Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1811
Gene name	Solute carrier family 26 member 3
Gene symbol	SLC26A3
Synonyms (NCBI Gene)	CLDDRA
Chromosome	7
Chromosome location	7q22.3-q31.1
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 c

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SNP ID	Visualize variation	Clinical significance	Consequence
rs121913030	T>A	Pathogenic	Missense variant, coding sequence variant
rs121913031	->GAT	Pathogenic	Coding sequence variant, inframe insertion
rs121913032	C>A	Pathogenic	Coding sequence variant, stop gained
rs121913033	C>T	Pathogenic	Coding sequence variant, stop gained
rs386833444	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs386833445	AACCATTGCGATGCCGAA>GGCATC	Likely-pathogenic	Coding sequence variant, inframe indel
rs386833446	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs386833447	AT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833448	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs386833449	C>T	Likely-pathogenic	Splice acceptor variant
rs386833450	AA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833451	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs386833452	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833453	G>A,T	Likely-pathogenic	Synonymous variant, coding sequence variant, stop gained
rs386833454	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs386833455	C>T	Likely-pathogenic	Splice acceptor variant
rs386833456	CTCTTGGCCTTTT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833457	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs386833458	T>-	Likely-pathogenic	Splice acceptor variant
rs386833459	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833460	GC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833461	GGTT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833462	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs386833463	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs386833464	AAT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs386833465	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833466	AGA>G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833467	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs386833468	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833469	C>-	Likely-pathogenic	Coding sequence variant, stop gained
rs386833471	C>A	Likely-pathogenic	Splice acceptor variant
rs386833472	CC>AAATTTTGAATTTTCACTTCAAAACCGGT,C	Likely-pathogenic	Frameshift variant, coding sequence variant, inframe indel
rs386833473	T>-,TT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833474	A>C	Likely-pathogenic	Coding sequence variant, stop gained
rs386833475	T>C	Likely-pathogenic	Intron variant
rs386833476	->TT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833477	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833478	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833479	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs386833480	G>A,C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs386833481	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs386833482	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833483	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs386833484	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs386833485	C>A,T	Likely-pathogenic	Splice acceptor variant
rs386833486	T>C	Likely-pathogenic	Splice acceptor variant
rs386833487	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs386833488	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs386833489	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs386833490	G>A,T	Likely-pathogenic	Synonymous variant, coding sequence variant, stop gained
rs386833491	CAC>-	Pathogenic	Inframe deletion, coding sequence variant
rs780815307	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1018933248	G>A	Pathogenic	Stop gained, coding sequence variant
rs1584403556	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (9)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016734	hsa-miR-335-5p	Microarray	18185580
MIRT025629	hsa-miR-7-5p	Microarray	17612493
MIRT438475	hsa-miR-494-3p	Luciferase reporter assay	24177028
MIRT438475	hsa-miR-494-3p	Luciferase reporter assay	24177028
MIRT1553744	hsa-miR-1237	CLIP-seq
MIRT1553745	hsa-miR-1245b-3p	CLIP-seq
MIRT1553746	hsa-miR-1248	CLIP-seq
MIRT1553747	hsa-miR-4699-5p	CLIP-seq
MIRT1553745	hsa-miR-1245b-3p	CLIP-seq

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Transcription factor	Regulation	Reference
CIITA	Unknown	9300700
ETS1	Activation	7935445
HNF4A	Unknown	17761837
YY1	Unknown	17761837

