Details for: SLC26A3

Gene ID: 1811

Symbol: SLC26A3

Ensembl ID: ENSG00000091138

Description: solute carrier family 26 member 3

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 16.31
    Marker Score: 7315
  • Cell Name: amacrine cell (CL0000561)
    Fold Change: 8.55
    Marker Score: 27387
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 6.81
    Marker Score: 4481
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: 5.9
    Marker Score: 17204.5
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 5.89
    Marker Score: 7344.5
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 5.68
    Marker Score: 2052
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 5.5
    Marker Score: 33036
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 5.07
    Marker Score: 15027
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 4.98
    Marker Score: 4773
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 4.09
    Marker Score: 54340.5
  • Cell Name: type I pneumocyte (CL0002062)
    Fold Change: 3.67
    Marker Score: 4420
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 3.53
    Marker Score: 10120.5
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 3.51
    Marker Score: 1282
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 3.44
    Marker Score: 1668
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 3.43
    Marker Score: 873
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 3.32
    Marker Score: 9465
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 3.25
    Marker Score: 27451.5
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 3.15
    Marker Score: 1493
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 2.97
    Marker Score: 10572
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 2.85
    Marker Score: 3071
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 2.8
    Marker Score: 8806
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 2.8
    Marker Score: 1222
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 2.64
    Marker Score: 684
  • Cell Name: podocyte (CL0000653)
    Fold Change: 2.31
    Marker Score: 855.5
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 2.29
    Marker Score: 1587
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 2.23
    Marker Score: 1520
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 2.03
    Marker Score: 5117
  • Cell Name: fat cell (CL0000136)
    Fold Change: 2.02
    Marker Score: 1130
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 2
    Marker Score: 1371
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 1.81
    Marker Score: 8685
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 1.76
    Marker Score: 385
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 1.76
    Marker Score: 2707
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.71
    Marker Score: 1935
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.68
    Marker Score: 2374
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.6
    Marker Score: 25650
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 1.58
    Marker Score: 3043
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.58
    Marker Score: 391
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 1.49
    Marker Score: 2477
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.48
    Marker Score: 169328
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 1.43
    Marker Score: 720
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 1.42
    Marker Score: 344
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 1.41
    Marker Score: 31613
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 1.39
    Marker Score: 1730
  • Cell Name: T cell (CL0000084)
    Fold Change: 1.37
    Marker Score: 2362
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 1.36
    Marker Score: 892
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.31
    Marker Score: 1325.5
  • Cell Name: enterocyte of epithelium proper of ileum (CL1000342)
    Fold Change: 1.18
    Marker Score: 342
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.18
    Marker Score: 1179
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.18
    Marker Score: 1248
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 1.15
    Marker Score: 419
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 1.13
    Marker Score: 318
  • Cell Name: club cell (CL0000158)
    Fold Change: 1.11
    Marker Score: 1294
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 1.09
    Marker Score: 591
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 1.09
    Marker Score: 966
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 1.06
    Marker Score: 214
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: 1.05
    Marker Score: 544
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 1.04
    Marker Score: 334
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71774
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47999
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 510
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 464
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 0.98
    Marker Score: 1211
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30404
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.98
    Marker Score: 932
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.97
    Marker Score: 1980
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.95
    Marker Score: 1540.5
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2410
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.94
    Marker Score: 377
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5303
  • Cell Name: monocyte (CL0000576)
    Fold Change: 0.93
    Marker Score: 1204
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 329
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2738
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.9
    Marker Score: 896
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5296
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.87
    Marker Score: 1648
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.85
    Marker Score: 322
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: 0.84
    Marker Score: 278
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.84
    Marker Score: 3510
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.78
    Marker Score: 700
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 399
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.75
    Marker Score: 689
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.74
    Marker Score: 1193
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.74
    Marker Score: 3093.5
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.7
    Marker Score: 1864
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.69
    Marker Score: 657
  • Cell Name: M cell of gut (CL0000682)
    Fold Change: 0.68
    Marker Score: 177
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.66
    Marker Score: 10363
  • Cell Name: bronchial epithelial cell (CL0002328)
    Fold Change: 0.66
    Marker Score: 174
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.65
    Marker Score: 391
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.65
    Marker Score: 272
  • Cell Name: capillary endothelial cell (CL0002144)
    Fold Change: 0.64
    Marker Score: 691
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.63
    Marker Score: 780
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.6
    Marker Score: 2077
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.59
    Marker Score: 1083
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.59
    Marker Score: 469
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.58
    Marker Score: 1063
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.58
    Marker Score: 1029
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.57
    Marker Score: 168
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.56
    Marker Score: 543
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.53
    Marker Score: 306.5

