KEGG   Homo sapiens (human): 9990
Entry
9990              CDS       T01001                                 
Symbol
SLC12A6, ACCPN, CMT2II, KCC3, KCC3A, KCC3B
Name
(RefSeq) solute carrier family 12 member 6
  KO
K14427  solute carrier family 12 (potassium/chloride transporter), member 4/6
Organism
hsa  Homo sapiens (human)
Disease
H00264  Charcot-Marie-Tooth disease
H00816  Agenesis of the corpus callosum with peripheral neuropathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    9990 (SLC12A6)
Transporters [BR:hsa02000]
 Solute carrier family (SLC)
  SLC12: Electroneutral cation-coupled Cl cotransporter
   9990 (SLC12A6)
SSDB
Motif
Pfam: AA_permease SLC12 AA_permease_2
Other DBs
NCBI-GeneID: 9990
NCBI-ProteinID: NP_598408
OMIM: 604878
HGNC: 10914
Ensembl: ENSG00000140199
UniProt: Q9UHW9
Structure
Position
15:complement(34229784..34338057)
AA seq 1150 aa
MHPPETTTKMASVRFMVTPTKIDDIPGLSDTSPDLSSRSSSRVRFSSRESVPETSRSEPM
SEMSGATTSLATVALDPPSDRTSHPQDVIEDLSQNSITGEHSQLLDDGHKKARNAYLNNS
NYEEGDEYFDKNLALFEEEMDTRPKVSSLLNRMANYTNLTQGAKEHEEAENITEGKKKPT
KTPQMGTFMGVYLPCLQNIFGVILFLRLTWVVGTAGVLQAFAIVLICCCCTMLTAISMSA
IATNGVVPAGGSYFMISRALGPEFGGAVGLCFYLGTTFAAAMYILGAIEIFLVYIVPRAA
IFHSDDALKESAAMLNNMRVYGTAFLVLMVLVVFIGVRYVNKFASLFLACVIVSILAIYA
GAIKSSFAPPHFPVCMLGNRTLSSRHIDVCSKTKEINNMTVPSKLWGFFCNSSQFFNATC
DEYFVHNNVTSIQGIPGLASGIITENLWSNYLPKGEIIEKPSAKSSDVLGSLNHEYVLVD
ITTSFTLLVGIFFPSVTGIMAGSNRSGDLKDAQKSIPIGTILAILTTSFVYLSNVVLFGA
CIEGVVLRDKFGDAVKGNLVVGTLSWPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAIAK
DNIIPFLRVFGHSKANGEPTWALLLTAAIAELGILIASLDLVAPILSMFFLMCYLFVNLA
CALQTLLRTPNWRPRFRYYHWALSFMGMSICLALMFISSWYYAIVAMVIAGMIYKYIEYQ
GAEKEWGDGIRGLSLSAARFALLRLEEGPPHTKNWRPQLLVLLKLDEDLHVKHPRLLTFA
SQLKAGKGLTIVGSVIVGNFLENYGEALAAEQTIKHLMEAEKVKGFCQLVVAAKLREGIS
HLIQSCGLGGMKHNTVVMGWPNGWRQSEDARAWKTFIGTVRVTTAAHLALLVAKNISFFP
SNVEQFSEGNIDVWWIVHDGGMLMLLPFLLKQHKVWRKCSIRIFTVAQLEDNSIQMKKDL
ATFLYHLRIEAEVEVVEMHDSDISAYTYERTLMMEQRSQMLRHMRLSKTERDREAQLVKD
RNSMLRLTSIGSDEDEETETYQEKVHMTWTKDKYMASRGQKAKSMEGFQDLLNMRPDQSN
VRRMHTAVKLNEVIVNKSHEAKLVLLNMPGPPRNPEGDENYMEFLEVLTEGLERVLLVRG
GGSEVITIYS
NT seq 3453 nt   +upstreamnt  +downstreamnt
atgcatcctccagaaaccaccaccaagatggcttcagttcggttcatggtgacaccgaca
aagatcgatgacattccaggtttgtcagacaccagtccggacctcagctctcgatctagt
tcccgagtaagatttagctcccgggaaagcgtgcctgaaacaagccggagtgagcctatg
agtgagatgtctggggccaccacttcgctggcaactgttgcactggatccacccagtgac
cggacttctcacccccaggatgtcatcgaggacctgagtcagaactccatcacaggggaa
cacagccaactgttagacgacggacataagaaagctcgaaatgcttatctcaataattcc
aattatgaagaaggagatgaatattttgataaaaatttggcactctttgaggaagaaatg
gacaccagaccgaaggtgtcttccctcctcaaccgcatggccaattacactaatctgact
caaggagcaaaggaacatgaagaggcagaaaacatcactgaagggaaaaagaagcccacc
aagaccccccaaatgggtaccttcatgggtgtctacctcccatgtctacaaaatattttt
ggagtgatcctttttttacgccttacatgggtggtgggcacagctggagttcttcaggct
tttgcaattgtccttatctgctgctgctgtacaatgttgactgctatctccatgagtgcc
attgccactaatggagtggtgccagctgggggctcatactttatgatttcccgggcactg
ggcccagagtttggtggggctgttggcctctgcttttatcttggtaccacatttgcagca
gccatgtacatccttggtgccattgaaatctttctggtctatatcgtcccccgagctgcc
