KEGG   Homo sapiens (human): 57468Help
Entry
57468             CDS       T01001                                 

Gene name
SLC12A5, EIEE34, EIG14, KCC2, hKCC2
Definition
(RefSeq) solute carrier family 12 member 5
  KO
K14427  
solute carrier family 12 (potassium/chloride transporter), member 4/5/6
Organism
hsa  Homo sapiens (human)
Pathway
GABAergic synapse
Disease
H00606  
Early infantile epileptic encephalopathy
H01815  
Malignant migrating partial seizures in infancy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Organismal Systems
  Nervous system
   04727 GABAergic synapse
    57468 (SLC12A5)
Transporters [BR:hsa02000]
 Solute Carrier Family (SLC)
  SLC12: Electroneutral cation-coupled Cl cotransporter
   57468 (SLC12A5)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
Q9H2X9(Tbio)
UniProt: 
Position
20q13.12
AA seq 1139 aa AA seqDB search
MSRRFTVTSLPPAGPARSPDPESRRHSVADPRHLPGEDVKGDGNPKESSPFINSTDTEKG
KEYDGKNMALFEEEMDTSPMVSSLLSGLANYTNLPQGSREHEEAENNEGGKKKPVQAPRM
GTFMGVYLPCLQNIFGVILFLRLTWVVGIAGIMESFCMVFICCSCTMLTAISMSAIATNG
VVPAGGSYYMISRSLGPEFGGAVGLCFYLGTTFAGAMYILGTIEILLAYLFPAMAIFKAE
DASGEAAAMLNNMRVYGTCVLTCMATVVFVGVKYVNKFALVFLGCVILSILAIYAGVIKS
AFDPPNFPICLLGNRTLSRHGFDVCAKLAWEGNETVTTRLWGLFCSSRFLNATCDEYFTR
NNVTEIQGIPGAASGLIKENLWSSYLTKGVIVERSGMTSVGLADGTPIDMDHPYVFSDMT
SYFTLLVGIYFPSVTGIMAGSNRSGDLRDAQKSIPTGTILAIATTSAVYISSVVLFGACI
EGVVLRDKFGEAVNGNLVVGTLAWPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAISRDG
IVPFLQVFGHGKANGEPTWALLLTACICEIGILIASLDEVAPILSMFFLMCYMFVNLACA
VQTLLRTPNWRPRFRYYHWTLSFLGMSLCLALMFICSWYYALVAMLIAGLIYKYIEYRGA
EKEWGDGIRGLSLSAARYALLRLEEGPPHTKNWRPQLLVLVRVDQDQNVVHPQLLSLTSQ
LKAGKGLTIVGSVLEGTFLENHPQAQRAEESIRRLMEAEKVKGFCQVVISSNLRDGVSHL
IQSGGLGGLQHNTVLVGWPRNWRQKEDHQTWRNFIELVRETTAGHLALLVTKNVSMFPGN
PERFSEGSIDVWWIVHDGGMLMLLPFLLRHHKVWRKCKMRIFTVAQMDDNSIQMKKDLTT
FLYHLRITAEVEVVEMHESDISAYTYEKTLVMEQRSQILKQMHLTKNEREREIQSITDES
RGSIRRKNPANTRLRLNVPEETAGDSEEKPEEEVQLIHDQSAPSCPSSSPSPGEEPEGEG
ETDPEKVHLTWTKDKSVAEKNKGPSPVSSEGIKDFFSMKPEWENLNQSNVRRMHTAVRLN
EVIVKKSRDAKLVLLNMPGPPRNRNGDENYMEFLEVLTEHLDRVMLVRGGGREVITIYS
NT seq 3420 nt NT seq  +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
ctgaaggcagggaagggcctgaccatcgtgggctctgtccttgagggcacctttctggaa
aatcatccacaggcccagcgggcagaagagtctatcaggcgcctgatggaggcagagaag
gtgaagggcttctgccaggtggtgatctcctccaacttgcgtgatggcgtgtcccatctg
atccagtccgggggcctcggggggctgcagcacaacactgtgcttgttggctggccccgc
aactggcgccagaaggaagatcatcagacgtggaggaacttcattgagctggtccgggaa
accacagctggccacttagccctgctggtcaccaagaacgtttccatgtttcctgggaac
cctgagcgcttctctgagggcagcatcgacgtttggtggattgtgcacgatggaggcatg
ctcatgctgctgcccttcctgctgcggcaccacaaggtctggcggaagtgcaagatgcgt
atcttcactgtggcccagatggatgacaatagcatccagatgaagaaggatctgaccaca
tttctgtatcatttacgcatcactgcggaggtcgaggtggtggagatgcatgagagcgac
atctcagcttacacctatgagaagacgttggtgatggagcagcgttcccagatcctcaaa
cagatgcatttaaccaagaatgagcgggagcgggagatccagagtatcacagatgagtca
cgaggctcaatccggagaaagaatccagccaacacgcggctccgcctgaacgtcccagaa
gagacggctggtgacagtgaagagaagccagaggaggaggtgcagctgatccacgatcag
agtgctcccagctgccccagcagctccccgtccccaggggaggagcctgagggggaaggg
gagacagatccggagaaggtgcatctcacctggaccaaggacaagtcggtggcagagaag
aataagggccccagtcctgtctcctctgagggcatcaaggacttcttcagcatgaagccg
gagtgggagaacttgaaccagtccaacgtgcggcgcatgcacacggccgtgcggctgaac
gaggtcatcgtgaagaaatcccgggacgccaagcttgttttgctcaacatgcctgggcct
ccccgcaaccgcaatggtgatgaaaactacatggagtttctcgaggtcctcacagagcac
ctggaccgggtgatgctggtccgcggcggcggccgcgaggtcatcaccatctactcctga

DBGET integrated database retrieval system