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Aliases for SLC26A3 Gene

Aliases for SLC26A3 Gene

  • Solute Carrier Family 26 Member 3 2 3 4
  • Solute Carrier Family 26 (Anion Exchanger), Member 3 2 3 5
  • Solute Carrier Family 26, Member 3 2 3
  • DRA 3 4
  • Down-Regulated In Adenoma Protein 3
  • Congenital Chloride Diarrhea 2
  • Down-Regulated In Adenoma 4
  • Protein DRA 4
  • CLD 3

External Ids for SLC26A3 Gene

Previous HGNC Symbols for SLC26A3 Gene

  • DRA
  • CLD

Previous GeneCards Identifiers for SLC26A3 Gene

  • GC07M105889
  • GC07M106952
  • GC07M106966
  • GC07M106951
  • GC07M106999
  • GC07M107193
  • GC07M107405
  • GC07M101768

Summaries for SLC26A3 Gene

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 Member 3) is a Protein Coding gene. Diseases associated with SLC26A3 include Diarrhea 1, Secretory Chloride, Congenital and Congenital Chloride Diarrhea. Among its related pathways are Pancreatic secretion and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription cofactor activity. An important paralog of this gene is SLC26A2.

UniProtKB/Swiss-Prot for SLC26A3 Gene

  • Chloride/bicarbonate exchanger. Mediates the efficient absorption of chloride ions in the colon, participating in fluid homeostasis. Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation.

Gene Wiki entry for SLC26A3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC26A3 Gene

Genomics for SLC26A3 Gene

Regulatory Elements for SLC26A3 Gene

Enhancers for SLC26A3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SLC26A3 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC26A3 Gene

Chromosome:
7
Start:
107,765,467 bp from pter
End:
107,803,233 bp from pter
Size:
37,767 bases
Orientation:
Minus strand

Genomic View for SLC26A3 Gene

Genes around SLC26A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC26A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC26A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC26A3 Gene

Proteins for SLC26A3 Gene

  • Protein details for SLC26A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P40879-S26A3_HUMAN
    Recommended name:
    Chloride anion exchanger
    Protein Accession:
    P40879

    Protein attributes for SLC26A3 Gene

    Size:
    764 amino acids
    Molecular mass:
    84505 Da
    Quaternary structure:
    • Interacts with CFTR, SLC26A6 and SLC9A3R1 (By similarity). Interacts with PDZK1.

neXtProt entry for SLC26A3 Gene

Proteomics data for SLC26A3 Gene at MOPED

Post-translational modifications for SLC26A3 Gene

  • N-glycosylation is required for efficient cell surface expression, and protection from proteolytic degradation.
  • Glycosylation at Asn 153, Asn 161, and Asn 165
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC26A3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC26A3 Gene

Domains & Families for SLC26A3 Gene

Gene Families for SLC26A3 Gene

HGNC:
IUPHAR :

Protein Domains for SLC26A3 Gene

Suggested Antigen Peptide Sequences for SLC26A3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P40879

UniProtKB/Swiss-Prot:

S26A3_HUMAN :
  • Contains 1 STAS domain.
  • Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.
Domain:
  • Contains 1 STAS domain.
Family:
  • Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.
genes like me logo Genes that share domains with SLC26A3: view

Function for SLC26A3 Gene

Molecular function for SLC26A3 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot Function:
Chloride/bicarbonate exchanger. Mediates the efficient absorption of chloride ions in the colon, participating in fluid homeostasis. Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation.

