(data stored in ACNUC15468 zone)

HOGENOM: HS3_PE5568

ID   HS3_PE5568                           STANDARD;      PRT;   898 AA.
AC   HS3_PE5568; P51788; O14864; Q6IPA9; Q8WU13;
DT   00-JAN-0000 (Rel. 1, Created)
DT   00-JAN-0000 (Rel. 2, Last sequence update)
DT   00-JAN-0000 (Rel. 3, Last annotation update)
DE   RecName: Full=Chloride channel protein 2; Short=ClC-2; (HS3.PE5568).
GN   Name=CLCN2;
OS   HOMO SAPIENS.
OC   Eukaryota; Metazoa; Eumetazoa; Bilateria; Coelomata; Deuterostomia;
OC   Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi; Euteleostomi;
OC   Sarcopterygii; Tetrapoda; Amniota; Mammalia; Theria; Eutheria;
OC   Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini;
OC   Hominoidea; Hominidae; Homininae; Homo.
OX   NCBI_TaxID=9606;
RN   [0]
RP   -.;
RG   -.;
RL   -.;
CC   -!- SEQ. DATA ORIGIN: Translated from the HOGENOM CDS HS3.PE5568.
CC       Homo sapiens chromosome 3 GRCh37  sequence 1..197962430 annotated by
CC       Ensembl
CC   -!- ANNOTATIONS ORIGIN:CLCN2_HUMAN
CC   -!- FUNCTION: Voltage-gated chloride channel. Chloride channels have
CC       several functions including the regulation of cell volume;
CC       membrane potential stabilization, signal transduction and
CC       transepithelial transport.
CC   -!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=P51788-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=P51788-2; Sequence=VSP_007831, VSP_007832, VSP_036455;
CC         Note=May be produced at very low levels due to a premature stop
CC         codon in the mRNA, leading to nonsense-mediated mRNA decay;
CC       Name=3;
CC         IsoId=P51788-3; Sequence=VSP_036456;
CC   -!- TISSUE SPECIFICITY: Ubiquitously expressed. Moderately expressed
CC       in aortic and coronary vascular smooth muscle cells and expressed
CC       at a low level in aortic endothelial cells.
CC   -!- DISEASE: Defects in CLCN2 are associated with susceptibility to
CC       idiopathic generalized epilepsy type 11 (IGE11) [MIM:607628]. A
CC       disorder characterized by recurring generalized seizures in the
CC       absence of detectable brain lesions and/or metabolic
CC       abnormalities. Generalized seizures arise diffusely and
CC       simultaneously from both hemispheres of the brain.
CC   -!- DISEASE: Defects in CLCN2 are associated with juvenile absence
CC       epilepsy type 2 (JAE2) [MIM:607628]. JAE is a subtype of
CC       idiopathic generalized epilepsy (IGE) characterized by onset
CC       occurring around puberty, absence seizures, generalized tonic-
CC       clonic seizures (GTCS), GTCS on awakening and myoclonic seizures.
CC   -!- DISEASE: Defects in CLCN2 are associated with juvenile myoclonic
CC       epilepsy type 8 (EJM8) [MIM:607628]. A subtype of idiopathic
CC       generalized epilepsy. Patients have afebrile seizures only, with
CC       onset in adolescence (rather than in childhood) and myoclonic
CC       jerks which usually occur after awakening and are triggered by
CC       sleep deprivation and fatigue.
CC   -!- MISCELLANEOUS: The CLC channel family contains both chloride
CC       channels and proton-coupled anion transporters that exchange
CC       chloride or another anion for protons. The absence of conserved
CC       gating glutamate residues is typical for family members that
CC       function as channels (By similarity).
