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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLC26A3 Gene

protein-coding   GIFtS: 65
GCID: GC07M107405

Solute Carrier Family 26 (Anion Exchanger), Member 3

(Previous names: congenital chloride diarrhea, solute carrier family 26,...)
(Previous symbols: DRA, CLD)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Solute Carrier Family 26 (Anion Exchanger), Member 31 2     Chloride Anion Exchanger2
DRA1 2 3 5     Down-Regulated In Adenoma Protein2
CLD1 2 5     Down-Regulated In Adenoma3
Solute Carrier Family 26, Member 31 2     Protein DRA3
Congenital Chloride Diarrhea1     Solute Carrier Family 26 Member 33

External Ids:    HGNC: 30181   Entrez Gene: 18112   Ensembl: ENSG000000911387   OMIM: 1266505   UniProtKB: P408793   

Export aliases for SLC26A3 gene to outside databases

Previous GC identifers: GC07M105889 GC07M106952 GC07M106966 GC07M106951 GC07M106999 GC07M107193 GC07M101768


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

Entrez Gene summary for SLC26A3 Gene:
The protein encoded by this gene is a transmembrane glycoprotein that transports chloride ions across the cell
membrane in exchange for bicarbonate ions. It is localized to the mucosa of the lower intestinal tract,
particularly to the apical membrane of columnar epithelium and some goblet cells. The protein is essential for
intestinal chloride absorption, and mutations in this gene have been associated with congenital chloride
diarrhea. (provided by RefSeq, Oct 2008)

GeneCards Summary for SLC26A3 Gene: 
SLC26A3 (solute carrier family 26 (anion exchanger), member 3) is a protein-coding gene. Diseases associated with SLC26A3 include diarrhea, and congenital chloride diarrhea, and among its related super-pathways are Transmembrane transport of small molecules and Amino acid and oligopeptide SLC transporters. GO annotations related to this gene include transcription cofactor activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is SLC26A9.

UniProtKB/Swiss-Prot: S26A3_HUMAN, P40879
Function: Chloride/bicarbonate exchanger. Mediates the efficient absorbtion of chloride ions in the colon,
participating in fluid homeostasis

Gene Wiki entry for SLC26A3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.2  NT_007933.15  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC26A3 gene promoter:
         TBP   AML1a   p53   Tal-1beta   PPAR-alpha   FAC1   TFIID   SEF-1 (1)   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): SLC26A3 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC26A3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC26A3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q31   Ensembl cytogenetic band:  7q31.1   HGNC cytogenetic band: 7q31

SLC26A3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC26A3 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M107405:  view genomic region     (about GC identifiers)

Start:
107,405,912 bp from pter      End:
107,443,678 bp from pter
Size:
37,767 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 106,767,027-106,804,797     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: S26A3_HUMAN, P40879 (See protein sequence)
Recommended Name: Chloride anion exchanger  
Size: 764 amino acids; 84505 Da
Subunit: Interacts with PDZK1
Subcellular location: Apical cell membrane; Multi-pass membrane protein
Developmental stage: Expression is significantly decreased in adenomas (polyps) and adenocarcinomas of the colon

Explore the universe of human proteins at neXtProt for SLC26A3: NX_P40879

Explore proteomics data for SLC26A3 at MOPED 

Post-translational modifications:

  • UniProtKB: N-glycosylation is required for efficient cell surface expression, and protection from proteolytic degradation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P40879

  • SLC26A3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC26A3 Protein Expression
    REFSEQ proteins: NP_000102.1  
    ENSEMBL proteins: 
     ENSP00000368375   ENSP00000345873   ENSP00000395955   ENSP00000415817  
    Reactome Protein details: P40879
    Human Recombinant Protein Products for SLC26A3: 
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    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ISS--
    GO:0016021integral to membrane IEA--
    GO:0016324apical plasma membrane IEA--
    GO:0031526brush border membrane IEA--

    SLC26A3 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: DRA 
    Chloride/bicarbonate exchangers

    4 InterPro protein domains:
     IPR002645 STAS_dom
     IPR018045 S04_transporter_CS
     IPR001902 SulP_transpt
     IPR011547 Sulph_transpt

