Homo sapiens (human): 57468
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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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
AA_permease
SLC12
AA_permease_2
Motif
Other DBs
NCBI-GeneID:
57468
NCBI-ProteinID:
NP_001128243
OMIM:
606726
HGNC:
13818
Ensembl:
ENSG00000124140
UniProt:
Q9H2X9
Structure
PDB
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All DBs
Position
20:46021686..46060150
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AA seq
1139 aa
AA seq
DB 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
+upstream
nt +downstream
nt
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
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integrated database retrieval system