UniProtKB - P51788 (CLCN2_HUMAN)
Chloride channel protein 2
CLCN2
Functioni
Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. Involved in the regulation of aldosterone production. The opening of CLCN2 channels at hyperpolarized membrane potentials in the glomerulosa causes cell membrane depolarization, activation of voltage-gated Ca2+ channels and increased expression of aldosterone synthase, the rate-limiting enzyme for aldosterone biosynthesis (PubMed:29403011, PubMed:29403012).
4 PublicationsMiscellaneous
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 162 | ChlorideBy similarity | 1 | |
Binding sitei | 459 | Chloride; via amide nitrogenBy similarity | 1 | |
Binding sitei | 553 | ChlorideBy similarity | 1 |
GO - Molecular functioni
- voltage-gated chloride channel activity Source: UniProtKB
GO - Biological processi
- cell differentiation involved in salivary gland development Source: Ensembl
- chloride transport Source: GO_Central
- lung development Source: Ensembl
- regulation of aldosterone biosynthetic process Source: UniProtKB
- regulation of ion transmembrane transport Source: UniProtKB-KW
- retina development in camera-type eye Source: Ensembl
Keywordsi
Molecular function | Chloride channel, Ion channel, Voltage-gated channel |
Biological process | Ion transport, Transport |
Ligand | Chloride |
Enzyme and pathway databases
PathwayCommonsi | P51788 |
Reactomei | R-HSA-2672351, Stimuli-sensing channels |
SignaLinki | P51788 |
Protein family/group databases
TCDBi | 2.A.49.2.12, the chloride carrier/channel (clc) family |
Names & Taxonomyi
Protein namesi | Recommended name: Chloride channel protein 2Short name: ClC-2 |
Gene namesi | Name:CLCN2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:2020, CLCN2 |
MIMi | 600570, gene |
neXtProti | NX_P51788 |
VEuPathDBi | HostDB:ENSG00000114859 |
Subcellular locationi
Plasma membrane
- Cell membrane 1 Publication; Multi-pass membrane protein
Plasma Membrane
- integral component of plasma membrane Source: GO_Central
- plasma membrane Source: UniProtKB
Other locations
- chloride channel complex Source: UniProtKB-KW
- dendrite Source: Ensembl
- perikaryon Source: Ensembl
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 2 – 87 | CytoplasmicBy similarityAdd BLAST | 86 | |
Transmembranei | 88 – 121 | HelicalBy similarityAdd BLAST | 34 | |
Transmembranei | 130 – 155 | HelicalBy similarityAdd BLAST | 26 | |
Intramembranei | 164 – 171 | HelicalSequence analysis | 8 | |
Transmembranei | 180 – 198 | HelicalBy similarityAdd BLAST | 19 | |
Transmembranei | 205 – 223 | HelicalBy similarityAdd BLAST | 19 | |
Intramembranei | 239 – 251 | HelicalBy similarityAdd BLAST | 13 | |
Intramembranei | 255 – 263 | HelicalBy similarity | 9 | |
Transmembranei | 275 – 295 | HelicalBy similarityAdd BLAST | 21 | |
Transmembranei | 321 – 349 | HelicalBy similarityAdd BLAST | 29 | |
Transmembranei | 358 – 377 | HelicalBy similarityAdd BLAST | 20 | |
Transmembranei | 429 – 449 | HelicalBy similarityAdd BLAST | 21 | |
Transmembranei | 457 – 480 | HelicalBy similarityAdd BLAST | 24 | |
Intramembranei | 497 – 511 | HelicalBy similarityAdd BLAST | 15 | |
Intramembranei | 512 – 513 | Note=Loop between two helicesBy similarity | 2 | |
Intramembranei | 514 – 525 | HelicalBy similarityAdd BLAST | 12 | |
