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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CLCA1 Gene

protein-coding   GIFtS: 61
GCID: GC01P086934

Chloride Channel Accessory 1

(Previous names: chloride channel, calcium activated, family member 1, chloride...)
  See 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)
About This Section

Aliases
Chloride Channel Accessory 11 2     hCaCC-12 3
Chloride Channel Regulator 11 2     CACC2
Chloride Channel, Calcium Activated, Family Member 11 2     CLCRG12
Calcium-Activated Chloride Channel Family Member 12 3     GOB52
Calcium-Activated Chloride Channel Protein 12 3     Calcium-Activated Chloride Channel Regulator 12
CACC12 3     Calcium-Dependent Chloride Channel-12
CaCC-12 3     CLCA Family Member 1, Chloride Channel Regulator2
hCLCA12 3     

External Ids:    HGNC: 20151   Entrez Gene: 11792   Ensembl: ENSG000000164907   OMIM: 6039065   UniProtKB: A8K7I43   

Export aliases for CLCA1 gene to outside databases

Previous GC identifers: GC01P087436 GC01P086103 GC01P086226 GC01P086356 GC01P086646 GC01P085045


(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 CLCA1 Gene:
This gene encodes a member of the calcium sensitive chloride conductance protein family. To date, all members of
this gene family map to the same region on chromosome 1p31-p22 and share a high degree of homology in size,
sequence, and predicted structure, but differ significantly in their tissue distributions. The encoded protein is
expressed as a precursor protein that is processed into two cell-surface-associated subunits, although the site
at which the precursor is cleaved has not been precisely determined. The encoded protein may be involved in
mediating calcium-activated chloride conductance in the intestine. (provided by RefSeq, Jul 2008)

GeneCards Summary for CLCA1 Gene: 
CLCA1 (chloride channel accessory 1) is a protein-coding gene. Diseases associated with CLCA1 include bestrophinopathy, and ileus, and among its related super-pathways are Activation of cAMP-Dependent PKA and Olfactory Signaling Pathway. GO annotations related to this gene include chloride channel activity. An important paralog of this gene is CLCA4.

UniProtKB/Swiss-Prot: CLCA1_HUMAN, A8K7I4
Function: May be involved in mediating calcium-activated chloride conductance. May play critical roles in goblet
cell metaplasia, mucus hypersecretion, cystic fibrosis and AHR. May be involved in the regulation of mucus
production and/or secretion by goblet cells. Involved in the regulation of tissue inflammation in the innate
immune response. May play a role as a tumor suppressor. Induces MUC5AC

summary for CLCA1 Gene:
Chloride channels are a family of anion-selective channels involved in a diverse range of biological
processes including the regulation of the excitability of neurons, skeletal, cardiac and smooth muscle, cell
volume regulation, transepithelial salt transport, the acidification of intra- and extracellular
compartments. Ca2+-activated chloride channels (CaCCs) are widely expressed in both excitable and
non-excitable cells, are activated by intracellular Ca2+, and modulated by CaMKII and calcineurin.

Gene Wiki entry for CLCA1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CLCA1 gene promoter:
         Sox5   MAZR   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   GATA-1   GATA-2   MZF-1   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CLCA1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CLCA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CLCA1


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

Entrez Gene cytogenetic band: 1p22.3   Ensembl cytogenetic band:  1p22.3   HGNC cytogenetic band: 1p22.3

CLCA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CLCA1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P086934:  view genomic region     (about GC identifiers)

Start:
86,934,051 bp from pter      End:
86,965,977 bp from pter
Size:
31,927 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CLCA1_HUMAN, A8K7I4 (See protein sequence)
Recommended Name: Calcium-activated chloride channel regulator 1 precursor  
Size: 914 amino acids; 100226 Da
Subcellular location: Secreted, extracellular space. Cell membrane; Peripheral membrane protein; Extracellular
side. Note=Protein that remains attached to the plasma membrane appeared to be predominantly localized to
microvilli
Secondary accessions: B2RAV5 O95151 Q5TDF4 Q9UNF6 Q9UPC6

Explore the universe of human proteins at neXtProt for CLCA1: NX_A8K7I4

Explore proteomics data for CLCA1 at MOPED 

Post-translational modifications:

  • UniProtKB: Glycosylated
  • UniProtKB: The 125-kDa product is processed and yields to two cell-surface-associated subunits, a 90-kDa protein and a group
    of 37-to 41-kDa proteins
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_A8K7I4

  • CLCA1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CLCA1 Protein Expression
    REFSEQ proteins: NP_001276.2  
    ENSEMBL proteins: 
     ENSP00000234701   ENSP00000378200  

