• Gene id: 1181

Gene Summary

• Gene Symbol: CLCN2   Gene   UCSC   Ensembl
• Aliases: CIC-2, CLC2, ECA2, ECA3, EGI11, EGI3, EGMA, EJM6, EJM8, LKPAT, clC-2
• Gene name: chloride voltage-gated channel 2
• Alternate names: chloride channel protein 2, chloride channel 2, chloride channel, voltage-sensitive 2,
• Gene location: 3q27.1 (184361650: 184346184)     Exons: 25     NC_000003.12
• Gene summary(Entrez): This gene encodes a voltage-gated chloride channel. The encoded protein is a transmembrane protein that maintains chloride ion homeostasis in various cells. Defects in this gene may be a cause of certain epilepsies. Four transcript variants encoding diffe
• OMIM: 600570

SNPs

rs777105668

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.184354548C>T
NC_000003.11   g.184072336C>T
NG_016422.1   g.12056G>A
NM_004366.6   c.1507G>A
NM_004366.5   c.1507G>A
NM_001171087.3   c.1456G>A
NM_001171087.2   c.1456G>A
NM_001171089.3   c.1507G>A
NM_001171089.2   c.1507G>A
NM_001171088.3   c.1375G>A
NM  

Protein Summary

• Protein general information: P51788  
  • Name: Chloride channel protein 2 (ClC 2)
  • Length: 898  
  • Mass: 98,535
• Sequence:

  MAAAAAEEGMEPRALQYEQTLMYGRYTQDLGAFAKEEAARIRLGGPEPWKGPPSSRAAPELLEYGRSRCARCRVC
  SVRCHKFLVSRVGEDWIFLVLLGLLMALVSWVMDYAIAACLQAQQWMSRGLNTSILLQYLAWVTYPVVLITFSAG
  FTQILAPQAVGSGIPEMKTILRGVVLKEYLTLKTFIAKVIGLTCALGSGMPLGKEGPFVHIASMCAALLSKFLSL
  FGGIYENESRNTEMLAAACAVGVGCCFAAPIGGVLFSIEVTSTFFAVRNYWRGFFAATFSAFIFRVLAVWNRDEE
  TITALFKTRFRLDFPFDLQELPAFAVIGIASGFGGALFVYLNRKIVQVMRKQKTINRFLMRKRLLFPALVTLLIS
  TLTFPPGFGQFMAGQLSQKETLVTLFDNRTWVRQGLVEELEPPSTSQAWNPPRANVFLTLVIFILMKFWMSALAT
  TIPVPCGAFMPVFVIGAAFGRLVGESMAAWFPDGIHTDSSTYRIVPGGYAVVGAAALAGAVTHTVSTAVIVFELT
  GQIAHILPVMIAVILANAVAQSLQPSLYDSIIRIKKLPYLPELGWGRHQQYRVRVEDIMVRDVPHVALSCTFRDL
  RLALHRTKGRMLALVESPESMILLGSIERSQVVALLGAQLSPARRRQHMQERRATQTSPLSDQEGPPTPEASVCF
  QVNTEDSAFPAARGETHKPLKPALKRGPSVTRNLGESPTGSAESAGIALRSLFCGSPPPEAASEKLESCEKRKLK
  RVRISLASDADLEGEMSPEEILEWEEQQLDEPVNFSDCKIDPAPFQLVERTSLHKTHTIFSLLGVDHAYVTSIGR
  LIGIVTLKELRKAIEGSVTAQGVKVRPPLASFRDSATSSSDTETTEVHALWGPHSRHGLPREGSPSDSDDKCQ

• Structural information:
  • Protein Domains: CBS (584-642)
    CBS (790-850)
  • Interpro: IPR000644  IPR002244  IPR014743  IPR001807  
  • Prosite: PS51371
  • STRING: ENSP00000265593
• Other Databases: GeneCards:  CLCN2  Malacards:  CLCN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005247	voltage-gated chloride channel activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0006810	transport	TAS	biological process
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0034707	chloride channel complex	IEA	cellular component
GO:0060041	retina development in camera-type eye	IEA	biological process
GO:0060689	cell differentiation involved in salivary gland development	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1903959	regulation of anion transmembrane transport	IEA	biological process
GO:0005216	ion channel activity	IEA	molecular function
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0005247	voltage-gated chloride channel activity	IEA	molecular function
GO:0005247	voltage-gated chloride channel activity	IEA	molecular function
GO:0005247	voltage-gated chloride channel activity	TAS	molecular function
GO:0005247	voltage-gated chloride channel activity	TAS	molecular function
GO:0005254	chloride channel activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006810	transport	IEA	biological process
GO:0006810	transport	TAS	biological process
GO:0006811	ion transport	IEA	biological process
GO:0006821	chloride transport	IEA	biological process
GO:0006821	chloride transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0034707	chloride channel complex	IEA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0060041	retina development in camera-type eye	IEA	biological process
GO:0060689	cell differentiation involved in salivary gland development	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1903959	regulation of anion transmembrane transport	IEA	biological process
GO:0005247	voltage-gated chloride channel activity	TAS	molecular function
GO:0005247	voltage-gated chloride channel activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0006810	transport	TAS	biological process
GO:0034220	ion transmembrane transport	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04978	Mineral absorption

Diseases

Associated diseases	References
Cystic fibrosis	GAD: 15507145
Cystic fibrosis	GAD: 15507145
Idiopathic generalized epilepsies	KEGG: H00808
Leukoencephalopathy	OMIM: 600570
Epilepsy	OMIM: 600570
Epilepsy	OMIM: 600570
Epilepsy	OMIM: 600570
Epilepsy	GAD: 16932951
Epilepsy	GAD: 19191339
Epilepsy	GAD: 16932951
Subclinical leukodystrophy	INFBASE: 25128180
Subclinical leukodystrophy	MIK: 25128180
Subclinical leukodystrophy, infertility	MIK: 25128180

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25128180	Subclinical leukodystrophy, infertility	CLCN2 mutation			Male infertility