CLCN1 Gene
protein-coding GIFtS: 60
GCID: GC07P143013
|
|
chloride channel, voltage-sensitive 1(Previous names: chloride channel 1, skeletal muscle )
| |
Aliases
for CLCN1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Chloride Channel, Voltage-Sensitive 11 2 | | Chloride Channel Protein, Skeletal Muscle2 3 | | CLC11 2 3 | | Chloride Channel Protein 12 | | Chloride Channel 1, Skeletal Muscle1 2 | | ClC-11 3 | | ClC-11 3 | | |
Export aliases for CLCN1 gene to outside databasesPrevious GC identifers: GC07P141339 GC07P142407 GC07P142484 GC07P142530 GC07P142723 GC07P137350 |
Summaries
for CLCN1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for CLCN1:
The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) whichdemonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encodedby this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause twoforms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia(Thomsen). Alternative splicing results in multiple transcript variants. (provided by RefSeq, Mar 2012)
UniProtKB/Swiss-Prot: CLCN1_HUMAN, P35523Function: Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cellvolume; membrane potential stabilization, signal transduction and transepithelial transport
Gene Wiki entry for CLCN1
|
Genomic Views
for CLCN1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000007.13 NC_018918.1 NT_007914.15 NT_079596.2
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the CLCN1 gene promoter:
Max1 Sox5 MIF-1 AREB6 PPAR-gamma1 FOXO4 PPAR-gamma2 MRF-2 c-Myc
Other transcription factors
Search SABiosciences Chromatin IP Primers for CLCN1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CLCN1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 7q35 Ensembl cytogenetic band: 7q34 HGNC cytogenetic band: 7q12CLCN1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 7 GeneLoc Exon Structure GeneLoc location for GC07P143013: view genomic region
(about GC identifiers)
Start:
|
143,013,219 bp from pter |
End:
|
143,049,176 bp from pter |
Size:
|
35,958 bases |
Orientation:
|
plus strand |
1 alternative location:
| Chr7+,CRA_TCAG 142,415,337-142,451,223 |
|
Proteins
for CLCN1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: CLCN1_HUMAN, P35523 (See
protein sequence)Recommended Name: Chloride channel protein 1 Size: 988 amino acids; 108626 Da
Subunit: Homotetramer (Probable)
Subcellular location: Membrane; Multi-pass membrane protein
Miscellaneous: The CLC channel family contains both chloride channels and proton-coupled anion transporters thatexchange chloride or another anion for protons. The absence of conserved gating glutamate residues is typical forfamily members that function as channels
Secondary accessions: A4D2H5 Q2M202Explore the universe of human proteins at neXtProt for CLCN1: NX_P35523
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P35523
CLCN1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_000074.2
ENSEMBL proteins: ENSP00000339867 ENSP00000395949 ENSP00000400027 Reactome Protein details: P35523
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
CLCN1 for ontologies About GeneDecksing
CLCN1 Antibody Products:
Assay Products for CLCN1: |
Protein
Domains /
Families
for CLCN1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CLCN1 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P35523ProtoNet protein and cluster: P35523 3 Blocks protein families: IPB000644 CBS domain IPB001807 Chloride channel signature IPB002243 CLC-1 chloride channel signature
UniProtKB/Swiss-Prot: CLCN1_HUMAN, P35523Similarity: Belongs to the chloride channel (TC 2.A.49) family. ClC-1/CLCN1 subfamilySimilarity: Contains 2 CBS domains |
Function
for CLCN1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: CLCN1_HUMAN, P35523Function: Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cellvolume; membrane potential stabilization, signal transduction and transepithelial transport Genatlas biochemistry entry for CLCN1:chloride voltage-gated channel 1,skeletal muscle
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CLCN1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CLCN1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: CLCN1 (NM_000083) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CLCN1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CLCN1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLCN1 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005247 | voltage-gated chloride channel activity |
IEA | -- | | GO:0005254 | chloride channel activity |
TAS | 1379744 |
CLCN1 for ontologies About GeneDecksing
3 GenomeRNAi human phenotypes for CLCN1:
Animal Models:
12 MGI mutant phenotypes (inferred from 9 alleles ) (MGI details for Clcn1):
