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CLCNKA Gene

protein-coding   GIFtS: 61
GCID: GC01P016345

Chloride Channel, Voltage-Sensitive Ka

(Previous name: chloride channel Ka)
  See CLCNKA-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Chloride Channel, Voltage-Sensitive Ka1 2     Chloride Channel Protein ClC-Ka2
Chloride Channel Ka1 2 3     Chloride Channel, Kidney, A2
ClC-K12 3     hClC-Ka2
CLCK12     

External Ids:    HGNC: 20261   Entrez Gene: 11872   Ensembl: ENSG000001865107   OMIM: 6020245   UniProtKB: P518003   

Export aliases for CLCNKA gene to outside databases

Previous GC identifers: GC01U990022 GC01P9E0033 GC01P015711 GC01P016094 GC01P016220 GC01P014867


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CLCNKA Gene:
This gene is a member of the CLC family of voltage-gated chloride channels. The encoded protein is predicted to
have 12 transmembrane domains, and requires a beta subunit called barttin to form a functional channel. It is
thought to function in salt reabsorption in the kidney and potassium recycling in the inner ear. The gene is
highly similar to CLCNKB, which is located 10 kb downstream from this gene. Multiple transcript variants encoding
different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for CLCNKA Gene:
CLCNKA (chloride channel, voltage-sensitive Ka) is a protein-coding gene. Diseases associated with CLCNKA include bartter syndrome, type 4b, digenic, and renal glycosuria. GO annotations related to this gene include adenyl nucleotide binding and voltage-gated chloride channel activity. An important paralog of this gene is CLCN4.

UniProtKB/Swiss-Prot: CLCKA_HUMAN, P51800
Function: Voltage-gated chloride channel. Chloride channels have several functions including the regulation of
cell volume; membrane potential stabilization, signal transduction and transepithelial transport. May be
important in urinary concentrating mechanisms

Gene Wiki entry for CLCNKA 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the CLCNKA gene promoter:
         SRF   USF1   AML1a   SRF (504 AA)   Nkx2-5   E47   PPAR-gamma1   USF-1   PPAR-gamma2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCLCNKA promoter sequence
   Search Chromatin IP Primers for CLCNKA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CLCNKA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36   Ensembl cytogenetic band:  1p36.13   HGNC cytogenetic band: 1p36

CLCNKA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CLCNKA gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P016345:  view genomic region     (about GC identifiers)

Start:
16,345,370 bp from pter      End:
16,360,545 bp from pter
Size:
15,176 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CLCKA_HUMAN, P51800 (See protein sequence)
Recommended Name: Chloride channel protein ClC-Ka  
Size: 687 amino acids; 75285 Da
Subunit: Homodimer. Interacts with BSND. Forms heteromers with BSND in the thin ascending limb of Henle (By
similarity)
1 PDB 3D structure from and Proteopedia for CLCNKA:
2PFI (3D)    
Secondary accessions: B4DPD3 E7EPH6 Q5T5P8 Q5T5Q4 Q7Z6D1 Q86VT1
Alternative splicing: 3 isoforms:  P51800-1   P51800-2   P51800-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CLCNKA: NX_P51800

Explore proteomics data for CLCNKA at MOPED


See CLCNKA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (3 alternative transcripts): 
NP_001036169.1  NP_001244068.1  NP_004061.3  

ENSEMBL proteins: 
 ENSP00000364844   ENSP00000414445   ENSP00000332771   ENSP00000410353  
Reactome Protein details: P51800

CLCNKA Human Recombinant Protein Products:

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
CLCN: Ion channels / Chloride channels : Voltage-sensitive

IUPHAR Guide to PHARMACOLOGY protein family classification: ClC-Ka
ClC family

4 InterPro protein domains:
 IPR014743 Cl-channel_core
 IPR000644 CBS_dom
 IPR002250 Cl_channel-K
 IPR001807 Cl-channel_volt-gated

Graphical View of Domain Structure for InterPro Entry P51800

ProtoNet protein and cluster: P51800

3 Blocks protein domains:
IPB000644 CBS domain
IPB001807 Chloride channel signature
IPB002250 CLC-K chloride channel family signature


UniProtKB/Swiss-Prot: CLCKA_HUMAN, P51800
Similarity: Belongs to the chloride channel (TC 2.A.49) family. CLCNKA subfamily
Similarity: Contains 2 CBS domains


Find genes that share domains with CLCNKA           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: CLCKA_HUMAN, P51800
Function: Voltage-gated chloride channel. Chloride channels have several functions including the regulation of
cell volume; membrane potential stabilization, signal transduction and transepithelial transport. May be
important in urinary concentrating mechanisms

