Details for: SLC26A4

Gene ID: 5172

Symbol: SLC26A4

Ensembl ID: ENSG00000091137

Description: solute carrier family 26 member 4

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 55.0965
    Cell Significance Index: -8.5700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 33.9453
    Cell Significance Index: -8.6100
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 20.3181
    Cell Significance Index: -8.3700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 7.0076
    Cell Significance Index: -8.6400
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 6.9757
    Cell Significance Index: -6.6600
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 2.1744
    Cell Significance Index: 13.4200
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 1.7359
    Cell Significance Index: 13.3800
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 1.6787
    Cell Significance Index: 24.0400
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 1.6065
    Cell Significance Index: 21.4300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.5882
    Cell Significance Index: 18.8400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.4971
    Cell Significance Index: 99.7200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.4542
    Cell Significance Index: 162.9200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.4428
    Cell Significance Index: 306.2900
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: 0.3554
    Cell Significance Index: 5.1800
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.3259
    Cell Significance Index: 9.3000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2864
    Cell Significance Index: 14.8800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.2690
    Cell Significance Index: 18.0900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2675
    Cell Significance Index: 50.9200
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.2585
    Cell Significance Index: 2.6800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2135
    Cell Significance Index: 21.1200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.1653
    Cell Significance Index: 149.2900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1086
    Cell Significance Index: 17.6700
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.0996
    Cell Significance Index: 1.5800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.0886
    Cell Significance Index: 55.3000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.0562
    Cell Significance Index: 6.1100
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: 0.0424
    Cell Significance Index: 0.5500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0386
    Cell Significance Index: 17.5000
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.0332
    Cell Significance Index: 0.7100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0323
    Cell Significance Index: 0.9300
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: 0.0173
    Cell Significance Index: 0.2300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0055
    Cell Significance Index: 1.0000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0044
    Cell Significance Index: 0.2000
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.0009
    Cell Significance Index: 0.0200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0011
    Cell Significance Index: -2.0700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0025
    Cell Significance Index: -3.8200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0026
    Cell Significance Index: -1.9100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0029
    Cell Significance Index: -5.2600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0037
    Cell Significance Index: -2.3300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0048
    Cell Significance Index: -2.1200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0056
    Cell Significance Index: -7.6300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0065
    Cell Significance Index: -0.2300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0087
    Cell Significance Index: -4.9200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0103
    Cell Significance Index: -7.5600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0118
    Cell Significance Index: -1.7100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0121
    Cell Significance Index: -9.1700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0124
    Cell Significance Index: -6.7900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0140
    Cell Significance Index: -2.9400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0152
    Cell Significance Index: -0.3800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0158
    Cell Significance Index: -2.6900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0159
    Cell Significance Index: -2.0400
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.0257
    Cell Significance Index: -0.3900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0263
    Cell Significance Index: -7.5800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0263
    Cell Significance Index: -0.5700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0267
    Cell Significance Index: -5.2900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0290
    Cell Significance Index: -1.7800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.0294
    Cell Significance Index: -2.0400
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0309
    Cell Significance Index: -0.6400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0327
    Cell Significance Index: -2.0100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.0365
    Cell Significance Index: -2.1900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0376
    Cell Significance Index: -1.0500
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.0389
    Cell Significance Index: -0.3700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0433
    Cell Significance Index: -5.3300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0470
    Cell Significance Index: -6.0700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0479
    Cell Significance Index: -5.5800
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0506
    Cell Significance Index: -5.7800
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0536
    Cell Significance Index: -1.0600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0539
