• Gene id: 1186

Gene Summary

• Gene Symbol: CLCN7   Gene   UCSC   Ensembl
• Aliases: CLC-7, CLC7, HOD, OPTA2, OPTB4, PPP1R63
• Gene name: chloride voltage-gated channel 7
• Alternate names: H(+)/Cl(-) exchange transporter 7, chloride channel 7 alpha subunit, chloride channel protein 7, chloride channel, voltage-sensitive 7, protein phosphatase 1, regulatory subunit 63,
• Gene location: 16p13.3 (74590474: 75065671)     Exons: 13     NC_000018.10
• Gene summary(Entrez): The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of ost
• OMIM: 602727

Protein Summary

• Protein general information: P51798  
  • Name: H(+)/Cl( ) exchange transporter 7 (Chloride channel 7 alpha subunit) (Chloride channel protein 7) (ClC 7)
  • Length: 805  
  • Mass: 88679
  • Tissue specificity: Brain and kidney. {ECO
• Sequence:

  MANVSKKVSWSGRDRDDEEAAPLLRRTARPGGGTPLLNGAGPGAARQSPRSALFRVGHMSSVELDDELLDPDMDP
  PHPFPKEIPHNEKLLSLKYESLDYDNSENQLFLEEERRINHTAFRTVEIKRWVICALIGILTGLVACFIDIVVEN
  LAGLKYRVIKGNIDKFTEKGGLSFSLLLWATLNAAFVLVGSVIVAFIEPVAAGSGIPQIKCFLNGVKIPHVVRLK
  TLVIKVSGVILSVVGGLAVGKEGPMIHSGSVIAAGISQGRSTSLKRDFKIFEYFRRDTEKRDFVSAGAAAGVSAA
  FGAPVGGVLFSLEEGASFWNQFLTWRIFFASMISTFTLNFVLSIYHGNMWDLSSPGLINFGRFDSEKMAYTIHEI
  PVFIAMGVVGGVLGAVFNALNYWLTMFRIRYIHRPCLQVIEAVLVAAVTATVAFVLIYSSRDCQPLQGGSMSYPL
  QLFCADGEYNSMAAAFFNTPEKSVVSLFHDPPGSYNPLTLGLFTLVYFFLACWTYGLTVSAGVFIPSLLIGAAWG
  RLFGISLSYLTGAAIWADPGKYALMGAAAQLGGIVRMTLSLTVIMMEATSNVTYGFPIMLVLMTAKIVGDVFIEG
  LYDMHIQLQSVPFLHWEAPVTSHSLTAREVMSTPVTCLRRREKVGVIVDVLSDTASNHNGFPVVEHADDTQPARL
  QGLILRSQLIVLLKHKVFVERSNLGLVQRRLRLKDFRDAYPRFPPIQSIHVSQDERECTMDLSEFMNPSPYTVPQ
  EASLPRVFKLFRALGLRHLVVVDNRNQVVGLVTRKDLARYRLGKRGLEELSLAQT

• Structural information:
  • Protein Domains: (631..69-)
    (/note="CBS-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00703-)
    (741..79-)
    (/note="CBS-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00703"-)
  • Interpro: IPR000644  IPR014743  IPR001807  IPR002249  
  • Prosite: PS51371
  • STRING: ENSP00000372193
• Other Databases: GeneCards:  CLCN7  Malacards:  CLCN7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0022857	transmembrane transporter activity	IBA	molecular function
GO:0015108	chloride transmembrane transporter activity	IBA	molecular function
GO:0006821	chloride transport	IEA	biological process
GO:0005247	voltage-gated chloride channel activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0015297	antiporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005254	chloride channel activity	TAS	molecular function
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0009268	response to pH	IEA	biological process
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:0016020	membrane	HDA	cellular component
GO:0005765	lysosomal membrane	HDA	cellular component

Diseases

Associated diseases	References
Osteopetrosis	KEGG:H00436
Osteopetrosis	KEGG:H00436
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq