Entry |
|
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 |
|
Pathway |
|
Disease |
H00604 | Deafness, autosomal dominant |
H02933 | Delpire-McNeill syndrome |
|
Drug target |
|
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 |
|
Other DBs |
|
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 |