     Genatlas biochemistry entry for CLCNKA:
chloride voltage-gated channel A,kidney specific,highly expressed in the thin ascending limb of Henle
loop,involved in the concentration function,putative candidate gene for nephrogenic diabetes insipidus,as in
mice;tightly linked to CLCNKB (11kb apart)

     Gene Ontology (GO): 3 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005216ion channel activity ----
GO:0005247voltage-gated chloride channel activity IEA--
GO:0030554adenyl nucleotide binding IEA--
     
Find genes that share ontologies with CLCNKA           About GenesLikeMe


Phenotypes:
     2 GenomeRNAi human phenotypes for CLCNKA:
 Upregulation of Wnt/beta-caten  Wnt reporter upregulated 

     2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Clcnka):
 homeostasis/metabolism  renal/urinary system 

Find genes that share phenotypes with CLCNKA           About GenesLikeMe

Animal Models:
     MGI mouse knock-out Clcnkatm1Suc for CLCNKA

   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CLCNKA
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   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CLCNKA

miRNA
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hsa-miR-3652
SwitchGear 3'UTR luciferase reporter plasmidCLCNKA 3' UTR sequence
Inhib. RNA
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GenScript: all cDNA clones in your preferred vector (see all 2): CLCNKA (NM_004070)
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
CLCKA_HUMAN, P51800: Membrane; Multi-pass membrane protein
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
plasma membrane4

Gene Ontology (GO): 4 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005886plasma membrane TAS--
GO:0005887integral component of plasma membrane TAS8041726
GO:0016020membrane ----
GO:0034707chloride channel complex IEA--

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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for CLCNKA About    
See pathways by source

SuperPathContained pathways About
1Ion channel transport
Ion channel transport0.58
Stimuli-sensing channels0.58
2Activation of cAMP-Dependent PKA
Activation of cAMP-Dependent PKA0.77
3Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
Transmembrane transport of small molecules0.47
4Hepatic ABC Transporters
Hepatic ABC Transporters0.41
5Diuretics Pathway, Pharmacodynamics
Diuretics Pathway, Pharmacodynamics


Find genes that share SuperPaths with CLCNKA           About GenesLikeMe

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CLCNKA
    Hepatic ABC Transporters
Activation of cAMP-Dependent PKA

1 Reactome Pathway for CLCNKA
    Stimuli-sensing channels

1 PharmGKB Pathway for CLCNKA
    Diuretics Pathway, Pharmacodynamics

    Pathway & Disease-focused RT2 Profiler PCR Array including CLCNKA: 
          Neurotoxicity in human mouse rat

Interactions:

    GeneGlobe Interaction Network for CLCNKA

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for CLCNKA (ENSP000003327714) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
ASNA1ENSP000003498874STRING: ENSP00000349887
About this table

Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006810transport TAS8041726
GO:0006821chloride transport ----
GO:0007588excretion TAS8041726
GO:0034220ion transmembrane transport TAS--
GO:0044070regulation of anion transport TAS8041726

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for CLCNKA (CLCKA)

1 HMDB Compound for CLCNKA    About this table
CompoundSynonyms CAS #PubMed Ids
ChlorineCl2 (see all 13)16887-00-6--

1 DrugBank Compound for CLCNKA    About this table
CompoundSynonyms CAS #TypeActionsPubMed Ids
Niflumic Acid2-(3-(Trifluoromethyl)-phenyl)aminonicotinic acid (see all 13)4394-00-7targetinducer17659402

3 IUPHAR Ligands for CLCNKA (ClC-Ka)    About this table
LigandTypeActionAffinityPubmed IDs
DIDS
Channel blockerNone--
3-phenyl-CPP
Channel blockerNone--
niflumic acid
Channel blockerNone--

6 Novoseek inferred chemical compound relationships for CLCNKA gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
chloride 75.7 9 8904221 (2), 16713495 (1), 10982849 (1), 10373326 (1) (see all 8)
magnesium 34.3 2 16713495 (1), 16093448 (1)
potassium 25.7 2 16713495 (1), 16093448 (1)
sodium 23.1 2 16713495 (1), 16093448 (1)
nacl 18.3 1 17510212 (1)
calcium 0 2 16713495 (1), 16093448 (1)



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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for CLCNKA gene (3 alternative transcripts): 
NM_001042704.1  NM_001257139.1  NM_004070.3  

Unigene Cluster for CLCNKA:

