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

Gene ID: 1811, updated on 17-Jun-2019

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
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

Genomic context

See SLC26A3 in Genome Data Viewer
Location:
7q22.3-q31.1
Exon count:
21
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (107765467..107803233, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (107405912..107443678, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene SLC26A4 antisense RNA 1 Neighboring gene solute carrier family 26 member 4 Neighboring gene uncharacterized LOC101927974 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 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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

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

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Mineral absorption, organism-specific biosystem (from KEGG)
    Mineral absorption, organism-specific biosystemMinerals are one of the five fundamental groups of nutrients needed to sustain life. Of the minerals, calcium plays innumerable roles in our bodies, serving as a main component of bone as well as an ...
  • Mineral absorption, conserved biosystem (from KEGG)
    Mineral absorption, conserved biosystemMinerals are one of the five fundamental groups of nutrients needed to sustain life. Of the minerals, calcium plays innumerable roles in our bodies, serving as a main component of bone as well as an ...
  • Multifunctional anion exchangers, organism-specific biosystem (from REACTOME)
    Multifunctional anion exchangers, organism-specific biosystemThe human SLC26 gene family consists of eleven members which encode multifunctional anion exchangers.These exchangers are capable of transporting a variety of anions such as sulphate, bicarbonate, ox...
  • Pancreatic secretion, organism-specific biosystem (from KEGG)
    Pancreatic secretion, organism-specific biosystemThe pancreas performs both exocrine and endocrine functions. The exocrine pancreas consists of two parts, the acinar and duct cells. The primary functions of pancreatic acinar cells are to synthesiz...
  • Pancreatic secretion, conserved biosystem (from KEGG)
    Pancreatic secretion, conserved biosystemThe pancreas performs both exocrine and endocrine functions. The exocrine pancreas consists of two parts, the acinar and duct cells. The primary functions of pancreatic acinar cells are to synthesiz...
  • SLC-mediated transmembrane transport, organism-specific biosystem (from REACTOME)
    SLC-mediated transmembrane transport, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP-powered pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to power the m...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
  • Transport of inorganic cations/anions and amino acids/oligopeptides, organism-specific biosystem (from REACTOME)
    Transport of inorganic cations/anions and amino acids/oligopeptides, organism-specific biosystemTeleologically, one might argue that inorganic cation and anion transport would be evolutionarily among the oldest transport functions. Eight families comprise the group that transports exclusively i...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
anion:anion antiporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bicarbonate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bicarbonate transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
chloride transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chloride transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
oxalate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
secondary active sulfate transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
sulfate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription coregulator activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
anion transport TAS
Traceable Author Statement
more info
PubMed 
bicarbonate transport IEA
Inferred from Electronic Annotation
more info
 
cellular response to cAMP ISS
Inferred from Sequence or Structural Similarity
more info
 
chloride transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
excretion TAS
Traceable Author Statement
more info
PubMed 
intracellular pH elevation ISS
Inferred from Sequence or Structural Similarity
more info
 
ion transport TAS
Traceable Author Statement
more info
 
membrane hyperpolarization ISS
Inferred from Sequence or Structural Similarity
more info
 
oxalate transport IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
sperm capacitation ISS
Inferred from Sequence or Structural Similarity
more info
 
sulfate transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
brush border membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
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)

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_000111.2NP_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
    Related
    ENSP00000345873.5, ENST00000340010.9
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    107765467..107803233 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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