CLCN1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for CLCN1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Activation of cAMP-Dependent PKA | | | 2 | Ion channel transport | | | 3 | Hepatic ABC Transporters | | | 4 | SLC-mediated transmembrane transport | | | 5 | Neuropathic Pain-Signaling in Dorsal Horn Neurons | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CLCN1
3 
Reactome Pathways for CLCN1
CLCN1 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CLCN1
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table
CLCN1 for ontologies About GeneDecksing
|
Drugs & Compounds
for CLCN1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
CLCN1 for compounds About GeneDecksing
 Browse Tocris compounds for CLCN1
1 HMDB Compound for CLCN1 About this table
2 Novoseek chemical compound relationships for CLCN1 gene About this table
Search CenterWatch for drugs/clinical trials and news about CLCN1
|
Transcripts
for CLCN1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for CLCN1 gene: NM_000083.2 Unigene Cluster for CLCN1: Chloride channel, voltage-sensitive 1 Hs.121483 [show with all ESTs]Unigene Representative Sequence: NM_0000834 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000343257(uc003wcr.1 uc011ktc.1 uc010loy.1) ENST00000432192(uc010lox.1)
ENST00000455478(uc003wcs.1) ENST00000495612
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CLCN1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CLCN1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: CLCN1 (NM_000083) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CLCN1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CLCN1 |
Additional cDNA sequence: AY103154.1 AY103155.1 AY103156.1 BC112156.1 BC113495.1 BC143796.1 M97820.1 NR_046453.1 Z25884.1 1 DOTS entry: DT.306330 7 AceView cDNA sequences: AY103156 Z25884 NM_000083 M97820 AY103154 AY103155 BF349282
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for CLCN1 About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 |
|---|
|
| SP1: | | | | | | | | | | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | - | | - | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for CLCN1
|
Expression
for CLCN1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| CLCN1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGGAAGCTCA
About this image
See CLCN1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CLCN1
SOURCE GeneReport for Unigene cluster: Hs.121483
UniProtKB/Swiss-Prot: CLCN1_HUMAN, P35523Tissue specificity: Predominantly expressed in skeletal muscles
SABiosciences Custom PCR Arrays for CLCN1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CLCN1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CLCN1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CLCN1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CLCN1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLCN1 |
Orthologs
for CLCN1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for CLCN1 gene from 8/26 species (see all 26) About this table
ENSEMBL Gene Tree for CLCN1 (if available)
TreeFam Gene Tree for CLCN1 (if available) |
Paralogs
for CLCN1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for CLCN1 gene
- CLCN42 CLCNKB2 CLCN62 CLCN52 CLCN72 CLCN32 CLCNKA2 CLCN22
6 SIMAP similar genes for CLCN1 using alignment to 4 protein entries: CLCN1_HUMAN (see all proteins):CLCN3 CLCN2 CLCNKA CLCN6 CLCN7 CLCNKB
CLCN1 for paralogs About GeneDecksing
|
Genomic Variants
for CLCN1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 7 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for CLCN1 (143013219 - 143049176 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CLCN1: --
Human Gene Mutation Database (HGMD): CLCN1
Locus Specific Mutation Databases (LSDB): CLCN1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CLCN1 |
|
Disorders
/ Diseases
for CLCN1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
CLCN1 for disorders About GeneDecksing
OMIM gene information: 118425
OMIM disorders: 255700 160800
UniProtKB/Swiss-Prot: CLCN1_HUMAN, P35523
Defects in CLCN1 are the cause of myotonia congenita, autosomal dominant (MCD) [MIM:160800]; also known asThomsen disease. It is characterized by skeletal muscle stiffness (delayed relaxation), due to membranehyperexcitability. A variant form of Thomsen disease is myotonia levior that is characterized by milder symptoms,later onset and absence of muscle hypo- and hypertrophy Defects in CLCN1 are the cause of autosomal recessive myotonia congenita (MCR) [MIM:255700]; also known asBecker disease
20/24  diseases for CLCN1 (see all 24): About MalaCardsmyotonia myotonia levior myotonia levior, recessive myotonia congenita, dominant
