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
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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: AA_permease SLC12 AA_permease_2
Motif
Other DBs
NCBI-GeneID: 57468
NCBI-ProteinID: NP_001128243
OMIM: 606726
HGNC: 13818
Ensembl: ENSG00000124140
Vega: OTTHUMG00000032638
Pharos: Q9H2X9(Tbio)
UniProt: Q9H2X9
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

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