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HUMAN:CLCN2

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) CLCN2
Protein Name(s) Chloride channel protein 2

ClC-2

External Links
UniProt P51788
EMBL S77770
AF026004
AK298952
AK302759
AC078797
BC021578
BC072004
CCDS CCDS3263.1
CCDS54690.1
CCDS54691.1
CCDS54692.1
RefSeq NP_001164558.1
NP_001164559.1
NP_001164560.1
NP_004357.3
UniGene Hs.436847
ProteinModelPortal P51788
SMR P51788
BioGrid 107595
IntAct P51788
STRING 9606.ENSP00000265593
ChEMBL CHEMBL1628478
DrugBank DB01046
GuidetoPHARMACOLOGY 699
PhosphoSite P51788
DMDM 288558807
MaxQB P51788
PaxDb P51788
PRIDE P51788
Ensembl ENST00000265593
ENST00000344937
ENST00000434054
ENST00000457512
GeneID 1181
KEGG hsa:1181
UCSC uc003foi.4
uc010hya.3
CTD 1181
GeneCards GC03M184063
HGNC HGNC:2020
HPA CAB009397
HPA014545
HPA024108
MIM 600570
607628
615651
neXtProt NX_P51788
Orphanet 307
363540
PharmGKB PA26547
eggNOG COG0038
GeneTree ENSGT00760000119109
HOGENOM HOG000231297
HOVERGEN HBG005332
InParanoid P51788
KO K05011
OMA ESCEKRK
OrthoDB EOG77WWCD
PhylomeDB P51788
TreeFam TF300522
Reactome REACT_160189
ChiTaRS CLCN2
GeneWiki CLCN2
GenomeRNAi 1181
NextBio 4880
PRO PR:P51788
Proteomes UP000005640
Bgee P51788
CleanEx HS_CLCN2
Genevestigator P51788
GO GO:0034707
GO:0005886
GO:0030554
GO:0005247
GO:0060689
GO:0034220
GO:0044070
GO:0060041
GO:0055085
GO:0006810
Gene3D 1.10.3080.10
InterPro IPR000644
IPR002244
IPR014743
IPR001807
Pfam PF00571
PF00654
PRINTS PR00762
PR01113
SMART SM00116
SUPFAM SSF81340
PROSITE PS51371

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status
GO:0005216

ion channel activity

PMID:25626868[1]

ECO:0000314

F

Figure 1; in vitro protein localization

complete
CACAO 10638

enables

GO:0005247

voltage-gated chloride channel activity

PMID:29403011[2]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:0005886

plasma membrane

PMID:29403011[2]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0032347

regulation of aldosterone biosynthetic process

PMID:29403011[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005887

integral component of plasma membrane

PMID:21873635[3]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0051116
PANTHER:PTN000913959
RGD:68435
UniProtKB:P35523

C

Seeded From UniProt

complete

involved_in

GO:1902476

chloride transmembrane transport

GO_REF:0000108

ECO:0000366

evidence based on logical inference from automatic annotation used in automatic assertion

GO:0005247

P

Seeded From UniProt

complete

involved_in

GO:1902476

chloride transmembrane transport

GO_REF:0000108

ECO:0000366

evidence based on logical inference from automatic annotation used in automatic assertion

GO:0005247

P

Seeded From UniProt

complete

involved_in

GO:1902476

chloride transmembrane transport

GO_REF:0000108

ECO:0000364

evidence based on logical inference from manual annotation used in automatic assertion

GO:0005247

P

Seeded From UniProt

complete

involved_in

GO:1902476

chloride transmembrane transport

GO_REF:0000108

ECO:0000364

evidence based on logical inference from manual annotation used in automatic assertion

GO:0005247

P

Seeded From UniProt

complete

involved_in

GO:1902476

chloride transmembrane transport

GO_REF:0000108

ECO:0000366

evidence based on logical inference from automatic annotation used in automatic assertion

GO:0005254

P

Seeded From UniProt

complete

involved_in

GO:0060689

cell differentiation involved in salivary gland development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q9R0A1
ensembl:ENSMUSP00000007207

P

Seeded From UniProt

complete

involved_in

GO:0060041

retina development in camera-type eye

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q9R0A1
ensembl:ENSMUSP00000007207

P

Seeded From UniProt

complete

enables

GO:0005247

voltage-gated chloride channel activity

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q9R0A1
ensembl:ENSMUSP00000007207

F

Seeded From UniProt

complete

enables

GO:0005247

voltage-gated chloride channel activity

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR001807
InterPro:IPR002244

F

Seeded From UniProt

complete

involved_in

GO:0006821

chloride transport

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR001807
InterPro:IPR002244

P

Seeded From UniProt

complete

part_of

GO:0016020

membrane

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR001807
InterPro:IPR002244

C

Seeded From UniProt

complete

involved_in

GO:0055085

transmembrane transport

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR001807

P

Seeded From UniProt

complete

enables

GO:0005247

voltage-gated chloride channel activity

PMID:7795595[4]

ECO:0000304

author statement supported by traceable reference used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0034220

ion transmembrane transport

Reactome:R-HSA-983712

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005886

plasma membrane

Reactome:R-HSA-2744228

ECO:0000304

author statement supported by traceable reference used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0006821

chloride transport

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0869

P

Seeded From UniProt

complete

involved_in

GO:0006811

ion transport

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0406

P

Seeded From UniProt

complete

enables

GO:0005254

chloride channel activity

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0869

F

Seeded From UniProt

complete

part_of

GO:0005886

plasma membrane

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-1003
UniProtKB-SubCell:SL-0039

C

Seeded From UniProt

complete

part_of

GO:0016021

integral component of membrane

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0812

C

Seeded From UniProt

complete

part_of

GO:0016020

membrane

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0472

C

Seeded From UniProt

complete

part_of

GO:0034707

chloride channel complex

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0869

C

Seeded From UniProt

complete

enables

GO:0005244

voltage-gated ion channel activity

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0851

F

Seeded From UniProt

complete

involved_in

GO:0034765

regulation of ion transmembrane transport

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0851

P

Seeded From UniProt

complete

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Notes

References

See Help:References for how to manage references in GONUTS.

  1. ↑ Henry, KR et al. (2015) Direct interactions between ENaC gamma subunit and ClCN2 in cystic fibrosis epithelial cells. Physiol Rep 3 PubMed GONUTS page
  2. ↑ 2.0 2.1 2.2 Scholl, UI et al. (2018) CLCN2 chloride channel mutations in familial hyperaldosteronism type II. Nat. Genet. 50 349-354 PubMed GONUTS page
  3. ↑ Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
  4. ↑ Cid, LP et al. (1995) Cloning of a putative human voltage-gated chloride channel (CIC-2) cDNA widely expressed in human tissues. Hum. Mol. Genet. 4 407-13 PubMed GONUTS page
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