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2.A.53.2.18
Chloride anion exchanger (Down-regulated in adenoma) (Protein DRA) (Solute carrier family 26 member 3).  The intracellular pH regulates ion exchange (Hayashi et al. 2009). Reduced functional expression of NHE3, and DRA contribute to Cl- and Na+ stool loss in microvillus inclusion disease (MVID) diarrhea (Kravtsov et al. 2016). Mutations cause Congenital Chloride Diarrhea (CCD), an autosomal recessive disease in humans.  Upon infection with Salmonella, DRA levels go down, preventing Cl- absorption giving rise to diarrhea (A. Quach, personal communication). NHE-3 (TC# 2.A.53.2.18) was markedly downregulated, while the Na+-HCO3--cotransporter (NBC-1; TC# 2.A.31.2.12) and Na+-glucose transporter type-2 (SGLT2 or SGLT-2; TC#2.A.1.7.26) were upregulated after kidney transplantation (Velic et al. 2004).

Accession Number:P40879
Protein Name:Chloride anion exchanger
Length:764
Molecular Weight:84505.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:12
Location1 / Topology2 / Orientation3: Membrane1 / Multi-pass membrane protein2
Substrate chloride

Cross database links:

Entrez Gene ID: 1811   
Pfam: PF01740    PF00916   
KEGG: hsa:1811   

Gene Ontology

GO:0016021 C:integral to membrane
GO:0005624 C:membrane fraction
GO:0005886 C:plasma membrane
GO:0015301 F:anion:anion antiporter activity
GO:0008271 F:secondary active sulfate transmembrane transporter activity
GO:0003700 F:sequence-specific DNA binding transcription factor activity
GO:0003712 F:transcription cofactor activity
GO:0005215 F:transporter activity
GO:0006820 P:anion transport
GO:0007588 P:excretion
GO:0055085 P:transmembrane transport

References (12)

[1] “Identification of a colon mucosa gene that is down-regulated in colon adenomas and adenocarcinomas.”  Schweinfest C.W.et.al.   7683425
[2] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[3] “Similarities between a soybean nodulin, Neurospora crassa sulphate permease II and a putative human tumour suppressor.”  Sandal N.N.et.al.   8140616
[4] “The CFTR associated protein CAP70 interacts with the apical Cl-/HCO3-exchanger DRA in rabbit small intestinal mucosa.”  Rossmann H.et.al.   15766278
[5] “ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.”  Matsuoka S.et.al.   17525332
[6] “Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea.”  Hoeglund P.et.al.   8896562
[7] “Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait.”  Hoglund P.et.al.   9718329
[8] “Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene.”  Hoeglund P.et.al.   9554749
[9] “Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea.”  Hoeglund P.et.al.   11524734
[10] “Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.”  Choi M.et.al.   19861545
[11] “Update on SLC26A3 mutations in congenital chloride diarrhea.”  Wedenoja S.et.al.   21394828
[12] “Compound heterozygous mutations in the SLC26A3 gene in 2 Spanish siblings with congenital chloride diarrhea.”  Rodriguez-Herrera A.et.al.   21150650

External Searches:

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Predict TMSs (Predict number of transmembrane segments)
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FASTA formatted sequence
1:	MIEPFGNQYI VARPVYSTNA FEENHKKTGR HHKTFLDHLK VCCSCSPQKA KRIVLSLFPI 
61:	ASWLPAYRLK EWLLSDIVSG ISTGIVAVLQ GLAFALLVDI PPVYGLYASF FPAIIYLFFG 
121:	TSRHISVGPF PILSMMVGLA VSGAVSKAVP DRNATTLGLP NNSNNSSLLD DERVRVAAAA 
181:	SVTVLSGIIQ LAFGILRIGF VVIYLSESLI SGFTTAAAVH VLVSQLKFIF QLTVPSHTDP 
241:	VSIFKVLYSV FSQIEKTNIA DLVTALIVLL VVSIVKEINQ RFKDKLPVPI PIEFIMTVIA 
301:	AGVSYGCDFK NRFKVAVVGD MNPGFQPPIT PDVETFQNTV GDCFGIAMVA FAVAFSVASV 
361:	YSLKYDYPLD GNQELIALGL GNIVCGVFRG FAGSTALSRS AVQESTGGKT QIAGLIGAII 
421:	VLIVVLAIGF LLAPLQKSVL AALALGNLKG MLMQFAEIGR LWRKDKYDCL IWIMTFIFTI 
481:	VLGLGLGLAA SVAFQLLTIV FRTQFPKCST LANIGRTNIY KNKKDYYDMY EPEGVKIFRC 
541:	PSPIYFANIG FFRRKLIDAV GFSPLRILRK RNKALRKIRK LQKQGLLQVT PKGFICTVDT 
601:	IKDSDEELDN NQIEVLDQPI NTTDLPFHID WNDDLPLNIE VPKISLHSLI LDFSAVSFLD 
661:	VSSVRGLKSI LQEFIRIKVD VYIVGTDDDF IEKLNRYEFF DGEVKSSIFF LTIHDAVLHI 
721:	LMKKDYSTSK FNPSQEKDGK IDFTINTNGG LRNRVYEVPV ETKF