KEGG   Homo sapiens (human): 6558
Entry
6558              CDS       T01001                                 
Symbol
SLC12A2, BSC, BSC-2, BSC2, CCC1, KILQS, NKCC1, PPP1R141
Name
(RefSeq) solute carrier family 12 member 2
  KO
K10951  solute carrier family 12 (sodium/potassium/chloride transporter), member 2
Organism
hsa  Homo sapiens (human)
Pathway
hsa04970  Salivary secretion
hsa04972  Pancreatic secretion
hsa05110  Vibrio cholerae infection
Disease
H00604  Deafness, autosomal dominant
Drug target
Alilusem potassium: D09772
Azosemide: D01323<JP>
Bumetanide: D00247<US>
Etacrynic acid (DG00274): D00313<US> D04079<US>
Etozolin: D04111
Furosemide (DG00272): D00331<JP/US> D07999 D08001
Muzolimine: D05093
Piretanide: D01634
Tienilic acid: D02386
Torasemide (DG00273): D00382<JP/US> D08619
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09154 Digestive system
   04970 Salivary secretion
    6558 (SLC12A2)
   04972 Pancreatic secretion
    6558 (SLC12A2)
 09160 Human Diseases
  09171 Infectious disease: bacterial
   05110 Vibrio cholerae infection
    6558 (SLC12A2)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01009 Protein phosphatases and associated proteins [BR:hsa01009]
    6558 (SLC12A2)
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    6558 (SLC12A2)
Protein phosphatases and associated proteins [BR:hsa01009]
 Protein serine/threonine phosphatases
  Phosphoprotein phosphatases (PPPs)
   Protein phosphatase-1
    PP1-interacting proteins (PIPs)
     6558 (SLC12A2)
Transporters [BR:hsa02000]
 Solute carrier family (SLC)
  SLC12: Electroneutral cation-coupled Cl cotransporter
   6558 (SLC12A2)
SSDB
Motif
Pfam: SLC12 AA_permease AA_permease_N AA_permease_2
Other DBs
NCBI-GeneID: 6558
NCBI-ProteinID: NP_001037
OMIM: 600840
HGNC: 10911
Ensembl: ENSG00000064651
UniProt: P55011 Q53ZR1
Structure
Position
5:128083766..128189677
AA seq 1212 aa
MEPRPTAPSSGAPGLAGVGETPSAAALAAARVELPGTAVPSVPEDAAPASRDGGGVRDEG
PAAAGDGLGRPLGPTPSQSRFQVDLVSENAGRAAAAAAAAAAAAAAAGAGAGAKQTPADG
EASGESEPAKGSEEAKGRFRVNFVDPAASSSAEDSLSDAAGVGVDGPNVSFQNGGDTVLS
EGSSLHSGGGGGSGHHQHYYYDTHTNTYYLRTFGHNTMDAVPRIDHYRHTAAQLGEKLLR
PSLAELHDELEKEPFEDGFANGEESTPTRDAVVTYTAESKGVVKFGWIKGVLVRCMLNIW
GVMLFIRLSWIVGQAGIGLSVLVIMMATVVTTITGLSTSAIATNGFVRGGGAYYLISRSL
GPEFGGAIGLIFAFANAVAVAMYVVGFAETVVELLKEHSILMIDEINDIRIIGAITVVIL
LGISVAGMEWEAKAQIVLLVILLLAIGDFVIGTFIPLESKKPKGFFGYKSEIFNENFGPD
FREEETFFSVFAIFFPAATGILAGANISGDLADPQSAIPKGTLLAILITTLVYVGIAVSV
GSCVVRDATGNVNDTIVTELTNCTSAACKLNFDFSSCESSPCSYGLMNNFQVMSMVSGFT
PLISAGIFSATLSSALASLVSAPKIFQALCKDNIYPAFQMFAKGYGKNNEPLRGYILTFL
IALGFILIAELNVIAPIISNFFLASYALINFSVFHASLAKSPGWRPAFKYYNMWISLLGA
ILCCIVMFVINWWAALLTYVIVLGLYIYVTYKKPDVNWGSSTQALTYLNALQHSIRLSGV
EDHVKNFRPQCLVMTGAPNSRPALLHLVHDFTKNVGLMICGHVHMGPRRQAMKEMSIDQA
KYQRWLIKNKMKAFYAPVHADDLREGAQYLMQAAGLGRMKPNTLVLGFKKDWLQADMRDV
DMYINLFHDAFDIQYGVVVIRLKEGLDISHLQGQEELLSSQEKSPGTKDVVVSVEYSKKS
DLDTSKPLSEKPITHKVEEEDGKTATQPLLKKESKGPIVPLNVADQKLLEASTQFQKKQG
KNTIDVWWLFDDGGLTLLIPYLLTTKKKWKDCKIRVFIGGKINRIDHDRRAMATLLSKFR
IDFSDIMVLGDINTKPKKENIIAFEEIIEPYRLHEDDKEQDIADKMKEDEPWRITDNELE
LYKTKTYRQIRLNELLKEHSSTANIIVMSLPVARKGAVSSALYMAWLEALSKDLPPILLV
RGNHQSVLTFYS
NT seq 3639 nt   +upstreamnt  +downstreamnt
atggagccgcggcccacggcgccctcctccggcgccccgggactggccggggtcggggag
acgccgtcagccgctgcgctggccgcagccagggtggaactgcccggcacggctgtgccc
tcggtgccggaggatgctgcgcccgcgagccgggacggcggcggggtccgcgatgagggc
cccgcggcggccggggacgggctgggcagacccttggggcccaccccgagccagagccgt
ttccaggtggacctggtttccgagaacgccgggcgggccgctgctgcggcggcggcggcg