Intramembranei | 526 – 530 | Note=Loop between two helicesBy similarity | 5 | |
Transmembranei | 531 – 548 | HelicalBy similarityAdd BLAST | 18 | |
Topological domaini | 549 – 898 | CytoplasmicBy similarityAdd BLAST | 350 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Involvement in diseasei
Epilepsy, idiopathic generalized 11 (EIG11)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_057890 | 577 | R → Q in EIG11; associated with disease susceptibility; the mutant channel has accelerated deactivation rates compared to wild-type, but normal activation and peak current. 1 PublicationCorresponds to variant dbSNP:rs137852682EnsemblClinVar. | 1 |
Juvenile absence epilepsy 2 (JAE2)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_015989 | 715 | G → E in JAE2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs137852681EnsemblClinVar. | 1 |
Juvenile myoclonic epilepsy 8 (EJM8)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_057889 | 235 | R → Q in EJM8; associated with disease susceptibility; the mutant channel has accelerated deactivation rates compared to wild-type, but normal activation and peak current. 1 PublicationCorresponds to variant dbSNP:rs71318369EnsemblClinVar. | 1 |
Leukoencephalopathy with ataxia (LKPAT)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070976 | 144 – 145 | Missing in LKPAT; loss of function mutation; the mutant protein is restricted to the endoplasmic reticulum and hardly reached the plasma membrane; lower amounts of the mutant protein compared to wild-type. 1 Publication | 2 | |
Natural variantiVAR_070977 | 500 | A → V in LKPAT; loss of function mutation; the mutant protein is restricted to the endoplasmic reticulum and hardly reaches the plasma membrane; lower amounts of the mutant protein compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs587777111EnsemblClinVar. | 1 |
Hyperaldosteronism, familial, 2 (HALD2)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081154 | 22 | M → K in HALD2; increased voltage-gated chloride currents due to higher channel open probabilities at physiological cell membrane potentials. 1 PublicationCorresponds to variant dbSNP:rs758379595EnsemblClinVar. | 1 | |
Natural variantiVAR_081155 | 24 | G → D in HALD2; increased voltage-gated chloride currents; increased aldosterone synthase expression. 1 PublicationCorresponds to variant dbSNP:rs1085307938EnsemblClinVar. | 1 | |
Natural variantiVAR_081156 | 26 | Y → N in HALD2; increased voltage-gated chloride currents due to higher channel open probabilitiesat at physiological cell membrane potentials. 1 PublicationCorresponds to variant dbSNP:rs1553857113EnsemblClinVar. | 1 | |
Natural variantiVAR_081157 | 172 | R → Q in HALD2; increased voltage-gated chloride currents due to higher channel open probabilities at physiological cell membrane potentials; increased aldosterone synthase expression. 1 PublicationCorresponds to variant dbSNP:rs1293789661EnsemblClinVar. | 1 | |
Natural variantiVAR_081158 | 362 | Missing in HALD2; increased voltage-gated chloride currents due to higher channel open probabilities at physiological cell membrane potentials. 1 Publication | 1 | |
Natural variantiVAR_081159 | 865 | S → R in HALD2; increased voltage-gated chloride currents due to higher channel open probabilities at physiological cell membrane potentials. 1 PublicationCorresponds to variant dbSNP:rs1553853557EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, EpilepsyOrganism-specific databases
