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| # | 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. |
| PMID:19755384 | PMID:20169535 | PMID:21052544 | PMID:21078623 | PMID:21399614 | PMID:21565611 | PMID:22654112 | PMID:29899041 |
| Nphp4 (Rattus norvegicus - Norway rat) |
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| NPHP4 (Homo sapiens - human) |
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| Nphp4 (Mus musculus - house mouse) |
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| Nphp4 (Chinchilla lanigera - long-tailed chinchilla) |
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| NPHP4 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| NPHP4 (Canis lupus familiaris - dog) |
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| Nphp4 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| NPHP4 (Sus scrofa - pig) |
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| NPHP4 (Chlorocebus sabaeus - green monkey) |
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| Nphp4 (Heterocephalus glaber - naked mole-rat) |
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| Nphp4 (Rattus rattus - black rat) |
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| 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. |
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| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
| D5Rat244 |
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| RH94672 |
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 16 | 12 | 67 | 162 | 91 | 90 | 59 | 86 | 59 | 6 | 350 | 186 | 11 | 141 | 81 | 92 | 31 | 17 | 17 |
| 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 |
| Ensembl Acc Id: | ENSRNOT00000066623 ⟹ ENSRNOP00000063188 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| RefSeq Acc Id: | NM_001037650 ⟹ NP_001032739 | ||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_006239465 ⟹ XP_006239527 | ||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_017593435 ⟹ XP_017448924 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_039110104 ⟹ XP_038966032 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_039110105 ⟹ XP_038966033 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Protein RefSeqs | NP_001032739 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001423824 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001423825 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_006239527 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_017448924 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038966032 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038966033 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAI07906 | (Get FASTA) | NCBI Sequence Viewer |
| EDL81239 | (Get FASTA) | NCBI Sequence Viewer | |
| EDL81242 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000063188 | ||
| ENSRNOP00000063188.2 |
| 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 |
| RefSeq Acc Id: | XP_038966032 ⟸ XM_039110104 |
| - Peptide Label: | isoform X1 |
| 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 |
| Database | Acc Id | Source(s) |
| AGR Gene | RGD:1560172 | AgrOrtholog |
| BioCyc Gene | G2FUF-39002 | BioCyc |
| Ensembl Genes | ENSRNOG00000011967 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
| Ensembl Transcript | ENSRNOT00000066623 | ENTREZGENE |
| ENSRNOT00000066623.3 | 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 |
| 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 |