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    Cloud-Clone Corp. Proteins for CLCA1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IEA--
    GO:0005887integral to plasma membrane TAS9828122
    GO:0016021integral to membrane ----
    GO:0030141secretory granule IEA--

    CLCA1 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for CLCA1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR013642 Cl_channel_Ca
     IPR004727 CaCC_prot
     IPR015394 DUF1973
     IPR002035 VWF_A

    Graphical View of Domain Structure for InterPro Entry A8K7I4

    ProtoNet protein and cluster: A8K7I4

    UniProtKB/Swiss-Prot: CLCA1_HUMAN, A8K7I4
    Similarity: Belongs to the CLCR family
    Similarity: Contains 1 VWFA domain


    CLCA1 for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CLCA1_HUMAN, A8K7I4
    Function: May be involved in mediating calcium-activated chloride conductance. May play critical roles in goblet
    cell metaplasia, mucus hypersecretion, cystic fibrosis and AHR. May be involved in the regulation of mucus
    production and/or secretion by goblet cells. Involved in the regulation of tissue inflammation in the innate
    immune response. May play a role as a tumor suppressor. Induces MUC5AC
    Induction: By IL13/interleukin-13 in tracheobronchial epithelial cells. Up-regulated by histamine in a
    dose-dependent manner. Significantly down-regulated in colorectal cancer. Significantly up-regulated in the
    IL9-responsive mucus-producing epithelium of asthmatic patients. Significantly decreased in nasal polyp.
    Significantly increased by TNF in upper airway mucosa

         Genatlas biochemistry entry for CLCA1:
    chloride channel Ca2+ activated families member 1,outwardly rectifying,exclusively expressed in intestinal basal
    crypt,epithelia and goblet cells

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005254chloride channel activity TAS9828122
    GO:0005515protein binding ----
         
    CLCA1 for ontologies           About GeneDecksing


    Animal Models:
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CLCA1 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    PKA Signaling0.56
    cAMP Pathway0.77
    2Olfactory transduction
    Olfactory transduction0.81
    3Hepatic ABC Transporters
    Hepatic ABC Transporters0.41
    4Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Cholera Infection0.40
    5Pancreatic secretion
    Pancreatic secretion

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CLCA1
        Cholera Infection
    Hepatic ABC Transporters
    PKA Signaling
    cAMP Pathway
    Activation of cAMP-Dependent PKA

    1 BioSystems Pathway for CLCA1
        Alpha6-Beta4 Integrin Signaling Pathway


    2         Kegg Pathways  (Kegg details for CLCA1):
        Olfactory transduction
    Pancreatic secretion


    CLCA1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CLCA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5/6 Interacting proteins for CLCA1 (A8K7I43 ENSP000002347014) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CFTRP135693, ENSP000000030844I2D: score=1 STRING: ENSP00000003084
    ITGB4P161443, ENSP000002001814I2D: score=1 STRING: ENSP00000200181
    KCNMB1Q165583, ENSP000002746294I2D: score=2 STRING: ENSP00000274629
    GRB2P629933I2D: score=2 
    CNGA3ENSP000002726024STRING: ENSP00000272602
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS9828122
    GO:0006816calcium ion transport IEA--
    GO:0006821chloride transport TAS9828122

    CLCA1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CLCA1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for CLCA1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    DCPIB Selective blocker of VSAC/ICl, swell. Inhibits glucose-stimulated insulin release [82749-70-0]
    Chromanol 293BIKs blocker. Also blocks ICFTR[163163-23-3]
    NPPBInhibits calcium-sensitive chloride currents[107254-86-4]
    LonidamineMitochondrial hexokinase inhibitor[50264-69-2]
    CFTRinh 172 Voltage-independent, selective CFTR chloride channel blocker [307510-92-5]

    2 HMDB Compounds for CLCA1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    ChlorineCl2 (see all 13)16887-00-6--

    6 Novoseek inferred chemical compound relationships for CLCA1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    chloride 80.7 30 17426222 (2), 17637221 (2), 17698377 (2), 19307298 (2) (see all 22)
    niflumic acid 77.9 3 17426222 (2)
    h2dids 76.5 1 10981514 (1)
    dids 69.1 2 16809466 (1), 18640110 (1)
    atp 27.5 2 18586953 (1), 18083779 (1)
    calcium 26.9 15 18083779 (2), 18640110 (2), 18586953 (1), 20095232 (1) (see all 7)

    Search CenterWatch for drugs/clinical trials and news about CLCA1

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CLCA1 gene: 
    NM_001285.3  

    Unigene Cluster for CLCA1:

    Chloride channel accessory 1
    Hs.194659  [show with all ESTs]
    Unigene Representative Sequence: AF039400
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000234701(uc001dls.1 uc001dlt.3) ENST00000394711
    miRNA
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    Additional mRNA sequence: 

