KEGG   Homo sapiens (human): 1182
Entry
1182              CDS       T01001                                 
Symbol
CLCN3, CLC3, ClC-3, NEDHYBA, NEDSBA
Name
(RefSeq) chloride voltage-gated channel 3
  KO
K05012  chloride channel 3/4/5
Organism
hsa  Homo sapiens (human)
Pathway
hsa04613  Neutrophil extracellular trap formation
Disease
H02397  Neurodevelopmental disorder with movement abnormalities or hypotonia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09151 Immune system
   04613 Neutrophil extracellular trap formation
    1182 (CLCN3)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    1182 (CLCN3)
Ion channels [BR:hsa04040]
 Chloride channels
  Chloride channel (CLC)
   1182 (CLCN3)
SSDB
Motif
Pfam: Voltage_CLC CBS
Other DBs
NCBI-GeneID: 1182
NCBI-ProteinID: NP_001820
OMIM: 600580
HGNC: 2021
Ensembl: ENSG00000109572
UniProt: P51790
Position
4:169620578..169723673
AA seq 818 aa
MESEQLFHRGYYRNSYNSITSASSDEELLDGAGVIMDFQTSEDDNLLDGDTAVGTHYTMT
NGGSINSSTHLLDLLDEPIPGVGTYDDFHTIDWVREKCKDRERHRRINSKKKESAWEMTK
SLYDAWSGWLVVTLTGLASGALAGLIDIAADWMTDLKEGICLSALWYNHEQCCWGSNETT
FEERDKCPQWKTWAELIIGQAEGPGSYIMNYIMYIFWALSFAFLAVSLVKVFAPYACGSG
IPEIKTILSGFIIRGYLGKWTLMIKTITLVLAVASGLSLGKEGPLVHVACCCGNIFSYLF
PKYSTNEAKKREVLSAASAAGVSVAFGAPIGGVLFSLEEVSYYFPLKTLWRSFFAALVAA
FVLRSINPFGNSRLVLFYVEYHTPWYLFELFPFILLGVFGGLWGAFFIRANIAWCRRRKS
TKFGKYPVLEVIIVAAITAVIAFPNPYTRLNTSELIKELFTDCGPLESSSLCDYRNDMNA
SKIVDDIPDRPAGIGVYSAIWQLCLALIFKIIMTVFTFGIKVPSGLFIPSMAIGAIAGRI
VGIAVEQLAYYHHDWFIFKEWCEVGADCITPGLYAMVGAAACLGGVTRMTVSLVVIVFEL
TGGLEYIVPLMAAVMTSKWVGDAFGREGIYEAHIRLNGYPFLDAKEEFTHTTLAADVMRP
RRNDPPLAVLTQDNMTVDDIENMINETSYNGFPVIMSKESQRLVGFALRRDLTIAIESAR
KKQEGIVGSSRVCFAQHTPSLPAESPRPLKLRSILDMSPFTVTDHTPMEIVVDIFRKLGL
RQCLVTHNGRLLGIITKKDILRHMAQTANQDPASIMFN
NT seq 2457 nt   +upstreamnt  +downstreamnt
atggagtctgagcagctgttccatagaggctactatagaaacagctacaacagtataaca
agtgcaagtagtgatgaggaacttttagatggagcaggtgttattatggactttcaaaca
tctgaagatgacaatttattagatggtgacactgcagttggaactcattatacaatgaca
aatggaggcagcattaacagttctacacatttactggatcttttggatgaaccaattcca
ggtgttggtacatatgatgatttccatactattgattgggtgcgagaaaaatgtaaagac
agagaaaggcatagacggatcaacagcaaaaagaaagaatcagcatgggaaatgacaaaa
agtttgtatgatgcgtggtcaggatggctagtagtaacactaacaggattggcatcaggg
gcactggccggattaatagacattgctgccgattggatgactgacctaaaggagggcatt
tgccttagtgcgttgtggtacaaccacgaacagtgctgttggggatctaatgaaacaaca
tttgaagagagggataaatgtccacagtggaaaacatgggcagaattaatcataggtcaa
gcagagggtcctggttcttatatcatgaactacataatgtacatcttctgggccttgagt
tttgcctttcttgcagtttccctggtaaaggtatttgctccatatgcctgtggctctgga
attccagagattaaaactattttaagtggattcatcatcagaggttacttgggaaaatgg
actttaatgattaaaaccatcacattagtcctggctgtggcatcaggtttgagtttagga
aaagaaggtcccctggtacatgttgcctgttgctgcggaaatatcttttcctacctcttt
ccaaagtatagcacaaacgaagctaaaaaaagggaggtgctatcagctgcctcagctgca
ggggtttctgtagcttttggtgcaccaattggaggagttctttttagcctggaagaggtt
agctattattttcctctcaaaactttatggagatcattttttgctgctttagtggctgca
tttgttttgaggtccatcaatccatttggtaacagccgtctggtccttttttatgtggag
tatcatacaccatggtacctttttgaactgtttccttttattcttctaggggtatttgga
gggctttggggagcctttttcattagggcaaatattgcctggtgtcgtcgacgcaagtcc
acgaaatttggaaagtatcccgttctggaagtcattattgttgcagccattactgctgtg
atagccttccctaatccatacactaggctaaacaccagtgaactgatcaaagagcttttt
acagactgtggtcccctggaatcctcttctctttgtgactacagaaatgacatgaatgcc
agtaaaattgtcgatgacattcctgatcgtccagcaggcattggagtatattcagctata
tggcagttatgcctggcactcatatttaaaatcataatgacagtattcacttttggcatc
aaggttccatcaggcttgttcatccccagcatggccattggagcgatcgcaggaaggatt
gtggggattgcggtggagcagcttgcctactatcaccacgactggtttatctttaaggag
tggtgtgaggtcggggctgattgcattacacctggcctttatgccatggttggtgctgct
gcatgcttaggtggtgtgacaagaatgactgtctccctggtggttattgtttttgagctt
actggaggcttggaatatattgttccccttatggctgcagtcatgaccagtaaatgggtt
ggagatgcctttggcagggaaggcatttatgaagcacacatccgattaaatggataccct
ttcttggatgcaaaagaagaattcactcataccaccctggctgctgacgttatgagacct
cgaaggaatgatcctcccttagctgtcctgacacaggacaatatgacagtggatgatata
gaaaacatgattaatgaaaccagctacaatggatttcctgtcataatgtcaaaagaatct
cagagattagtgggatttgccctcagaagagacctgacaattgcaatagaaagtgccagg
aaaaaacaagaaggtatcgttggcagttctcgggtgtgttttgcacagcacaccccatct
cttccagcagaaagtcctcggccattgaagcttcgaagcattcttgacatgagccctttt
acagtgacagaccacaccccaatggagatcgtggtggatattttccgaaagctgggactg
aggcagtgccttgtaactcacaatgggcgcctccttggcattataacaaaaaaagatatc
ctccggcatatggcccagacggcaaaccaagaccccgcttcaataatgttcaactga

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