KEGG   Homo sapiens (human): 1181
Entry
1181              CDS       T01001                                 

Gene name
CLCN2, CIC-2, CLC2, ECA2, ECA3, EGI11, EGI3, EGMA, EJM6, EJM8, HALD2, LKPAT, clC-2
Definition
(RefSeq) chloride voltage-gated channel 2
  KO
K05011  chloride channel 2
Organism
hsa  Homo sapiens (human)
Pathway
hsa04978  Mineral absorption
Disease
H00808  Idiopathic generalized epilepsies
H02216  Juvenile absence epilepsy
H02217  Juvenile myoclonic epilepsy
Drug target
Lubiprostone: D04790
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09154 Digestive system
   04978 Mineral absorption
    1181 (CLCN2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    1181 (CLCN2)
Ion channels [BR:hsa04040]
 Chloride channels
  Chloride channel (CLC)
   1181 (CLCN2)
SSDB
Motif
Pfam: Voltage_CLC CBS
Other DBs
NCBI-GeneID: 1181
NCBI-ProteinID: NP_004357
OMIM: 600570
HGNC: 2020
Ensembl: ENSG00000114859
Vega: OTTHUMG00000156747
Pharos: P51788(Tclin)
UniProt: P51788
LinkDB
Position
3q27.1
AA seq 898 aa
MAAAAAEEGMEPRALQYEQTLMYGRYTQDLGAFAKEEAARIRLGGPEPWKGPPSSRAAPE
LLEYGRSRCARCRVCSVRCHKFLVSRVGEDWIFLVLLGLLMALVSWVMDYAIAACLQAQQ
WMSRGLNTSILLQYLAWVTYPVVLITFSAGFTQILAPQAVGSGIPEMKTILRGVVLKEYL
TLKTFIAKVIGLTCALGSGMPLGKEGPFVHIASMCAALLSKFLSLFGGIYENESRNTEML
AAACAVGVGCCFAAPIGGVLFSIEVTSTFFAVRNYWRGFFAATFSAFIFRVLAVWNRDEE
TITALFKTRFRLDFPFDLQELPAFAVIGIASGFGGALFVYLNRKIVQVMRKQKTINRFLM
RKRLLFPALVTLLISTLTFPPGFGQFMAGQLSQKETLVTLFDNRTWVRQGLVEELEPPST
SQAWNPPRANVFLTLVIFILMKFWMSALATTIPVPCGAFMPVFVIGAAFGRLVGESMAAW
FPDGIHTDSSTYRIVPGGYAVVGAAALAGAVTHTVSTAVIVFELTGQIAHILPVMIAVIL
ANAVAQSLQPSLYDSIIRIKKLPYLPELGWGRHQQYRVRVEDIMVRDVPHVALSCTFRDL
RLALHRTKGRMLALVESPESMILLGSIERSQVVALLGAQLSPARRRQHMQERRATQTSPL
SDQEGPPTPEASVCFQVNTEDSAFPAARGETHKPLKPALKRGPSVTRNLGESPTGSAESA
GIALRSLFCGSPPPEAASEKLESCEKRKLKRVRISLASDADLEGEMSPEEILEWEEQQLD
EPVNFSDCKIDPAPFQLVERTSLHKTHTIFSLLGVDHAYVTSIGRLIGIVTLKELRKAIE
GSVTAQGVKVRPPLASFRDSATSSSDTETTEVHALWGPHSRHGLPREGSPSDSDDKCQ
NT seq 2697 nt   +upstreamnt  +downstreamnt
atggcggccgcggcggcggaggaagggatggagccacgggcgctgcagtacgagcagacc
ctgatgtatggccggtacactcaggaccttggggcctttgccaaagaggaagctgctcgg
attcgcctgggagggcctgaaccctggaaaggtcccccttcctctcgggctgccccagag
ctcttggaatatggacggagccgttgcgcccgatgccgcgtctgttctgtccgctgccac
aagttcctagtatccagggttggtgaagattggatcttcctggtcctgctggggcttctc
atggcattggtcagctgggtcatggactatgccattgctgcctgtctgcaagcccagcag
tggatgtcccggggcttgaacaccagcatcttgctccagtacctggcctgggtcacctac