    Cell Significance Index: -7.4000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0543
    Cell Significance Index: -4.1700
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0555
    Cell Significance Index: -1.3300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0563
    Cell Significance Index: -5.7500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0611
    Cell Significance Index: -7.0000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0784
    Cell Significance Index: -9.2400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0789
    Cell Significance Index: -8.2200
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0805
    Cell Significance Index: -1.7400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0812
    Cell Significance Index: -5.7400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0813
    Cell Significance Index: -4.2700
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0819
    Cell Significance Index: -2.8700
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.0826
    Cell Significance Index: -0.9000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0879
    Cell Significance Index: -5.5400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0900
    Cell Significance Index: -4.2300
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0934
    Cell Significance Index: -2.3300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0953
    Cell Significance Index: -7.1000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0962
    Cell Significance Index: -7.6200
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: -0.0983
    Cell Significance Index: -0.9100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1115
    Cell Significance Index: -4.9300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1142
    Cell Significance Index: -3.7400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1181
    Cell Significance Index: -6.1500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1182
    Cell Significance Index: -2.0300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.1187
    Cell Significance Index: -1.6200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1214
    Cell Significance Index: -5.6600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1249
    Cell Significance Index: -8.0600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1281
    Cell Significance Index: -4.8500
  • Cell Name: L5/6 near-projecting glutamatergic neuron (CL4030067)
    Fold Change: -0.1299
    Cell Significance Index: -0.6800
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.1314
    Cell Significance Index: -0.8900
  • Cell Name: serous cell of epithelium of trachea (CL1000330)
    Fold Change: -0.1337
    Cell Significance Index: -1.0300
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.1373
    Cell Significance Index: -1.5600
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.1395
    Cell Significance Index: -2.3500
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1430
    Cell Significance Index: -2.8700
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.1453
    Cell Significance Index: -6.3200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1460
    Cell Significance Index: -8.1900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The SLC26A4 gene exhibits several key characteristics that highlight its importance in maintaining cellular homeostasis: 1. **Multifunctional transport activity**: Pendrin exhibits a wide range of transport activities, including chloride, bicarbonate, iodide, and sulfate transport, making it a critical component of various cellular processes. 2. **Apical membrane localization**: Pendrin is primarily localized to the apical membrane of thyroid follicular cells and inner ear sensory cells, where it regulates ion and molecule transport. 3. **Regulation of pH**: Pendrin plays a crucial role in regulating the intracellular pH by exchanging ions and molecules across the cell membrane. 4. **Essential for thyroid function**: Pendrin is essential for thyroid function, as mutations in the SLC26A4 gene have been associated with Pendred syndrome and other thyroid disorders. 5. **Expression in multiple tissues**: Pendrin is expressed in various tissues, including the thyroid, inner ear, kidney, and intestine, highlighting its widespread role in maintaining cellular homeostasis. **Pathways and Functions** The SLC26A4 gene is involved in several key pathways and functions, including: 1. **Iodide transport**: Pendrin regulates iodide transport in the thyroid, essential for the synthesis of thyroid hormones. 2. **Chloride and bicarbonate transport**: Pendrin facilitates the exchange of chloride and bicarbonate ions across the apical membrane of thyroid follicular cells and inner ear sensory cells. 3. **Hearing and balance**: Pendrin is essential for the maintenance of hearing and balance, as mutations in the SLC26A4 gene have been associated with Pendred syndrome and other auditory and vestibular disorders. 4. **Regulation of pH**: Pendrin plays a crucial role in regulating the intracellular pH by exchanging ions and molecules across the cell membrane. 5. **Sulfate and oxalate transport**: Pendrin facilitates the transport of sulfate and oxalate ions across the apical membrane of various cells. **Clinical Significance** The SLC26A4 gene has significant clinical implications, as mutations in this gene have been associated with several disorders, including: 1. **Pendred syndrome**: A genetic disorder characterized by congenital bilateral sensorineural hearing loss and goiter. 2. **Neonatal hypothyroidism**: A condition characterized by thyroid hormone deficiency in newborns, often associated with mutations in the SLC26A4 gene. 3. **Thyroid disorders**: Mutations in the SLC26A4 gene have been associated with various thyroid disorders, including goiter, hypothyroidism, and hyperthyroidism. 4. **Inner ear disorders**: Pendred syndrome and other auditory and vestibular disorders have been associated with mutations in the SLC26A4 gene. In conclusion, the SLC26A4 gene plays a critical role in maintaining cellular homeostasis and is essential for various cellular processes, including iodide transport, chloride and bicarbonate transport, and hearing and balance. Mutations in this gene have significant clinical implications, as they have been associated with several disorders, including Pendred syndrome, neonatal hypothyroidism, and thyroid disorders.

