Estradiol results in decreased expression of NPHP4 mRNACTDPMID:19484750
Nphp4Rat2,3,7,8-tetrachlorodibenzodioxine multiple interactionsISORGD:16212536480464Tetrachlorodibenzodioxin promotes the reaction [AHR protein binds to NPHP4 promoter]CTDPMID:19654925
Nphp4Rat2,3,7,8-tetrachlorodibenzodioxine increases expressionEXP 6480464Tetrachlorodibenzodioxin results in increased expression of NPHP4 mRNACTDPMID:33387578
Nphp4Rat4,4'-sulfonyldiphenol increases methylationISORGD:16212536480464bisphenol S results in increased methylation of NPHP4 exonCTDPMID:33297965
Nphp4Rat6-propyl-2-thiouracil decreases expressionEXP 6480464Propylthiouracil results in decreased expression of NPHP4 mRNACTDPMID:24780913
Nphp4Ratacrylamide increases expressionISORGD:16212536480464Acrylamide results in increased expression of NPHP4 mRNACTDPMID:30807115
Nphp4Ratacrylamide decreases expressionISORGD:13511186480464Acrylamide results in decreased expression of NPHP4 mRNACTDPMID:32763439
Nphp4Rataflatoxin B1 decreases methylationISORGD:13511186480464Aflatoxin B1 results in decreased methylation of NPHP4 intronCTDPMID:30157460
Nphp4RatAflatoxin B2 alpha increases methylationISORGD:13511186480464aflatoxin B2 results in increased methylation of NPHP4 exon; aflatoxin B2 results in increased methylation more ...CTDPMID:30157460
Nphp4Ratall-trans-retinoic acid increases expressionISORGD:16212536480464Tretinoin results in increased expression of NPHP4 mRNACTDPMID:16788091
Nphp4Ratall-trans-retinoic acid decreases expressionISORGD:13511186480464Tretinoin results in decreased expression of NPHP4 mRNACTDPMID:33167477
Nphp4Ratarsane affects methylationISORGD:13511186480464Arsenic affects the methylation of NPHP4 geneCTDPMID:25304211
Nphp4Ratarsenic atom affects methylationISORGD:13511186480464Arsenic affects the methylation of NPHP4 geneCTDPMID:25304211
Nphp4Ratarsenous acid multiple interactionsISORGD:13511186480464Arsenic Trioxide inhibits the reaction [4-aminophenylarsenoxide binds to NPHP4 protein]CTDPMID:26598702
Nphp4Ratatrazine affects methylationEXP 6480464Atrazine affects the methylation of NPHP4 geneCTDPMID:28931070|PMID:35440735
Nphp4Ratbenzo[a]pyrene decreases expressionISORGD:16212536480464Benzo(a)pyrene results in decreased expression of NPHP4 mRNACTDPMID:22228805
Nphp4Ratbenzo[a]pyrene affects methylationISORGD:13511186480464Benzo(a)pyrene affects the methylation of NPHP4 intronCTDPMID:30157460
Nphp4Ratbenzo[e]pyrene increases methylationISORGD:13511186480464benzo(e)pyrene results in increased methylation of NPHP4 exonCTDPMID:30157460

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Biological Process
1 to 16 of 16 rows

