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

Gene ID: 1811, updated on 27-Nov-2024

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
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (107765469..107803223, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (109083905..109121574, complement)
RS_2024_09 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 IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
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
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
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)

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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_2024_08

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)