Genular Protein ID: 2938473908

Symbol: S26A4_HUMAN

Name: Pendrin

UniProtKB Accession Codes:

O43511 B7Z266 O43170

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 10 ChEMBL 1 DNASU 1 DisGeNET 1 DrugBank 1 EMBL 4 EMDB 3 Ensembl 1 ExpressionAtlas 1 GO 19 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 2 RefSeq 2 Rhea 9 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9398842

Title: Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).

PubMed ID: 9398842

DOI: 10.1038/ng1297-411

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 10192399

Title: The Pendred syndrome gene encodes a chloride-iodide transport protein.

PubMed ID: 10192399

DOI: 10.1038/7783

PubMed ID: 10644529

Title: Human pendrin expressed in Xenopus laevis oocytes mediates chloride/formate exchange.

PubMed ID: 10644529

DOI: 10.1152/ajpcell.2000.278.1.c207

PubMed ID: 11274445

Title: Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion.

PubMed ID: 11274445

DOI: 10.1073/pnas.071516798

PubMed ID: 12107249

Title: Pendrin is an iodide-specific apical porter responsible for iodide efflux from thyroid cells.

PubMed ID: 12107249

DOI: 10.1210/jcem.87.7.8679

PubMed ID: 15155570

Title: Mechanism of iodide/chloride exchange by pendrin.

PubMed ID: 15155570

DOI: 10.1210/en.2004-0048

PubMed ID: 35601831

Title: Identification of IQGAP1 as a SLC26A4 (Pendrin)-Binding Protein in the Kidney.

PubMed ID: 35601831

DOI: 10.3389/fmolb.2022.874186

PubMed ID: 9618166

Title: Two frequent missense mutations in Pendred syndrome.

PubMed ID: 9618166

DOI: 10.1093/hmg/7.7.1099

PubMed ID: 9618167

Title: Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre).

PubMed ID: 9618167

DOI: 10.1093/hmg/7.7.1105

PubMed ID: 9500541

Title: A mutation in PDS causes non-syndromic recessive deafness.

PubMed ID: 9500541

DOI: 10.1038/ng0398-215

PubMed ID: 10190331

Title: Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.

PubMed ID: 10190331

DOI: 10.1007/s004390050933

PubMed ID: 10602116

Title: Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation.

PubMed ID: 10602116

DOI: 10.1002/(sici)1096-8628(20000103)90:1<38::aid-ajmg8>3.3.co;2-i

PubMed ID: 10718825

Title: A novel mutation in the pendrin gene associated with Pendred's syndrome.

PubMed ID: 10718825

DOI: 10.1046/j.1365-2265.2000.00930.x

PubMed ID: 10878664

Title: Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus.

PubMed ID: 10878664

DOI: 10.1038/sj.ejhg.5200489

PubMed ID: 10700480

Title: Enlarged vestibular aqueduct: a radiological marker of Pendred syndrome, and mutation of the PDS gene.

PubMed ID: 10700480

DOI: 10.1093/qjmed/93.2.99

PubMed ID: 11375792

Title: Clinical and molecular analysis of three Mexican families with Pendred's syndrome.

PubMed ID: 11375792

DOI: 10.1530/eje.0.1440585

PubMed ID: 11317356

Title: Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.

PubMed ID: 11317356

DOI: 10.1002/humu.1116

PubMed ID: 11748854

Title: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.

PubMed ID: 11748854

DOI: 10.1002/humu.1238

PubMed ID: 12112665

Title:

PubMed ID: 12112665

DOI: 10.1002/humu.9043

PubMed ID: 11932316

Title: Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome.

PubMed ID: 11932316

DOI: 10.1210/jcem.87.4.8435

PubMed ID: 11919333

Title: Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies.

PubMed ID: 11919333

DOI: 10.1203/00006450-200204000-00013

PubMed ID: 12974744

Title: 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.

PubMed ID: 12974744

DOI: 10.1034/j.1399-0004.2003.00144.x

PubMed ID: 14508505

Title: 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.

PubMed ID: 14508505

DOI: 10.1038/sj.ejhg.5201073

PubMed ID: 12788906

Title: Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation.

