KEGG   Homo sapiens (human): 6558
Entry
6558              CDS       T01001                                 
Symbol
SLC12A2, BSC, BSC-2, BSC2, CCC1, KILQS, NKCC1, PPP1R141, hNKCC1
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
H02933  Delpire-McNeill syndrome
H02934  Kilquist syndrome
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

  All links  
Disease (4)   
   OMIM (4)   
Gene (17)   
   RefGene (12)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (11)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (8)   
DNA sequence (39)   
   RefSeq(nuc) (9)   
   GenBank (15)   
   EMBL (15)   
3D Structure (14)   
   PDB (14)   
Protein domain (4)   
   Pfam (4)   
All databases (89)   

Download RDF
DBGET integrated database retrieval system