  
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Original Reference(s)
Nphp4Ratbiological_process  ND 159840709/2016: no relevant rat dataRGD 
Nphp4Ratflagellated sperm motility acts_upstream_of_or_withinIEAUniProtKB:P59240|ensembl:ENSMUSP000000801281600115GO_REF:0000107EnsemblGO_REF:0000107
Nphp4Ratflagellated sperm motility acts_upstream_of_or_withinISORGD:16212531624291MGI:3032515 PMID:21078623RGDPMID:21078623
Nphp4Ratnegative regulation of canonical Wnt signaling pathway involved_inISORGD:13511181624291 PMID:22654112RGDPMID:22654112
Nphp4Ratnegative regulation of canonical Wnt signaling pathway involved_inIBAPANTHER:PTN001287074|UniProtKB:A0A8M9PS59|UniProtKB:O751611600115GO_REF:0000033GO_CentralGO_REF:0000033
Nphp4Ratnegative regulation of canonical Wnt signaling pathway involved_inIEAInterPro:IPR0297751600115GO_REF:0000002InterProGO_REF:0000002
Nphp4Ratnegative regulation of canonical Wnt signaling pathway involved_inIEAUniProtKB:O75161|ensembl:ENSP000003673981600115GO_REF:0000107EnsemblGO_REF:0000107
Nphp4Ratphotoreceptor cell maintenance acts_upstream_of_or_withinISORGD:16212531624291MGI:3032515 PMID:21078623RGDPMID:21078623
Nphp4Ratphotoreceptor cell maintenance acts_upstream_of_or_withinIEAUniProtKB:P59240|ensembl:ENSMUSP000000801281600115GO_REF:0000107EnsemblGO_REF:0000107
Nphp4Ratphotoreceptor cell outer segment organization acts_upstream_of_or_withinIEAUniProtKB:P59240|ensembl:ENSMUSP000000801281600115GO_REF:0000107EnsemblGO_REF:0000107
Nphp4Ratphotoreceptor cell outer segment organization acts_upstream_of_or_withinISORGD:16212531624291MGI:3032515 PMID:21078623RGDPMID:21078623
Nphp4Ratpositive regulation of bicellular tight junction assembly involved_inISORGD:13511181624291 PMID:19755384RGDPMID:19755384
Nphp4Ratpositive regulation of bicellular tight junction assembly involved_inIEAUniProtKB:O75161|ensembl:ENSP000003673981600115GO_REF:0000107EnsemblGO_REF:0000107
Nphp4Ratprotein localization to ciliary transition zone involved_inIBAPANTHER:PTN001287074|WB:WBGene000112611600115GO_REF:0000033GO_CentralGO_REF:0000033
Nphp4Ratretina development in camera-type eye acts_upstream_of_or_withinISORGD:16212531624291 PMID:21052544RGDPMID:21052544
Nphp4Ratretina development in camera-type eye acts_upstream_of_or_withinIEAUniProtKB:P59240|ensembl:ENSMUSP000000801281600115GO_REF:0000107EnsemblGO_REF:0000107
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Cellular Component
1 to 20 of 31 rows

  
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Nphp4Ratcell-cell junction located_inISORGD:13511181624291 PMID:21565611RGDPMID:21565611
Nphp4Ratcell-cell junction located_inIEAUniProtKB:O75161|ensembl:ENSP000003673981600115GO_REF:0000107EnsemblGO_REF:0000107
Nphp4Ratcentriole located_inISORGD:16212531624291 PMID:29038301RGDPMID:29038301
Nphp4Ratcentriole located_inIEAUniProtKB:P59240|ensembl:ENSMUSP000000801281600115GO_REF:0000107EnsemblGO_REF:0000107
Nphp4Ratcentrosome located_inISORGD:13511181624291 PMID:21399614RGDPMID:21399614
Nphp4Ratcentrosome located_inIEAUniProtKB:O75161|ensembl:ENSP000003673981600115GO_REF:0000107EnsemblGO_REF:0000107
Nphp4Ratciliary basal body  IDA 11537356 RGD 
Nphp4Ratciliary basal body is_active_inIBAPANTHER:PTN001287074|RGD:1560172|WB:WBGene000112611600115GO_REF:0000033GO_CentralGO_REF:0000033
Nphp4Ratciliary base located_inIEAUniProtKB:P59240|ensembl:ENSMUSP000000801281600115GO_REF:0000107EnsemblGO_REF:0000107
Nphp4Ratciliary base is_active_inIBAMGI:2384210|PANTHER:PTN0012870741600115GO_REF:0000033GO_CentralGO_REF:0000033
Nphp4Ratciliary base located_inISORGD:16212531624291 PMID:20169535RGDPMID:20169535
Nphp4Ratciliary transition zone is_active_inIBAMGI:2384210|PANTHER:PTN001287074|WB:WBGene000112611600115GO_REF:0000033GO_CentralGO_REF:0000033
Nphp4Ratciliary transition zone located_inIEAUniProtKB:P59240|ensembl:ENSMUSP000000801281600115GO_REF:0000107EnsemblGO_REF:0000107
Nphp4Ratciliary transition zone located_inISORGD:16212531624291 PMID:20169535RGDPMID:20169535
Nphp4Ratcytoplasm located_inISORGD:16212531624291 PMID:21565611RGDPMID:21565611
Nphp4Ratcytoplasm part_ofIEAUniProtKB:P59240|ensembl:ENSMUSP000000801281600115GO_REF:0000107EnsemblGO_REF:0000107
Nphp4Ratcytoskeleton located_inIEAInterPro:IPR0297751600115GO_REF:0000002InterProGO_REF:0000002
Nphp4Ratcytosol located_inISORGD:1351118|UniProtKB:O75161-1|UniProtKB:O75161-21624291 RGDGO_REF:0000052
Nphp4Ratcytosol located_inIEAUniProtKB:O75161|ensembl:ENSP000003673981600115GO_REF:0000107EnsemblGO_REF:0000107
Nphp4Ratnon-motile cilium is_active_inIBAMGI:2384210|PANTHER:PTN001287074|WB:WBGene000112611600115GO_REF:0000033GO_CentralGO_REF:0000033
1 to 20 of 31 rows