    Graphical View of Domain Structure for InterPro Entry P40879

    ProtoNet protein and cluster: P40879

    1 Blocks protein domain: IPB001902 Sulphate transporter

    UniProtKB/Swiss-Prot: S26A3_HUMAN, P40879
    Similarity: Belongs to the SLC26A/SulP transporter (TC 2.A.53) family
    Similarity: Contains 1 STAS domain


    SLC26A3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: S26A3_HUMAN, P40879
    Function: Chloride/bicarbonate exchanger. Mediates the efficient absorbtion of chloride ions in the colon,
    participating in fluid homeostasis

         Genatlas biochemistry entry for SLC26A3:
    solute carrier family 26,member A3,sulfate transporter,Na+/sulfate cotransporter DIDs resistant from high
    endothelial venules,restrictively expressed,with hyperexpression in placenta,also expressed in transits

         Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity TAS7683425
    GO:0003712transcription cofactor activity TAS7683425
    GO:0005215transporter activity TAS8896562
    GO:0005515protein binding IPI12369822
    GO:0008271secondary active sulfate transmembrane transporter activity IEA--
         
    SLC26A3 for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc26a3):
     cellular  digestive/alimentary  endocrine/exocrine gland  growth/size  homeostasis/metabolism 
     mortality/aging 

    SLC26A3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Slc26a3tm1Sole for SLC26A3

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SLC26A3 
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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SLC26A3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport0.50
    Transmembrane transport of small molecules0.50
    2Amino acid and oligopeptide SLC transporters
    Transport of inorganic cations/anions and amino acids/oligopeptides0.52
    3Multifunctional anion exchangers
    Multifunctional anion exchangers
    4Mineral absorption
    Mineral absorption
    5Pancreatic secretion
    Pancreatic secretion

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4        Reactome Pathways for SLC26A3
        Multifunctional anion exchangers
    SLC-mediated transmembrane transport
    Transmembrane transport of small molecules
    Transport of inorganic cations/anions and amino acids/oligopeptides


    2         Kegg Pathways  (Kegg details for SLC26A3):
        Pancreatic secretion
    Mineral absorption


    SLC26A3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC26A3

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    4 Interacting proteins for SLC26A3 (P408792, 3 ENSP000003458734) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLC9A3R2Q155992, 3, ENSP000004080054MINT-1787249 MINT-1787327 MINT-1787222 MINT-1792121 MINT-1787290 I2D: score=2 STRING: ENSP00000408005
    SLC9A3R1O147453, ENSP000002626134I2D: score=1 STRING: ENSP00000262613
    CFTRP135693I2D: score=1 
    GEMIN2ENSP000003085334STRING: ENSP00000308533
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-dependent TAS7683425
    GO:0006811ion transport TAS--
    GO:0006820anion transport TAS9554749
    GO:0006821chloride transport ISS--
    GO:0007588excretion TAS8896562

    SLC26A3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SLC26A3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SLC26A3 (S26A3)

    2 HMDB Compounds for SLC26A3    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--
    Hydrogen carbonateBicarbonate (see all 19)71-52-3--

    4 Novoseek inferred chemical compound relationships for SLC26A3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    chloride 73 16 17256057 (1), 16641574 (1), 9843783 (1), 11682697 (1) (see all 10)
    sulfate 66.3 13 9473459 (4), 18216024 (1), 9886972 (1), 11231338 (1) (see all 6)
    bicarbonate 56 11 11875004 (4), 16641574 (1), 17120762 (1), 12442266 (1) (see all 5)
    nacl 37.6 2 19538314 (1), 19056765 (1)

    Search CenterWatch for drugs/clinical trials and news about SLC26A3 / S26A3

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SLC26A3 gene: 
    NM_000111.2  

    Unigene Cluster for SLC26A3:

    Solute carrier family 26, member 3
    Hs.1650  [show with all ESTs]
    Unigene Representative Sequence: BC025671
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000379083(uc003ves.2) ENST00000340010(uc003ver.2) ENST00000469651
    ENST00000468551 ENST00000453332 ENST00000422236
    miRNA
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    Additional mRNA sequence: 

    AK300651.1 BC025671.1 BX640837.1 L02785.1 

    5 DOTS entries:

    DT.407560  DT.101977360  DT.92019017  DT.100812035  DT.40231188 

    24/35 AceView cDNA sequences (see all 35):

