SLC26A3 - solute carrier family 26 member 3 Gene

Also Known as CLD; DRA

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1811

About SLC26A3

Cytogenetic location: 7q22.3-q31.1 Genomic coordinates (GRCh38): 7:107,765,469-107,803,223 (from NCBI)

This gene has 5 transcripts (splice variants), 252 orthologues, 9 paralogues and is associated with 2 phenotypes. Biased expression in colon (RPKM 709.1), duodenum (RPKM 299.0) and 1 other tissue.

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]

SLC26A3 Products (1)

mRNA	Protein	Name
NM_000111.3	NP_000102.1	chloride anion exchanger

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables chloride:bicarbonate antiporter activity	IDA IDA: Inferred from direct assay	16606687	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12369822	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	19321737	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC26A3 Protein Structure

Sulfate_transp

STAS

0
200
400
600
764 a.a.

Protein Preferred Names	Protein Names
chloride anion exchanger	down-regulated in adenoma protein

SLC26A3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	SLC26A3	P40879	NHERF2	Homo sapiens	Q15599	Pull Down	12369822
Intra	SLC26A3	P40879	NHERF2	Homo sapiens	Q15599	ELISA	12369822

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Diarrhea 1, Secretory Chloride, Congenital	DIAR1 Chloride Diarrhea, Congenital, Finnish Type Congenital Secretory Chloride Diarrhea 1 Congenital Chloride Diarrhea Finnish Type Congenital Chloride Diarrhea Chloridorrhea, Congenital Congenital Chloride Diarrhoea Finnish Type Congenital Chloridorrhea Congenital Secretory Chloride Diarrhoea 1 Chloridorrhea Congenital Cld Diarrhea 1 Secretory Chloride Congenital Diarrhea, Type 1, Chloride, Secretory, Congenital
Congenital Chloride Diarrhea	Familial Chloride Diarrhea Chloride Diarrhea, Congenital, Finnish Type Diarrhea 1 Cld Chloridorrhea, Congenital Congenital Chloridorrhea Diar1 Darrow-Gamble Disease Diarrhea 1, Secretory Chloride, Congenital
Intestinal Obstruction	Inspissated Milk Syndrome Milk Curd Syndrome
Polyhydramnios
Hydrops Fetalis, Nonimmune	Hydrops Fetalis Non-Immune Hydrops Fetalis NIHF Familial Non-Immune Hydrops Fetalis Hydrops Fetalis Nonimmune Idiopathic Hydrops Fetalis Hb Bart'S Hydrops Fetalis Alpha-Thalassemia Hydrops Fetalis Alpha-Thalassemia Major Hemoglobin Bart'S Hydrops Fetalis Homozygous Alpha0-Thalassemia Fetal Anasarca Fetal Hydrops Generalized Fetal Edema Hf Non-Immune Hf Non-Immune Fetal Edema Non-Immune Fetal Hydrops Hydrops Fetalis, Non-Immune Hemoglobin Bart'S Hydrops Syndrome
Diarrhea	Diarrhoea Diarrhea Of Presumed Infectious Origin
Adenoma	Acinar Cell Adenoma Adenomas Acinic Cell Adenoma
Spermatocele
Colon Adenoma	Adenomatous Polyp Of Colon
Diastrophic Dysplasia	Diastrophic Dwarfism DTD Dd Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant Dysplasia, Diastrophic Diastrophic Dysplasia Variant
Pendred Syndrome	Goiter-Deafness Syndrome Deafness With Goiter PDS Thyroid Dyshormonogenesis 2b Tdh2b Autosomal Recessive Sensorineural Hearing Impairment And Goiter Pendred'S Syndrome Thyroid Hormonogenesis, Genetic Defect In, 2b Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b Congenital Hypothyroidism Due To Dyshormonogenesis 2b Genetic Defect In Thyroid Hormonogenesis 2b Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter Goiter-Hearing Loss Syndrome Goitre-Deafness Syndrome Goitre Deafness
Orbital Tenonitis	Tenonitis
Inflammatory Diarrhea
Dialysis-Related Amyloidosis	Abeta2m Amyloidosis Amyloidosis Beta2m Beta2-Microglobulinic Amyloidosis Variant Abeta2m Amyloidosis Autosomal Dominant Beta2-Microglobulinic Amyloidosis Aβ2m Amyloidosis Dialysis-Related Beta2-Microglobulin Amyloidosis Amyloidosis Dialysis-Related Beta-2-Microglobulin Amyloidosis Dra Hemodialysis-Associated Amyloidosis
Secretory Diarrhea
Osmotic Diarrhea
Lactase Deficiency, Congenital	Congenital Lactase Deficiency Disaccharide Intolerance Ii Congenital Alactasia Congenital Alactasia Syndrome Congenital Lactose Intolerance Congenital Lactose Malabsorption Hereditary Alactasia Alactasia, Congenital Cld COLACD Disaccharide Intolerance Type 2 Cld - [Congenital Lactase Deficiency] Disaccharide Intolerance 2 Lactose Intolerance Of Newborn Hereditary Lactase Deficiency
Diarrhea 8, Secretory Sodium, Congenital	Congenital Secretory Sodium Diarrhea 8 DIAR8 Diarrhea, Congenital Sodium Csd Congenital Secretory Diarrhea, Sodium Type