DisGeNETi | 1181 |
GeneReviewsi | CLCN2 |
MalaCardsi | CLCN2 |
MIMi | 605635, phenotype 607628, phenotype 615651, phenotype |
OpenTargetsi | ENSG00000114859 |
Orphaneti | 404, Familial hyperaldosteronism type II 307, Juvenile myoclonic epilepsy 363540, Leukoencephalopathy with mild cerebellar ataxia and white matter edema |
PharmGKBi | PA26547 |
Miscellaneous databases
Pharosi | P51788, Tclin |
Chemistry databases
ChEMBLi | CHEMBL1628478 |
DrugBanki | DB05514, Cobiprostone DB01046, Lubiprostone |
DrugCentrali | P51788 |
GuidetoPHARMACOLOGYi | 699 |
Genetic variation databases
BioMutai | CLCN2 |
DMDMi | 288558807 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000094433 | 2 – 898 | Chloride channel protein 2Add BLAST | 897 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanineCombined sources | 1 | |
Modified residuei | 20 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 712 | PhosphoserineCombined sources | 1 | |
Modified residuei | 758 | PhosphoserineBy similarity | 1 |
Post-translational modificationi
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | P51788 |
jPOSTi | P51788 |
MassIVEi | P51788 |
MaxQBi | P51788 |
PaxDbi | P51788 |
PeptideAtlasi | P51788 |
PRIDEi | P51788 |
ProteomicsDBi | 19203 19425 56385 [P51788-1] 56387 [P51788-3] |
PTM databases
GlyGeni | P51788, 1 site |
iPTMneti | P51788 |
PhosphoSitePlusi | P51788 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000114859, Expressed in sural nerve and 137 other tissues |
ExpressionAtlasi | P51788, baseline and differential |
Genevisiblei | P51788, HS |
Organism-specific databases
HPAi | ENSG00000114859, Tissue enhanced (intestine) |
Interactioni
Binary interactionsi
Protein-protein interaction databases
BioGRIDi | 107595, 50 interactors |
IntActi | P51788, 33 interactors |
STRINGi | 9606.ENSP00000265593 |
Miscellaneous databases
RNActi | P51788, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 584 – 642 | CBS 1PROSITE-ProRule annotationAdd BLAST | 59 | |
Domaini | 790 – 850 | CBS 2PROSITE-ProRule annotationAdd BLAST | 61 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 643 – 672 | DisorderedSequence analysisAdd BLAST | 30 | |
Regioni | 686 – 717 | DisorderedSequence analysisAdd BLAST | 32 | |
Regioni | 856 – 898 | DisorderedSequence analysisAdd BLAST | 43 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 161 – 165 | Selectivity filter part_1By similarity | 5 | |
Motifi | 203 – 207 | Selectivity filter part_2By similarity | 5 | |
Motifi | 457 – 461 | Selectivity filter part_3By similarity | 5 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 857 – 871 | Polar residuesSequence analysisAdd BLAST | 15 |
Sequence similaritiesi
Keywords - Domaini
CBS domain, Repeat, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG0476, Eukaryota |
GeneTreei | ENSGT00940000155439 |
HOGENOMi | CLU_006904_0_1_1 |
InParanoidi | P51788 |
OMAi | ACFMFNN |
OrthoDBi | 1131873at2759 |
PhylomeDBi | P51788 |
TreeFami | TF300522 |
Family and domain databases
Gene3Di | 3.10.580.10, 2 hits |
InterProi | View protein in InterPro IPR046342, CBS_dom_sf IPR002244, Cl-channel-2 IPR014743, Cl-channel_core IPR001807, Cl-channel_volt-gated |