Chloride channel, voltage-sensitive Ka
Hs.591533  [show with all ESTs]
Unigene Representative Sequence: BC053869
8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000464764(uc010obx.1 uc010oby.1 uc001axt.3 uc010obw.2)
ENST00000477360 ENST00000375692(uc001axu.3 uc001axv.3) ENST00000495784
ENST00000439316 ENST00000331433 ENST00000491433 ENST00000420078
miRNA
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1 qRT-PCR Assays for microRNA that regulate CLCNKA:
hsa-miR-3652
SwitchGear 3'UTR luciferase reporter plasmidCLCNKA 3' UTR sequence
Inhib. RNA
Products:
     
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Predesigned siRNA for gene silencing in human, mouse, rat CLCNKA
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GenScript: all cDNA clones in your preferred vector (see all 2): CLCNKA (NM_004070)
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CLCNKA
Primer
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  QuantiTect SYBR Green Assays in human, mouse, rat CLCNKA
  QuantiFast Probe-based Assays in human, mouse, rat CLCNKA

Additional mRNA sequence: 

AK225550.1 AK290814.1 AK293476.1 AK293586.1 AK298285.1 BC048282.1 BC053869.1 Z30643.1 

8 DOTS entries:

DT.121415080  DT.87046280  DT.121415074  DT.95250811  DT.40211485  DT.75142865  DT.100018253  DT.445581 

Selected AceView cDNA sequences (see all 46):

AA322786 BC048282 BC053869 NM_004070 CD513734 BC035373 BM924114 BV206476 
BI829444 BF445204 BV206474 BV206475 Z30643 BI761758 BI519982 AA399181 
AU141678 AA292280 AL035950 AA931972 BV206477 BV206479 BV206478 AA890541 

GeneLoc Exon Structure


(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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CLCNKA expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AACCACAGCA
CLCNKA Expression
About this image


CLCNKA expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 2) fully expand
 
 Kidney (Urinary System)
         Loop of Henle Cells Loop of Henle
 
 Epithelial Cells
         Loop of Henle Cells Loop of Henle
CLCNKA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

CLCNKA Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.591533

UniProtKB/Swiss-Prot: CLCKA_HUMAN, P51800
Tissue specificity: Expressed predominantly in the kidney. All nephron segments expressing BSND also express CLCNK
proteins

    Pathway & Disease-focused RT2 Profiler PCR Array including CLCNKA: 
          Neurotoxicity in human mouse rat

Primer
Products:
OriGene qPCR primer pairs and template standards for CLCNKA
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QuantiFast Probe-based Assays in human, mouse, rat CLCNKA
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLCNKA

(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)
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This gene was present in the common ancestor of animals.

Orthologs for CLCNKA gene from Selected species (see all 14)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Clcnka5
Clcnkb1
chloride channel Ka5
chloride channel Kb1
82.12(n)1
81.2(a)1
  4 (73.94 cM)5
563651  NM_019701.21  NP_062675.21 
 1413846105 
chicken
(Gallus gallus)
Aves --
Uncharacterized protein
61(a)
1 → many
21(4312361-4316769)
lizard
(Anolis carolinensis)
Reptilia --
Uncharacterized protein
62(a)
1 → many
GL343609.1(355909-382911)
African clawed frog
(Xenopus laevis)
Amphibia clcnka-A2 chloride channel Ka 75.92(n)    AJ011385.1 
zebrafish
(Danio rerio)
Actinopterygii clcnk6
chloride channel K
42(a)
1 → many
23(24559404-24578810) ENSDARG00000022560
fruit fly
(Drosophila melanogaster)
Insecta ClC-a6
Chloride channel-a
23(a)
1 → many
3R(7622966-7638929)
worm
(Caenorhabditis elegans)
Secernentea clh-26
clh-36
(see all 4)
Protein CLH-3, isoform b
(see all 4)
25(a)
25(a)
(see all 4)
many ↔ many
many ↔ many
(see all 4)
II(11358447-11370312) WBGene00000529
II(7217955-7225648) WBGene00000530


ENSEMBL Gene Tree for CLCNKA (if available)
TreeFam Gene Tree for CLCNKA (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for CLCNKA gene
CLCN42  CLCN62  CLCNKB2  CLCN52  CLCN12  CLCN72  CLCN32  CLCN22  
3 SIMAP similar genes for CLCNKA using alignment to 1 protein entry:     CLCKA_HUMAN:
CLCNKB    CLCN2    CLCN1