cctgttgtcctcatcactttctcagccggattcacacagatcctggcccctcaggctgtc
ggctctggcatccctgagatgaagaccatcttgcggggagtggtgctgaaagaatacctc
acactcaagacctttatagctaaggtcattgggctgacctgcgccctaggcagcgggatg
ccgcttggcaaagagggcccttttgtgcatatcgcaagcatgtgtgctgcccttctcagc
aagttcctctccctctttgggggtatctatgagaatgaatcccggaacacagagatgctg
gctgccgcctgtgccgtgggggtgggctgctgcttcgcggcacctattggaggcgtcctc
ttcagcatcgaggtcacctccaccttctttgcagtgcggaactactggcggggcttcttc
gctgccaccttcagtgccttcatcttccgggtcttggcagtctggaaccgggatgaagag
actattacagccctcttcaaaacccgattccggctcgacttcccctttgacctgcaggag
ctgccagcctttgctgtcattggtattgctagtggcttcggtggagccctctttgtctac
ctgaaccggaagattgtccaggtgatgcggaagcagaaaaccatcaatcgcttcctcatg
aggaaacgcctgctcttcccggctctggtgaccctgctcatctccacgctgaccttcccc
cctggctttggacagttcatggctggacagctctcacagaaagagacgctggtcaccctg
tttgacaatcggacgtgggtccgccagggcctggtggaggagctagaaccacccagcacc
tcacaggcctggaacccaccacgtgccaacgtcttcctcaccctggtcatcttcattctc
atgaagttctggatgtctgcactggccaccaccatcccagttccctgtggggccttcatg
cctgtctttgtcattggagcagcatttgggcgtctggtgggtgaaagcatggctgcctgg
ttcccagatggaattcatacggacagcagcacctaccggattgtgcctgggggctacgct
gtggtcggggcagctgcgctggcaggagcggtgacacacacagtgtccacggctgtgatc
gtgttcgagctcacaggccagattgcccacatcctgcctgtcatgatcgccgtcatcctg
gccaacgctgtcgcccagagtctgcagccctccctctatgacagcatcatccgaatcaag
aaactgccctacctgcctgagctcggctggggccgccaccagcagtaccgggtgcgtgtg
gaggacatcatggtgcgggatgttccccatgtggccctcagctgcaccttccgggacctg
cgtttggcactgcacaggaccaagggccgaatgctggccctagtggagtcccctgagtcc
atgattctgctgggctccatcgagcgttcacaggtggtggcattgttgggggcccagctg
agcccagcccgccggcggcagcacatgcaggagcgcagagccacccagacctctccacta
tctgatcaggagggtccccctacccctgaggcttctgtctgcttccaggtgaacacagaa
gactcagccttcccagcagcccggggggagacccacaagcccctaaagcctgcactcaag
agggggcccagtgtcaccaggaacctcggagagagtcccacagggagcgcagagtcggca
ggcatcgccctccggagcctcttctgtggcagtccaccccctgaggctgcttcggagaag
ttggaatcctgtgagaagcgcaagctgaagcgtgtccgaatctccctggcaagtgacgcg
gacctggaaggcgagatgagccctgaagagattctggagtgggaggagcagcaactagat
gaacctgtcaacttcagtgactgcaaaattgatcctgctcccttccagctggtggagcgg
acctctttgcacaagactcacactatcttctcactgctgggagtggaccatgcttatgtc
accagtattggcagactcattggaatcgttactctaaaggagctccggaaggccatcgag
ggctctgtcacagcacagggtgtgaaagtccggccgcccctcgccagcttccgagacagt
gccaccagcagcagtgacacggagaccactgaggtgcatgcactctgggggccccactcc
cgtcatggcctcccccgggagggcagcccttccgacagcgacgacaaatgccaatga

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