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| # | Reference Title | Reference Citation |
| 1. | SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. | Albert S, etal., Eur J Hum Genet. 2006 Jun;14(6):773-9. |
| 2. | Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity. | Blons H, etal., Clin Genet. 2004 Oct;66(4):333-40. |
| 3. | Iodide excess regulates its own efflux: a possible involvement of pendrin. | Calil-Silveira J, etal., Am J Physiol Cell Physiol. 2016 Apr 1;310(7):C576-82. doi: 10.1152/ajpcell.00210.2015. Epub 2016 Jan 20. |
| 4. | Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. | Campbell C, etal., Hum Mutat. 2001 May;17(5):403-11. |
| 5. | [Screening of SLC26A4 (PDS) gene mutation in cochlear implant recipients with inner ear malformation]. | Chen DY, etal., Zhonghua Yi Xue Za Zhi. 2007 Oct 30;87(40):2820-4. |
| 6. | Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians. | Choi BY, etal., Genet Test Mol Biomarkers. 2009 Oct;13(5):679-87. doi: 10.1089/gtmb.2009.0054. |
| 7. | Mouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisition. | Choi BY, etal., J Clin Invest. 2011 Nov;121(11):4516-25. doi: 10.1172/JCI59353. Epub 2011 Oct 3. |
| 8. | Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss. | Dai P, etal., Physiol Genomics. 2009 Aug 7;38(3):281-90. doi: 10.1152/physiolgenomics.00047.2009. Epub 2009 Jun 9. |
| 9. | Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome. | Everett LA, etal., Hum Mol Genet. 2001 Jan 15;10(2):153-61. |
| 10. | Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear. | Everett LA, etal., Proc Natl Acad Sci U S A 1999 Aug 17;96(17):9727-32. |
| 11. | Regulated expression of pendrin in rat kidney in response to chronic NH4Cl or NaHCO3 loading. | Frische S, etal., Am J Physiol Renal Physiol 2003 Mar;284(3):F584-93. |
| 12. | 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. |
| 13. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
| 14. | Immunocytochemical localization of pendrin in intercalated cell subtypes in rat and mouse kidney. | Kim YH, etal., Am J Physiol Renal Physiol 2002 Oct;283(4):F744-54. |
| 15. | SLC26A4 targeted to the endolymphatic sac rescues hearing and balance in Slc26a4 mutant mice. | Li X, etal., PLoS Genet. 2013 Jul;9(7):e1003641. doi: 10.1371/journal.pgen.1003641. Epub 2013 Jul 11. |
| 16. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 17. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 18. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 19. | Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. | Park HJ, etal., J Med Genet. 2003 Apr;40(4):242-8. |
| 20. | Regulation of the apical Cl-/HCO-3 exchanger pendrin in rat cortical collecting duct in metabolic acidosis. | Petrovic S, etal., Am J Physiol Renal Physiol 2003 Jan;284(1):F103-12. |
| 21. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
| 22. | Two missense mutations in SLC26A4 gene: a molecular and functional study. | Rebeh IB, etal., Clin Genet. 2010 Jul;78(1):74-80. doi: 10.1111/j.1399-0004.2009.01360.x. Epub 2009 Dec 2. |
| 23. | GOA pipeline | RGD automated data pipeline |
| 24. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 25. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 26. | Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion. | Royaux IE, etal., Proc Natl Acad Sci U S A. 2001 Mar 27;98(7):4221-6. doi: 10.1073/pnas.071516798. |
| 27. | Pendrin: an apical Cl-/OH-/HCO3- exchanger in the kidney cortex. | Soleimani M, etal., Am J Physiol Renal Physiol. 2001 Feb;280(2):F356-64. doi: 10.1152/ajprenal.2001.280.2.F356. |
| 28. | Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey. | Tekin M, etal., Clin Genet. 2003 Oct;64(4):371-4. |
| 29. | Tentative Sequence Identification Numbers | Tentative Sequence Data IDs. TIGR Gene Index, Rat Data |
| 30. | Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. | Tsukamoto K, etal., Eur J Hum Genet. 2003 Dec;11(12):916-22. |
| 31. | The renal physiology of pendrin (SLC26A4) and its role in hypertension. | Wall SM Novartis Found Symp. 2006;273:231-9; discussion 239-43, 261-4. |
| 32. | Loss of cochlear HCO3- secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model. | Wangemann P, etal., Am J Physiol Renal Physiol. 2007 May;292(5):F1345-53. Epub 2007 Feb 13. |
| 33. | Pendrin is an iodide-specific apical porter responsible for iodide efflux from thyroid cells. | Yoshida A, etal., J Clin Endocrinol Metab. 2002 Jul;87(7):3356-61. |
| PMID:11459928 | PMID:12388412 | PMID:15292050 | PMID:15385584 | PMID:16144965 | PMID:16260629 | PMID:16928804 | PMID:17182533 | PMID:17409310 | PMID:18459119 | PMID:18508879 | PMID:19056867 |
| PMID:21082674 | PMID:22178794 | PMID:22431001 | PMID:23376485 | PMID:23933130 | PMID:26173457 | PMID:26932931 | PMID:34326480 | PMID:36977894 |
| Slc26a4 (Rattus norvegicus - Norway rat) |
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| SLC26A4 (Homo sapiens - human) |
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| Slc26a4 (Mus musculus - house mouse) |
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| Slc26a4 (Chinchilla lanigera - long-tailed chinchilla) |
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| SLC26A4 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| SLC26A4 (Canis lupus familiaris - dog) |
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| Slc26a4 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| SLC26A4 (Sus scrofa - pig) |
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| SLC26A4 (Chlorocebus sabaeus - green monkey) |
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| Slc26a4 (Heterocephalus glaber - naked mole-rat) |
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| Slc26a4 (Rattus rattus - black rat) |
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.
