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

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: mouse all
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Genomic context

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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Congenital chloride diarrhoea in a Chinese infant with a compound heterozygous SLC26A3 mutation.
Title: Congenital chloride diarrhoea in a Chinese infant with a compound heterozygous SLC26A3 mutation.
SLC26A3 (DRA) is stimulated in a synergistic, intracellular Ca[2+]-dependent manner by cAMP and ATP in intestinal epithelial cells.
Title: SLC26A3 (DRA) is stimulated in a synergistic, intracellular Ca(2+)-dependent manner by cAMP and ATP in intestinal epithelial cells.
The rs12532734 Polymorphism Near the Solute Carrier 26A3 Gene Locus Is Associated With Gallstone Disease in Children.
Title: The rs12532734 Polymorphism Near the Solute Carrier 26A3 Gene Locus Is Associated With Gallstone Disease in Children.
Slc26a3 (DRA) in the Gut: Expression, Function, Regulation, Role in Infectious Diarrhea and Inflammatory Bowel Disease.
Title: Slc26a3 (DRA) in the Gut: Expression, Function, Regulation, Role in Infectious Diarrhea and Inflammatory Bowel Disease.
Segmental differences in Slc26a3-dependent Cl(-) absorption and HCO3(-) secretion in the mouse large intestine in vitro in Ussing chambers.
Title: Segmental differences in Slc26a3-dependent Cl(-) absorption and HCO(3)(-) secretion in the mouse large intestine in vitro in Ussing chambers.
A Novel Role of SLC26A3 in the Maintenance of Intestinal Epithelial Barrier Integrity.
Title: A Novel Role of SLC26A3 in the Maintenance of Intestinal Epithelial Barrier Integrity.
All-trans Retinoic Acid Counteracts Diarrhea and Inhibition of Downregulated in Adenoma Expression in Gut Inflammation.
Title: All-trans Retinoic Acid Counteracts Diarrhea and Inhibition of Downregulated in Adenoma Expression in Gut Inflammation.
SNX27 directly interacts with DRA in early endosomes at the apical pole of intestinal Caco2 cells and mediates its direct recycling to facilitate high activity in lipid rafts in the apical plasma membrane.
Title: SNX27 regulates DRA activity and mediates its direct recycling by PDZ-interaction in early endosomes at the apical pole of Caco2 cells.
Genetic analysis of SLC26A3 provided definitive diagnosis of CCD. In contrast with previously reported localities, c.2063-1g>t might be a founder mutation in East Asia.
Title: Clinical Features, Molecular Genetics, and Long-Term Outcome in Congenital Chloride Diarrhea: A Nationwide Study in Japan.
Decreased SLC26A3 expression and function in intestinal epithelial cells in response to Cryptosporidium parvum infection has been reported in humans and mice.
Title: Decreased SLC26A3 expression and function in intestinal epithelial cells in response to Cryptosporidium parvum infection.

Submit: New GeneRIF Correction See all GeneRIFs (56)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. EBI GWAS Catalog EBI GWAS CatalogPubMed
Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-L02785 (e-PCR)
- UniSTS:23046

DRA (e-PCR)
- UniSTS:64527

D7S2740 (e-PCR)
- UniSTS:11004

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

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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

NG_008046.1 RefSeqGene

Range

5001..42767

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_683

mRNA and Protein(s)

NM_000111.3 → NP_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:526 → 712

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:376 → 432

AtpE; FoF1-type ATP synthase, membrane subunit c/Archaeal/vacuolar-type H+-ATPase, subunit K [Energy production and conversion]

pfam00916
Location:73 → 475

Sulfate_transp; Sulfate permease family