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005452	Function	Solute:inorganic anion antiporter activity	TAS
GO:0005515	Function	Protein binding	IPI	12369822, 22627094
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	19321737, 22159084, 22627094
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	TAS
GO:0006820	Process	Monoatomic anion transport	TAS	9554749
GO:0008271	Function	Secondary active sulfate transmembrane transporter activity	IEA
GO:0015106	Function	Bicarbonate transmembrane transporter activity	IEA
GO:0015106	Function	Bicarbonate transmembrane transporter activity	ISS
GO:0015108	Function	Chloride transmembrane transporter activity	IEA
GO:0015108	Function	Chloride transmembrane transporter activity	ISS
GO:0015116	Function	Sulfate transmembrane transporter activity	IBA
GO:0015297	Function	Antiporter activity	IEA
GO:0015701	Process	Bicarbonate transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016324	Component	Apical plasma membrane	IEA
GO:0019531	Function	Oxalate transmembrane transporter activity	IBA
GO:0019532	Process	Oxalate transport	IEA
GO:0031526	Component	Brush border membrane	IEA
GO:0048240	Process	Sperm capacitation	IEA
GO:0048240	Process	Sperm capacitation	ISS
GO:0051454	Process	Intracellular pH elevation	IEA
GO:0051454	Process	Intracellular pH elevation	ISS
GO:0055085	Process	Transmembrane transport	IEA
GO:0060081	Process	Membrane hyperpolarization	IEA
GO:0060081	Process	Membrane hyperpolarization	ISS
GO:0071320	Process	Cellular response to cAMP	IEA
GO:0071320	Process	Cellular response to cAMP	ISS
GO:0097225	Component	Sperm midpiece	IEA
GO:0097225	Component	Sperm midpiece	ISS
GO:0140900	Function	Chloride:bicarbonate antiporter activity	IBA
GO:0140900	Function	Chloride:bicarbonate antiporter activity	IDA	16606687, 19321737, 22159084, 22627094
GO:0140900	Function	Chloride:bicarbonate antiporter activity	IEA
GO:1902358	Process	Sulfate transmembrane transport	IBA
GO:1902358	Process	Sulfate transmembrane transport	IEA
GO:1902476	Process	Chloride transmembrane transport	IBA

MIM	HGNC	e!Ensembl
126650	3018	ENSG00000091138

P40879

Protein name

Chloride anion exchanger (Down-regulated in adenoma) (Protein DRA) (Solute carrier family 26 member 3)

Protein function

Mediates chloride-bicarbonate exchange with a chloride bicarbonate stoichiometry of 2:1 in the intestinal epithelia (PubMed:16606687, PubMed:19321737, PubMed:22159084, PubMed:22627094). Plays a role in the chloride and bicarbonate homeostasis du

PDB

7XUH , 7XUJ , 7XUL , 8IET

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00916	Sulfate_transp	73 → 475	Sulfate permease family	Family
PF01740	STAS	526 → 716	STAS domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in the colon. Expression is significantly decreased in adenomas (polyps) and adenocarcinomas of the colon. {ECO:0000269|PubMed:7683425}.

Sequence

MIEPFGNQYIVARPVYSTNAFEENHKKTGRHHKTFLDHLKVCCSCSPQKAKRIVLSLFPI
ASWLPAYRLKEWLLSDIVSGISTGIVAVLQGLAFALLVDIPPVYGLYASFFPAIIYLFFG
TSRHISVGPFPILSMMVGLAVSGAVSKAVPDRNATTLGLPNNSNNSSLLDDERVRVAAAA
SVTVLSGIIQLAFGILRIGFVVIYLSESLISGFTTAAAVHVLVSQLKFIFQLTVPSHTDP
VSIFKVLYSVFSQIEKTNIADLVTALIVLLVVSIVKEINQRFKDKLPVPIPIEFIMTVIA
AGVSYGCDFKNRFKVAVVGDMNPGFQPPITPDVETFQNTVGDCFGIAMVAFAVAFSVASV
YSLKYDYPLDGNQELIALGLGNIVCGVFRGFAGSTALSRSAVQESTGGKTQIAGLIGAII
VLIVVLAIGFLLAPLQKSVLAALALGNLKGMLMQFAEIGRLWRKDKYDCLIWIMTFIFTI
VLGLGLGLAASVAFQLLTIVFRTQFPKCSTLANIGRTNIYKNKKDYYDMYEPEGVKIFRC
PSPIYFANIGFFRRKLIDAVGFSPLRILRKRNKALRKIRKLQKQGLLQVTPKGFICTVDT
IKDSDEELDNNQIEVLDQPINTTDLPFHIDWNDDLPLNIEVPKISLHSLILDFSAVSFLD
VSSVRGLKSILQEFIRIKVDVYIVGTDDDFIEKLNRYEFFDGEVKSSIFFLTIHDAVLHI
LMKKDYSTSKFNPSQEKDGKIDFTINTNGGLRNRVYEVPVETKF

Sequence length

764

Interactions

View interactions

	KEGG		Reactome
	Pancreatic secretion Mineral absorption		Multifunctional anion exchangers Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1)

