KEGG   Homo sapiens (human): 57468
Entry
57468             CDS       T01001                                 
Symbol
SLC12A5, DEE34, EIEE34, EIG14, KCC2, hKCC2
Name
(RefSeq) solute carrier family 12 member 5
  KO
K23967  solute carrier family 12 (potassium/chloride transporter), member 5
Organism
hsa  Homo sapiens (human)
Pathway
hsa04727  GABAergic synapse
Disease
H00606  Early infantile epileptic encephalopathy
H00808  Idiopathic generalized epilepsies
H01815  Malignant migrating partial seizures in infancy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09156 Nervous system
   04727 GABAergic synapse
    57468 (SLC12A5)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    57468 (SLC12A5)
Transporters [BR:hsa02000]
 Solute carrier family (SLC)
  SLC12: Electroneutral cation-coupled Cl cotransporter
   57468 (SLC12A5)
SSDB
Motif
Pfam: AA_permease SLC12 AA_permease_2
Other DBs
NCBI-GeneID: 57468
NCBI-ProteinID: NP_001128243
OMIM: 606726
HGNC: 13818
Ensembl: ENSG00000124140
UniProt: Q9H2X9
Structure
Position
20:46021686..46060150
AA seq 1139 aa
MSRRFTVTSLPPAGPARSPDPESRRHSVADPRHLPGEDVKGDGNPKESSPFINSTDTEKG
KEYDGKNMALFEEEMDTSPMVSSLLSGLANYTNLPQGSREHEEAENNEGGKKKPVQAPRM
GTFMGVYLPCLQNIFGVILFLRLTWVVGIAGIMESFCMVFICCSCTMLTAISMSAIATNG
VVPAGGSYYMISRSLGPEFGGAVGLCFYLGTTFAGAMYILGTIEILLAYLFPAMAIFKAE
DASGEAAAMLNNMRVYGTCVLTCMATVVFVGVKYVNKFALVFLGCVILSILAIYAGVIKS
AFDPPNFPICLLGNRTLSRHGFDVCAKLAWEGNETVTTRLWGLFCSSRFLNATCDEYFTR
NNVTEIQGIPGAASGLIKENLWSSYLTKGVIVERSGMTSVGLADGTPIDMDHPYVFSDMT
SYFTLLVGIYFPSVTGIMAGSNRSGDLRDAQKSIPTGTILAIATTSAVYISSVVLFGACI
EGVVLRDKFGEAVNGNLVVGTLAWPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAISRDG
IVPFLQVFGHGKANGEPTWALLLTACICEIGILIASLDEVAPILSMFFLMCYMFVNLACA
VQTLLRTPNWRPRFRYYHWTLSFLGMSLCLALMFICSWYYALVAMLIAGLIYKYIEYRGA
EKEWGDGIRGLSLSAARYALLRLEEGPPHTKNWRPQLLVLVRVDQDQNVVHPQLLSLTSQ
LKAGKGLTIVGSVLEGTFLENHPQAQRAEESIRRLMEAEKVKGFCQVVISSNLRDGVSHL
IQSGGLGGLQHNTVLVGWPRNWRQKEDHQTWRNFIELVRETTAGHLALLVTKNVSMFPGN
PERFSEGSIDVWWIVHDGGMLMLLPFLLRHHKVWRKCKMRIFTVAQMDDNSIQMKKDLTT
FLYHLRITAEVEVVEMHESDISAYTYEKTLVMEQRSQILKQMHLTKNEREREIQSITDES
RGSIRRKNPANTRLRLNVPEETAGDSEEKPEEEVQLIHDQSAPSCPSSSPSPGEEPEGEG
ETDPEKVHLTWTKDKSVAEKNKGPSPVSSEGIKDFFSMKPEWENLNQSNVRRMHTAVRLN
EVIVKKSRDAKLVLLNMPGPPRNRNGDENYMEFLEVLTEHLDRVMLVRGGGREVITIYS
NT seq 3420 nt   +upstreamnt  +downstreamnt
atgagccgcaggttcacggtcacctcgctgccccccgcagggcccgccagaagccctgac
ccagagtcccgccggcattcggtcgcagacccccgccacctcccgggggaagacgtcaaa
ggtgatggcaaccccaaggaaagcagtcccttcatcaacagcaccgacacagagaaggga
aaggagtatgatggcaagaacatggccttgtttgaggaggagatggacaccagccctatg
gtgtcctccttgctcagtggcctggccaactacaccaacctgccccagggaagtagggag
catgaagaggcagaaaacaatgagggtggaaaaaagaagccggtgcaggccccacgcatg
ggcaccttcatgggcgtgtacctgccgtgcctgcagaacatctttggcgtcatcctcttc
ctgcggctcacctgggtggtgggcattgcaggcatcatggagtccttctgcatggtgttc
atctgctgctcctgtacgatgctcacggccatctccatgagtgcaattgcaacgaatggt
gttgtgcctgctggtggctcctactacatgatttccaggtctctgggcccagagtttggg
ggtgccgtgggcctctgcttctacctgggcactacctttgcaggagccatgtacatcctg
ggcaccatcgaaatcctgctggcttacctcttcccagccatggccatcttcaaggcagaa
gatgccagtggggaggcagcagccatgctgaacaacatgcgtgtttacggcacctgtgtg
ctcacctgcatggccactgtggtgtttgtgggtgtcaagtatgtcaacaagtttgccctt
