Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SLC26A4 Gene

Aliases for SLC26A4 Gene

  • Solute Carrier Family 26 (Anion Exchanger), Member 4 2 3
  • PDS 3 4 6
  • Sodium-Independent Chloride/Iodide Transporter 3 4
  • Pendrin 2 3
  • TDH2B 3 6
  • DFNB4 3 6
  • EVA 3 6
  • Solute Carrier Family 26, Member 4 2
  • Solute Carrier Family 26 Member 4 4

External Ids for SLC26A4 Gene

Previous HGNC Symbols for SLC26A4 Gene

  • DFNB4

Previous GeneCards Identifiers for SLC26A4 Gene

  • GC07P105784
  • GC07P106847
  • GC07P106861
  • GC07P106895
  • GC07P107088
  • GC07P107301
  • GC07P101661

Summaries for SLC26A4 Gene

Entrez Gene Summary for SLC26A4 Gene

  • Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene; they have similar genomic structures and this gene is located 3' of the SLC26A3 gene. The encoded protein has homology to sulfate transporters. [provided by RefSeq, Jul 2008]

GeneCards Summary for SLC26A4 Gene

SLC26A4 (Solute Carrier Family 26 (Anion Exchanger), Member 4) is a Protein Coding gene. Diseases associated with SLC26A4 include pendred syndrome and deafness, autosomal recessive 4, with enlarged vestibular aqueduct. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Insulin secretion. GO annotations related to this gene include secondary active sulfate transmembrane transporter activity and chloride transmembrane transporter activity. An important paralog of this gene is SLC26A2.

UniProtKB/Swiss-Prot for SLC26A4 Gene

  • Sodium-independent transporter of chloride and iodide.

Gene Wiki entry for SLC26A4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC26A4 Gene

Genomics for SLC26A4 Gene

Regulatory Elements for SLC26A4 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SLC26A4 Gene

Start:
107,660,635 bp from pter
End:
107,717,809 bp from pter
Size:
57,175 bases
Orientation:
Plus strand

Genomic View for SLC26A4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC26A4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC26A4 Gene

Proteins for SLC26A4 Gene

  • Protein details for SLC26A4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43511-S26A4_HUMAN
    Recommended name:
    Pendrin
    Protein Accession:
    O43511
    Secondary Accessions:
    • B7Z266
    • O43170

    Protein attributes for SLC26A4 Gene

    Size:
    780 amino acids
    Molecular mass:
    85723 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC26A4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC26A4 Gene

Proteomics data for SLC26A4 Gene at MOPED

Post-translational modifications for SLC26A4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC26A4 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC26A4 Gene

Domains for SLC26A4 Gene

Gene Families for SLC26A4 Gene

HGNC:
  • SLC :Solute carriers
IUPHAR :

Protein Domains for SLC26A4 Gene

Graphical View of Domain Structure for InterPro Entry

O43511

UniProtKB/Swiss-Prot:

S26A4_HUMAN :
  • O43511
Domain:
  • Contains 1 STAS domain.
Family:
  • Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.
genes like me logo Genes that share domains with SLC26A4: view

Function for SLC26A4 Gene

Molecular function for SLC26A4 Gene

UniProtKB/Swiss-Prot Function: Sodium-independent transporter of chloride and iodide.

Gene Ontology (GO) - Molecular Function for SLC26A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008271 secondary active sulfate transmembrane transporter activity IEA --
GO:0015108 chloride transmembrane transporter activity IEA --
GO:0015111 iodide transmembrane transporter activity IEA --
GO:0015116 sulfate transmembrane transporter activity TAS 9398842
genes like me logo Genes that share ontologies with SLC26A4: view
genes like me logo Genes that share phenotypes with SLC26A4: view

Animal Models for SLC26A4 Gene

MGI Knock Outs for SLC26A4:

Animal Model Products

CRISPR Products

miRNA for SLC26A4 Gene

miRTarBase miRNAs that target SLC26A4

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC26A4

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SLC26A4 Gene

Localization for SLC26A4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC26A4 Gene

Membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Note=Localizes to the apical brush border of cells in the cortical collecting ducts of the kidney. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC26A4 Gene COMPARTMENTS Subcellular localization image for SLC26A4 gene
Compartment Confidence
plasma membrane 5
mitochondrion 2
cytosol 1
extracellular 1

