KEGG   Homo sapiens (human): 6559Help
Entry
6559              CDS       T01001                                 

Gene name
SLC12A3, NCC, NCCT, TSC
Definition
(RefSeq) solute carrier family 12 member 3
  KO
K14426  solute carrier family 12 (sodium/chloride transporter), member 3
Organism
hsa  Homo sapiens (human)
Disease
H00240  Gitelman syndrome
Drug target
Bendroflumethiazide: D00650
Benzthiazide: D00651
Benzylhydrochlorothiazide: D01246
Chlorothiazide (DG00268): D00519 D03471
Chlortalidone: D00272
Hydrochlorothiazide: D00340
Hydroflumethiazide: D00654
Indapamide (DG00269): D00345 D06401
Mefruside: D01877
Methyclothiazide: D00656
Meticrane: D01605
Metolazone: D00431
Penflutizide: D01241
Polythiazide: D00657
Quinethazone: D00461
Trichlormethiazide: D00658
Tripamide: D01895
Brite
Transporters [BR:hsa02000]
 Solute Carrier Family (SLC)
  SLC12: Electroneutral cation-coupled Cl cotransporter
   6559 (SLC12A3)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   6559 (SLC12A3)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: AA_permease SLC12 AA_permease_N DUF2101
Motif
Other DBs
NCBI-GeneID: 6559
NCBI-ProteinID: NP_001119580
OMIM: 600968
HGNC: 10912
Ensembl: ENSG00000070915
Vega: OTTHUMG00000133284
Pharos: P55017(Tclin)
UniProt: P55017
Position
16q13
AA seq 1021 aa AA seqDB search
MAELPTTETPGDATLCSGRFTISTLLSSDEPSPPAAYDSSHPSHLTHSSTFCMRTFGYNT
IDVVPTYEHYANSTQPGEPRKVRPTLADLHSFLKQEGRHLHALAFDSRPSHEMTDGLVEG
EAGTSSEKNPEEPVRFGWVKGVMIRCMLNIWGVILYLRLPWITAQAGIVLTWIIILLSVT
VTSITGLSISAISTNGKVKSGGTYFLISRSLGPELGGSIGLIFAFANAVGVAMHTVGFAE
TVRDLLQEYGAPIVDPINDIRIIGVVSVTVLLAISLAGMEWESKAQVLFFLVIMVSFANY
LVGTLIPPSEDKASKGFFSYRADIFVQNLVPDWRGPDGTFFGMFSIFFPSATGILAGANI
SGDLKDPAIAIPKGTLMAIFWTTISYLAISATIGSCVVRDASGVLNDTVTPGWGACEGLA
CSYGWNFTECTQQHSCHYGLINYYQTMSMVSGFAPLITAGIFGATLSSALACLVSAAKVF
QCLCEDQLYPLIGFFGKGYGKNKEPVRGYLLAYAIAVAFIIIAELNTIAPIISNFFLCSY
ALINFSCFHASITNSPGWRPSFQYYNKWAALFGAIISVVIMFLLTWWAALIAIGVVLFLL
LYVIYKKPEVNWGSSVQAGSYNLALSYSVGLNEVEDHIKNYRPQCLVLTGPPNFRPALVD
FVGTFTRNLSLMICGHVLIGPHKQRMPELQLIANGHTKWLNKRKIKAFYSDVIAEDLRRG
VQILMQAAGLGRMKPNILVVGFKKNWQSAHPATVEDYIGILHDAFDFNYGVCVMRMREGL
NVSKMMQAHINPVFDPAEDGKEASARVDPKALVKEEQATTIFQSEQGKKTIDIYWLFDDG
GLTLLIPYLLGRKRRWSKCKIRVFVGGQINRMDQERKAIISLLSKFRLGFHEVHILPDIN
QNPRAEHTKRFEDMIAPFRLNDGFKDEATVNEMRRDCPWKISDEEITKNRVKSLRQVRLN
EIVLDYSRDAALIVITLPIGRKGKCPSSLYMAWLETLSQDLRPPVILIRGNQENVLTFYC
Q
NT seq 3066 nt NT seq  +upstreamnt  +downstreamnt
atggcagaactgcccacaacagagacgcctggggacgccactttgtgcagcgggcgcttc
accatcagcacactgctgagcagtgatgagccctctccaccagctgcctatgacagcagc
caccccagccacctgacccacagcagcaccttctgcatgcgcacctttggctacaacacg
atcgatgtggtgcccacatatgagcactatgccaacagcacccagcctggtgagccccgg
aaggtccggcccacactggctgacctgcactccttcctcaagcaggaaggcagacacctg
catgccctggcctttgacagccggcccagccacgagatgactgatgggctggtggagggc
