Details for: CLCN7

Gene ID: 1186

Symbol: CLCN7

Ensembl ID: ENSG00000103249

Description: chloride voltage-gated channel 7

Associated with

Other Information

Genular Protein ID: 1972890951

Symbol: CLCN7_HUMAN

Name: H(+)/Cl(-) exchange transporter 7

UniProtKB Accession Codes:

P51798 A6NEJ7 A8K5T9 A8K7X1 B3KPN3 E9PDB9 Q9NYX5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CTD 1 ChEBI 7 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 10 EMDB 5 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 10 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GuidetoPHARMACOLOGY 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 7 PDBsum 5 PIR 1 PRINTS 2 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 2 Rhea 1 SAM 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8543009

Title: ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family.

PubMed ID: 8543009

DOI: 10.1016/0014-5793(95)01298-2

PubMed ID: 9565675

Title: The exon-intron architecture of human chloride channel genes is not conserved.

PubMed ID: 9565675

DOI: 10.1016/s0167-4781(98)00014-1

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 17897319

Title: Integral and associated lysosomal membrane proteins.

PubMed ID: 17897319

DOI: 10.1111/j.1600-0854.2007.00643.x

PubMed ID: 18449189

Title: The Cl-/H+ antiporter ClC-7 is the primary chloride permeation pathway in lysosomes.

PubMed ID: 18449189

DOI: 10.1038/nature06907

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 21527911

Title: ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity.

PubMed ID: 21527911

DOI: 10.1038/emboj.2011.137

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 11207362

Title: Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man.

PubMed ID: 11207362

DOI: 10.1016/s0092-8674(01)00206-9

PubMed ID: 11741829

Title: Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.

PubMed ID: 11741829

DOI: 10.1093/hmg/10.25.2861

PubMed ID: 14584882

Title: Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.

PubMed ID: 14584882

DOI: 10.1359/jbmr.2003.18.10.1740

PubMed ID: 17033731

Title: DNA-based diagnosis of malignant osteopetrosis by whole-genome scan using a single-nucleotide polymorphism microarray: standardization of molecular investigations of genetic diseases due to consanguinity.

PubMed ID: 17033731

DOI: 10.1007/s10038-006-0075-4

PubMed ID: 19288050

Title: Identification of the CLCN7 gene mutations in two Chinese families with autosomal dominant osteopetrosis (type II).

PubMed ID: 19288050

DOI: 10.1007/s00774-009-0051-0

PubMed ID: 19953639

Title: Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.

PubMed ID: 19953639

DOI: 10.1002/humu.21167

PubMed ID: 26395888

Title: Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients.

PubMed ID: 26395888

DOI: 10.1007/s00198-015-3320-x

PubMed ID: 26477479

Title: A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient.

PubMed ID: 26477479

DOI: 10.1016/j.gene.2015.10.021

PubMed ID: 31155284

Title: Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.

PubMed ID: 31155284

DOI: 10.1016/j.ajhg.2019.04.008

Sequence Information:

  • Length: 805
  • Mass: 88679
  • Checksum: E56BC0B4ADE1C695
  • Sequence:
    • MANVSKKVSW SGRDRDDEEA APLLRRTARP GGGTPLLNGA GPGAARQSPR SALFRVGHMS 
SVELDDELLD PDMDPPHPFP KEIPHNEKLL SLKYESLDYD NSENQLFLEE ERRINHTAFR 
TVEIKRWVIC ALIGILTGLV ACFIDIVVEN LAGLKYRVIK GNIDKFTEKG GLSFSLLLWA 
TLNAAFVLVG SVIVAFIEPV AAGSGIPQIK CFLNGVKIPH VVRLKTLVIK VSGVILSVVG 
GLAVGKEGPM IHSGSVIAAG ISQGRSTSLK RDFKIFEYFR RDTEKRDFVS AGAAAGVSAA 
FGAPVGGVLF SLEEGASFWN QFLTWRIFFA SMISTFTLNF VLSIYHGNMW DLSSPGLINF 
GRFDSEKMAY TIHEIPVFIA MGVVGGVLGA VFNALNYWLT MFRIRYIHRP CLQVIEAVLV 
AAVTATVAFV LIYSSRDCQP LQGGSMSYPL QLFCADGEYN SMAAAFFNTP EKSVVSLFHD 
PPGSYNPLTL GLFTLVYFFL ACWTYGLTVS AGVFIPSLLI GAAWGRLFGI SLSYLTGAAI 
WADPGKYALM GAAAQLGGIV RMTLSLTVIM MEATSNVTYG FPIMLVLMTA KIVGDVFIEG 
LYDMHIQLQS VPFLHWEAPV TSHSLTAREV MSTPVTCLRR REKVGVIVDV LSDTASNHNG 
FPVVEHADDT QPARLQGLIL RSQLIVLLKH KVFVERSNLG LVQRRLRLKD FRDAYPRFPP 
IQSIHVSQDE RECTMDLSEF MNPSPYTVPQ EASLPRVFKL FRALGLRHLV VVDNRNQVVG 
LVTRKDLARY RLGKRGLEEL SLAQT

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.