Details for: SLC26A3

Gene ID: 1811

Symbol: SLC26A3

Ensembl ID: ENSG00000091138

Description: solute carrier family 26 member 3

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 25.6645
    Cell Significance Index: 57.8600
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 24.8503
    Cell Significance Index: 188.4400
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 16.9698
    Cell Significance Index: -37.1400
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 11.0810
    Cell Significance Index: 114.7100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 7.1150
    Cell Significance Index: -19.0600
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 6.4696
    Cell Significance Index: 95.4900
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 6.4262
    Cell Significance Index: 71.4100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 6.2744
    Cell Significance Index: 284.4000
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 5.9874
    Cell Significance Index: 36.9400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 2.6333
    Cell Significance Index: 57.0500
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: 2.4879
    Cell Significance Index: 34.7900
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 2.1337
    Cell Significance Index: 52.0600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.9144
    Cell Significance Index: 53.5000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.5293
    Cell Significance Index: 303.4900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 1.3751
    Cell Significance Index: 39.2400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 1.3477
    Cell Significance Index: 90.6200
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 1.2681
    Cell Significance Index: 13.8500
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 1.2640
    Cell Significance Index: 14.6300
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: 1.0699
    Cell Significance Index: 13.8800
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 0.8594
    Cell Significance Index: 12.9500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.8533
    Cell Significance Index: 138.7800
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 0.7823
    Cell Significance Index: 19.5400
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 0.7458
    Cell Significance Index: 12.2900
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.7406
    Cell Significance Index: 44.4600
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 0.4475
    Cell Significance Index: 7.2200
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.3550
    Cell Significance Index: 5.3200
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 0.3200
    Cell Significance Index: 3.3100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2962
    Cell Significance Index: 56.3700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2938
    Cell Significance Index: 8.4700
  • Cell Name: subcutaneous adipocyte (CL0002521)
    Fold Change: 0.2871
    Cell Significance Index: 1.2500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.2172
    Cell Significance Index: 5.4300
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 0.2084
    Cell Significance Index: 1.8500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1966
    Cell Significance Index: 33.5700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1852
    Cell Significance Index: 12.8100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.1701
    Cell Significance Index: 12.6800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.1483
    Cell Significance Index: 16.1300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1420
    Cell Significance Index: 28.4800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1035
    Cell Significance Index: 10.2400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1004
    Cell Significance Index: 1.7200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0901
    Cell Significance Index: 81.3300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0131
    Cell Significance Index: 4.7100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0102
    Cell Significance Index: -19.2200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0106
    Cell Significance Index: -19.5300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0120
    Cell Significance Index: -18.5200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0122
    Cell Significance Index: -0.4300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0166
    Cell Significance Index: -22.6200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: -0.0300
    Cell Significance Index: -20.7600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0352
    Cell Significance Index: -22.3500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0375
    Cell Significance Index: -27.7900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0380
    Cell Significance Index: -10.9300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0449
    Cell Significance Index: -28.0300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0476
    Cell Significance Index: -26.8300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0544
    Cell Significance Index: -29.7000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0595
    Cell Significance Index: -27.0100
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0969
    Cell Significance Index: -1.4300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.1033
    Cell Significance Index: -18.6300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1337
    Cell Significance Index: -28.1700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1390
    Cell Significance Index: -20.2100
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.1598
    Cell Significance Index: -2.3000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1780
    Cell Significance Index: -3.7900
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: -0.1874
    Cell Significance Index: -2.3600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.1877
    Cell Significance Index: -23.0800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1917
    Cell Significance Index: -24.7600
  • Cell Name: enterocyte (CL0000584)
    Fold Change: -0.2047
    Cell Significance Index: -1.2700
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.2134
    Cell Significance Index: -5.1700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.2170
    Cell Significance Index: -29.8100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2173