202

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital secretory diarrhea, chloride type	Pathogenic; Likely pathogenic	rs1264217866, rs386833449, rs1203528953, rs775664534, rs746758186, rs2535454764, rs1171640656, rs768656789, rs2535456378, rs1794304689, rs2535478180, rs386833491, rs121913030, rs121913032, rs121913033 View all (44 more)	RCV004563871 RCV005040335 RCV001775310 RCV005042624 RCV002466896 RCV003459815 RCV005047648 RCV004587531 RCV005036931 RCV005036966 RCV005038583 RCV000018239 RCV000018240 RCV000018244 RCV000018246 RCV004566658 RCV000049371 RCV000049372 RCV000049374 RCV000049375 RCV000049376 RCV000049377 RCV000049378 RCV000049379 RCV000049380 RCV000049381 RCV000049382 RCV000049383 RCV000049384 RCV000049385 RCV000049386 RCV000049387 RCV000049388 RCV000049390 RCV000049392 RCV000049393 RCV000049394 RCV000049395 RCV000049396 RCV000049397 RCV000049398 RCV000049399 RCV000049400 RCV000049401 RCV000049402 RCV000049403 RCV000049404 RCV000049405 RCV000049406 RCV000049408 RCV000049409 RCV000049410 RCV000049411 RCV000049412 RCV000049413 RCV000049414 RCV000049416 RCV000049417 RCV000049418 RCV000987941 RCV000991385
Gastrointestinal obstruction	Pathogenic	rs762034228	RCV001257348
Hydrops fetalis	Pathogenic	rs386833476, rs762034228, rs1208952914	RCV001257400 RCV001257348 RCV001257349
Intestinal obstruction	Pathogenic	rs386833476, rs1208952914	RCV001257400 RCV001257349
Polyhydramnios	Pathogenic	rs386833476, rs762034228, rs1208952914	RCV001257400 RCV001257348 RCV001257349
SLC26A3-related disorder	Pathogenic; Likely pathogenic	rs1264217866, rs1304534644, rs2535456352, rs386833479, rs386833486	RCV003405630 RCV003410516 RCV003899220 RCV004751246 RCV003964905

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Colon adenocarcinoma	Benign; Likely benign	rs73419912	RCV005900854
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	rs201220816	RCV005899163
Lung cancer	Conflicting classifications of pathogenicity	rs201220816	RCV005899165
Malignant tumor of esophagus	Benign; Likely benign	rs73419912	RCV005900855
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs201220816	RCV005899164

Show/Hide Text Mining Associations (42)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenoma	Associate	11302976, 18845559, 19940027, 24177028, 32116023, 7683425, 8963897
Adenoma	Inhibit	22159277, 25887398, 27079615
Alkalosis	Associate	18827800, 25568271, 34503561
Arthritis Rheumatoid	Associate	23460240
Barrett Esophagus	Associate	18845559
Bartter Syndrome	Associate	19861545, 30760291, 33095447
Colitis Ulcerative	Inhibit	12181169
Colitis Ulcerative	Associate	30452647
Colonic Neoplasms	Inhibit	7683425
Colorectal Neoplasms	Associate	19678923, 27121919, 32351322
Communicable Diseases	Associate	24177028
Congenital chloride diarrhea	Associate	11302976, 16412765, 18827800, 19861545, 21332001, 22159277, 22779076, 24350656, 25568271, 28941661, 29079751, 30635044, 30760291, 31145360, 31499577 View all (6 more)
Cystitis	Associate	16333100
Diabetes Mellitus Type 1	Associate	2999792
Diarrhea	Associate	22779076, 25568271
Drug Related Side Effects and Adverse Reactions	Associate	2518829
Dysentery	Associate	22159277, 24177028, 25887398
Genital Diseases Male	Associate	16412765
Gitelman Syndrome	Associate	23756661
Glioblastoma	Associate	1502171, 2847168
Graves Disease	Associate	2518829
Hypereosinophilic Syndrome	Associate	9113385
Infertility	Associate	29079751
Infertility Male	Associate	16412765, 29079751
Inflammation	Associate	24177028, 25887398, 35973536
Inflammatory Bowel Diseases	Associate	22159277, 32410873, 35679312
Leukemia Lymphoma Adult T Cell	Associate	6328275
Lupus Erythematosus Systemic	Inhibit	2997276
Lymphoma B Cell	Stimulate	1997650
Malnutrition	Associate	34503561
Melanosis	Associate	22696060
Microvillus inclusion disease	Associate	27229121
Neoplasms	Associate	10198604
Neoplasms	Inhibit	19678923, 7683425
Pendred syndrome	Associate	32295532
Polyps	Inhibit	7683425
Post Acute COVID 19 Syndrome	Associate	25568271
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	6328275
Prostatic Neoplasms	Inhibit	37516327
Pyelonephritis	Associate	16333100
Tooth Loss	Associate	27229121
Vipoma	Associate	34503561

SLC26A3 (solute carrier family 26 member 3)