gtcttcctgggttgtgtcatcctctccatcctggccatctatgctggggtcatcaagtct
gccttcgacccacccaacttcccgatctgcctcctgggtaaccgcacgctgtctcgccat
ggctttgatgtctgtgccaagctggcttgggaaggaaatgagacggtgaccacacggcta
tggggccttttctgctcctctcgcttcctcaacgccacctgtgatgaatacttcacccga
aacaatgtcacagagatccagggcatccctggtgctgccagtggcctcatcaaagagaac
ctctggagctcctacctgaccaagggcgtgattgtggagaggagtgggatgacctcggtg
ggcctggccgatggcactcctatcgacatggaccacccttatgtcttcagtgatatgacc
tcctacttcaccctgctggttggcatctacttcccctcagtcacagggatcatggctggt
tctaaccgctctggggacctgagggatgcccagaagtcaatccccactggcaccatcctg
gccatcgccaccacctctgctgtctacatcagctccgttgttctgtttggggcctgcatt
gagggggtcgtcctgcgggacaagtttggcgaagctgtgaatggcaacctcgtggtgggc
actctggcctggccatctccatgggtaattgtcatcggatccttcttctccacctgtggg
gctgggctgcagagcctcacgggggccccacgcctgctgcaggccatctcgagggatggc
attgtgcccttcctgcaggtctttggccatggcaaggccaatggagagccgacctgggcc
ctgctcctgactgcctgcatctgcgagattggcatcctcattgcatccctcgacgaggtg
gcccccatcctctctatgttcttcctgatgtgctacatgtttgtgaatctggcctgtgca
gtgcagacgctgctgaggacacccaactggaggccacgctttcgatattaccactggacc
ctctccttcctgggcatgagcctctgcctggccctcatgttcatctgctcctggtattat
gcactggtagccatgctcattgctggactcatctacaagtacattgagtaccgtggggca
gagaaggagtggggcgatgggatacgaggtctgtctctcagtgcggctcgctatgccctc
ttacgcctggaggaagggcccccacacaccaagaactggaggccacagctgctggtgctg
gtgcgtgtggaccaagaccagaatgtggtgcacccccagctgctctcactgacctcccag
ctgaaggcggggaagggcctgaccatcgtgggctctgtccttgagggcacctttctggaa
aatcatccacaggcccagcgggcagaagagtctatcaggcgcctgatggaggcagagaag
gtgaagggcttctgccaggtggtgatctcctccaacttgcgtgatggcgtgtcccatctg
atccagtccgggggcctcggggggctgcagcacaacactgtgcttgttggctggccccgc
aactggcgccagaaggaagatcatcagacgtggaggaacttcattgagctggtccgggaa
accacagctggccacttagccctgctggtcaccaagaacgtttccatgtttcctgggaac
cctgagcgcttctctgagggcagcatcgacgtttggtggattgtgcacgatggaggcatg
ctcatgctgctgcccttcctgctgcggcaccacaaggtctggcggaagtgcaagatgcgt
atcttcactgtggcccagatggatgacaatagcatccagatgaagaaggatctgaccaca
tttctgtatcatttacgcatcactgcggaggtcgaggtggtggagatgcatgagagcgac
atctcagcttacacctatgagaagacgttggtgatggagcagcgttcccagatcctcaaa
cagatgcatttaaccaagaatgagcgggagcgggagatccagagtatcacagatgagtca
cgaggctcaatccggagaaagaatccagccaacacgcggctccgcctgaacgtcccagaa
gagacggctggtgacagtgaagagaagccagaggaggaggtgcagctgatccacgatcag
agtgctcccagctgccccagcagctccccgtccccaggggaggagcctgagggggaaggg
gagacagatccggagaaggtgcatctcacctggaccaaggacaagtcggtggcagagaag
aataagggccccagtcctgtctcctctgagggcatcaaggacttcttcagcatgaagccg
gagtgggagaacttgaaccagtccaacgtgcggcgcatgcacacggccgtgcggctgaac
gaggtcatcgtgaagaaatcccgggacgccaagcttgttttgctcaacatgcctgggcct
ccccgcaaccgcaatggtgatgaaaactacatggagtttctcgaggtcctcacagagcac
ctggaccgggtgatgctggtccgcggcggcggccgcgaggtcatcaccatctactcctga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (6)   
   KEGG DISEASE (3)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (12)   
   KEGG ORTHOLOGY (1)   
   RefGene (5)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (4)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (50)   
   RefSeq(nuc) (2)   
   GenBank (24)   
   EMBL (24)   
3D Structure (2)   
   PDB (2)   
Protein domain (3)   
   Pfam (3)   
All databases (81)   

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