Bartter Disease	Bartter Syndrome Bartter'S Syndrome Aldosteronism With Hyperplasia Of The Adrenal Cortex Hypokalemic Alkalosis With Hypercalciuria Potassium Wasting Juxtaglomerular Hyperplasia With Secondary Aldosteronism Renal Tubular Normotensive Hypokalemic Alkalosis With Hypercalciuria Salt-Losing Tubular Disorder, Henle'S Loop Type Salt-Wasting Tubulopathy, Henle'S Loop Type Bartters Syndrome
Diarrhea 5, With Tufting Enteropathy, Congenital	Congenital Diarrhea 5 With Tufting Enteropathy Congenital Tufting Enteropathy DIAR5 Cte Intestinal Epithelial Cell Dysplasia Tufting Enteropathy Ied Intestinal Epithelial Dysplasia Enteropathy, Congenital Tufting Congenital Diarrhoea 5 With Tufting Enteropathy Congenital Familial Intractable Diarrhea With Epithelial Or Epithelium Abnormalities Congenital Familial Intractable Diarrhoea With Epithelial Or Epithelium Abnormalities Congenital Enteropathy Congenital Familial Intractable Diarrhea With Enterocytes Assembly Abnormalities Non-Syndromic Congenital Tufting Enteropathy Diarrhea, Type 5, With Tufting Enteropathy, Congenital Intestinal Intraepithelial Neoplasia
Postaxial Acrofacial Dysostosis	Miller Syndrome POADS Genee-Wiedemann Syndrome Postaxial Acrodysostosis Genee-Wiedemann Acrofacial Dysostosis Acrofacial Dysostosis, Genee-Wiedmann Type Mandibulfacial Dysostosis With Postaxial Limb Anomalies Gwafd Poads Syndrome Postaxial Acrofacial Dysostosis Syndrome Wildervanck-Smith Syndrome Acrofacial Dysostosis, Genee-Wiedemann Type Mandibulofacial Dysostosis With Postaxial Limb Anomalies Genée-Wiedemann Syndrome Chromosome 11p Deletion Syndrome
Intestinal Impaction
Congenital Diarrhea
Microvillus Inclusion Disease	Congenital Microvillous Atrophy Intractable Diarrhea Of Infancy Congenital Familial Protracted Diarrhea With Enterocyte Brush-Border Abnormalities Davidson Disease Microvillous Inclusion Disease Congenital Microvillus Atrophy Mvid Diarrhea 2 With Microvillus Atrophy Mvd Congenital Familial Protracted Diarrhea Davidson'S Disease Familial Enteropathy, Microvillus Microvillus Atrophy, Congenital Congenital Enteropathy Familial Protracted Enteropathy Microvillous Atrophy Microvillus Atrophy With Diarrhea 2 Idi
Inflammatory Bowel Disease	Inflammatory Bowel Diseases Bowel Disease, Inflammatory
Facioscapulohumeral Muscular Dystrophy 1	Facioscapulohumeral Muscular Dystrophy Fshd Landouzy-Dejerine Muscular Dystrophy Muscular Dystrophy, Facioscapulohumeral FSHD1 Fshd1a Muscular Dystrophy, Facioscapulohumeral, Type 1a Facioscapulohumeral Muscular Dystrophy Type 1a Fsh Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy 1a Facioscapulohumeral Atrophy Facioscapulohumeral Myopathy Muscular Dystrophy, Facioscapulohumeral, Type 1 Facioscapulohumeral Muscular Dystrophy Type 1 Landouzy Dejerine Muscular Dystrophy Muscular Dystrophy, Landouzy-Dejerine Fshmd1a Facio-Scapulo-Humeral Dystrophy Facioscapulohumeral Type Progressive Muscular Dystrophy Facioscapuloperoneal Muscular Dystrophy Facioscapulohumeral Dystrophy Fsh Dystrophy Landouzy-Dejerine Dystrophy Landouzy-Dejerine Myopathy Fmd Facioscapulohumeral Muscular Dystrophy-1a Muscular Dystrophy Facioscapulohumeral Dystrophy, Muscular, Facioscapulohumeral Dystrophy, Muscular, Facioscapulohumeral, Type 1 Landouzy-Dejerine Disease Landouzy-Déjerine Atrophy Facioscapulohumeral Muscle Dystrophy Fmd - [Facioscapulohumeral Muscular Dystrophy] Fsh - [Facioscapulohumeral Muscular Dystrophy] Fshd - [Facioscapulohumeral Muscular Dystrophy] Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy Landouzy-Déjérine Muscular Dystrophy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (9)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-159706	S9-A13	Inhibitor	/	Unkown
HY-149276	SLC26A3-IN-2		99.88%	Unkown
HY-RS13137	SLC26A3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-105028S	Tenidap-d3	Inhibitor	/	Unkown
HY-128361	SLC26A3-IN-3	Inhibitor	/	Unkown
HY-149802	SLC26A3-IN-1		/	Unkown
HY-105028A	Tenidap sodium	Inhibitor	/	Unkown
HY-RS19842	Slc26a3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26340	Slc26a3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SLC26A3	VGNC	VGNC:46323
Macaca mulatta	SLC26A3	VGNC	VGNC:108438
Rattus norvegicus	SLC26A3	RGD	RGD:620623
Felis catus	SLC26A3	VGNC	VGNC:65284
Bos taurus	SLC26A3	VGNC	VGNC:34778
Mus musculus	SLC26A3	MGD	MGI:107181
Others	SLC26A3	NCBI