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Other Information

**Key characteristics:** * S26A3 is a multi-functional protein that is involved in the regulation of chloride and bicarbonate transport in epithelial cells. * It is a member of the SLC26 family of anion transporters, which are responsible for the transport of inorganic ions and molecules across cell membranes. * S26A3 is a key regulator of epithelial cell function, and its dysfunction can lead to a variety of diseases, including congenital secretory chloride diarrhea (diar1). **Pathways and functions:** * S26A3 is involved in the regulation of epithelial cell function by controlling the movement of chloride ions across the cell membrane. * In healthy cells, S26A3 is expressed in high levels in the apical cells of the lung, where it is responsible for maintaining the electroneutral balance of the cell. * When S26A3 is mutated or deleted, the apical cells become hyperpolarized, which leads to the development of diarrhea. * This is because the hyperpolarized cells are unable to regulate chloride transport properly, which results in the accumulation of chloride ions in the cell. * The accumulation of chloride ions can lead to a variety of symptoms of diarrhea, including abdominal pain, dehydration, and weight loss. **Clinical significance:** * Mutations in the SLC26A3 gene have been linked to a number of human diseases, including congenital secretory chloride diarrhea (diar1). * In these diseases, mutations in S26A3 can result in the loss of chloride transport function, which can lead to a variety of symptoms of diarrhea. * These symptoms can be treated with chloride replacement therapy, which can help to correct the electrolyte imbalance and improve the symptoms of diarrhea. **Conclusion:** The SLC26A3 gene is a key regulator of epithelial cell function. Its dysfunction can lead to a variety of diseases, including congenital secretory chloride diarrhea (diar1).

Genular Protein ID: 3788241072

Symbol: S26A3_HUMAN

Name: Chloride anion exchanger

UniProtKB Accession Codes:

P40879

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 2 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 2 EMDB 3 Ensembl 1 ExpressionAtlas 1 GO 18 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 3 PIR 1 PRO 1 PROSITE 2 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 2 RefSeq 2 Rhea 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7683425

Title: Identification of a colon mucosa gene that is down-regulated in colon adenomas and adenocarcinomas.

PubMed ID: 7683425

DOI: 10.1073/pnas.90.9.4166

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8140616

Title: Similarities between a soybean nodulin, Neurospora crassa sulphate permease II and a putative human tumour suppressor.

PubMed ID: 8140616

DOI: 10.1016/0968-0004(94)90168-6

PubMed ID: 15766278

Title: The CFTR associated protein CAP70 interacts with the apical Cl-/HCO3-exchanger DRA in rabbit small intestinal mucosa.

PubMed ID: 15766278

DOI: 10.1021/bi048828b

PubMed ID: 16606687

Title: Coupling modes and stoichiometry of Cl-/HCO3- exchange by slc26a3 and slc26a6.

PubMed ID: 16606687

DOI: 10.1085/jgp.200509392

PubMed ID: 19321737

Title: Regulation of intestinal Cl-/HCO3- exchanger SLC26A3 by intracellular pH.

PubMed ID: 19321737

DOI: 10.1152/ajpcell.00638.2008

PubMed ID: 22159084

Title: Role of N-glycosylation in cell surface expression and protection against proteolysis of the intestinal anion exchanger SLC26A3.

