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SLC26A4 Gene

protein-coding   GIFtS: 59

GC07P107088
solute carrier family 26, member 4
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: DFNB4)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
DFNB4 2, 5
EVA 2, 5
PDS 1, 2, 3, 5
pendrin 2
Descriptions
Sodium-independent chloride/iodide transporter 3
Solute carrier family 26 member 4 3
solute carrier family 26, member 4 2
External Ids
HGNC: 88181
Entrez Gene: 51722
UniProtKB: O435113
Ensembl: ENSG000000911377
Search outside databases for aliases for SLC26A4 gene

Previous GC identifers: GC07P105784 GC07P106847 GC07P106861 GC07P106895

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for SLC26A4:
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]

UniProtKB/Swiss-Prot: S26A4_HUMAN, O43511
Function: Sodium-independent transporter of chloride and iodide

Gene Wiki entry for SLC26A4 (Pendrin)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the SLC26A4 gene  

Entrez Gene cytogenetic band: 7q31   Ensembl cytogenetic band:  7q22.3   HGNC cytogenetic band: 7q31

SLC26A4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P107088:     (about GC identifiers)

Start:
107,088,316 bp from pter
End:
107,145,490 bp from pter
Size:
57,175 bases
Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 106,662,192-106,719,369     
RefSeq DNA sequence:
NC_000007.12  NT_007933.14  NT_079596.2  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: S26A4_HUMAN, O43511 (See protein sequence)
Recommended Name: Pendrin  
Size: 780 amino acids; 85723 Da
Subcellular location: Membrane; Multi-pass membrane protein (Probable)
Secondary accessions: O43170

REFSEQ proteins: NP_000432.1  

ENSEMBL proteins: 
ENSP00000265715 


Human Recombinant Proteins 
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Recombinant Proteins from Abcam (SLC26A4)
Human Recombinant Proteins from Abnova (SLC26A4)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0016020 membrane IEA--
GO:0016021 integral to membrane TAS10192399
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Antibodies for SLC26A4: 
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Antibodies from Abcam (SLC26A4), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (SLC26A4)
Novus Biologicals Antibodies for SLC26A4

Assays for SLC26A4: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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4 InterPro domains/families:
 IPR002645 SO4_transptr/STAS
 IPR018045 S04_transporter_CS
 IPR001902 SulP_transpt
 IPR011547 Sulph_transpt


   GeneDecks  SLC26A4 for the domains selected above  
About GeneDecksing

Graphical View of Domain Structure for InterPro Entry O43511

ProtoNet protein and cluster: O43511

1 Blocks protein family: IPB001902 Sulphate transporter

UniProtKB/Swiss-Prot: S26A4_HUMAN, O43511
Similarity: Belongs to the SLC26A/SulP transporter (TC 2.A.53) family
Similarity: Contains 1 STAS domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (SLC26A4)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (SLC26A4)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000441

              Applied Biosystems Silencer® siRNAs for SLC26A4

              Sigma-Aldrich siRNA and siRNA Panels for SLC26A4  
                     Sigma-Aldrich shRNA for SLC26A4  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Browse Clone Ranger at Invitrogen for clones
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000441
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000441
                                 untagged cDNA clone in CMV expression vector: NM_000441 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_000441

UniProtKB/Swiss-Prot: S26A4_HUMAN, O43511
Function: Sodium-independent transporter of chloride and iodide

7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Slc26a4):

behavior/neurologicalendocrine/exocrine glandhearing/vestibular/earhomeostasis/metabolismnervous system
pigmentationreproductive system

5 Gene Ontology (GO) molecular function terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005215 transporter activity IEA--
GO:0008271 secondary active sulfate transmembrane transporter activity IEA--
GO:0015108 chloride transmembrane transporter activity TAS10192399
GO:0015111 iodide transmembrane transporter activity TAS10192399
GO:0031404 chloride ion binding IEA--
About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section


 Gene Network CentralTM Interacting Genes and Proteins Network for  SLC26A4 


5/15 Interacting proteins for SLC26A4 (ENSP000002657153) via UniProtKB, MINT, and/or STRING (see all 15 )
InteractantInteraction Details
GeneCardExternal ID(s)
FOXI1ENSP000003042863STRING (score=.99)
MPZL2ENSP000002789373STRING (score=.958)
SLC5A5ENSP000002222483STRING (score=.953)
TGENSP000002206163STRING (score=.945)
TPOENSP000003298693STRING (score=.945)
About this table