gaggcaggcaccagcagcgagaagaaccccgaggagccagtgcgcttcggctgggtcaag
ggggtgatgattcgttgcatgctcaacatttggggcgtgatcctctacctgcggctgccc
tggattacggcccaggcaggcatcgtcctgacctggatcatcatcctgctgtcggtcacg
gtgacctccatcacaggcctctccatctcagccatctccaccaatggcaaggtcaagtca
ggtggcacctacttcctcatctcccggagtctgggcccagagcttgggggctccatcggc
ctcattttcgctttcgccaatgccgtgggtgtggccatgcacacggtgggctttgcagag
accgtgcgggacctgctccaggagtatggggcacccatcgtggaccccattaacgacatc
cgcatcattggcgtggtctcggtcactgtgctgctggccatctccctggctggcatggag
tgggagtccaaggcccaggtgctgttcttccttgtcatcatggtctcctttgccaactat
ttagtggggacgctgatccccccatctgaggacaaggcctccaaaggcttcttcagctac
cgggcggacatttttgtccagaacttggtgcctgactggcggggtccagatggcaccttc
ttcggaatgttctccatcttcttcccctcggccacaggcatcctggcaggggccaacata
tctggtgacctcaaggaccctgctatagccatccccaaggggaccctcatggccattttc
tggacgaccatttcctacctggccatctcagccaccattggctcctgcgtggtgcgtgat
gcctctggggtcctgaatgacacagtgacccctggctggggtgcctgcgaggggctggcc
tgcagctatggctggaacttcaccgagtgcacccagcagcacagctgccactacggcctc
atcaactattaccagaccatgagcatggtgtcaggcttcgcgcccctgatcacggctggc
atcttcggggccaccctctcctctgccctggcctgccttgtctctgctgccaaagtcttc
cagtgcctttgcgaggaccagctgtacccactgatcggcttcttcggcaaaggctatggc
aagaacaaggagcccgtgcgtggctacctgctggcctacgccatcgctgtggccttcatc
atcatcgctgagctcaacaccatagcccccatcatttccaacttcttcctctgctcctat
gccctcatcaacttcagctgcttccacgcctccatcaccaactcgcctgggtggagacct
tcattccaatactacaacaagtgggcggcgctgtttggggctatcatctccgtggtcatc
atgttcctcctcacctggtgggcggccctcatcgccattggcgtggtgctcttcctcctg
ctctatgtcatctacaagaagccagaggtaaattggggctcctcggtacaggctggctcc
tacaacctggccctcagctactcggtgggcctcaatgaggtggaagaccacatcaagaac
taccgcccccagtgcctggtgctcacggggccccccaacttccgcccggccctggtggac
tttgtgggcaccttcacccggaacctcagcctgatgatctgtggccacgtgctcatcgga
ccccacaagcagaggatgcctgagctccagctcatcgccaacgggcacaccaagtggctg
aacaagaggaagatcaaggccttctactcggatgtcattgccgaggacctccgcagaggc
gtccagatcctcatgcaggccgcaggtctcgggagaatgaagcccaacattctggtggtt
gggttcaagaagaactggcagtcggctcacccggccacagtggaagactacattggcatc
ctccatgatgcctttgatttcaactatggcgtgtgtgtcatgaggatgcgggagggactc
aacgtgtccaagatgatgcaggcgcacattaaccccgtgtttgacccagcggaggacggg
aaggaagccagcgccagagtggaccccaaggccctggtgaaggaggagcaggccaccacc
atcttccagtcggagcagggcaagaagaccatagacatctactggctctttgacgatgga
ggcctcaccctcctcattccctatctccttggccgcaagaggaggtggagcaaatgcaag
atccgtgtgttcgtaggcggccagattaacaggatggaccaggagagaaaggcgatcatt
tctctgctgagcaagttccgactgggattccatgaagtccacatcctccctgacatcaac
cagaaccctcgggctgagcacaccaagaggtttgaggacatgattgcacccttccgtctg
aatgatggcttcaaggatgaggccactgtcaacgagatgcggcgggactgcccctggaag
atctcagatgaggagattacgaagaacagagtcaagtcccttcggcaggtgaggctgaat
gagattgtgctggattactcccgagacgctgctctcatcgtcatcactttgcccataggg
aggaaggggaagtgccccagctcgctgtacatggcctggctggagaccctgtcccaggac
ctcagacctccagtcatcctgatccgaggaaaccaggaaaacgtgctcaccttttactgc
cagtaa

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