PubMed ID: 22159084

DOI: 10.1152/ajpcell.00165.2011

PubMed ID: 22627094

Title: Regulation of SLC26A3 activity by NHERF4 PDZ-mediated interaction.

PubMed ID: 22627094

DOI: 10.1016/j.cellsig.2012.05.010

PubMed ID: 8896562

Title: Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea.

PubMed ID: 8896562

DOI: 10.1038/ng1196-316

PubMed ID: 9718329

Title: Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait.

PubMed ID: 9718329

DOI: 10.1086/301998

PubMed ID: 9554749

Title: Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene.

PubMed ID: 9554749

DOI: 10.1002/(sici)1098-1004(1998)11:4<321::aid-humu10>3.0.co;2-a

PubMed ID: 11524734

Title: Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea.

PubMed ID: 11524734

DOI: 10.1002/humu.1179

PubMed ID: 19861545

Title: Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.

PubMed ID: 19861545

DOI: 10.1073/pnas.0910672106

PubMed ID: 21394828

Title: Update on SLC26A3 mutations in congenital chloride diarrhea.

PubMed ID: 21394828

DOI: 10.1002/humu.21498

PubMed ID: 21150650

Title: Compound heterozygous mutations in the SLC26A3 gene in 2 Spanish siblings with congenital chloride diarrhea.

PubMed ID: 21150650

DOI: 10.1097/mpg.0b013e3181f28d1a

PubMed ID: 22779076

Title: Identification of SLC26A3 mutations in a Korean patient with congenital chloride diarrhea.

PubMed ID: 22779076

DOI: 10.3343/alm.2012.32.4.312

PubMed ID: 23274434

Title: Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics.

PubMed ID: 23274434

DOI: 10.1007/s00431-012-1905-3

PubMed ID: 28644346

Title: Twelve novel mutations in the SLC26A3 gene in 17 sporadic cases of congenital chloride diarrhea.

PubMed ID: 28644346

DOI: 10.1097/mpg.0000000000001418

Sequence Information:

  • Length: 764
  • Mass: 84505
  • Checksum: 694C5BC2D4121F6D
  • Sequence:
    • MIEPFGNQYI VARPVYSTNA FEENHKKTGR HHKTFLDHLK VCCSCSPQKA KRIVLSLFPI 
ASWLPAYRLK EWLLSDIVSG ISTGIVAVLQ GLAFALLVDI PPVYGLYASF FPAIIYLFFG 
TSRHISVGPF PILSMMVGLA VSGAVSKAVP DRNATTLGLP NNSNNSSLLD DERVRVAAAA 
SVTVLSGIIQ LAFGILRIGF VVIYLSESLI SGFTTAAAVH VLVSQLKFIF QLTVPSHTDP 
VSIFKVLYSV FSQIEKTNIA DLVTALIVLL VVSIVKEINQ RFKDKLPVPI PIEFIMTVIA 
AGVSYGCDFK NRFKVAVVGD MNPGFQPPIT PDVETFQNTV GDCFGIAMVA FAVAFSVASV 
YSLKYDYPLD GNQELIALGL GNIVCGVFRG FAGSTALSRS AVQESTGGKT QIAGLIGAII 
VLIVVLAIGF LLAPLQKSVL AALALGNLKG MLMQFAEIGR LWRKDKYDCL IWIMTFIFTI 
VLGLGLGLAA SVAFQLLTIV FRTQFPKCST LANIGRTNIY KNKKDYYDMY EPEGVKIFRC 
PSPIYFANIG FFRRKLIDAV GFSPLRILRK RNKALRKIRK LQKQGLLQVT PKGFICTVDT 
IKDSDEELDN NQIEVLDQPI NTTDLPFHID WNDDLPLNIE VPKISLHSLI LDFSAVSFLD 
VSSVRGLKSI LQEFIRIKVD VYIVGTDDDF IEKLNRYEFF DGEVKSSIFF LTIHDAVLHI 
LMKKDYSTSK FNPSQEKDGK IDFTINTNGG LRNRVYEVPV ETKF

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.