Molecular Function

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Nphp4Ratprotein binding enablesISORGD:13511181624291UniProtKB:O15259|UniProtKB:Q14289|UniProtKB:Q15051|UniProtKB:Q68CZ1|UniProtKB:Q68CZ1-2|UniProtKB:Q6IE81|UniProtKB:Q92834|UniProtKB:Q96KN7|UniProtKB:Q9ULD6|UniProtKB:Q9UPV0|UniProtKB:Q9Y265 PMID:12244321, PMID:15661758, PMID:17558407, PMID:20664800, PMID:21224891, PMID:21357692, PMID:21565611, PMID:22654112, PMID:22863007, PMID:26638075, PMID:26644512, PMID:27173435, PMID:29959317, more ...RGDPMID:12244321|PMID:15661758|PMID:17558407|PMID:20664800|PMID:21224891|PMID:21357692|PMID:21565611|PMID:22654112|PMID:22863007|PMID:26638075|PMID:26644512|PMID:27173435|PMID:29959317|PMID:33961781
Nphp4Ratprotein binding enablesISORGD:16212531624291MGI:2144877|PR:Q9R0X5|UniProtKB:Q8CG73|UniProtKB:Q9QY53 PMID:20664800, PMID:21565611, PMID:29899041RGDPMID:20664800|PMID:21565611|PMID:29899041
Nphp4Ratprotein binding enablesISORGD:1351118,UniProtKB:O75161-11624291UniProtKB:Q96KN7-1 PMID:16339905RGDPMID:16339905


1 to 13 of 13 rows
#
Reference Title
Reference Citation
1. Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Arts HH, etal., Nat Genet. 2007 Jul;39(7):882-8. Epub 2007 Jun 10.
2. NPHP4 variants are associated with pleiotropic heart malformations. French VM, etal., Circ Res. 2012 Jun 8;110(12):1564-74. doi: 10.1161/CIRCRESAHA.112.269795. Epub 2012 May 1.
3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
4. Clinical and histological presentation of 3 siblings with mutations in the NPHP4 gene. Hoefele J, etal., Am J Kidney Dis. 2004 Feb;43(2):358-64.
5. Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis. Hoefele J, etal., Hum Mutat. 2005 Apr;25(4):411.
6. Evidence of oligogenic inheritance in nephronophthisis. Hoefele J, etal., J Am Soc Nephrol. 2007 Oct;18(10):2789-95. Epub 2007 Sep 12.
7. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
8. A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Otto E, etal., Am J Hum Genet. 2002 Nov;71(5):1161-7. Epub 2002 Aug 29.
9. Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing. Otto EA, etal., Hum Mutat. 2008 Mar;29(3):418-26.
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. Comprehensive gene review and curation RGD comprehensive gene curation
13. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
1 to 13 of 13 rows
PMID:19755384   PMID:20169535   PMID:21052544   PMID:21078623   PMID:21399614   PMID:21565611   PMID:22654112   PMID:29899041  



