Property Summary

NCBI Gene PubMed Count 47
Grant Count 34
Funding $3,667,903.31
PubMed Score 94.40
PubTator Score 84.92

Knowledge Summary

Patent (4,605)

Expression

  Differential Expression (2)

Disease log2 FC p
psoriasis 1.500 0.000
diabetes mellitus -1.300 0.003

Gene RIF (32)

PMID Text
26477479 study demonstrates a wide heterogeneity in the progression of the phenotypes and expanded the mutational spectrum for the CLCN7 gene
25943117 Results show that ClC-7 is strongly expressed in OUMS-27,a chondrocyte cell line and is responsible for Cl- current. Its downregulation during the hypoosmotic stress accompanying osteoarthritis progression is part of the complex etiology of the disease.
25410126 the unusual clinical presentation observed in our patient with a mild clinical onset evolving towards a more serious clinical picture, is associated to two novel mutations on CLCN7 gene.
24108692 analysis demonstrates that CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization, and that there is a need to modify the current classification of osteopetrosis
24103576 ClC-7 does not appear to be crucially involved in gastric acid secretion, which explains the absence of an osteopetrorickets phenotype in CLCN7-related osteopetrosis.
23953223 recurrent p.Gly215Arg mutation and novel missense mutations p.Ala299Val and p.Trp319Arg in the CLCN7 gene were responsible for these three Chinese ADO-II families.
21947783 Eight mutations, including two reported mutations (R767W and E798FS) and six novel mutations (E313K, A316G, R743W, G741R, W127G and S290F), were detected in the CLCN7 gene from 12 living autosomal dominant osteopetrosis type II patients.
21527911 The authors show that both the aminoterminus and transmembrane span of the Ostm1 beta-subunit are required for ClC-7 Cl(-)/H(+)-exchange, whereas the Ostm1 transmembrane domain suffices for its ClC-7-dependent trafficking to lysosomes.
20830208 Rat G213R ClC-7 is the analogue of human G215R ClC-7 responsible for autosomal dominant osteopetrosis type II.
20499337 Elevated serum LDH isoenzymes and AST indicate a disturbance (of uncertain clinical significance) within multiple extraosseous tissues when there is CLCN7 deficiency.
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AA Sequence

MANVSKKVSWSGRDRDDEEAAPLLRRTARPGGGTPLLNGAGPGAARQSPRSALFRVGHMSSVELDDELLD      1 - 70
PDMDPPHPFPKEIPHNEKLLSLKYESLDYDNSENQLFLEEERRINHTAFRTVEIKRWVICALIGILTGLV     71 - 140
ACFIDIVVENLAGLKYRVIKGNIDKFTEKGGLSFSLLLWATLNAAFVLVGSVIVAFIEPVAAGSGIPQIK    141 - 210
CFLNGVKIPHVVRLKTLVIKVSGVILSVVGGLAVGKEGPMIHSGSVIAAGISQGRSTSLKRDFKIFEYFR    211 - 280
RDTEKRDFVSAGAAAGVSAAFGAPVGGVLFSLEEGASFWNQFLTWRIFFASMISTFTLNFVLSIYHGNMW    281 - 350
DLSSPGLINFGRFDSEKMAYTIHEIPVFIAMGVVGGVLGAVFNALNYWLTMFRIRYIHRPCLQVIEAVLV    351 - 420
AAVTATVAFVLIYSSRDCQPLQGGSMSYPLQLFCADGEYNSMAAAFFNTPEKSVVSLFHDPPGSYNPLTL    421 - 490
GLFTLVYFFLACWTYGLTVSAGVFIPSLLIGAAWGRLFGISLSYLTGAAIWADPGKYALMGAAAQLGGIV    491 - 560
RMTLSLTVIMMEATSNVTYGFPIMLVLMTAKIVGDVFIEGLYDMHIQLQSVPFLHWEAPVTSHSLTAREV    561 - 630
MSTPVTCLRRREKVGVIVDVLSDTASNHNGFPVVEHADDTQPARLQGLILRSQLIVLLKHKVFVERSNLG    631 - 700
LVQRRLRLKDFRDAYPRFPPIQSIHVSQDERECTMDLSEFMNPSPYTVPQEASLPRVFKLFRALGLRHLV    701 - 770
VVDNRNQVVGLVTRKDLARYRLGKRGLEELSLAQT                                       771 - 805
//

Text Mined References (54)

PMID Year Title
26477479 2016 A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient.
26395888 2016 Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients.
25943117 2015 The ClC-7 Chloride Channel Is Downregulated by Hypoosmotic Stress in Human Chondrocytes.
25410126 2014 Identification of two novel mutations on CLCN7 gene in a patient with malignant ostopetrosis.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24108692 2014 CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals.
24103576 2014 ClC-7 expression levels critically regulate bone turnover, but not gastric acid secretion.
23953223 2014 Identification of two novel CLCN7 gene mutations in three Chinese families with autosomal dominant osteopetrosis type II.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
21947783 2012 The virulence gene and clinical phenotypes of osteopetrosis in the Chinese population: six novel mutations of the CLCN7 gene in twelve osteopetrosis families.
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