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(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for CLCNKA (see all 931)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0630744
Bartter syndrome 4B (BS4B)4--see VAR_0630742 W C mis40--------
rs1834192421,2
--14865453(+) TTACCC/TACCCC 1 -- us2k10--------
rs1432391371,2
--14865494(+) CTTCCC/TGAGGC 1 -- us2k10--------
rs1879569081,2
--14865508(+) ACCCAA/CACAAA 1 -- us2k10--------
rs37543231,2
C,F,H--14865517(-) GATCCA/CGTATT 1 -- us2k116Minor allele frequency- C:0.11NS EA NA 1938
rs575538481,2
C--14866652(+) CAGGT-/GCTTGT 1 -- us2k10--------
rs570012751,2
C--14866653(+) AGGTGA/CTTGTT 1 -- us2k10--------
rs1124846471,2
C,F--14879449(+) CCTCAA/GAGAAA 4 -- int1 ds50011Minor allele frequency- G:0.11NA 120
rs1123316941,2
C--14879454(+) AAGAAA/CCTTGA 4 -- int1 ds50010--------
rs1131526381,2
C--14879477(+) GGAGCC/TGCAAG 4 -- int1 ds50010--------

HapMap Linkage Disequilibrium report for CLCNKA (16345370 - 16360545 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for CLCNKA (see all 24):    About this table    
Variant IDTypeSubtypePubMed ID
esv2744364CNV Deletion23290073
esv2665318CNV Deletion23128226
esv2674711CNV Deletion23128226
nsv508936CNV Insertion20534489
dgv176n71CNV Loss21882294
nsv870526CNV Loss21882294
nsv871695CNV Loss21882294
nsv524045CNV Loss19592680
dgv174n71CNV Loss21882294
dgv12n27CNV Loss19166990

Human Gene Mutation Database (HGMD): CLCNKA
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing CLCNKA
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 602024   
OMIM disorders: 613090  
UniProtKB/Swiss-Prot: CLCKA_HUMAN, P51800
  • Bartter syndrome 4B (BS4B) [MIM:613090]: A digenic, recessive disorder characterized by impaired salt
    reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis,
    and varying degrees of hypercalciuria. Bartter syndrome type 4B is associated with sensorineural deafness.
    Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this
    entry. Loss-of-function of both CLCNKA and CLCNKB results in the disease phenotype (PubMed:18310267)

  • 6 diseases for CLCNKA:    
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    bartter syndrome, type 4b, digenic    renal glycosuria    bartter syndrome type 4a    diabetes insipidus
    bartter disease    nephrogenic diabetes insipidus

    3 diseases from the University of Copenhagen DISEASES database for CLCNKA:
    Bartter disease     Nephrogenic diabetes insipidus     Renal glycosuria

    Find genes that share disorders with CLCNKA           About GenesLikeMe

    Genetic Association Database (GAD): CLCNKA
    Human Genome Epidemiology (HuGE) Navigator: CLCNKA (6 documents)

    Export disorders for CLCNKA gene to outside databases

    (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)
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    PubMed articles for CLCNKA gene, integrated from 10 sources (see all 36):
    (articles sorted by number of sources associating them with CLCNKA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Common genetic variants and haplotypes in renal CLCNKA gene are associated to salt-sensitive hypertension. (PubMed id 17510212)1, 4, 9 Barlassina C....Cusi D. (Hum. Mol. Genet. 2007)
    2. Haplotype diversity in four genes (CLCNKA, CLCNKB, BSND, NEDD4L) involved in renal salt reabsorption. (PubMed id 17652939)1, 4, 9 Sile S....Williams S.M. (Hum. Hered. 2008)
    3. Two highly homologous members of the ClC chloride channel family in both rat and human kidney. (PubMed id 8041726)1, 2, 9 Kieferle S.... Jentsch T. (Proc. Natl. Acad. Sci. U.S.A. 1994)
    4. Cloning, tissue distribution, and intrarenal localization of ClC chloride channels in human kidney. (PubMed id 8544406)1, 3, 9 Takeuchi Y.... Sasaki S. (Kidney Int. 1995)
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    6. The structure of the cytoplasmic domain of the chloride channel ClC- Ka reveals a conserved interaction interface. (PubMed id 17562318)1, 2 Markovic S. and Dutzler R. (Structure 2007)
    7. Salt wasting and deafness resulting from mutations in two chloride channels. (PubMed id 15044642)1, 2 Schlingmann K.P.... Waldegger S. (N. Engl. J. Med. 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. (PubMed id 11734858)1, 2 Estevez R.... Jentsch T.J. (Nature 2001)
    10. Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness. (PubMed id 18310267)2, 9 Nozu K.... Matsuo M. (J. Med. Genet. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1187 HGNC: 2026 AceView: CLCNKA Ensembl:ENSG00000186510 euGenes: HUgn1187
    ECgene: CLCNKA H-InvDB: CLCNKA

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CLCNKA Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CLCNKA Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for CLCNKA gene:
    Search GeneIP for patents involving CLCNKA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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