PubMed ID: 12788906

DOI: 10.1210/jc.2002-021334

PubMed ID: 12676893

Title: Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.

PubMed ID: 12676893

DOI: 10.1136/jmg.40.4.242

PubMed ID: 14679580

Title: Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.

PubMed ID: 14679580

DOI: 10.1002/ajmg.a.20272

PubMed ID: 15355436

Title: Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.

PubMed ID: 15355436

DOI: 10.1111/j.1399-0004.2004.00296.x

PubMed ID: 15531480

Title: Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.

PubMed ID: 15531480

DOI: 10.1210/jc.2004-1013

PubMed ID: 15689455

Title: SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities.

PubMed ID: 15689455

DOI: 10.1136/jmg.2004.024208

PubMed ID: 16684826

Title: Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.

PubMed ID: 16684826

DOI: 10.1210/jc.2006-0142

PubMed ID: 17146393

Title: Temporal bone imaging in GJB2 deafness.

PubMed ID: 17146393

DOI: 10.1097/01.mlg.0000244389.68568.a7

PubMed ID: 19204907

Title: Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?

PubMed ID: 19204907

DOI: 10.1002/humu.20884

PubMed ID: 20597900

Title: Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without enlarged vestibular aqueduct (EVA).

PubMed ID: 20597900

DOI: 10.1111/j.1469-1809.2010.00581.x

PubMed ID: 20108392

Title: Novel human pathological mutations. Gene symbol: SLC26A4. Disease: Deafness, non-syndromic, autosomal recessive.

PubMed ID: 20108392

PubMed ID: 24051746

Title: Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct.

PubMed ID: 24051746

DOI: 10.1001/jamaoto.2013.4185

PubMed ID: 27535533

Title: Analysis of protein-coding genetic variation in 60,706 humans.

PubMed ID: 27535533

DOI: 10.1038/nature19057

PubMed ID: 28281779

Title: Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.

PubMed ID: 28281779

DOI: 10.1089/gtmb.2016.0328

Sequence Information:

  • Length: 780
  • Mass: 85723
  • Checksum: 3AEF5D720B155CE0
  • Sequence:
    • MAAPGGRSEP PQLPEYSCSY MVSRPVYSEL AFQQQHERRL QERKTLRESL AKCCSCSRKR 
AFGVLKTLVP ILEWLPKYRV KEWLLSDVIS GVSTGLVATL QGMAYALLAA VPVGYGLYSA 
FFPILTYFIF GTSRHISVGP FPVVSLMVGS VVLSMAPDEH FLVSSSNGTV LNTTMIDTAA 
RDTARVLIAS ALTLLVGIIQ LIFGGLQIGF IVRYLADPLV GGFTTAAAFQ VLVSQLKIVL 
NVSTKNYNGV LSIIYTLVEI FQNIGDTNLA DFTAGLLTIV VCMAVKELND RFRHKIPVPI 
PIEVIVTIIA TAISYGANLE KNYNAGIVKS IPRGFLPPEL PPVSLFSEML AASFSIAVVA 
YAIAVSVGKV YATKYDYTID GNQEFIAFGI SNIFSGFFSC FVATTALSRT AVQESTGGKT 
QVAGIISAAI VMIAILALGK LLEPLQKSVL AAVVIANLKG MFMQLCDIPR LWRQNKIDAV 
IWVFTCIVSI ILGLDLGLLA GLIFGLLTVV LRVQFPSWNG LGSIPSTDIY KSTKNYKNIE 
EPQGVKILRF SSPIFYGNVD GFKKCIKSTV GFDAIRVYNK RLKALRKIQK LIKSGQLRAT 
KNGIISDAVS TNNAFEPDED IEDLEELDIP TKEIEIQVDW NSELPVKVNV PKVPIHSLVL 
DCGAISFLDV VGVRSLRVIV KEFQRIDVNV YFASLQDYVI EKLEQCGFFD DNIRKDTFFL 
TVHDAILYLQ NQVKSQEGQG SILETITLIQ DCKDTLELIE TELTEEELDV QDEAMRTLAS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.