KEGG   Homo sapiens (human): 1184
Entry
1184              CDS       T01001                                 
Symbol
CLCN5, CLC5, CLCK2, ClC-5, DENT1, DENTS, NPHL1, NPHL2, XLRH, XRN, hCIC-K2
Name
(RefSeq) chloride voltage-gated channel 5
  KO
K05012  chloride channel 3/4/5
Organism
hsa  Homo sapiens (human)
Pathway
hsa04613  Neutrophil extracellular trap formation
Disease
H00214  Hypophosphatemic rickets
H00694  Dent disease
H02142  X-linked recessive hypophosphatemic rickets
H02147  X-linked recessive nephrolithiasis with renal failure
H02148  Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis
H02149  X-linked hypercalciuric nephrolithiasis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09151 Immune system
   04613 Neutrophil extracellular trap formation
    1184 (CLCN5)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    1184 (CLCN5)
Ion channels [BR:hsa04040]
 Chloride channels
  Chloride channel (CLC)
   1184 (CLCN5)
SSDB
Motif
Pfam: Voltage_CLC CBS
Other DBs
NCBI-GeneID: 1184
NCBI-ProteinID: NP_001121370
OMIM: 300008
HGNC: 2023
Ensembl: ENSG00000171365
UniProt: P51795
Structure
Position
X:49922596..50099230
AA seq 816 aa
MAMWQGAMDNRGFQQGSFSSFQNSSSDEDLMDIPATAMDFSMRDDVPPLDREVGEDKSYN
GGGIGSSNRIMDFLEEPIPGVGTYDDFNTIDWVREKSRDRDRHREITNKSKESTWALIHS
VSDAFSGWLLMLLIGLLSGSLAGLIDISAHWMTDLKEGICTGGFWFNHEHCCWNSEHVTF
EERDKCPEWNSWSQLIISTDEGAFAYIVNYFMYVLWALLFAFLAVSLVKVFAPYACGSGI
PEIKTILSGFIIRGYLGKWTLVIKTITLVLAVSSGLSLGKEGPLVHVACCCGNILCHCFN
KYRKNEAKRREVLSAAAAAGVSVAFGAPIGGVLFSLEEVSYYFPLKTLWRSFFAALVAAF
TLRSINPFGNSRLVLFYVEFHTPWHLFELVPFILLGIFGGLWGALFIRTNIAWCRKRKTT
QLGKYPVIEVLVVTAITAILAFPNEYTRMSTSELISELFNDCGLLDSSKLCDYENRFNTS
KGGELPDRPAGVGVYSAMWQLALTLILKIVITIFTFGMKIPSGLFIPSMAVGAIAGRLLG
VGMEQLAYYHQEWTVFNSWCSQGADCITPGLYAMVGAAACLGGVTRMTVSLVVIMFELTG
GLEYIVPLMAAAMTSKWVADALGREGIYDAHIRLNGYPFLEAKEEFAHKTLAMDVMKPRR
NDPLLTVLTQDSMTVEDVETIISETTYSGFPVVVSRESQRLVGFVLRRDLIISIENARKK
QDGVVSTSIIYFTEHSPPLPPYTPPTLKLRNILDLSPFTVTDLTPMEIVVDIFRKLGLRQ
CLVTHNGRLLGIITKKDVLKHIAQMANQDPDSILFN
NT seq 2451 nt   +upstreamnt  +downstreamnt
atggccatgtggcagggtgccatggataacagaggctttcagcaggggagttttagtagc
ttccagaacagctccagtgatgaagacctgatggacattccagcaaccgctatggatttc
tccatgagagatgatgttcctcccttagaccgagaagtaggagaggacaagtcgtacaat
ggtggaggaataggttcttcaaataggatcatggacttcttggaggagccaatccctggt
gtagggacctatgatgatttcaatacaattgattgggtgagagagaagtctcgagaccgg
gataggcaccgagagattaccaataaaagcaaagagtcaacatgggccttaattcacagt
gtgagtgatgctttttccggctggttgttgatgctccttattgggcttttatcaggttcg
ttagctggtttgatagacatctctgctcattggatgacagacttaaaagaaggtatatgc
acagggggattctggtttaaccatgaacattgttgctggaactctgagcatgtcaccttt
gaagagagagacaaatgtccagagtggaatagttggtcccagcttatcatcagcacagat
gagggagcctttgcctacatagtcaattatttcatgtacgtcctctgggctctcctattt
gccttccttgccgtatctcttgtcaaggtgtttgcgccttatgcctgtggctctggaatc
cctgagataaaaactatcttgagtggtttcattattaggggctatttgggtaagtggact
ctggttatcaaaaccatcaccttggtgctggcagtgtcatctggcttgagcctgggcaaa
gagggccctctagtgcacgtggcttgctgctgtgggaacatcctgtgccactgcttcaac
aaatacaggaagaatgaagccaagcgcagagaggtcttgtcggctgcagcagcagctggt
gtatctgtagcctttggagcacctataggtggagtattattcagccttgaagaggtcagc
tactattttcccctcaaaacattgtggcgttcattctttgctgccttggtggcagcattc
actctacgctccatcaatccatttgggaacagccgcctggtactattttatgtggagttt
cacaccccatggcatctctttgagctcgtgccattcattctgctgggcatatttggtggt
ctgtggggagcactgtttatccgcacaaacattgcctggtgtcggaagcgaaagaccacc
cagttgggcaagtatcctgttatagaggtactcgtcgtgacagccatcactgccatcctg
gctttccccaatgaatacactcggatgagcacaagtgagctcatttctgagctgtttaat
gactgtggccttctggactcctccaagctctgtgattatgagaaccgtttcaacacaagc
aaagggggtgaactgcctgacagaccggctggcgtgggagtctacagtgcaatgtggcag
ctggctttaacactcatactgaaaattgtcattactatattcacctttggcatgaagatc
ccttctggcctctttatccctagcatggctgttggtgctatagcaggtcgacttctagga
gtaggaatggaacagctggcttattaccaccaggaatggaccgtcttcaatagctggtgt
agtcagggagctgattgcatcacccccggcctttatgcaatggttggggctgcagcctgc
ttaggtggggtgactcggatgactgtttctcttgttgtcataatgtttgaactgactggt
ggcttagaatacatcgtgcctctgatggctgcagccatgacaagcaagtgggtggcagat
gctcttgggcgggagggcatctatgatgcccacatccgtctcaatggatacccctttctt
gaagccaaagaagagtttgctcataagaccctggcaatggatgtgatgaaaccccggaga
aatgatcctttgttgactgtccttactcaggacagtatgactgtggaagatgtagagacc
ataatcagtgaaaccacttacagtggcttcccagtggtggtatcccgggagtcccaaaga
cttgtgggctttgtcctccgaagagatctcattatttcaattgaaaatgctcgaaagaaa
caggatggggttgttagcacttccatcatttatttcacggagcattctcctccattgcca
ccatacactccacccactctaaagcttcggaacatcctcgatctcagccccttcactgtg
actgaccttacacccatggagatcgtagtggatattttccgaaagctgggactgcggcag
tgcctggttacacacaacgggcgattgcttggaatcattaccaaaaaggatgtgttaaag
catatagcacagatggcgaaccaagatcctgattccattctcttcaactag

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