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    SLC26A3 solute carrier family 26 member 3 [ Homo sapiens (human) ]

    Gene ID: 1811, updated on 23-Nov-2023

    Summary

    Official Symbol
    SLC26A3provided by HGNC
    Official Full Name
    solute carrier family 26 member 3provided by HGNC
    Primary source
    HGNC:HGNC:3018
    See related
    Ensembl:ENSG00000091138 MIM:126650; AllianceGenome:HGNC:3018
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CLD; DRA
    Summary
    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]
    Expression
    Biased expression in colon (RPKM 709.1), duodenum (RPKM 299.0) and 1 other tissue See more
    Orthologs
    NEW
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    Genomic context

    See SLC26A3 in Genome Data Viewer
    Location:
    7q22.3-q31.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (107765469..107803223, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (109083905..109121574, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (107405914..107443668, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene SLC26A4 antisense RNA 1 Neighboring gene MPRA-validated peak6681 silencer Neighboring gene solute carrier family 26 member 4 Neighboring gene Sharpr-MPRA regulatory region 3291 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:107383176-107383695 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:107383696-107384214 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26495 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26496 Neighboring gene CBLL1 antisense RNA 1 Neighboring gene Cbl proto-oncogene like 1 Neighboring gene GFI1 motif-containing MPRA enhancer 278 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class C pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:107488127-107488847 Neighboring gene uncharacterized LOC105375444

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Congenital secretory diarrhea, chloride type
    MedGen: C0267662 OMIM: 214700 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog
    Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables bicarbonate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables bicarbonate transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables chloride transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables chloride transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables chloride:bicarbonate antiporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables oxalate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables secondary active sulfate transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables solute:inorganic anion antiporter activity TAS
    Traceable Author Statement
    more info
     
    enables sulfate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in bicarbonate transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to cAMP ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in chloride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular pH elevation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in membrane hyperpolarization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in monoatomic anion transport TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in monoatomic ion transport TAS
    Traceable Author Statement
    more info
     
    involved_in oxalate transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sperm capacitation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sulfate transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in brush border membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in sperm midpiece ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    chloride anion exchanger
    Names
    down-regulated in adenoma protein
    solute carrier family 26 (anion exchanger), member 3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008046.1 RefSeqGene

      Range
      5001..42767
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_683

    mRNA and Protein(s)

    1. NM_000111.3NP_000102.1  chloride anion exchanger

      See identical proteins and their annotated locations for NP_000102.1

      Status: REVIEWED

      Source sequence(s)
      AC002467, BC025671, BP262081
      Consensus CDS
      CCDS5748.1
      UniProtKB/Swiss-Prot
      P40879
      UniProtKB/TrEMBL
      Q6MZW7
      Related
      ENSP00000345873.5, ENST00000340010.10
      Conserved Domains (3) summary
      cd07042
      Location:526712
      STAS_SulP_like_sulfate_transporter; Sulphate Transporter and Anti-Sigma factor antagonist domain of SulP-like sulfate transporters, plays a role in the function and regulation of the transport activity, proposed general NTP binding function
      COG0636
      Location:376432
      AtpE; FoF1-type ATP synthase, membrane subunit c/Archaeal/vacuolar-type H+-ATPase, subunit K [Energy production and conversion]
      pfam00916
      Location:73475
      Sulfate_transp; Sulfate permease family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      107765469..107803223 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      109083905..109121574 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)