Pfami | View protein in Pfam PF00654, Voltage_CLC, 1 hit |
PRINTSi | PR00762, CLCHANNEL PR01113, CLCHANNEL2 |
SUPFAMi | SSF54631, SSF54631, 1 hit SSF81340, SSF81340, 1 hit |
PROSITEi | View protein in PROSITE PS51371, CBS, 2 hits |
s (5+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 5 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 5 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAAAAAEEGM EPRALQYEQT LMYGRYTQDL GAFAKEEAAR IRLGGPEPWK
60 70 80 90 100
GPPSSRAAPE LLEYGRSRCA RCRVCSVRCH KFLVSRVGED WIFLVLLGLL
110 120 130 140 150
MALVSWVMDY AIAACLQAQQ WMSRGLNTSI LLQYLAWVTY PVVLITFSAG
160 170 180 190 200
FTQILAPQAV GSGIPEMKTI LRGVVLKEYL TLKTFIAKVI GLTCALGSGM
210 220 230 240 250
PLGKEGPFVH IASMCAALLS KFLSLFGGIY ENESRNTEML AAACAVGVGC
260 270 280 290 300
CFAAPIGGVL FSIEVTSTFF AVRNYWRGFF AATFSAFIFR VLAVWNRDEE
310 320 330 340 350
TITALFKTRF RLDFPFDLQE LPAFAVIGIA SGFGGALFVY LNRKIVQVMR
360 370 380 390 400
KQKTINRFLM RKRLLFPALV TLLISTLTFP PGFGQFMAGQ LSQKETLVTL
410 420 430 440 450
FDNRTWVRQG LVEELEPPST SQAWNPPRAN VFLTLVIFIL MKFWMSALAT
460 470 480 490 500
TIPVPCGAFM PVFVIGAAFG RLVGESMAAW FPDGIHTDSS TYRIVPGGYA
510 520 530 540 550
VVGAAALAGA VTHTVSTAVI VFELTGQIAH ILPVMIAVIL ANAVAQSLQP
560 570 580 590 600
SLYDSIIRIK KLPYLPELGW GRHQQYRVRV EDIMVRDVPH VALSCTFRDL
610 620 630 640 650
RLALHRTKGR MLALVESPES MILLGSIERS QVVALLGAQL SPARRRQHMQ
660 670 680 690 700
ERRATQTSPL SDQEGPPTPE ASVCFQVNTE DSAFPAARGE THKPLKPALK
710 720 730 740 750
RGPSVTRNLG ESPTGSAESA GIALRSLFCG SPPPEAASEK LESCEKRKLK
760 770 780 790 800
RVRISLASDA DLEGEMSPEE ILEWEEQQLD EPVNFSDCKI DPAPFQLVER
810 820 830 840 850
TSLHKTHTIF SLLGVDHAYV TSIGRLIGIV TLKELRKAIE GSVTAQGVKV
860 870 880 890
RPPLASFRDS ATSSSDTETT EVHALWGPHS RHGLPREGSP SDSDDKCQ
The sequence of this isoform differs from the canonical sequence as follows:
1-359: Missing.
443-485: FWMSALATTI...SMAAWFPDGI → HLGVWWVKAW...WSGQLRWQER
486-898: Missing.
Computationally mapped potential isoform sequencesi
There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A1B0GVU4 | A0A1B0GVU4_HUMAN | Chloride channel protein 2 | CLCN2 | 277 | Annotation score: | ||
A0A1B0GV52 | A0A1B0GV52_HUMAN | Chloride channel protein 2 | CLCN2 | 288 | Annotation score: | ||
A0A1B0GUZ8 | A0A1B0GUZ8_HUMAN | Chloride channel protein 2 | CLCN2 | 465 | Annotation score: | ||
A0A1B0GUY6 | A0A1B0GUY6_HUMAN | Chloride channel protein 2 | CLCN2 | 449 | Annotation score: | ||
A0A1B0GVL9 | A0A1B0GVL9_HUMAN | Chloride channel protein 2 | CLCN2 | 305 | Annotation score: | ||
A0A1B0GTY0 | A0A1B0GTY0_HUMAN | Chloride channel protein 2 | CLCN2 | 113 | Annotation score: | ||
A0A1B0GTJ3 | A0A1B0GTJ3_HUMAN | Chloride channel protein 2 | CLCN2 | 96 | Annotation score: | ||
A0A1B0GVW7 | A0A1B0GVW7_HUMAN | Chloride channel protein 2 | CLCN2 | 256 | Annotation score: | ||
A0A1B0GWC8 | A0A1B0GWC8_HUMAN | Chloride channel protein 2 | CLCN2 | 155 | Annotation score: | ||
H7C0Q8 | H7C0Q8_HUMAN | Chloride channel protein 2 | CLCN2 | 133 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 17 | Y → H in AAB34722 (PubMed:7795595).Curated | 1 | |
Sequence conflicti | 537 | A → V in AAH21578 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081154 | 22 | M → K in HALD2; increased voltage-gated chloride currents due to higher channel open probabilities at physiological cell membrane potentials. 1 PublicationCorresponds to variant dbSNP:rs758379595EnsemblClinVar. | 1 | |