Nphp4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85168,270,522 - 168,356,393 (+)NCBIGRCr8
mRatBN7.25162,986,157 - 163,073,708 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5162,988,370 - 163,073,706 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5165,691,473 - 165,776,590 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05167,513,074 - 167,598,197 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05167,475,281 - 167,560,405 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05169,647,581 - 169,744,662 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5169,659,188 - 169,744,660 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05173,201,362 - 173,298,422 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45169,711,038 - 169,797,486 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera5161,218,067 - 161,302,859 (+)NCBICelera
Cytogenetic Map5q36NCBI
NPHP4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3815,862,811 - 5,992,425 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl15,862,811 - 5,992,473 (-)EnsemblGRCh38hg38GRCh38
GRCh3715,922,871 - 6,052,485 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3615,845,457 - 5,975,118 (-)NCBINCBI36Build 36hg18NCBI36
Build 3415,857,135 - 5,986,797NCBI
Celera15,037,702 - 5,167,377 (-)NCBICelera
Cytogenetic Map1p36.31NCBI
HuRef15,071,502 - 5,201,940 (-)NCBIHuRef
CHM1_115,911,568 - 6,041,216 (-)NCBICHM1_1
T2T-CHM13v2.015,387,041 - 5,518,608 (-)NCBIT2T-CHM13v2.0
Nphp4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394152,561,163 - 152,647,641 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4152,561,163 - 152,647,640 (+)EnsemblGRCm39 Ensembl
GRCm384152,476,706 - 152,563,184 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4152,476,706 - 152,563,183 (+)EnsemblGRCm38mm10GRCm38
MGSCv374151,852,251 - 151,937,293 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364151,321,942 - 151,406,934 (+)NCBIMGSCv36mm8
Celera4154,764,281 - 154,849,333 (+)NCBICelera
Cytogenetic Map4E2NCBI
cM Map483.14NCBI
Nphp4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554866,448,442 - 6,547,488 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554866,442,058 - 6,547,451 (+)NCBIChiLan1.0ChiLan1.0
NPHP4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21222,234,457 - 222,370,369 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11220,876,170 - 221,012,339 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v014,620,593 - 4,756,363 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.115,878,739 - 6,012,869 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl15,878,739 - 6,012,864 (-)Ensemblpanpan1.1panPan2
NPHP4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1559,819,236 - 59,936,220 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl559,814,274 - 59,929,386 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha559,830,501 - 59,946,241 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0560,022,493 - 60,152,631 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl560,035,558 - 60,152,688 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1560,035,853 - 60,151,600 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0559,902,253 - 60,018,001 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0560,303,659 - 60,419,425 (-)NCBIUU_Cfam_GSD_1.0
Nphp4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505830,316,914 - 30,418,643 (-)NCBIHiC_Itri_2
SpeTri2.0NW_004936623802,152 - 904,198 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NPHP4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl666,815,281 - 66,928,146 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1666,815,282 - 66,928,245 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2661,821,151 - 61,829,018 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NPHP4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120125,739,075 - 125,878,088 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl20125,744,295 - 125,874,482 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605429,894,007 - 30,031,596 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nphp4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248185,327,038 - 5,432,901 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248185,325,946 - 5,432,290 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

.

.
Variants in Nphp4
397 total Variants

Predicted Target Of
Summary Value
Count of predictions:54
Count of miRNA genes:46
Interacting mature miRNAs:54
Transcripts:ENSRNOT00000066623
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


1 to 10 of 19 rows
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
10053720Scort26Serum corticosterone level QTL 262.060.0147blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)5124965598166875058Rat
631272Lanf1Left ventricular atrial natriuretic factor QTL 112heart left ventricle natriuretic peptide A amount (VT:0010596)heart left ventricle natriuretic peptide A level (CMO:0002165)5151113452166875058Rat
1576314Eutr1Estrogen induced uterine response QTL 1uterus integrity trait (VT:0010575)pyometritis severity score (CMO:0002009)52138965166875058Rat
631562Apr2Acute phase response QTL 23.7blood murinoglobulin 1 amount (VT:0010597)plasma murinoglobulin 1 level (CMO:0001931)5135927956166875058Rat
634349Bp139Blood pressure QTL 1390.001arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)5128924607166875058Rat
61444Strs2Sensitivity to stroke QTL 24.7cerebrum integrity trait (VT:0010549)post-insult time to onset of cerebrovascular lesion (CMO:0002343)5135929696166875058Rat
724525Bp147Blood pressure QTL 1474.30.0001arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)5126424772166875058Rat
1549904Neuinf1Neuroinflammation QTL 130nervous system integrity trait (VT:0010566)blood T lymphocyte count (CMO:0000110)5154828214166875058Rat
738018Anxrr4Anxiety related response QTL 45.1exploratory behavior trait (VT:0010471)percentage of entries into a discrete space in an experimental apparatus (CMO:0000961)5130130159166875058Rat
8552908Pigfal4Plasma insulin-like growth factor 1 level QTL 46.6blood insulin-like growth factor amount (VT:0010479)plasma insulin-like growth factor 1 level (CMO:0001299)5128506074166875058Rat

1 to 10 of 19 rows
D5Rat244  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.25163,026,006 - 163,026,191 (+)MAPPERmRatBN7.2
Rnor_6.05169,696,938 - 169,697,122NCBIRnor6.0
Rnor_5.05173,250,700 - 173,250,884UniSTSRnor5.0
RGSC_v3.45169,748,820 - 169,749,004UniSTSRGSC3.4
Celera5161,255,576 - 161,255,760UniSTS
SHRSP x BN Map597.9299UniSTS
SHRSP x BN Map597.9299RGD
Cytogenetic Map5q36UniSTS
RH94672  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.25162,987,799 - 162,987,983 (+)MAPPERmRatBN7.2
Rnor_6.05169,658,618 - 169,658,801NCBIRnor6.0
Rnor_5.05173,212,381 - 173,212,564UniSTSRnor5.0
RGSC_v3.45169,710,468 - 169,710,651UniSTSRGSC3.4
Celera5161,217,497 - 161,217,680UniSTS
RH 3.4 Map51140.7UniSTS
Cytogenetic Map5q36UniSTS




alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
9 11 49 113 91 90 59 25 59 6 218 97 93 45 60 31