    Cell Significance Index: -13.3200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2203
    Cell Significance Index: -25.6700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2288
    Cell Significance Index: -26.2100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.2416
    Cell Significance Index: -24.6800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.2425
    Cell Significance Index: -6.6000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2818
    Cell Significance Index: -29.3400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2877
    Cell Significance Index: -9.2200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.3106
    Cell Significance Index: -23.8400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.3383
    Cell Significance Index: -14.9700
  • Cell Name: serous secreting cell of bronchus submucosal gland (CL4033005)
    Fold Change: -0.3547
    Cell Significance Index: -3.5500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.3630
    Cell Significance Index: -22.3100
  • Cell Name: colonocyte (CL1000347)
    Fold Change: -0.3722
    Cell Significance Index: -2.3000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4418
    Cell Significance Index: -14.0700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.4430
    Cell Significance Index: -20.8200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.4479
    Cell Significance Index: -16.9600
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: -0.4755
    Cell Significance Index: -3.6200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.4812
    Cell Significance Index: -27.0000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.4916
    Cell Significance Index: -17.2200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.5131
    Cell Significance Index: -16.8000
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: -0.6534
    Cell Significance Index: -8.4200
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.6741
    Cell Significance Index: -16.8200
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.6771
    Cell Significance Index: -14.6300
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: -0.6823
    Cell Significance Index: -8.1100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.7007
    Cell Significance Index: -18.7100
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.7086
    Cell Significance Index: -15.0400
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: -0.7765
    Cell Significance Index: -10.7700
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.7864
    Cell Significance Index: -15.5500
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.7883
    Cell Significance Index: -13.6300
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.7931
    Cell Significance Index: -13.3600
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.7955
    Cell Significance Index: -10.2000
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.7973
    Cell Significance Index: -16.6400
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.7999
    Cell Significance Index: -16.0600
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.8078
    Cell Significance Index: -25.5500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.8084
    Cell Significance Index: -37.6900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Multifunctional Chloride Transporter:** The SLC26A3 protein exhibits a wide range of chloride transport activities, including bicarbonate transport, chloride: bicarbonate antiporter activity, and monoatomic anion transport. This versatility is essential for maintaining the delicate balance of electrolytes and pH in various tissues. 2. **Expression in Multiple Tissues:** The SLC26A3 gene is expressed in epithelial cells of the lung alveolus, retina, cardiac tissue, and other cell types, underscoring its importance in maintaining normal physiological function. 3. **Role in Congenital Secretory Chloride Diarrhea 1 (diar1):** Mutations in the SLC26A3 gene have been linked to diar1, a rare genetic disorder characterized by severe diarrhea and vomiting. **Pathways and Functions:** 1. **Apical Plasma Membrane:** The SLC26A3 protein is localized to the apical plasma membrane, where it plays a crucial role in maintaining the delicate balance of electrolytes and pH. 2. **Bicarbonate Transport:** The SLC26A3 protein facilitates bicarbonate transport across epithelial cells, which is essential for maintaining acid-base balance in the body. 3. **Chloride: Bicarbonate Antiporter Activity:** The SLC26A3 protein exhibits antiporter activity, exchanging chloride ions for bicarbonate ions across epithelial cells. 4. **Monoatomic Anion Transport:** The SLC26A3 protein facilitates the transport of monoatomic anions, such as chloride and sulfate, across epithelial cells. 5. **Sulfate Transport:** The SLC26A3 protein plays a role in sulfate transport across epithelial cells, which is essential for maintaining normal physiological function. **Clinical Significance:** 1. **Congenital Secretory Chloride Diarrhea 1 (diar1):** Mutations in the SLC26A3 gene have been linked to diar1, a rare genetic disorder characterized by severe diarrhea and vomiting. 2. **Respiratory and Cardiovascular Disease:** Abnormalities in chloride transport can contribute to respiratory and cardiovascular disease, including chronic obstructive pulmonary disease (COPD) and heart failure. 3. **Neurological Disorders:** The SLC26A3 protein plays a role in maintaining normal physiological function in the retina and brain, and abnormalities in chloride transport can contribute to neurological disorders, including epilepsy and Alzheimer's disease. 4. **Cancer:** The SLC26A3 protein is overexpressed in certain types of cancer, including colorectal and breast cancer, and may contribute to cancer progression. In conclusion, the SLC26A3 gene is a multifunctional chloride transporter that plays a crucial role in maintaining normal physiological function in various tissues throughout the body. Mutations in the SLC26A3 gene have been linked to congenital secretory chloride diarrhea 1 (diar1) and other diseases, highlighting the importance of chloride transport in maintaining human health. Further research is needed to fully understand the implications of SLC26A3 dysfunction in human disease.

Genular Protein ID: 3788241072

Symbol: S26A3_HUMAN

Name: Chloride anion exchanger

UniProtKB Accession Codes:

Database IDs:

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.