Natural variantiVAR_081155 | 24 | G → D in HALD2; increased voltage-gated chloride currents; increased aldosterone synthase expression. 1 PublicationCorresponds to variant dbSNP:rs1085307938EnsemblClinVar. | 1 | |
Natural variantiVAR_081156 | 26 | Y → N in HALD2; increased voltage-gated chloride currents due to higher channel open probabilitiesat at physiological cell membrane potentials. 1 PublicationCorresponds to variant dbSNP:rs1553857113EnsemblClinVar. | 1 | |
Natural variantiVAR_057886 | 48 | P → R Reduces channel activity. 1 PublicationCorresponds to variant dbSNP:rs115661422EnsemblClinVar. | 1 | |
Natural variantiVAR_057887 | 68 | R → H Reduces channel activity. 1 PublicationCorresponds to variant dbSNP:rs61729156EnsemblClinVar. | 1 | |
Natural variantiVAR_070976 | 144 – 145 | Missing in LKPAT; loss of function mutation; the mutant protein is restricted to the endoplasmic reticulum and hardly reached the plasma membrane; lower amounts of the mutant protein compared to wild-type. 1 Publication | 2 | |
Natural variantiVAR_081157 | 172 | R → Q in HALD2; increased voltage-gated chloride currents due to higher channel open probabilities at physiological cell membrane potentials; increased aldosterone synthase expression. 1 PublicationCorresponds to variant dbSNP:rs1293789661EnsemblClinVar. | 1 | |
Natural variantiVAR_057888 | 199 | G → A No effect. 1 PublicationCorresponds to variant dbSNP:rs863225248EnsemblClinVar. | 1 | |
Natural variantiVAR_057889 | 235 | R → Q in EJM8; associated with disease susceptibility; the mutant channel has accelerated deactivation rates compared to wild-type, but normal activation and peak current. 1 PublicationCorresponds to variant dbSNP:rs71318369EnsemblClinVar. | 1 | |
Natural variantiVAR_081158 | 362 | Missing in HALD2; increased voltage-gated chloride currents due to higher channel open probabilities at physiological cell membrane potentials. 1 Publication | 1 | |
Natural variantiVAR_070977 | 500 | A → V in LKPAT; loss of function mutation; the mutant protein is restricted to the endoplasmic reticulum and hardly reaches the plasma membrane; lower amounts of the mutant protein compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs587777111EnsemblClinVar. | 1 | |
Natural variantiVAR_057890 | 577 | R → Q in EIG11; associated with disease susceptibility; the mutant channel has accelerated deactivation rates compared to wild-type, but normal activation and peak current. 1 PublicationCorresponds to variant dbSNP:rs137852682EnsemblClinVar. | 1 | |
Natural variantiVAR_057891 | 644 | R → C No effect. 1 PublicationCorresponds to variant dbSNP:rs148545588EnsemblClinVar. | 1 | |
Natural variantiVAR_057892 | 646 | R → Q Reduces channel activity. 1 PublicationCorresponds to variant dbSNP:rs115961753EnsemblClinVar. | 1 | |
Natural variantiVAR_054550 | 668 | T → S3 PublicationsCorresponds to variant dbSNP:rs9820367EnsemblClinVar. | 1 | |
Natural variantiVAR_015989 | 715 | G → E in JAE2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs137852681EnsemblClinVar. | 1 | |
Natural variantiVAR_054551 | 718 | E → D. Corresponds to variant dbSNP:rs2228292EnsemblClinVar. | 1 | |