Gene Ontology (GO) - Molecular Function for SLC26A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity TAS 8896562
GO:0005254 chloride channel activity IBA --
GO:0005515 protein binding IEA,IPI 12369822
GO:0015116 sulfate transmembrane transporter activity IEA,IBA --
GO:0019531 oxalate transmembrane transporter activity IBA --
genes like me logo Genes that share ontologies with SLC26A3: view
genes like me logo Genes that share phenotypes with SLC26A3: view

Human Phenotype Ontology for SLC26A3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC26A3 Gene

MGI Knock Outs for SLC26A3:

Animal Model Products

miRNA for SLC26A3 Gene

miRTarBase miRNAs that target SLC26A3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC26A3 Gene

Localization for SLC26A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC26A3 Gene

Apical cell membrane; Multi-pass membrane protein. Membrane; Multi-pass membrane protein. Note=Localized in sperm membranes. Midpiece of sperm tail. Colocalizes with CFTR at the midpiece of sperm tail (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC26A3 Gene COMPARTMENTS Subcellular localization image for SLC26A3 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for SLC26A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA,ISS --
genes like me logo Genes that share ontologies with SLC26A3: view

Pathways & Interactions for SLC26A3 Gene

genes like me logo Genes that share pathways with SLC26A3: view

Gene Ontology (GO) - Biological Process for SLC26A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated TAS 7683425
GO:0006820 anion transport TAS 9554749
GO:0006821 chloride transport IEA --
GO:0007588 excretion TAS 8896562
GO:0015701 bicarbonate transport IEA,IBA --
genes like me logo Genes that share ontologies with SLC26A3: view

No data available for SIGNOR curated interactions for SLC26A3 Gene

Drugs & Compounds for SLC26A3 Gene

(6) Additional Compounds for SLC26A3 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
Hydrogen carbonate
  • Bicarbonate
  • Bicarbonate (HCO3-)
  • Bicarbonate anion
  • Bicarbonate ion
  • Bicarbonate ion (HCO31-)
71-52-3
genes like me logo Genes that share compounds with SLC26A3: view

Transcripts for SLC26A3 Gene

Unigene Clusters for SLC26A3 Gene

Solute carrier family 26, member 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC26A3 Gene

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: -

Relevant External Links for SLC26A3 Gene

GeneLoc Exon Structure for
SLC26A3
ECgene alternative splicing isoforms for
SLC26A3

Expression for SLC26A3 Gene

mRNA expression in normal human tissues for SLC26A3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC26A3 Gene

This gene is overexpressed in Colon - Transverse (x46.5).

Protein differential expression in normal tissues from HIPED for SLC26A3 Gene

This gene is overexpressed in Rectum (33.8), Colon (24.5), and Islet of Langerhans (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC26A3 Gene



SOURCE GeneReport for Unigene cluster for SLC26A3 Gene Hs.1650

genes like me logo Genes that share expression patterns with SLC26A3: view

Protein tissue co-expression partners for SLC26A3 Gene

- Elite partner

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for SLC26A3 Gene

Orthologs for SLC26A3 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC26A3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC26A3 35
  • 85.2 (n)
  • 80.85 (a)
SLC26A3 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC26A3 35
  • 82.21 (n)
  • 80.76 (a)
SLC26A3 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc26a3 35
  • 82.25 (n)
  • 80.98 (a)
Slc26a3 16
Slc26a3 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC26A3 35
  • 98.51 (n)
  • 97.77 (a)
SLC26A3 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc26a3 35
  • 81.64 (n)
  • 81.51 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC26A3 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 73 (a)
OneToMany
-- 36
  • 64 (a)
OneToMany
chicken
(Gallus gallus)
Aves SLC26A3 35
  • 66.58 (n)
  • 64.32 (a)
SLC26A3 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC26A3 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101731072 35
  • 66.58 (n)
  • 66.26 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24628 35
zebrafish
(Danio rerio)
Actinopterygii si:dkey-31f5.1 35
  • 60.84 (n)
  • 59.1 (a)
slc26a3 36
  • 54 (a)
OneToMany
SLC26A3 (1 of 2) 36
  • 55 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F14D12.5 37
  • 31 (a)
K12G11.1 37
  • 29 (a)
K12G11.2 37
  • 30 (a)
W01B11.2 37
  • 32 (a)
W04G3.6 37
  • 35 (a)
ZK287.2 37
  • 33 (a)
sulp-6 35
  • 45.81 (n)
  • 32.78 (a)
Species with no ortholog for SLC26A3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC26A3 Gene