atctttcacagtgatgacgcactcaaggaatcagcagccatgctaaataacatgcgtgtc
tacggcacagctttcttggtccttatggtattagtggtatttatcggcgtacgctatgtg
aacaagtttgcctcacttttcctggcctgtgtcattgtgtccatcttggccatctatgct
ggagccatcaagtcttcttttgctcctccacacttcccggtctgcatgctgggtaaccgc
accctttcatcaagacacattgacgtttgctctaagaccaaggaaattaacaacatgaca
gtcccatcaaagttatggggattcttctgtaactcgagtcaatttttcaatgccacctgt
gatgaatactttgttcacaataacgtcacttcaatccagggcattcctggattggctagt
ggtataattacagagaatctttggagtaattacctacccaagggagagatcatcgaaaag
ccttcagccaaatcttctgatgtcttaggcagcttaaaccatgaatatgttcttgttgac
atcaccacctccttcacgcttctggtgggaatcttctttccctctgttacaggtatcatg
gctggatcaaacagatctggagatctgaaagatgctcagaagtctattccgattggtact
atccttgccatcctgaccacctcctttgtttatttaagcaatgttgtcctttttggtgca
tgtattgaaggggttgttctcagagacaagttcggtgatgctgtgaaaggtaatttggtg
gtaggcaccttatcttggccatccccatgggtgattgttattggctccttcttttcaaca
tgtggggctggacttcagagcctcacaggtgcaccgaggctgctacaagctattgccaag
gataacatcataccgtttctgagggtttttggccacagcaaagccaatggggaacctacc
tgggctttacttctaactgctgccattgcagagcttggaatactcattgcctccctggat
cttgtggccccaattctttccatgttttttctcatgtgttacctctttgtaaacttggca
tgtgccttgcaaacattacttcgaacacccaactggagaccccgattccgctactaccat
tgggccctttctttcatgggaatgagtatctgtctggctctgatgttcatttcttcctgg
tattatgccattgtagccatggtaatagctggtatgatctacaagtacattgaataccaa
ggagctgagaaagaatggggtgatggtatccgtgggctgtccctcagtgcagcccggttt
gctttgcttcgattggaggaaggacctccacacactaaaaactggaggcctcagttgctt
gtattactgaaactagatgaagacttacatgtcaagcatcctcgcctcctcacctttgcc
tcacagctcaaagcaggaaaaggtctcactattgtgggctctgtcatcgtggggaacttc
ctagagaactacggtgaagctttagctgctgagcagaccataaagcacctaatggaggca
gagaaggtaaaaggattctgccagctggtggtggccgccaagctgagagagggcatttcc
cacctcatccagtcatgtggccttgggggcatgaagcacaacacggtggtgatgggctgg
cctaatggctggcgtcaaagcgaagatgcccgcgcttggaagacttttattggcacagtt
cgagtgacaactgctgcccatcttgcactgctggtggctaaaaacatctccttctttccc
agcaatgtggagcaattttctgagggcaacattgatgtgtggtggattgtgcatgatggg
gggatgcttatgctactaccattcctactgaaacagcacaaggtgtggcgaaagtgcagc
atacggatcttcacagtagcccaattagaagacaacagtatccaaatgaagaaggaccta
gccaccttcctatatcacttacgcattgaggcggaggtagaagtggtggagatgcatgac
agtgatatatcagcatatacttacgagcgcactttgatgatggaacaaaggtcccagatg
ctccggcacatgcggctatccaaaacagagcgagacagagaggcacaattggtgaaagac
cgaaactcaatgctacgattgaccagcattggctctgatgaggacgaagagacagaaacc
tatcaggagaaggtgcacatgacttggacaaaagacaagtacatggcatcccggggacaa
aaagcgaagtcaatggaaggattccaggacctgcttaacatgcgtccggaccagtccaat
gtgaggcggatgcatacagcagtgaaactcaacgaggttatagttaacaagtcccatgaa
gcaaagctggttttattgaatatgccagggccaccccgaaaccctgagggtgatgaaaac
tacatggagttcctagaggtgcttaccgagggactagagcgagtcctacttgtccggggt
ggtggcagtgaagtgatcaccatttattcataa

  All links  
Disease (3)   
   OMIM (3)   
Gene (19)   
   RefGene (13)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (15)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (13)   
DNA sequence (57)   
   RefSeq(nuc) (15)   
   GenBank (21)   
   EMBL (21)   
3D Structure (8)   
   PDB (8)   
Protein domain (3)   
   Pfam (3)   
All databases (105)   

Download RDF
DBGET integrated database retrieval system