Basic Information | Overview of PTM Sites | Experimental PTM Sites | Protein-Protein Interactions | Drug and Disease Associations | Related Literatures
Basic Information
Protein Name :  Chloride channel protein 2  

UniProtKB / Swiss-Prot ID :  CLCN2_HUMAN

Gene Name (Synonyms) : 
CLCN2  

Species :  Homo sapiens (Human). 

Subcellular Localization :  Membrane; Multi-pass membrane protein. 

Protein Function :  Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. 

Transmembrane Topology (topPTM) : CLCN2_HUMAN 

Protein Sequence MAAAAAEEGMEPRALQYEQTLMYGRYTQDLGAFAKEEAARIRLGGPEPWKGPPSSRAAPELLEYGRSRCA...
Predicted Secondary Structure CCCCCCHHCCCCHHHCCHHHHHHHHHHHHHHHHHHHHCCCCCCCCCCCCCCCCCCCCCHHHHHHHCCCCH...
Protein Variant
LocationDescription
48P -> R (reduces channel activity). VAR_057886
68R -> H (reduces channel activity). VAR_057887
199G -> A (no effect). VAR_057888
235R -> Q (confers susceptibility tojuvenile myoclonic epilepsy type 8; the
577R -> Q (confers susceptibility toidiopathic generalized epilepsy type 11;
644R -> C (no effect). VAR_057891
646R -> Q (reduces channel activity). VAR_057892
668T -> S (in dbSNP:rs9820367). VAR_054550
715G -> E (may confer susceptibility tojuvenile absence epilepsy type 2;
718E -> D (in dbSNP:rs2228292). VAR_054551
719S -> L (in a patient with childhoodabsence epilepsy).
725R -> W (slightly faster channelactivation).
747R -> H (slightly faster channelactivation).
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Overview of Protein Modification Sites with Functional and Structural Information
Accessible Surface Area (ASA)
Pred. Secondary
Real Secondary
Disorder Prediction
Protein Domain
&
Experimental PTM Sites
Predicted PTM Sites
Protein Variant
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Experimental Post-Translational Modification Sites Download
Locations
Modification
Substrate Sites
&
Secondary Structure
Accessible Surface Area (%)
Resource
Reference
Structural Characterization
Orthologous
Protein Cluster
35Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)GAFAKEEAA
HHHHHHHCC
50.03Phosphositeplus
Link-
76PhosphoserineCRVCSVRCH
HHHHHHHHH
15.11Phosphositeplus
Link-
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Protein-Protein Interactions
      Interacting Protein      
Interaction type
Source ID
      Resource      
      Pubmed ID      
Domain-Domain Interactions
There are no Protein-Protein Interactions.
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Disease Reference
Kegg disease
H00808 Idiopathic generalized epilepsies (IGEs), including: Childhood absence epilepsy (CAE); Juvenile abse
OMIM disease
607628Epilepsy, idiopathic generalized 11 (EIG11)
607628Juvenile absence epilepsy 2 (JAE2)
607628Juvenile myoclonic epilepsy 8 (EJM8)
615651Leukoencephalopathy with ataxia (LKPAT)
Drug Reference
DrugBank
DB01046Lubiprostone
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Related Literatures of Post-Translational Modification
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Basic Information | Overview of PTM Sites | Experimental PTM Sites | Protein-Protein Interactions | Drug and Disease Associations | Related Literatures