CC   -!- SIMILARITY: Belongs to the chloride channel (TC 2.A.49) family.
CC       ClC-2/CLCN2 subfamily.
CC   -!- SIMILARITY: Contains 2 CBS domains.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAH21578.1; Type=Erroneous translation; Note=Wrong choice of frame;
CC   -!- WEB RESOURCE: Name=GeneReviews;
CC       URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CLCN2";
CC   -!- GENE_FAMILY: HOG000231297 [ FAMILY / ALN / TREE ]
DR   HOGENOM:Homo_sapiens;ENSG00000114859;ENST00000265593;ENSP00000265593.
DR   EMBL; AF026004; - ;
DR   EMBL; AK302389; - ;
DR   EMBL; BC021578; - ;
DR   EMBL; BC072004; - ;
DR   EMBL; S77770; - ;
DR   UniProtKB/Swiss-Prot; P51788; O14864; Q6IPA9; Q8WU13; -.
DR   EMBL; S77770; AAB34722.2; -; mRNA.
DR   EMBL; AF026004; AAB88807.1; -; mRNA.
DR   EMBL; BC021578; AAH21578.1; ALT_SEQ; mRNA.
DR   EMBL; BC072004; AAH72004.1; -; mRNA.
DR   IPI; IPI00020504; -.
DR   IPI; IPI00290972; -.
DR   IPI; IPI00922766; -.
DR   RefSeq; NP_001164558.1; NM_001171087.1.
DR   RefSeq; NP_001164559.1; NM_001171088.1.
DR   RefSeq; NP_001164560.1; NM_001171089.1.
DR   RefSeq; NP_004357.3; NM_004366.4.
DR   UniGene; Hs.436847; -.
DR   ProteinModelPortal; P51788; -.
DR   SMR; P51788; 90-560, 570-841.
DR   STRING; P51788; -.
DR   PhosphoSite; P51788; -.
DR   PRIDE; P51788; -.
DR   Ensembl; ENST00000265593; ENSP00000265593; ENSG00000114859.
DR   GeneID; 1181; -.
DR   KEGG; hsa:1181; -.
DR   UCSC; uc003foh.2; human.
DR   UCSC; uc003foi.2; human.
DR   CTD; 1181; -.
DR   GeneCards; GC03M181470; -.
DR   HGNC; HGNC:2020; CLCN2.
DR   HPA; CAB009397; -.
DR   HPA; HPA014545; -.
DR   HPA; HPA024108; -.
DR   MIM; 600570; gene.
DR   MIM; 607628; phenotype.
DR   neXtProt; NX_P51788; -.
DR   Orphanet; 307; Juvenile myoclonic epilepsy.
DR   eggNOG; prNOG10115; -.
DR   GeneTree; ENSGT00550000074179; -.
DR   InParanoid; P51788; -.
DR   OMA; RRRQHMQ; -.
DR   OrthoDB; EOG4G7BXQ; -.
DR   DrugBank; DB01046; Lubiprostone.
DR   NextBio; 4880; -.
DR   ArrayExpress; P51788; -.
DR   Bgee; P51788; -.
DR   CleanEx; HS_CLCN2; -.
DR   Genevestigator; P51788; -.
DR   GermOnline; ENSG00000114859; Homo sapiens.
DR   GO; GO:0034707; C:chloride channel complex; IEA:UniProtKB-KW.
DR   GO; GO:0005247; F:voltage-gated chloride channel activity; TAS:ProtInc.
DR   InterPro; IPR002244; Cl-channel-2.
DR   InterPro; IPR014743; Cl-channel_core.
DR   InterPro; IPR001807; Cl-channel_volt-gated.
DR   InterPro; IPR000644; Cysta_beta_synth_core.
DR   Gene3D; G3DSA:1.10.3080.10; Cl-channel_core; 1.
DR   PANTHER; PTHR11689; Cl-channel_volt; 1.
DR   Pfam; PF00571; CBS; 1.
DR   Pfam; PF00654; Voltage_CLC; 1.
DR   PRINTS; PR00762; CLCHANNEL.
DR   PRINTS; PR01113; CLCHANNEL2.
DR   SMART; SM00116; CBS; 1.
DR   SUPFAM; SSF81340; Cl-channel_core; 1.
DR   PROSITE; PS51371; CBS; 2.
DR   HOGENOMDNA; HS3.PE5568; -.
KW   ENSG000001148591755old_1320000031; ENSP000002655937901old_1320000031;
KW   B4DYE3_HUMAN; AF026004; AK302389; BC021578; BC072004; S77770;
KW   Alternative splicing; CBS domain; Chloride; Chloride channel;
KW   Complete proteome; Disease mutation; Epilepsy; Ion transport;
KW   Ionic channel; Membrane; Polymorphism; Reference proteome; Repeat;
KW   Transmembrane; Transmembrane helix; Transport; Voltage-gated channel.
SQ   SEQUENCE   898 AA;  UNKNOWN MW;  UNKNOWN CRC64;
     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
//

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