Natural variantiVAR_058426 | 719 | S → L Found in a patient with childhood absence epilepsy; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs138573287Ensembl. | 1 | |
Natural variantiVAR_057893 | 725 | R → W Slightly faster channel activation. 1 PublicationCorresponds to variant dbSNP:rs114702742EnsemblClinVar. | 1 | |
Natural variantiVAR_057894 | 747 | R → H Slightly faster channel activation. 1 PublicationCorresponds to variant dbSNP:rs144164281EnsemblClinVar. | 1 | |
Natural variantiVAR_081159 | 865 | S → R in HALD2; increased voltage-gated chloride currents due to higher channel open probabilities at physiological cell membrane potentials. 1 PublicationCorresponds to variant dbSNP:rs1553853557EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_007831 | 1 – 359 | Missing in isoform 2. 1 PublicationAdd BLAST | 359 | |
Alternative sequenceiVSP_045457 | 74 – 117 | Missing in isoform 4. 1 PublicationAdd BLAST | 44 | |
Alternative sequenceiVSP_007832 | 443 – 485 | FWMSA…FPDGI → HLGVWWVKAWLPGSQMEFIR TAAPTGLCLGATLWSGQLRW QER in isoform 2. 1 PublicationAdd BLAST | 43 | |
Alternative sequenceiVSP_036456 | 466 – 482 | Missing in isoform 3. 1 PublicationAdd BLAST | 17 | |
Alternative sequenceiVSP_036455 | 486 – 898 | Missing in isoform 2. 1 PublicationAdd BLAST | 413 | |
Alternative sequenceiVSP_045458 | 806 – 834 | Missing in isoform 5. 1 PublicationAdd BLAST | 29 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | S77770 mRNA Translation: AAB34722.2 AF026004 mRNA Translation: AAB88807.1 AK298952 mRNA Translation: BAG61051.1 AK302759 mRNA Translation: BAG63970.1 AC078797 Genomic DNA No translation available. BC021578 mRNA Translation: AAH21578.1 Sequence problems. BC072004 mRNA Translation: AAH72004.1 |
CCDSi | CCDS3263.1 [P51788-1] CCDS54690.1 [P51788-4] CCDS54691.1 [P51788-3] CCDS54692.1 [P51788-5] |
RefSeqi | NP_001164558.1, NM_001171087.2 [P51788-3] NP_001164559.1, NM_001171088.2 [P51788-4] NP_001164560.1, NM_001171089.2 [P51788-5] NP_004357.3, NM_004366.5 [P51788-1] |
Genome annotation databases
Ensembli | ENST00000265593.9; ENSP00000265593.4; ENSG00000114859.16 ENST00000344937.11; ENSP00000345056.7; ENSG00000114859.16 [P51788-3] ENST00000434054.6; ENSP00000400425.2; ENSG00000114859.16 [P51788-4] ENST00000457512.1; ENSP00000391928.1; ENSG00000114859.16 [P51788-5] |
GeneIDi | 1181 |
KEGGi | hsa:1181 |
MANE-Selecti | ENST00000265593.9; ENSP00000265593.4; NM_004366.6; NP_004357.3 |
UCSCi | uc003foi.4, human [P51788-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | S77770 mRNA Translation: AAB34722.2 AF026004 mRNA Translation: AAB88807.1 AK298952 mRNA Translation: BAG61051.1 AK302759 mRNA Translation: BAG63970.1 AC078797 Genomic DNA No translation available. BC021578 mRNA Translation: AAH21578.1 Sequence problems. BC072004 mRNA Translation: AAH72004.1 |
CCDSi | CCDS3263.1 [P51788-1] CCDS54690.1 [P51788-4] CCDS54691.1 [P51788-3] CCDS54692.1 [P51788-5] |
RefSeqi | NP_001164558.1, NM_001171087.2 [P51788-3] NP_001164559.1, NM_001171088.2 [P51788-4] NP_001164560.1, NM_001171089.2 [P51788-5] NP_004357.3, NM_004366.5 [P51788-1] |
3D structure databases
AlphaFoldDBi | P51788 |
SMRi | P51788 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 107595, 50 interactors |
IntActi | P51788, 33 interactors |
STRINGi | 9606.ENSP00000265593 |
Chemistry databases
ChEMBLi | CHEMBL1628478 |