3 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0006810 transport IEA--
GO:0007605 sensory perception of sound TAS9398842 10192399
GO:0008272 sulfate transport TAS9398842
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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
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Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for SLC26A4
10/16 Novoseek chemical compound relationships for SLC26A4 gene (see all 16 )
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
iodide 91.65 134 14715652 (9), 15155570 (5), 11932316 (3), 19196800 (3) (see all 53)
sodium iodide 84.99 21 19050049 (2), 11575851 (2), 11932316 (1), 19014326 (1) (see all 12)
perchlorate 82.49 9 15279074 (3), 10602116 (1), 17697873 (1), 11700190 (1) (see all 6)
iodine 71.11 12 18283249 (2), 15858240 (1), 17940114 (1), 9920104 (1) (see all 6)
chloride 65.05 65 15155570 (5), 10644529 (4), 16260428 (3), 16914891 (2) (see all 30)
sulfate 55.72 26 10192399 (4), 10803474 (4), 9398842 (3), 11573133 (1) (see all 12)
sodium 47.55 19 11454507 (2), 11720877 (2), 16042141 (1), 17381352 (1) (see all 13)
bicarbonate 37.31 11 11274445 (3), 15720248 (1), 18322141 (1), 11919333 (1) (see all 6)
thiocyanate 26.38 1 17404297 (1)
oxalate 24.08 1 15720248 (1)
About this table


(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (SLC26A4)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (SLC26A4)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000441

              Sigma-Aldrich siRNA and siRNA Panels for SLC26A4  
                     Sigma-Aldrich shRNA for SLC26A4  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_000441  

REFSEQ mRNAs for SLC26A4 gene: 

NM_000441.1   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_000441  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000441
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000441
                                 untagged cDNA clone in CMV expression vector: NM_000441 

Additional cDNA sequence: 

AF030880.1 AK294388.1 AK298543.1 AK300604.1 

2 DOTS entries:

DT.408690  DT.102821049 

19 AceView cDNA sequences:

CA945256 AF030880 AI139968 NM_000441 BX486815 AI695233 BX953700 BX487622 
BG718763 AI286141 CB986316 AA385554 AU117234 AU144128 AA897348 AA653057 
H23053 AW891838 BI005285 

highest scoring ESTs for SLC26A4:

AF030880 AA385554 AA653057 AI139968 AI695233 AU117234 AU144128 AW891838 BX487622 CA945256 

Unigene Cluster for SLC26A4:

Solute carrier family 26, member 4
Hs.571246  [show with all ESTs]
Unigene Representative Sequence: NM_000441


GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:
ENST00000265715  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

SLC26A4 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for SLC26A4

1 / 2 / 3

3 probe-sets matching SLC26A4 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

36376_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 AF030880 1.00 1.00 1.00 1

206529_x_at2, 3 U133-A 29 1.00 0.91 -- -- NM_000441 0.60 1.00 0.82 1

206529_x_at2 U133Plus2 29 1.00 0.91 -- -- -- -- -- -- --
About this table
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.571246

Expression variation in blood from EXPOLDB for SLC26A4

UniProtKB/Swiss-Prot: S26A4_HUMAN, O43511
Tissue specificity: High expression in adult thyroid, lower expression in adult and fetal kidney
and fetal brain. Not expressed in other tissues

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for SLC26A4 gene from 5/11 species (see all 11 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
SLC26A41   -- solute carrier family 26, member 4 88.7(n)
89.99(a)
483263  XM_540382.2  XP_540382.2 
chimpanzee
(Pan troglodytes)
SLC26A41   -- solute carrier family 26, member 4 99.27(n)
99.1(a)
463654  XM_519308.2  XP_519308.2 
cow
(Bos taurus)
SLC26A41   -- solute carrier family 26, member 4 88.66(n)
88.75(a)
530241  XM_608706.3  XP_608706.3 
rat
(Rattus norvegicus)
Slc26a41   -- solute carrier family 26, member 4 85.04(n)
88.72(a)
29440  NM_019214.1  NP_062087.1 
mouse
(Mus musculus)
Slc26a41, 5 12 (15.00 cM)5
solute carrier family 26, member 41, 5 85.43(n)1
87.56(a)1
239851  NM_011867.21  NP_035997.11 
 AF1674115  BC1409955 
About this table        Species with no ortholog for SLC26A4