Gene Ontology (GO) - Cellular Components for SLC26A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane --
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
GO:0016324 apical plasma membrane ISS --
GO:0031526 brush border membrane ISS --
genes like me logo Genes that share ontologies with SLC26A4: view

Pathways for SLC26A4 Gene

genes like me logo Genes that share pathways with SLC26A4: view

Interacting Proteins for SLC26A4 Gene

Gene Ontology (GO) - Biological Process for SLC26A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport --
GO:0006821 chloride transport --
GO:0006885 regulation of pH ISS --
GO:0007605 sensory perception of sound TAS 10192399
GO:0008272 sulfate transport TAS 9398842
genes like me logo Genes that share ontologies with SLC26A4: view

Compounds for SLC26A4 Gene

(2) HMDB Compounds for SLC26A4 Gene

Compound Synonyms Cas Number PubMed IDs
Chlorine
  • Cl2
16887-00-6
Sodium
  • Sodium
7440-23-5

(19) Novoseek inferred chemical compound relationships for SLC26A4 Gene

Compound -log(P) Hits PubMed IDs
iodide 91.3 86
sodium iodide 84.1 14
perchlorate 82 8
iodine 70.9 7
chloride 65 49
genes like me logo Genes that share compounds with SLC26A4: view

Transcripts for SLC26A4 Gene

Unigene Clusters for SLC26A4 Gene

Solute carrier family 26, member 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC26A4

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for SLC26A4

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC26A4 Gene

No ASD Table

Relevant External Links for SLC26A4 Gene

GeneLoc Exon Structure for
SLC26A4
ECgene alternative splicing isoforms for
SLC26A4

Expression for SLC26A4 Gene

mRNA expression in normal human tissues for SLC26A4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC26A4 Gene

This gene is overexpressed in Thyroid (34.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SLC26A4 Gene

SOURCE GeneReport for Unigene cluster for SLC26A4 Gene Hs.571246

mRNA Expression by UniProt/SwissProt for SLC26A4 Gene

O43511-S26A4_HUMAN
Tissue specificity: High expression in adult thyroid, lower expression in adult and fetal kidney and fetal brain. Not expressed in other tissues
genes like me logo Genes that share expressions with SLC26A4: view

In Situ Assay Products

Orthologs for SLC26A4 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC26A4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC26A4 35
  • 99.27 (n)
  • 99.1 (a)
SLC26A4 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC26A4 35
  • 88.59 (n)
  • 88.59 (a)
SLC26A4 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC26A4 35
  • 89.06 (n)
  • 90.38 (a)
SLC26A4 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc26a4 35
  • 85.38 (n)
  • 87.56 (a)
Slc26a4 16
Slc26a4 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC26A4 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC26A4 36
  • 53 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc26a4 35
  • 85.04 (n)
  • 88.72 (a)
chicken
(Gallus gallus)
Aves SLC26A4 35
  • 74.91 (n)
  • 75.77 (a)
SLC26A4 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC26A4 36
  • 74 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.14481 35
tropical clawed frog
(Silurana tropicalis)
Amphibia slc26a4 35
  • 68.57 (n)
  • 66.15 (a)
Str.15488 35
zebrafish
(Danio rerio)
Actinopterygii slc26a4 35
  • 61.53 (n)
  • 58.61 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG9702 37
  • 25 (a)
CG5485 37
  • 30 (a)
worm
(Caenorhabditis elegans)
Secernentea K12G11.2 37
  • 32 (a)
W04G3.6 37
  • 37 (a)
F14D12.5 37
  • 31 (a)
ZK287.2 37
  • 36 (a)
W01B11.2 37
  • 30 (a)
K12G11.1 37
  • 30 (a)
Species with no ortholog for SLC26A4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC26A4 Gene

ENSEMBL:
Gene Tree for SLC26A4 (if available)
TreeFam:
Gene Tree for SLC26A4 (if available)

