CLCN2 | ENSG00000114859 | NCBI 1181

Details for: CLCN2

Gene ID: 1181

Symbol: CLCN2

Ensembl ID: ENSG00000114859

Description: chloride voltage-gated channel 2

Associated with

Ion channel transport
(R-HSA-983712)
Stimuli-sensing channels
(R-HSA-2672351)
Transport of small molecules
(R-HSA-382551)
Acinar cell differentiation
(GO:0090425)
Cell differentiation involved in salivary gland development
(GO:0060689)
Chloride channel complex
(GO:0034707)
Chloride transmembrane transport
(GO:1902476)
Chloride transport
(GO:0006821)
Dendrite
(GO:0030425)
Lung development
(GO:0030324)
Perikaryon
(GO:0043204)
Plasma membrane
(GO:0005886)
Positive regulation of oligodendrocyte differentiation
(GO:0048714)
Regulation of aldosterone biosynthetic process
(GO:0032347)
Retina development in camera-type eye
(GO:0060041)
Voltage-gated chloride channel activity
(GO:0005247)

Other Information

Proteins

Chloride channel protein 2

Genular Protein ID: 2200447874

Symbol: CLCN2_HUMAN

Name: Chloride channel protein 2

UniProtKB Accession Codes:

P51788 B4DQT9 B4DZ58 E9PBD9 E9PCD2 O14864 Q6IPA9 Q8WU13

Database IDs:

Citations:

PubMed ID: 7795595

Title: Cloning of a putative human voltage-gated chloride channel (ClC-2) cDNA widely expressed in human tissues.

PubMed ID: 7795595

DOI: 10.1093/hmg/4.3.407

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

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: 10198195

Title: Expression of CLCN voltage-gated chloride channel genes in human blood vessels.

PubMed ID: 10198195

DOI: 10.1006/jmcc.1998.0901

PubMed ID: 19153159

Title: Voltage-dependent and -independent titration of specific residues accounts for complex gating of a ClC chloride channel by extracellular protons.

PubMed ID: 19153159

DOI: 10.1113/jphysiol.2008.167353

PubMed ID: 12612585

Title: Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.

PubMed ID: 12612585

DOI: 10.1038/ng1121

PubMed ID: 19710717

Title:

PubMed ID: 19710717

DOI: 10.1038/ng0909-1043

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 23186163

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

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 29403011

Title: CLCN2 chloride channel mutations in familial hyperaldosteronism type II.

PubMed ID: 29403011

DOI: 10.1038/s41588-018-0048-5

PubMed ID: 29403012

Title: A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism.

PubMed ID: 29403012

DOI: 10.1038/s41588-018-0053-8

PubMed ID: 17762171

Title: Alterations in the cytoplasmic domain of CLCN2 result in altered gating kinetics.

PubMed ID: 17762171

DOI: 10.1159/000107528

PubMed ID: 19200853

Title: Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy.

PubMed ID: 19200853

DOI: 10.1016/j.brainresbull.2009.01.008

PubMed ID: 19710712

Title: CLCN2 variants in idiopathic generalized epilepsy.

PubMed ID: 19710712

DOI: 10.1038/ng0909-954

PubMed ID: 19191339

Title: Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.

PubMed ID: 19191339

DOI: 10.1002/humu.20876

PubMed ID: 23707145

Title: Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study.

PubMed ID: 23707145

DOI: 10.1016/s1474-4422(13)70053-x

PubMed ID: 36964785

Title: Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function.

PubMed ID: 36964785

DOI: 10.1007/s00439-023-02531-7

Sequence Information:

Length: 898
Mass: 98535
Checksum: 5F20FA8713C0C74E
Sequence:

MAAAAAEEGM EPRALQYEQT LMYGRYTQDL GAFAKEEAAR IRLGGPEPWK GPPSSRAAPE 
LLEYGRSRCA RCRVCSVRCH KFLVSRVGED WIFLVLLGLL MALVSWVMDY AIAACLQAQQ 
WMSRGLNTSI LLQYLAWVTY PVVLITFSAG FTQILAPQAV GSGIPEMKTI LRGVVLKEYL 
TLKTFIAKVI GLTCALGSGM PLGKEGPFVH IASMCAALLS KFLSLFGGIY ENESRNTEML 
AAACAVGVGC CFAAPIGGVL FSIEVTSTFF AVRNYWRGFF AATFSAFIFR VLAVWNRDEE 
TITALFKTRF RLDFPFDLQE LPAFAVIGIA SGFGGALFVY LNRKIVQVMR KQKTINRFLM 
RKRLLFPALV TLLISTLTFP PGFGQFMAGQ LSQKETLVTL FDNRTWVRQG LVEELEPPST 
SQAWNPPRAN VFLTLVIFIL MKFWMSALAT TIPVPCGAFM PVFVIGAAFG RLVGESMAAW 
FPDGIHTDSS TYRIVPGGYA VVGAAALAGA VTHTVSTAVI VFELTGQIAH ILPVMIAVIL 
ANAVAQSLQP SLYDSIIRIK KLPYLPELGW GRHQQYRVRV EDIMVRDVPH VALSCTFRDL 
RLALHRTKGR MLALVESPES MILLGSIERS QVVALLGAQL SPARRRQHMQ ERRATQTSPL 
SDQEGPPTPE ASVCFQVNTE DSAFPAARGE THKPLKPALK RGPSVTRNLG ESPTGSAESA 
GIALRSLFCG SPPPEAASEK LESCEKRKLK RVRISLASDA DLEGEMSPEE ILEWEEQQLD 
EPVNFSDCKI DPAPFQLVER TSLHKTHTIF SLLGVDHAYV TSIGRLIGIV TLKELRKAIE 
GSVTAQGVKV RPPLASFRDS ATSSSDTETT EVHALWGPHS RHGLPREGSP SDSDDKCQ

The gene details are incomplete or unavailable at the moment.

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.

Details for: CLCN2

Associated with

Other Information

Cloning of a putative human voltage-gated chloride channel (ClC-2) cDNA widely expressed in human tissues. PubMed ID: 7795595

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The DNA sequence, annotation and analysis of human chromosome 3. PubMed ID: 16641997

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Expression of CLCN voltage-gated chloride channel genes in human blood vessels. PubMed ID: 10198195

Voltage-dependent and -independent titration of specific residues accounts for complex gating of a ClC chloride channel by extracellular protons. PubMed ID: 19153159

Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. PubMed ID: 12612585

PubMed ID: 19710717

N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB. PubMed ID: 22814378

Toward a comprehensive characterization of a human cancer cell phosphoproteome. PubMed ID: 23186163

CLCN2 chloride channel mutations in familial hyperaldosteronism type II. PubMed ID: 29403011

A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism. PubMed ID: 29403012

Alterations in the cytoplasmic domain of CLCN2 result in altered gating kinetics. PubMed ID: 17762171

Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy. PubMed ID: 19200853

CLCN2 variants in idiopathic generalized epilepsy. PubMed ID: 19710712

Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy. PubMed ID: 19191339

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study. PubMed ID: 23707145

Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function. PubMed ID: 36964785