myotonia congenita, recessive myotonia congenita autosomal recessive muscle disorders myotonic dystrophy
endomyocardial fibrosis myotonic dystrophy type 2 myotonic dystrophy type 1 thomsen disease
kennedy's disease bartter disease dent disease hearing loss
muscular dystrophy nephrocalcinosis osteopetrosis hypogonadism
5 diseases from the University of Copenhagen DISEASES database for CLCN1:Thomsen disease Endomyocardial fibrosis Myotonic dystrophy Hypokalemic periodic paralysis
Hyperkalemic periodic paralysis 8 Novoseek disease relationships for CLCN1 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| myotonia congenita |
98.6 |
60 |
15116370 (4), 15162127 (3), 8857733 (3), 20399394 (3) (see all 36) |
| myotonia generalized becker |
95.4 |
2 |
7951242 (1), 7951215 (1) |
| myotonic disorders |
91.7 |
3 |
9196902 (1), 7951242 (1), 11113225 (1) |
| promm |
82.6 |
2 |
9576553 (1), 14742629 (1) |
| myotonic dystrophy |
79 |
4 |
18807109 (3), 17215330 (1) |
| endomyocardial fibrosis |
76.3 |
4 |
17717708 (1), 18624224 (1), 10215406 (1), 11113225 (1) |
| myopathy |
57.5 |
1 |
10720929 (1) |
| hypertrophy |
47.7 |
1 |
11840191 (1) |
GeneTests: CLCN1
Myotonia Congenita
Genetic Association Database (GAD): CLCN1
Human Genome Epidemiology (HuGE) Navigator: CLCN1 (7 documents)
Export disorders for CLCN1 gene to outside databases
|
Publications
for CLCN1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for CLCN1 gene, integrated from 9 sources (see all 141):
(articles sorted by number of sources associating them with CLCN1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- The skeletal muscle chloride channel in dominant and recessive human myotonia. (PubMed id 1379744)1, 2, 3, 9 Koch M.C.... Jentsch T.J. (1992)
- Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance. (PubMed id 9566422)1, 2, 9 Plassart-Schiess E.... Fontaine B. (1998)
- Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. (PubMed id 10215406)1, 2, 9 Sangiuolo F.... Dallapiccola B. (1998)
- Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia. (PubMed id 8533761)1, 2, 9 Meyer-Kleine C.... Koch M.C. (1995)
- Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen). (PubMed id 8112288)1, 2, 9 Steinmeyer K.... Jentsch T.J. (1994)
- Myotonia levior is a chloride channel disorder. (PubMed id 7581380)1, 2, 9 Lehmann-Horn F.... George A.L. Jr. (1995)
- Novel muscle chloride channel mutations and their effects on heterozygous carriers. (PubMed id 8571958)1, 2, 9 Mailaender V.... Lehmann-Horn F. (1996)
- Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia. (PubMed id 7951242)1, 2, 9 Lorenz C.... Jentsch T.J. (1994)
- ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence. (PubMed id 9736777)1, 2 Kubisch C.... Jentsch T.J. (1998)
- Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita. (PubMed id 7874130)1, 2 George A.L. Jr.... Pascuzzi R.M. (1994)
|
External Searches for CLCN1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing CLCN1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing CLCN1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing CLCN1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for CLCN1 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CLCN1 |
|
| | |
About This Section
| Patent Information for CLCN1 gene:
Search GeneIP for patents involving CLCN1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for CLCN1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for CLCN1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CLCN1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CLCN1 | | | OriGene Protein Over-expression Lysate for CLCN1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for CLCN1 | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CLCN1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CLCN1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for CLCN1 | | OriGene Custom Protein Services for CLCN1 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CLCN1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CLCN1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CLCN1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CLCN1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CLCN1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CLCN1 |
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| | | | Search Tocris compounds for CLCN1 |
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 | | | CLCN1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLCN1 |
|  |  |  | | | | Search ThermoFisher Antibodies for CLCN1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CLCN1 |
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