Variants in Slc26a4
354 total Variants
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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 |
| RH129484 |
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| Slc26a4 |
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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 | 3 | 62 | 130 | 53 | 52 | 21 | 69 | 21 | 6 | 280 | 157 | 7 | 111 | 83 | 110 | 31 | 11 | 11 |
| RefSeq Transcripts | NM_019214 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_008764576 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008764577 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017594054 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AC107190 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AF167412 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH473947 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000006 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000087300 ⟹ ENSRNOP00000070261 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| RefSeq Acc Id: | NM_019214 ⟹ NP_062087 | ||||||||||||||||||||||||||||
| RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_008764576 ⟹ XP_008762798 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_008764577 ⟹ XP_008762799 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_017594054 ⟹ XP_017449543 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Sequence: |
| Protein RefSeqs | NP_062087 | (Get FASTA) | NCBI Sequence Viewer |
| XP_008762798 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_008762799 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_017449543 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAD51618 | (Get FASTA) | NCBI Sequence Viewer |
| EDM03255 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000070261 | ||
| ENSRNOP00000070261.1 | |||
| GenBank Protein | Q9R154 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_062087 ⟸ NM_019214 |
| - UniProtKB: | Q9R154 (UniProtKB/Swiss-Prot), A6HB51 (UniProtKB/TrEMBL), A6HB50 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_008762798 ⟸ XM_008764576 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q9R154 (UniProtKB/Swiss-Prot), A6HB51 (UniProtKB/TrEMBL), A6HB50 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_008762799 ⟸ XM_008764577 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | A6HB50 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_017449543 ⟸ XM_017594054 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q9R154 (UniProtKB/Swiss-Prot), A6HB51 (UniProtKB/TrEMBL), A6HB50 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000070261 ⟸ ENSRNOT00000087300 |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-Q9R154-F1-model_v2 | AlphaFold | Q9R154 | 1-780 | 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:3293 | AgrOrtholog |
| BioCyc Gene | G2FUF-37915 | BioCyc |
| Ensembl Genes | ENSRNOG00000058692 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Transcript | ENSRNOT00000087300 | ENTREZGENE |
| ENSRNOT00000087300.2 | UniProtKB/Swiss-Prot | |
| Gene3D-CATH | 3.30.750.24 | UniProtKB/Swiss-Prot |
| InterPro | S04_transporter_CS | UniProtKB/Swiss-Prot |
| SLC26A/SulP_dom | UniProtKB/Swiss-Prot | |
| SLC26A/SulP_fam | UniProtKB/Swiss-Prot | |
| STAS_dom | UniProtKB/Swiss-Prot | |
| STAS_dom_sf | UniProtKB/Swiss-Prot | |
| KEGG Report | rno:29440 | UniProtKB/Swiss-Prot |
| NCBI Gene | 29440 | ENTREZGENE |
| PANTHER | PTHR11814 | UniProtKB/Swiss-Prot |
| Pfam | STAS | UniProtKB/Swiss-Prot |
| Sulfate_transp | UniProtKB/Swiss-Prot | |
| PhenoGen | Slc26a4 | PhenoGen |
| PROSITE | SLC26A | UniProtKB/Swiss-Prot |
| STAS | UniProtKB/Swiss-Prot | |
| RatGTEx | ENSRNOG00000058692 | RatGTEx |
| Superfamily-SCOP | SSF52091 | UniProtKB/Swiss-Prot |
| TIGR | TC220020 | |
| UniProt | A6HB50 | ENTREZGENE, UniProtKB/TrEMBL |
| A6HB51 | ENTREZGENE, UniProtKB/TrEMBL | |
| Q9R154 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2016-02-24 | Slc26a4 | solute carrier family 26 member 4 | Slc26a4 | solute carrier family 26 (anion exchanger), member 4 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2013-08-02 | Slc26a4 | solute carrier family 26 (anion exchanger), member 4 | Slc26a4 | solute carrier family 26, member 4 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2002-06-10 | Slc26a4 | solute carrier family 26, member 4 | Slc26a4 | Solute carrier family 26 member 4 | Name updated | 70584 | APPROVED |
| 2002-06-10 | Slc26a4 | solute carrier family 26, member 4 | Name updated | 70584 | APPROVED | ||
| 2001-12-10 | Slc26a4 | Solute carrier family 26 member 4 | Symbol and Name updated to reflect Human and Mouse nomenclature | 69665 | APPROVED |
| Note Type | Note | Reference |
|---|---|---|
| gene_expression | mRNA expressed in the cortex of the kidney | 634144 |
| gene_function | participates as an exchanger in acid-base regulation in the cortical collecting duct (CCD) | 634144 |
| gene_regulation | expression is regulated by the apical Cl(-)/HCO(3)(-) exchanger | 634144 |