DrugBanki | DB05514, Cobiprostone DB01046, Lubiprostone |
DrugCentrali | P51788 |
GuidetoPHARMACOLOGYi | 699 |
Protein family/group databases
TCDBi | 2.A.49.2.12, the chloride carrier/channel (clc) family |
PTM databases
GlyGeni | P51788, 1 site |
iPTMneti | P51788 |
PhosphoSitePlusi | P51788 |
Genetic variation databases
BioMutai | CLCN2 |
DMDMi | 288558807 |
Proteomic databases
EPDi | P51788 |
jPOSTi | P51788 |
MassIVEi | P51788 |
MaxQBi | P51788 |
PaxDbi | P51788 |
PeptideAtlasi | P51788 |
PRIDEi | P51788 |
ProteomicsDBi | 19203 19425 56385 [P51788-1] 56387 [P51788-3] |
Protocols and materials databases
Antibodypediai | 2994, 309 antibodies from 35 providers |
DNASUi | 1181 |
Genome annotation databases
Ensembli | ENST00000265593.9; ENSP00000265593.4; ENSG00000114859.16 ENST00000344937.11; ENSP00000345056.7; ENSG00000114859.16 [P51788-3] ENST00000434054.6; ENSP00000400425.2; ENSG00000114859.16 [P51788-4] ENST00000457512.1; ENSP00000391928.1; ENSG00000114859.16 [P51788-5] |
GeneIDi | 1181 |
KEGGi | hsa:1181 |
MANE-Selecti | ENST00000265593.9; ENSP00000265593.4; NM_004366.6; NP_004357.3 |
UCSCi | uc003foi.4, human [P51788-1] |
Organism-specific databases
CTDi | 1181 |
DisGeNETi | 1181 |
GeneCardsi | CLCN2 |
GeneReviewsi | CLCN2 |
HGNCi | HGNC:2020, CLCN2 |
HPAi | ENSG00000114859, Tissue enhanced (intestine) |
MalaCardsi | CLCN2 |
MIMi | 600570, gene 605635, phenotype 607628, phenotype 615651, phenotype |
neXtProti | NX_P51788 |
OpenTargetsi | ENSG00000114859 |
Orphaneti | 404, Familial hyperaldosteronism type II 307, Juvenile myoclonic epilepsy 363540, Leukoencephalopathy with mild cerebellar ataxia and white matter edema |
PharmGKBi | PA26547 |
VEuPathDBi | HostDB:ENSG00000114859 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0476, Eukaryota |
GeneTreei | ENSGT00940000155439 |
HOGENOMi | CLU_006904_0_1_1 |
InParanoidi | P51788 |
OMAi | ACFMFNN |
OrthoDBi | 1131873at2759 |
PhylomeDBi | P51788 |
TreeFami | TF300522 |
Enzyme and pathway databases
PathwayCommonsi | P51788 |
Reactomei | R-HSA-2672351, Stimuli-sensing channels |
SignaLinki | P51788 |
Miscellaneous databases
BioGRID-ORCSi | 1181, 8 hits in 1076 CRISPR screens |
ChiTaRSi | CLCN2, human |
GeneWikii | CLCN2 |
GenomeRNAii | 1181 |
Pharosi | P51788, Tclin |
PROi | PR:P51788 |
RNActi | P51788, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000114859, Expressed in sural nerve and 137 other tissues |
ExpressionAtlasi | P51788, baseline and differential |
Genevisiblei | P51788, HS |
Family and domain databases
Gene3Di | 3.10.580.10, 2 hits |
InterProi | View protein in InterPro IPR046342, CBS_dom_sf IPR002244, Cl-channel-2 IPR014743, Cl-channel_core IPR001807, Cl-channel_volt-gated |
Pfami | View protein in Pfam PF00654, Voltage_CLC, 1 hit |
PRINTSi | PR00762, CLCHANNEL PR01113, CLCHANNEL2 |
SUPFAMi | SSF54631, SSF54631, 1 hit SSF81340, SSF81340, 1 hit |
PROSITEi | View protein in PROSITE PS51371, CBS, 2 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | CLCN2_HUMAN | |
Accessioni | P51788Primary (citable) accession number: P51788 Secondary accession number(s): B4DQT9 Q8WU13 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1996 |
Last sequence update: | February 9, 2010 | |
Last modified: | May 25, 2022 | |
This is version 196 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families