Paralogs for SLC26A4 Gene

genes like me logo Genes that share paralogs with SLC26A4: view

Variants for SLC26A4 Gene

Sequence variations from dbSNP and Humsavar for SLC26A4 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs916730 -- 107,684,708(+) AATTA(A/C)TATTT intron-variant
rs956788 -- 107,689,990(-) TTTAC(C/T)GTGAT intron-variant, upstream-variant-2KB
rs982662 -- 107,703,509(+) TGAAA(A/T)CACTC intron-variant
rs982663 -- 107,703,588(+) GTTCA(A/G)TGAAT intron-variant
rs982664 -- 107,703,771(+) ATTGA(A/C/T)TATGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC26A4 Gene

Variant ID Type Subtype PubMed ID
nsv518018 CNV Loss 19592680
esv2734988 CNV Deletion 23290073

Relevant External Links for SLC26A4 Gene

HapMap Linkage Disequilibrium report
SLC26A4
Human Gene Mutation Database (HGMD)
SLC26A4
Locus Specific Mutation Databases (LSDB)
SLC26A4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC26A4 Gene

Disorders for SLC26A4 Gene

(2) OMIM Diseases for SLC26A4 Gene (605646)

UniProtKB/Swiss-Prot

S26A4_HUMAN
  • Pendred syndrome (PDS) [MIM:274600]: An autosomal recessive disorder characterized by congenital sensorineural hearing loss in association with thyroid goiter. The disorder may account for up to 10% of the cases of hereditary deafness. The deafness is most often associated with a Mondini cochlear defect. Deafness occurs early, starting at birth or during the first years of life. It is bilateral, sometimes asymmetrical, fluctuant and often progressive. Thyroid perturbations, such as thyroid goiter and/or hypothyroidism appear most commonly during adolescence, but they can be congenital or appear later. {ECO:0000269 PubMed:10602116, ECO:0000269 PubMed:10718825, ECO:0000269 PubMed:10878664, ECO:0000269 PubMed:11317356, ECO:0000269 PubMed:11375792, ECO:0000269 PubMed:11748854, ECO:0000269 PubMed:11919333, ECO:0000269 PubMed:12788906, ECO:0000269 PubMed:12974744, ECO:0000269 PubMed:15355436, ECO:0000269 PubMed:15531480, ECO:0000269 PubMed:15689455, ECO:0000269 PubMed:19204907, ECO:0000269 PubMed:9398842, ECO:0000269 PubMed:9618166, ECO:0000269 PubMed:9618167}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB4 is associated with an enlarged vestibular aqueduct. {ECO:0000269 PubMed:10190331, ECO:0000269 PubMed:10700480, ECO:0000269 PubMed:11748854, ECO:0000269 PubMed:12676893, ECO:0000269 PubMed:14508505, ECO:0000269 PubMed:14679580, ECO:0000269 PubMed:19204907, ECO:0000269 PubMed:20108392, ECO:0000269 PubMed:20597900, ECO:0000269 PubMed:9500541}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(34) Novoseek inferred disease relationships for SLC26A4 Gene

Disease -log(P) Hits PubMed IDs
pendred syndrome 99.2 127
dfnb4 95.5 17
enlarged vestibular aqueduct syndrome 93.1 6
goiter 88.9 27
ear malformation 88.1 10

Relevant External Links for SLC26A4

GeneTests
SLC26A4
GeneReviews
SLC26A4
Genetic Association Database (GAD)
SLC26A4
Human Genome Epidemiology (HuGE) Navigator
SLC26A4
genes like me logo Genes that share disorders with SLC26A4: view

Publications for SLC26A4 Gene

  1. A novel mutation in the pendrin gene associated with Pendred's syndrome. (PMID: 10718825) Bogazzi F. … Bartalena L. (Clin. Endocrinol. (Oxf.) 2000) 3 4 23 48
  2. Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? (PMID: 19204907) Choi B.Y. … Griffith A.J. (Hum. Mutat. 2009) 3 4 23 48
  3. Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients. (PMID: 18585793) Lee K.Y. … Lee S.H. (Int. J. Pediatr. Otorhinolaryngol. 2008) 3 23 48
  4. SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss. (PMID: 18641518) Dai P. … Wu B.L. (Genet. Med. 2008) 3 23 48
  5. Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis. (PMID: 19040761) Dai P. … Wong L.J. (J Transl Med 2008) 3 23 48

Products for SLC26A4 Gene

Sources for SLC26A4 Gene

Back to Top

Content