1 to 17 of 17 rows
RefSeq Transcripts NM_001037650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001436895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001436896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006239464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006239465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006239467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017593432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017593433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017593434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017593435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017593436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_039110104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_039110105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC097926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH473968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JAXUCZ010000005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
1 to 17 of 17 rows

Ensembl Acc Id: ENSRNOT00000066623   ⟹   ENSRNOP00000063188
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl5162,988,370 - 163,073,706 (+)Ensembl
Rnor_6.0 Ensembl5169,659,188 - 169,744,660 (+)Ensembl
RefSeq Acc Id: NM_001037650   ⟹   NP_001032739
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr85168,271,073 - 168,356,393 (+)NCBI
mRatBN7.25162,988,370 - 163,073,706 (+)NCBI
Rnor_6.05169,659,188 - 169,744,660 (+)NCBI
Rnor_5.05173,201,362 - 173,298,422 (+)NCBI
RGSC_v3.45169,711,038 - 169,797,486 (+)RGD
Celera5161,218,067 - 161,302,859 (+)RGD
Sequence:
RefSeq Acc Id: XM_006239465   ⟹   XP_006239527
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr85168,270,522 - 168,356,391 (+)NCBI
mRatBN7.25162,988,008 - 163,073,705 (+)NCBI
Rnor_6.05169,658,875 - 169,744,662 (+)NCBI
Rnor_5.05173,201,362 - 173,298,422 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017593435   ⟹   XP_017448924
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr85168,270,738 - 168,356,391 (+)NCBI
mRatBN7.25162,988,035 - 163,073,705 (+)NCBI
Rnor_6.05169,658,903 - 169,744,662 (+)NCBI
Sequence:
RefSeq Acc Id: XM_039110104   ⟹   XP_038966032
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr85168,270,914 - 168,356,391 (+)NCBI
mRatBN7.25162,988,206 - 163,073,708 (+)NCBI
RefSeq Acc Id: XM_039110105   ⟹   XP_038966033
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr85168,270,522 - 168,356,391 (+)NCBI
mRatBN7.25162,988,008 - 163,073,697 (+)NCBI
RefSeq Acc Id: NP_001032739   ⟸   NM_001037650
- UniProtKB: G3V9Y6 (UniProtKB/TrEMBL),   A6IUI8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006239527   ⟸   XM_006239465
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_017448924   ⟸   XM_017593435
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSRNOP00000063188   ⟸   ENSRNOT00000066623
RefSeq Acc Id: XP_038966033   ⟸   XM_039110105
- Peptide Label: isoform X2
- UniProtKB: G3V9Y6 (UniProtKB/TrEMBL),   A6IUI8 (UniProtKB/TrEMBL)

Name Modeler Protein Id AA Range Protein Structure
AF-G3V9Y6-F1-model_v2 AlphaFold G3V9Y6 1-1428 view protein structure


eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen



1 to 14 of 14 rows
Database
Acc Id
Source(s)
BioCyc Gene G2FUF-39002 BioCyc
Ensembl Genes ENSRNOG00000011967 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000066623 ENTREZGENE
  ENSRNOT00000066623.2 UniProtKB/TrEMBL
InterPro NPHP4 UniProtKB/TrEMBL
KEGG Report rno:313749 UniProtKB/TrEMBL
NCBI Gene 313749 ENTREZGENE
PANTHER NEPHROCYSTIN-4 UniProtKB/TrEMBL
  PTHR31043 UniProtKB/TrEMBL
PhenoGen Nphp4 PhenoGen
RatGTEx ENSRNOG00000011967 RatGTEx
UniProt A6IUI8 ENTREZGENE, UniProtKB/TrEMBL
  G3V9Y6 ENTREZGENE, UniProtKB/TrEMBL
  Q32Q04_RAT UniProtKB/TrEMBL
1 to 14 of 14 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-08-29 Nphp4  nephrocystin 4  Nphp4  nephronophthisis 4  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2013-01-22 Nphp4  nephronophthisis 4  Nphp4  nephronophthisis 4 (juvenile) homolog (human)  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2008-05-27 Nphp4  nephronophthisis 4 (juvenile) homolog (human)  Nphp4  nephronophthisis 4   Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2008-03-05 Nphp4  nephronophthisis 4   LOC313749  similar to mKIAA0673 protein  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2006-02-09 LOC313749  similar to mKIAA0673 protein      Symbol and Name status set to provisional 70820 PROVISIONAL