Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | hereditary hypophosphatemic rickets with hypercalciuria | | ISO | SLC34A3 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | hereditary hypophosphatemic rickets with hypercalciuria | | ISO | SLC34A3 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | Reference Title | Reference Citation |
1. | Differential Regulation of the Renal Sodium/Phosphate Co-Transporters NaPi-IIa, NaPi-IIc and PiT-2 in Dietary Potassium Deficiency. | Breusegem SY, etal., Am J Physiol Renal Physiol. 2009 Jun 3. |
2. | 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. |
3. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
4. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
5. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
6. | Phosphate handling: new genes, new molecules. | Prie D, etal., Horm Res Paediatr. 2011;76 Suppl 1:71-5. doi: 10.1159/000329175. Epub 2011 Jul 21. |
7. | GOA pipeline | RGD automated data pipeline |
8. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
9. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
10. | Parathyroid hormone-dependent endocytosis of renal type IIc Na-Pi cotransporter. | Segawa H, etal., Am J Physiol Renal Physiol. 2007 Jan;292(1):F395-403. Epub 2006 Sep 19. |
11. | Growth-related renal type II Na/Pi cotransporter. | Segawa H, etal., J Biol Chem 2002 May 31;277(22):19665-72. Epub 2002 Mar 5. |
12. | Effect of hydrolysis-resistant FGF23-R179Q on dietary phosphate regulation of the renal type-II Na/Pi transporter. | Segawa H, etal., Pflugers Arch. 2003 Aug;446(5):585-92. Epub 2003 Jul 8. |
13. | Magnesium stimulates renal phosphate reabsorption. | Thumfart J, etal., Am J Physiol Renal Physiol. 2008 Oct;295(4):F1126-33. Epub 2008 Aug 13. |
14. | Role of rat sodium/phosphate cotransporters in the cell membrane transport of arsenate. | Villa-Bellosta R and Sorribas V, Toxicol Appl Pharmacol. 2008 Oct 1;232(1):125-34. Epub 2008 Jun 10. |
PMID:12690469 | PMID:16358214 | PMID:19841935 | PMID:20526720 | PMID:23816829 |
Slc34a3 (Rattus norvegicus - Norway rat) |
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SLC34A3 (Homo sapiens - human) |
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Slc34a3 (Mus musculus - house mouse) |
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Slc34a3 (Chinchilla lanigera - long-tailed chinchilla) |
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SLC34A3 (Pan paniscus - bonobo/pygmy chimpanzee) |
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SLC34A3 (Canis lupus familiaris - dog) |
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Slc34a3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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SLC34A3 (Sus scrofa - pig) |
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SLC34A3 (Chlorocebus sabaeus - green monkey) |
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Slc34a3 (Heterocephalus glaber - naked mole-rat) |
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Variants in Slc34a3
1 total Variants |
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. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
RH128751 |
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circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | appendage | |
High | ||||||||||||
Medium | 23 | |||||||||||
Low | 4 | 4 | 4 | 1 | 8 | 6 | 11 | |||||
Below cutoff | 9 | 19 | 14 | 4 | 14 | 8 | 9 | 12 | 15 | 8 |
RefSeq Transcripts | NM_139338 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_006233558 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006233559 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006233561 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006233562 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006233564 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006233566 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017591456 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017591457 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017591458 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017591459 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017591460 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039104250 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063283081 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB077042 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
CH474001 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000003 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000014060 ⟹ ENSRNOP00000014060 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000079773 ⟹ ENSRNOP00000074364 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_139338 ⟹ NP_647554 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039104250 ⟹ XP_038960178 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_063283081 ⟹ XP_063139151 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_647554 | (Get FASTA) | NCBI Sequence Viewer |
XP_038960178 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063139151 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | BAB96817 | (Get FASTA) | NCBI Sequence Viewer |
EDL93627 | (Get FASTA) | NCBI Sequence Viewer | |
EDL93628 | (Get FASTA) | NCBI Sequence Viewer | |
EDL93629 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000014060 | ||
ENSRNOP00000014060.3 | |||
ENSRNOP00000074364.1 | |||
GenBank Protein | Q8K4R8 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_647554 ⟸ NM_139338 |
- UniProtKB: | Q8K4R8 (UniProtKB/Swiss-Prot), G3V7E1 (UniProtKB/TrEMBL), A6JT20 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000074364 ⟸ ENSRNOT00000079773 |
RefSeq Acc Id: | ENSRNOP00000014060 ⟸ ENSRNOT00000014060 |
RefSeq Acc Id: | XP_038960178 ⟸ XM_039104250 |
- Peptide Label: | isoform X2 |
- UniProtKB: | Q8K4R8 (UniProtKB/Swiss-Prot), G3V7E1 (UniProtKB/TrEMBL), A6JT20 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_063139151 ⟸ XM_063283081 |
- Peptide Label: | isoform X1 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q8K4R8-F1-model_v2 | AlphaFold | Q8K4R8 | 1-601 | 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:708551 | AgrOrtholog |
BioCyc Gene | G2FUF-50473 | BioCyc |
Ensembl Genes | ENSRNOG00000010451 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000014060 | ENTREZGENE |
ENSRNOT00000014060.7 | UniProtKB/TrEMBL | |
ENSRNOT00000079773.2 | UniProtKB/TrEMBL | |
InterPro | Na/Pi_transpt | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
KEGG Report | rno:246234 | UniProtKB/Swiss-Prot |
NCBI Gene | 246234 | ENTREZGENE |
PANTHER | PTHR10010 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR10010:SF35 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Na_Pi_cotrans | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PhenoGen | Slc34a3 | PhenoGen |
RatGTEx | ENSRNOG00000010451 | RatGTEx |
UniProt | A0A0G2K7V6_RAT | UniProtKB/TrEMBL |
A6JT18_RAT | UniProtKB/TrEMBL | |
A6JT20 | ENTREZGENE, UniProtKB/TrEMBL | |
G3V7E1 | ENTREZGENE, UniProtKB/TrEMBL | |
NPT2C_RAT | UniProtKB/Swiss-Prot, ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2016-03-09 | Slc34a3 | solute carrier family 34 member 3 | Slc34a3 | solute carrier family 34 (type II sodium/phosphate cotransporter), member 3 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2014-11-26 | Slc34a3 | solute carrier family 34 (type II sodium/phosphate cotransporter), member 3 | Slc34a3 | solute carrier family 34 (type II sodium/phosphate contransporter), member 3 | Name changed | 629549 | APPROVED |
2013-08-02 | Slc34a3 | solute carrier family 34 (type II sodium/phosphate contransporter), member 3 | Slc34a3 | solute carrier family 34 (sodium phosphate), member 3 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2004-09-10 | Slc34a3 | solute carrier family 34 (sodium phosphate), member 3 | LOC246234 | Na+/Pi-cotransporter type IIc | Symbol and Name updated | 1299863 | APPROVED |