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

Paralogs for SLC26A3 Gene

genes like me logo Genes that share paralogs with SLC26A3: view

Variants for SLC26A3 Gene

Sequence variations from dbSNP and Humsavar for SLC26A3 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
VAR_007428 Diarrhea 1, secretory chloride, congenital (DIAR1)
VAR_007429 Diarrhea 1, secretory chloride, congenital (DIAR1)
VAR_007430 Diarrhea 1, secretory chloride, congenital (DIAR1)
rs34407351 - 107,786,877(+) AAGTC(A/C)CAGCC reference, missense
VAR_012777 Diarrhea 1, secretory chloride, congenital (DIAR1)

Structural Variations from Database of Genomic Variants (DGV) for SLC26A3 Gene

Variant ID Type Subtype PubMed ID
esv2734989 CNV Deletion 23290073
esv2734990 CNV Deletion 23290073
esv5282 CNV Deletion 18987735
esv1189776 CNV Deletion 17803354
esv2734991 CNV Deletion 23290073
esv2556506 CNV Deletion 19546169
nsv5893 CNV Insertion 18451855

Variation tolerance for SLC26A3 Gene

Residual Variation Intolerance Score: 34.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.71; 66.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC26A3 Gene

Human Gene Mutation Database (HGMD)
SLC26A3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC26A3 Gene

Disorders for SLC26A3 Gene

MalaCards: The human disease database

(11) MalaCards diseases for SLC26A3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
diarrhea 1, secretory chloride, congenital
  • congenital chloride diarrhea
congenital chloride diarrhea
  • diarrhea 1, secretory chloride, congenital
diarrhea
  • diarrhea of presumed infectious origin
spermatocele
diastrophic dysplasia
  • diastrophic dysplasia, broad bone-platyspondylic variant
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

S26A3_HUMAN
  • 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. {ECO:0000269 PubMed:11524734, ECO:0000269 PubMed:19861545, ECO:0000269 PubMed:21150650, ECO:0000269 PubMed:21394828, ECO:0000269 PubMed:8896562, ECO:0000269 PubMed:9554749, ECO:0000269 PubMed:9718329}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC26A3

Genetic Association Database (GAD)
SLC26A3
Human Genome Epidemiology (HuGE) Navigator
SLC26A3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC26A3
genes like me logo Genes that share disorders with SLC26A3: view

No data available for Genatlas for SLC26A3 Gene

Publications for SLC26A3 Gene

  1. Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea. (PMID: 11524734) Hoeglund P. … Kere J. (Hum. Mutat. 2001) 3 4 23 67
  2. Mechanisms of transcriptional modulation of the human anion exchanger SLC26A3 gene expression by IFN-{gamma}. (PMID: 19940027) Saksena S. … Dudeja P.K. (Am. J. Physiol. Gastrointest. Liver Physiol. 2010) 3 23
  3. Functional coupling of the downregulated in adenoma Cl-/base exchanger DRA and the apical Na+/H+ exchangers NHE2 and NHE3. (PMID: 19056765) Musch M.W. … Chang E.B. (Am. J. Physiol. Gastrointest. Liver Physiol. 2009) 3 23
  4. Congenital chloride-losing diarrhea causing mutations in the STAS domain result in misfolding and mistrafficking of SLC26A3. (PMID: 18216024) Dorwart M.R. … Thomas P.J. (J. Biol. Chem. 2008) 3 23
  5. Expression of SLC26A3, CFTR and NHE3 in the human male reproductive tract: role in male subfertility caused by congenital chloride diarrhoea. (PMID: 16421216) Hihnala S. … HAPglund P. (Mol. Hum. Reprod. 2006) 3 23

Products for SLC26A3 Gene

Sources for SLC26A3 Gene

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