ENSEMBL Gene Tree for SLC26A4
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for SLC26A4 gene
SLC26A92  SLC26A32  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/94 NCBI SNPs in SLC26A4 are shown (see all 94 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 119)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 7 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs27122181,2
C,F,H,O107143995(-) ATTTTC/TACTCA 1 -- ut3113Minor allele frequency- N:0.00EU EA WA NA 2514
rs171543531,2
C,F,H107137863(+) GTCAAG/AGTTCC 1 S/G mis111Minor allele frequency- A:0.01NA EU EA WA 978
rs171543351,2
C,F,H107129530(+) TGCTGT/GTTCAA 1 G/V mis1 ese312Minor allele frequency- G:0.24NA EU EA WA 1056
rs355484131,2
C,F107132036(+) GAATTG/TATGTG 1 D/Y mis15Minor allele frequency- T:0.01NA EU EA WA 470
rs27122051,2
H107144644(-) GAATTC/GAGGAT 1 -- ut31 ese34Minor allele frequency- G:0.00EU EA WA 410
rs171543471,2
C,F,H107137775(+) TTTGAC/TGACAA 1 D/D syn1 ese38Minor allele frequency- T:0.02NA EU EA WA 636
rs9829151,2
A,C,F,H,O107127147(+) GGAGGA/GTCAGT 1 -- int113Minor allele frequency- G:0.24NA EA MN EU WA 981
rs9826631,2
A,C,F,H,O107131269(+) GTTCAG/ATGAAT 1 -- int116Minor allele frequency- A:0.48NA EA MN EU WA 1456
rs64661781,2
A,C,F,H107135032(+) ttccaT/Acgaat 1 -- int17Minor allele frequency- A:0.42EU EA WA NA 556
rs27122081,2
A,C,F,H107130998(-) AGTCAG/CCTTTA 1 -- int14Minor allele frequency- C:0.20EU EA WA 420
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HapMap Linkage Disequilibrium images for SLC26A4 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 605646   disorders: 274600  600791  

UniProtKB/Swiss-Prot: S26A4_HUMAN, O43511

  • Defects in SLC26A4 are a cause of Pendred syndrome (PDS) [MIM:274600]. PDS is an autosomal
    recessive disorder characterized by congenital sensorineural hearing loss combined 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
  • Defects in SLC26A4 are the cause of non-syndromic sensorineural deafness autosomal
    recessive type 4 (DFNB4) [MIM:600791]; also known as vestibular aqueduct syndrome (EVA). DFNB4 is
    a form of 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
  • 10/34 Novoseek disease relationships for SLC26A4 gene (see all 34 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    pendred syndrome 99.18 149 9920104 (4), 12788906 (4), 11573133 (3), 10037079 (3) (see all 80)
    dfnb4 93.93 11 18285825 (2), 10861298 (2), 10868226 (1), 11101839 (1) (see all 8)
    enlarged vestibular aqueduct syndrome 92.11 5 17886676 (1), 10861298 (1), 11905055 (1), 18067822 (1)
    goiter 87.97 30 9920104 (3), 16914891 (2), 15279074 (2), 16791000 (2) (see all 20)
    ear malformation 86.97 26 18167283 (2), 19040761 (2), 18538122 (1), 18585793 (1) (see all 7)
    hearing loss sensorineural 84.90 22 16914891 (2), 11919333 (2), 18067822 (2), 18641518 (1) (see all 13)
    deafness sensorineural 83.93 5 19196800 (1), 17659500 (1), 15279074 (1), 12642503 (1)
    congenital deafness 83.24 7 17886676 (2), 10602116 (1), 10644505 (1), 18051563 (1) (see all 5)
    goiter congenital 68.34 1 16042141 (1)
    diastrophic dysplasia 66.79 2 10192399 (1), 11834742 (1)
    About this table

    GeneTests: SLC26A4
    Pendred Syndrome/DFNB4

    Human Gene Mutation Database: SLC26A4
    Genetic Association Database: SLC26A4
    Human Genome Epidemiology Navigator: SLC26A4 (23 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/203 PubMed articles for SLC26A4 gene (see all 203 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 5172 HGNC: 8818 AceView: SLC26A4 Ensembl:ENSG00000091137 euGenes: HUgn5172
    ECgene: SLC26A4 H-InvDB: SLC26A4
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    Hereditary hearing loss homepagehttp://webhost.ua.ac.be/hhh/
    GeneReviewshttp://www.genetests.org/query?gene=SLC26A4
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=S&genename=SLC26A4+%40+PDS
    Wikipedia http://en.wikipedia.org/wiki/Pendrin
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for SLC26A4:
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