gcggcggcagcggcggcggctggtgctggggcgggggccaagcagacccccgcggacggg
gaagccagcggcgagagcgagccggctaaaggcagcgaggaagccaagggccgcttccgc
gtgaacttcgtggacccagctgcctcctcgtcggctgaagacagcctgtcagatgctgcc
ggggtcggagtcgacgggcccaacgtgagcttccagaacggcggggacacggtgctgagc
gagggcagcagcctgcactccggcggcggcggcggcagtgggcaccaccagcactactat
tatgatacccacaccaacacctactacctgcgcaccttcggccacaacaccatggacgct
gtgcccaggatcgatcactaccggcacacagccgcgcagctgggcgagaagctgctccgg
cctagcctggcggagctccacgacgagctggaaaaggaaccttttgaggatggctttgca
aatggggaagaaagtactccaaccagagatgctgtggtcacgtatactgcagaaagtaaa
ggagtcgtgaagtttggctggatcaagggtgtattagtacgttgtatgttaaacatttgg
ggtgtgatgcttttcattagattgtcatggattgtgggtcaagctggaataggtctatca
gtccttgtaataatgatggccactgttgtgacaactatcacaggattgtctacttcagca
atagcaactaatggatttgtaagaggaggaggagcatattatttaatatctagaagtcta
gggccagaatttggtggtgcaattggtctaatcttcgcctttgccaacgctgttgcagtt
gctatgtatgtggttggatttgcagaaaccgtggtggagttgcttaaggaacattccata
cttatgatagatgaaatcaatgatatccgaattattggagccattacagtcgtgattctt
ttaggtatctcagtagctggaatggagtgggaagcaaaagctcagattgttcttttggtg
atcctacttcttgctattggtgatttcgtcataggaacatttatcccactggagagcaag
aagccaaaagggttttttggttataaatctgaaatatttaatgagaactttgggcccgat
tttcgagaggaagagactttcttttctgtatttgccatcttttttcctgctgcaactggt
attctggctggagcaaatatctcaggtgatcttgcagatcctcagtcagccatacccaaa
ggaacactcctagccattttaattactacattggtttacgtaggaattgcagtatctgta
ggttcttgtgttgttcgagatgccactggaaacgttaatgacactatcgtaacagagcta
acaaactgtacttctgcagcctgcaaattaaactttgatttttcatcttgtgaaagcagt
ccttgttcctatggcctaatgaacaacttccaggtaatgagtatggtgtcaggatttaca
ccactaatttctgcaggtatattttcagccactctttcttcagcattagcatccctagtg
agtgctcccaaaatatttcaggctctatgtaaggacaacatctacccagctttccagatg
tttgctaaaggttatgggaaaaataatgaacctcttcgtggctacatcttaacattctta
attgcacttggattcatcttaattgctgaactgaatgttattgcaccaattatctcaaac
ttcttccttgcatcatatgcattgatcaatttttcagtattccatgcatcacttgcaaaa
tctccaggatggcgtcctgcattcaaatactacaacatgtggatatcacttcttggagca
attctttgttgcatagtaatgttcgtcattaactggtgggctgcattgctaacatatgtg
atagtccttgggctgtatatttatgttacctacaaaaaaccagatgtgaattggggatcc
tctacacaagccctgacttacctgaatgcactgcagcattcaattcgtctttctggagtg
gaagaccacgtgaaaaactttaggccacagtgtcttgttatgacaggtgctccaaactca
cgtccagctttacttcatcttgttcatgatttcacaaaaaatgttggtttgatgatctgt
ggccatgtacatatgggtcctcgaagacaagccatgaaagagatgtccatcgatcaagcc
aaatatcagcgatggcttattaagaacaaaatgaaggcattttatgctccagtacatgca
gatgacttgagagaaggtgcacagtatttgatgcaggctgctggtcttggtcgtatgaag
ccaaacacacttgtccttggatttaagaaagattggttgcaagcagatatgagggatgtg
gatatgtatataaacttatttcatgatgcttttgacatacaatatggagtagtggttatt
cgcctaaaagaaggtctggatatatctcatcttcaaggacaagaagaattattgtcatca
caagagaaatctcctggcaccaaggatgtggtagtaagtgtggaatatagtaaaaagtcc
gatttagatacttccaaaccactcagtgaaaaaccaattacacacaaagttgaggaagag
gatggcaagactgcaactcaaccactgttgaaaaaagaatccaaaggccctattgtgcct
ttaaatgtagctgaccaaaagcttcttgaagctagtacacagtttcagaaaaaacaagga
aagaatactattgatgtctggtggctttttgatgatggaggtttgaccttattgatacct
taccttctgacgaccaagaaaaaatggaaagactgtaagatcagagtattcattggtgga
aagataaacagaatagaccatgaccggagagcgatggctactttgcttagcaagttccgg
atagacttttctgatatcatggttctaggagatatcaataccaaaccaaagaaagaaaat
attatagcttttgaggaaatcattgagccatacagacttcatgaagatgataaagagcaa
gatattgcagataaaatgaaagaagatgaaccatggcgaataacagataatgagcttgaa
ctttataagaccaagacataccggcagatcaggttaaatgagttattaaaggaacattca
agcacagctaatattattgtcatgagtctcccagttgcacgaaaaggtgctgtgtctagt
gctctctacatggcatggttagaagctctatctaaggacctaccaccaatcctcctagtt
cgtgggaatcatcagagtgtccttaccttctattcataa

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