    CD607624 NM_000111 BP383417 L02785 AI339538 BC025671 AU076470 CD607621 
    BX640837 BG952448 AI880421 BX479055 AU076819 BI766283 AW073266 BX089822 
    AA326909 AI793160 AI951486 BP382952 AA928419 AA631114 AI805046 BX479840 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for SLC26A3    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21
    SP1:                                                                                                                                                
    SP2:              -                                                                                                                                 


    ECgene alternative splicing isoforms for SLC26A3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SLC26A3 expression in normal human tissues (normalized intensities)      SLC26A3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CATAGGTTTA
    SLC26A3 Expression
    About this image


    SLC26A3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 2 entries
             small intestine   
     
     Colon (Gastrointestinal Tract)
             colonic mucosal (ibs)   
     
     Pancreas (Endocrine System)
             Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...
     
     Liver (Hepatobiliary System)
             Mature Mesothelial Cells Hepatic Mesenchyme

    See SLC26A3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC26A3

    SOURCE GeneReport for Unigene cluster: Hs.1650
        SABiosciences Custom PCR Arrays for SLC26A3
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC26A3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for SLC26A3 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc26a31 , 5 solute carrier family 26, member 31, 5 82.25(n)1
    80.98(a)1
      12 (13.45 cM)5
    134871  NM_021353.21  NP_067328.11 
     313908715 
    chicken
    (Gallus gallus)
    Aves SLC26A31 solute carrier family 26, member 3 66.58(n)
    64.32(a)
      417700  NM_001199444.1  NP_001186373.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC26A36
    Uncharacterized protein
    66(a)
    1 ↔ 1
    5(97651941-97684502)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.246282 Xenopus laevis transcribed sequence with weak similarity to protein pirA47456 (H.sapiens) A47456 down-regulated in adenoma (DRA) - human less 76.33(n)    CB206418.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-31f5.11 si:dkey-31f5.1 60.88(n)
    59.1(a)
      563896  NM_001040175.1  NP_001035265.1 


    ENSEMBL Gene Tree for SLC26A3 (if available)
    TreeFam Gene Tree for SLC26A3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC26A3 gene
    SLC26A92  SLC26A62  SLC26A12  SLC26A52  SLC26A112  SLC26A22  SLC26A102  SLC26A72  
    SLC26A42  SLC26A82  
    13 SIMAP similar genes for SLC26A3 using alignment to 5 protein entries:     S26A3_HUMAN (see all proteins):
    DKFZp686P10213    SLC26A4    SLC26A10    SLC26A11    SLC26A5    SLC26A2
    SLC26A6    SLC26A7    SLC26A9    PRES    SLC26A8    RESDA1
    SLC26A1

    SLC26A3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1053 SNPs in SLC26A3 are shown (see all 1053)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0074294
    Diarrhea 1, secretory chloride, congenital (DIAR1)4--see VAR_0074292 H L mis40--------
    VAR_0660754
    Diarrhea 1, secretory chloride, congenital (DIAR1)4--see VAR_0660752 D N mis40--------
    VAR_0127784
    Diarrhea 1, secretory chloride, congenital (DIAR1)4--see VAR_0127782 D V mis40--------
    VAR_0127774
    Diarrhea 1, secretory chloride, congenital (DIAR1)4--see VAR_0127772 S P mis40--------
    VAR_0660734
    Diarrhea 1, secretory chloride, congenital (DIAR1)4--see VAR_0660732 K N mis40--------
    VAR_0660634
    Diarrhea 1, secretory chloride, congenital (DIAR1)4--see VAR_0660632 P L mis40--------
    VAR_0660664
    Diarrhea 1, secretory chloride, congenital (DIAR1)4--see VAR_0660662 H P mis40--------
    VAR_0660674
    Diarrhea 1, secretory chloride, congenital (DIAR1)4--see VAR_0660672 C Y mis40--------
    VAR_0660654
    Diarrhea 1, secretory chloride, congenital (DIAR1)4--see VAR_0660652 Y D mis40--------
    VAR_0660624
    Diarrhea 1, secretory chloride, congenital (DIAR1)4--see VAR_0660622 P L mis40--------

