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  
Ontology (2)   
   KEGG BRITE (2)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (20)   
   KEGG ORTHOLOGY (1)   
   RefGene (13)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (16)   
   UniProt (2)   
   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 (112)   

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