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Aliases & Descriptions for SLC26A4
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| 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 |
|
| | Search outside databases for aliases for SLC26A4 genePrevious GC identifers: GC07P105784 GC07P106847 GC07P106861 GC07P106895 |
Summaries for SLC26A4(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, O43511Function: Sodium-independent transporter of chloride and iodideGene Wiki entry for SLC26A4 (Pendrin) |
Genomic Location for SLC26A4
(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) About This Section
| 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: 7q31SLC26A4 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
| Proteins for SLC26A4
(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)
About This Section
| 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: O43170REFSEQ proteins: NP_000432.1
ENSEMBL proteins: ENSP00000265715
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
2 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for SLC26A4: Assays for SLC26A4: | Protein
Domains/ Families for SLC26A4(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - 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, O43511Similarity: Belongs to the SLC26A/SulP transporter (TC 2.A.53) familySimilarity: Contains 1 STAS domain | Gene Function for SLC26A4
(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.)
About This Section
|               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 
              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, O43511Function: Sodium-independent transporter of chloride and iodide7 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Slc26a4):
5 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for SLC26A4
(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
)About this table
3 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for SLC26A4(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)
About This Section
|
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
|
Transcripts for SLC26A4(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
|               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
|
Expression for SLC26A4
(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 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, O43511Tissue specificity: High expression in adult thyroid, lower expression in adult and fetal kidney and fetal brain. Not expressed in other tissues |
Orthologs for SLC26A4
(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
)
About this table Species with no ortholog for SLC26A4
ENSEMBL Gene Tree for SLC26A4 | Paralogs for SLC26A4(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for SLC26A4 gene
- SLC26A92 SLC26A32
|
SNPs/Variants for SLC26A4(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for SLC26A4 (up to first 250kb)
|
Disorders & Mutations for SLC26A4
(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 aqueduct10/34 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)
|
Medical News for SLC26A4(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for SLC26A4 (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
):- A novel mutation in the pendrin gene associated with Pendred's syndrome. (PubMed id 10718825)1, 3, 4, 6 Bogazzi F....Bartalena L. (2000)
- A mutation in PDS causes non-syndromic recessive deafness. (PubMed id 9500541)2, 3, 4 Li X.C.... Wilcox E.R. (1998)
- 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)1, 3, 4 Tsukamoto K.... Usami S. (2003)
- Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies. (PubMed id 11919333)1, 3, 4 Fugazzola L.... Beck-Peccoz P. (2002)
- Mutations in the SLC26A4 (pendrin) gene in patients with sensorineural deafness and enlarged vestibular aqueduct. (PubMed id 15279074)1, 3, 6 Bogazzi F....Martino E. (2004)
- Enlarged vestibular aqueduct: a radiological marker of Pendred syndrome, and mutation of the PDS gene. (PubMed id 10700480)1, 3, 4 Reardon W.... Phelps P.D. (2000)
- PDS is a new susceptibility gene to autoimmune thyroid diseases: association and linkage study. (PubMed id 12727986)1, 3, 6 Hadj Kacem H....Ayadi H. (2003)
- Mutations in the PDS gene in german families with Pendred's syndrome: V138F is a founder mutation. (PubMed id 12788906)1, 3, 4 Borck G.... Pohlenz J. (2003)
- 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)1, 3, 4 Taylor J.P.... Trembath R.C. (2002)
- Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation. (PubMed id 10602116)1, 3, 4 Masmoudi S.... Ayadi M. (2000)
|
Search for SLC26A4
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing SLC26A4
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing SLC26A4
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SLC26A4(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
|
| Name | Description |
| Hereditary hearing loss homepage | http://webhost.ua.ac.be/hhh/ | | GeneReviews | http://www.genetests.org/query?gene=SLC26A4 | | SHMPD | http://shmpd.bii.a-star.edu.sg/gene.php?genestart=S&genename=SLC26A4+%40+PDS | | Wikipedia | http://en.wikipedia.org/wiki/Pendrin |
|
| | | About This Section
| --
| Services for SLC26A4(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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Incremental update: 13 Oct 2009
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