KEGG   Homo sapiens (human): 1186
Entry
1186              CDS       T01001                                 

Gene name
CLCN7, CLC-7, CLC7, HOD, OPTA2, OPTB4, PPP1R63
Definition
(RefSeq) chloride voltage-gated channel 7
  KO
K05016  chloride channel 7
Organism
hsa  Homo sapiens (human)
Disease
H00436  Osteopetrosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01009 Protein phosphatases and associated proteins [BR:hsa01009]
    1186 (CLCN7)
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    1186 (CLCN7)
Protein phosphatases and associated proteins [BR:hsa01009]
 Protein serine/threonine phosphatases
  Phosphoprotein phosphatases (PPPs)
   Protein phosphatase-1
    PP1-interacting proteins (PIPs)
     1186 (CLCN7)
Ion channels [BR:hsa04040]
 Chloride channels
  Chloride channel (CLC)
   1186 (CLCN7)
SSDB
Motif
Pfam: Voltage_CLC CBS
Other DBs
NCBI-GeneID: 1186
NCBI-ProteinID: NP_001278
OMIM: 602727
HGNC: 2025
Ensembl: ENSG00000103249
Vega: OTTHUMG00000044467
Pharos: P51798(Tbio)
UniProt: P51798
Position
16p13.3
AA seq 805 aa
MANVSKKVSWSGRDRDDEEAAPLLRRTARPGGGTPLLNGAGPGAARQSPRSALFRVGHMS
SVELDDELLDPDMDPPHPFPKEIPHNEKLLSLKYESLDYDNSENQLFLEEERRINHTAFR
TVEIKRWVICALIGILTGLVACFIDIVVENLAGLKYRVIKGNIDKFTEKGGLSFSLLLWA
TLNAAFVLVGSVIVAFIEPVAAGSGIPQIKCFLNGVKIPHVVRLKTLVIKVSGVILSVVG
GLAVGKEGPMIHSGSVIAAGISQGRSTSLKRDFKIFEYFRRDTEKRDFVSAGAAAGVSAA
FGAPVGGVLFSLEEGASFWNQFLTWRIFFASMISTFTLNFVLSIYHGNMWDLSSPGLINF
GRFDSEKMAYTIHEIPVFIAMGVVGGVLGAVFNALNYWLTMFRIRYIHRPCLQVIEAVLV
AAVTATVAFVLIYSSRDCQPLQGGSMSYPLQLFCADGEYNSMAAAFFNTPEKSVVSLFHD
PPGSYNPLTLGLFTLVYFFLACWTYGLTVSAGVFIPSLLIGAAWGRLFGISLSYLTGAAI
WADPGKYALMGAAAQLGGIVRMTLSLTVIMMEATSNVTYGFPIMLVLMTAKIVGDVFIEG
LYDMHIQLQSVPFLHWEAPVTSHSLTAREVMSTPVTCLRRREKVGVIVDVLSDTASNHNG
FPVVEHADDTQPARLQGLILRSQLIVLLKHKVFVERSNLGLVQRRLRLKDFRDAYPRFPP
IQSIHVSQDERECTMDLSEFMNPSPYTVPQEASLPRVFKLFRALGLRHLVVVDNRNQVVG
LVTRKDLARYRLGKRGLEELSLAQT
NT seq 2418 nt   +upstreamnt  +downstreamnt
atggccaacgtctctaagaaggtgtcctggtccggccgggaccgggacgacgaggaggcg
gcgccgctgctgcggaggacggcgcggcccggcggggggacgccgctgctgaacggggct
gggcctggggctgcgcgccagtcaccacgttctgcgcttttccgagtcggacatatgagc
agcgtggagctggatgatgaacttttggacccggatatggaccctccacatcccttcccc
aaggagatcccacacaacgagaagctcctgtccctcaagtatgagagcttggactatgac
aacagtgagaaccagctgttcctggaggaggagcggcggatcaatcacacggccttccgg
acggtggagatcaagcgctgggtcatctgcgccctcattgggatcctcacgggcctcgtg
gcctgcttcattgacatcgtggtggaaaacctggctggcctcaagtacagggtcatcaag
ggcaatatcgacaagttcacagagaagggcggactgtccttctccctgttgctgtgggcc
acgctgaacgccgccttcgtgctcgtgggctctgtgattgtggctttcatagagccggtg
gctgctggcagcggaatcccccagatcaagtgcttcctcaacggggtgaagatcccccac
gtggtgcggctcaagacgttggtgatcaaagtgtccggtgtgatcctgtccgtggtcggg
ggcctggccgtgggaaaggaagggccgatgatccactcaggttcagtgattgccgccggg
atctctcagggaaggtcaacgtcactgaaacgagatttcaagatcttcgagtacttccgc
agagacacagagaagcgggacttcgtctccgcaggggctgcggccggagtgtcagcggcg
tttggagcccccgtgggtggggtcctgttcagcttggaggagggtgcgtccttctggaac
cagttcctgacctggaggatcttctttgcttccatgatctccacgttcaccctgaatttt
gttctgagcatttaccacgggaacatgtgggacctgtccagcccaggcctcatcaacttc
ggaaggtttgactcggagaaaatggcctacacgatccacgagatcccggtcttcatcgcc
atgggcgtggtgggcggtgtgcttggagcagtgttcaatgccttgaactactggctgacc
atgtttcgaatcaggtacatccaccggccctgcctgcaggtgattgaggccgtgctggtg
gccgccgtcacggccacagttgccttcgtgctgatctactcgtcgcgggattgccagccc
ctgcaggggggctccatgtcctacccgctgcagctcttttgtgcagatggcgagtacaac
tccatggctgcggccttcttcaacaccccggagaagagcgtggtgagcctcttccacgac
ccgccaggctcctacaaccccctgaccctcggcctgttcacgctggtctacttcttcctg
gcctgctggacctacgggctcacggtgtctgccggggtcttcatcccgtccctgctcatc
ggggctgcctggggccggctctttgggatctccctgtcctacctcacgggggcggcgatc
tgggcggaccccggcaaatacgccctgatgggagctgctgcccagctgggcgggattgtg
cggatgacactgagcctgaccgtcatcatgatggaggccaccagcaacgtgacctacggc
ttccccatcatgctggtgctcatgaccgccaagatcgtgggcgacgtcttcattgagggc
ctgtacgacatgcacattcagctgcagagtgtgcccttcctgcactgggaggccccggtc
acctcacactcactcactgccagggaggtgatgagcacaccagtgacctgcctgaggcgg
cgtgagaaggtcggcgtcattgtggacgtgctgagcgacacggcgtccaatcacaacggc
ttccccgtggtggagcatgccgatgacacccagcctgcccggctccagggcctgatcctg
cgctcccagctcatcgttctcctaaagcacaaggtgtttgtggagcggtccaacctgggc
ctggtacagcggcgcctgaggctgaaggacttccgagacgcctacccgcgcttcccaccc
atccagtccatccacgtgtcccaggacgagcgggagtgcaccatggacctctccgagttc
atgaacccctccccctacacggtgccccaggaggcgtcgctcccacgggtgttcaagctg
ttccgggccctgggcctgcggcacctggtggtggtggacaaccgcaatcaggttgtcggg
ttggtgaccaggaaggacctcgccaggtaccgcctgggaaagagaggcttggaggagctc
tcgctggcccagacgtga

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