• Gene id: 5172

Gene Summary

• Gene Symbol: SLC26A4   Gene   UCSC   Ensembl
• Aliases: DFNB4, EVA, PDS, TDH2B
• Gene name: solute carrier family 26 member 4
• Alternate names: pendrin, sodium-independent chloride/iodide transporter, solute carrier family 26 (anion exchanger), member 4, truncated solute carrier family 26,
• Gene location: 7q22.3 (107660827: 107717808)     Exons: 23     NC_000007.14
• Gene summary(Entrez): 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 S
• OMIM: 605646

SNPs

rs397515341

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000014.9   g.49633937_49633952dup
NC_000014.8   g.50100655_50100670dup
NG_013070.1   g.6280_6295dup
NM_018139.2   c.1199_1214dup
NM_001083908.1   c.1199_1214dup
NP_060609.2   p.Gly406fs
NP_001077377.1   p.Gly406fs|SEQ=[GCCACGCAGGTATCGTG/GCCACGCAGGTATCGTGCCACGCA

rs137853191

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.49635127G>A
NC_000014.9   g.49635127G>C
NC_000014.9   g.49635127G>T
NC_000014.8   g.50101845G>A
NC_000014.8   g.50101845G>C
NC_000014.8   g.50101845G>T
NG_013070.1   g.5104C>T
NG_013070.1   g.5104C>G
NG_013070.1   g.5104C>A
NM_018139.2   c.23C>T
NM_01813  

rs2032278

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000018.10   g.77572081A>G
NC_000018.10   g.77572081A>T
NC_000018.9   g.75284037A>G
NC_000018.9   g.75284037A>T|SEQ=[A/G/T]|GENE=LOC107985172

Protein Summary

• Protein general information: O43511  
  • Name: Pendrin (Sodium independent chloride/iodide transporter) (Solute carrier family 26 member 4)
  • Length: 780  
  • Mass: 85723
  • Tissue specificity: High expression in adult thyroid, lower expression in adult and fetal kidney and fetal brain. Not expressed in other tissues.
• Sequence:

  MAAPGGRSEPPQLPEYSCSYMVSRPVYSELAFQQQHERRLQERKTLRESLAKCCSCSRKRAFGVLKTLVPILEWL
  PKYRVKEWLLSDVISGVSTGLVATLQGMAYALLAAVPVGYGLYSAFFPILTYFIFGTSRHISVGPFPVVSLMVGS
  VVLSMAPDEHFLVSSSNGTVLNTTMIDTAARDTARVLIASALTLLVGIIQLIFGGLQIGFIVRYLADPLVGGFTT
  AAAFQVLVSQLKIVLNVSTKNYNGVLSIIYTLVEIFQNIGDTNLADFTAGLLTIVVCMAVKELNDRFRHKIPVPI
  PIEVIVTIIATAISYGANLEKNYNAGIVKSIPRGFLPPELPPVSLFSEMLAASFSIAVVAYAIAVSVGKVYATKY
  DYTIDGNQEFIAFGISNIFSGFFSCFVATTALSRTAVQESTGGKTQVAGIISAAIVMIAILALGKLLEPLQKSVL
  AAVVIANLKGMFMQLCDIPRLWRQNKIDAVIWVFTCIVSIILGLDLGLLAGLIFGLLTVVLRVQFPSWNGLGSIP
  STDIYKSTKNYKNIEEPQGVKILRFSSPIFYGNVDGFKKCIKSTVGFDAIRVYNKRLKALRKIQKLIKSGQLRAT
  KNGIISDAVSTNNAFEPDEDIEDLEELDIPTKEIEIQVDWNSELPVKVNVPKVPIHSLVLDCGAISFLDVVGVRS
  LRVIVKEFQRIDVNVYFASLQDYVIEKLEQCGFFDDNIRKDTFFLTVHDAILYLQNQVKSQEGQGSILETITLIQ
  DCKDTLELIETELTEEELDVQDEAMRTLAS

• Structural information:
  • Protein Domains: (535..72-)
    (/note="STAS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00198"-)
  • Interpro: IPR030285  IPR018045  IPR011547  IPR001902  IPR002645   IPR036513  
  • Prosite: PS01130 PS50801
  • STRING: ENSP00000265715
• Other Databases: GeneCards:  SLC26A4  Malacards:  SLC26A4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019531	oxalate transmembrane transporter activity	IBA	molecular function
GO:0015301	anion:anion antiporter activity	IBA	molecular function
GO:0015116	sulfate transmembrane transporter activity	IBA	molecular function
GO:0015108	chloride transmembrane transporter activity	IBA	molecular function
GO:0015106	bicarbonate transmembrane transporter activity	IBA	molecular function
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0031526	brush border membrane	ISS	cellular component
GO:0015116	sulfate transmembrane transporter activity	IEA	molecular function
GO:0008271	secondary active sulfate transmembrane transporter activity	IEA	molecular function
GO:0008272	sulfate transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0098656	anion transmembrane transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0015108	chloride transmembrane transporter activity	TAS	molecular function
GO:0015116	sulfate transmembrane transporter activity	TAS	molecular function
GO:0015111	iodide transmembrane transporter activity	TAS	molecular function
GO:0015698	inorganic anion transport	TAS	biological process
GO:0007605	sensory perception of sound	TAS	biological process
GO:0007605	sensory perception of sound	TAS	biological process
GO:0008272	sulfate transport	TAS	biological process
GO:0016021	integral component of membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006811	ion transport	TAS	biological process
GO:0015111	iodide transmembrane transporter activity	TAS	molecular function
GO:0015108	chloride transmembrane transporter activity	IEA	molecular function
GO:0015698	inorganic anion transport	IEA	biological process
GO:0006885	regulation of pH	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0031526	brush border membrane	IEA	cellular component
GO:0032880	regulation of protein localization	IEA	biological process
GO:0015111	iodide transmembrane transporter activity	IEA	molecular function
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:1902358	sulfate transmembrane transport	IEA	biological process
GO:1902358	sulfate transmembrane transport	IEA	biological process
GO:1902358	sulfate transmembrane transport	IEA	biological process
GO:1902358	sulfate transmembrane transport	IEA	biological process
GO:0015701	bicarbonate transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:0019532	oxalate transport	IEA	biological process
GO:0015705	iodide transport	IEA	biological process
GO:0015705	iodide transport	IEA	biological process
GO:0015705	iodide transport	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0032880	regulation of protein localization	ISS	biological process
GO:0016324	apical plasma membrane	ISS	cellular component
GO:0006885	regulation of pH	ISS	biological process
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04918	Thyroid hormone synthesis

Diseases

Associated diseases	References
Deafness, autosomal recessive	KEGG:H00605
Thyroid dyshormonogenesis	KEGG:H00251
Deafness, autosomal recessive	KEGG:H00605
Thyroid dyshormonogenesis	KEGG:H00251
Autosomal recessive nonsyndromic deafness 4	PMID:18167283
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R