    HapMap Linkage Disequilibrium report for SLC26A3 (107405912 - 107443678 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for SLC26A3:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2734990CNV Deletion23290073
    esv1189776CNV Deletion17803354
    esv2556506CNV Deletion19546169
    esv2734991CNV Deletion23290073
    esv5282CNV Deletion18987735
    esv2734989CNV Deletion23290073
    nsv5893CNV Insertion18451855


    Human Gene Mutation Database (HGMD): SLC26A3
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC26A3
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC26A3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 126650   
    OMIM disorders: 214700  
    UniProtKB/Swiss-Prot: S26A3_HUMAN, P40879
  • Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]: A disease characterized by voluminous
    watery stools containing an excess of chloride. The children with this disease are often premature. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 20/23 diseases for SLC26A3 (see all 23):    About MalaCards
    diarrhea    congenital chloride diarrhea    transverse colon cancer    chloride diarrhea, congenital, finnish type
    familial chloride diarrhea    spermatocele    adenoma    pendred syndrome
    diastrophic dysplasia    hartnup disease    carpal tunnel syndrome    polyhydramnios
    fainting    arthropathy    ulcerative colitis    cystic fibrosis
    amyloidosis    colon cancer    inflammatory bowel disease    tuberculosis

    4 diseases from the University of Copenhagen DISEASES database for SLC26A3:
    Diastrophic dysplasia     Diarrhea     Polyhydramnios     Cystic fibrosis

    SLC26A3 for disorders           About GeneDecksing

    9 Novoseek inferred disease relationships for SLC26A3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    spermatocele 84.7 1 16421216 (1)
    diastrophic dysplasia 83.2 3 17120758 (1), 10857479 (1), 11834742 (1)
    pendred syndrome 74 2 17120758 (1), 11834742 (1)
    adenoma 71.6 20 11302976 (1), 11496064 (1), 11875004 (1), 9843783 (1) (see all 15)
    metabolic alkalosis 67.2 1 19967661 (1)
    cystic fibrosis 36.2 5 16421216 (2), 18216024 (1), 19538314 (1), 12651923 (1)
    inflammatory bowel diseases 19 1 10857479 (1)
    adenocarcinoma 1.39 2 9473459 (1), 10857479 (1)
    inflammation 0 2 9843783 (2)

    Genetic Association Database (GAD): SLC26A3
    Human Genome Epidemiology (HuGE) Navigator: SLC26A3 (1 document)

    Export disorders for SLC26A3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SLC26A3 gene, integrated from 9 sources (see all 66):
    (articles sorted by number of sources associating them with SLC26A3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea. (PubMed id 11524734)1, 2, 9 Hoeglund P....Kere J. (2001)
    2. Role of N-glycosylation in cell surface expression and protection against proteolysis of the intestinal anion exchanger SLC26A3. (PubMed id 22159084)1, 2 Hayashi H. and Yamashita Y. (2012)
    3. Compound heterozygous mutations in the SLC26A3 gene i n 2 Spanish siblings with congenital chloride diarrhea. (PubMed id 21150650)1, 2 RodrA-guez-Herrera A....GutiAcrrez G. (2011)
    4. Update on SLC26A3 mutations in congenital chloride diarrhea. (PubMed id 21394828)1, 2 Wedenoja S....Kere J. (2011)
    5. Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. (PubMed id 19122664)1, 4 Silverberg M.S....Duerr R.H. (2009)
    6. A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population. (PubMed id 19915573)1, 4 Asano K....Kubo M. (2009)
    7. The CFTR associated protein CAP70 interacts with the apical Cl-/HCO3- exchanger DRA in rabbit small intestinal mucosa. (PubMed id 15766278)1, 2 Rossmann H.... Lamprecht G. (2005)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger. (PubMed id 11087667)1, 3 Lohi H....Kere J. (2000)
    10. Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene. (PubMed id 9554749)1, 2 Hoeglund P.... Kere J. (1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1811 HGNC: 3018 AceView: SLC26A3 Ensembl:ENSG00000091138 euGenes: HUgn1811
    ECgene: SLC26A3 Kegg: 1811 H-InvDB: SLC26A3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC26A3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SLC26A3 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC26A3

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SLC26A3 gene:
    Search GeneIP for patents involving SLC26A3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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