Entry |
|
Symbol |
CLCN5, CLC5, CLCK2, ClC-5, DENT1, DENTS, NPHL1, NPHL2, XLRH, XRN, hCIC-K2
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Name |
(RefSeq) chloride voltage-gated channel 5
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KO |
|
Organism |
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Pathway |
hsa04613 | Neutrophil extracellular trap formation |
|
Disease |
H00214 | Hypophosphatemic rickets |
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 |
|
Other DBs |
|
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 |