    AF039400.1 AF127036.1 AK024970.1 AK097057.1 AK291999.1 AK300858.1 AK314375.1 

    4 DOTS entries:

    DT.429041  DT.100010086  DT.92419837  DT.121411591 

    24/48 AceView cDNA sequences (see all 48):

    AI802693 AA508854 BP383013 AW009763 BF083321 AF127036 BP383054 BP383201 
    AA297150 AK024970 AF039400 BG195179 AA581198 BP382843 AK097057 NM_001285 
    BM986862 BF083270 AI660234 AI660957 BX480459 AW009764 BP383069 BP382855 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for CLCA1    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15
    SP1:                                                                          -                                                   
    SP2:                          -     -                                                                                             
    SP3:                                                                                      -                                       


    ECgene alternative splicing isoforms for CLCA1

    (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

    CLCA1 expression in normal human tissues (normalized intensities)      CLCA1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAACAGCTCA
    CLCA1 Expression
    About this image


    CLCA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/8 selected tissues (see all 8) fully expand
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 5 entries
             small intestine ; glandular cells   
             small intestine   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             rectum ; glandular cells   
             colonic mucosal (ibs)   
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Cardiac Fibroblasts Myocardium
             Dorsal Aorta
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Testicular Interstitial Cells Testis Interstitium
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             visceral organ   

    See CLCA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CLCA1

    SOURCE GeneReport for Unigene cluster: Hs.194659

    UniProtKB/Swiss-Prot: CLCA1_HUMAN, A8K7I4
    Tissue specificity: Highly expressed in small intestine and colon namely in intestinal basal crypt epithelia and
    goblet cells, and appendix. Weakly expressed in uterus, testis and kidney. Expressed in the airways epithelium of
    both asthmatic and healthy patients. Expressed in the bronchial epithelium, especially in mucus-producing goblet
    cells. Expressed in normal turbinate mucosa and nasal polyp. Expressed in

        SABiosciences Expression via Pathway-Focused PCR Array including CLCA1: 
              Allergy & Asthma in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLCA1

    (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 common ancestor of chordates.

    Orthologs for CLCA1 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Clca15
    Clca31
    chloride channel calcium activated 15
    chloride channel calcium activated 31
    78.41(n)1
    76.21(a)1
      3 (69.06 cM)5
    238441  NM_017474.21  NP_059502.11 
     1447296775 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    45(a)
    1 → many
    8(14894638-14910177)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 9)
    --
    49(a)
    47(a)
    (see all 9)
    many ↔ many
    many ↔ many
    (see all 9)
    4(97534009-97558801)
    4(97507032-97528552)
    zebrafish
    (Danio rerio)
    Actinopterygii CR925813.16
    BX927244.26
    (see all 3)
    Uncharacterized protein
    (see all 3)
    40(a)
    39(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    15(14024896-14027779)
    15(14174249-14179134)


    ENSEMBL Gene Tree for CLCA1 (if available)
    TreeFam Gene Tree for CLCA1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CLCA1 gene
    CLCA42  CLCA22  
    2 SIMAP similar genes for CLCA1 using alignment to 1 protein entry:     CLCA1_HUMAN:
    CLCA4    CLCA2

    CLCA1 for paralogs           About GeneDecksing



    (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) 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

    10/940 SNPs in CLCA1 are shown (see all 940)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0546544
    ----see VAR_0546542 L F mis40--------
    rs30294031,2
    C--85062354(+) GAGAG-/AG/AGAGAG
    /AGAGAGAGAG
    TGCGC
    2 -- int1 cds10--------
    rs1864396301,2
    --86932526(+) CCGGGC/GACTCA 1 -- us2k10--------
    rs1908478361,2
    --86932535(+) CAGTCA/GTTTGC 1 -- us2k10--------
    rs42516861,2
    H--86932559(+) CTATCC/TACTCC 1 -- us2k16Minor allele frequency- T:0.00NS EA 1032
    rs1830005141,2
    --86932705(+) GTCTGC/GGGGGA 1 -- us2k10--------
    rs46478421,2
    F--86932719(+) GATCAC/TCTGTA 1 -- us2k12Minor allele frequency- T:0.01NS 612
    rs46478441,2
    C,F--86932730(+) GAAGAT/AGAGAA 1 -- us2k17Minor allele frequency- A:0.05NS NA EU CSA WA 818
    rs1872914321,2
    --86932783(+) AAGGCA/GTGGTT 1 -- us2k10--------
    rs57442971,2
    C,F,H--86932933(+) ATTCCC/GTCATT 1 -- us2k127Minor allele frequency- G:0.02NA EU NS EA MN 2694

    HapMap Linkage Disequilibrium report for CLCA1 (86934051 - 86965977 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CLCA1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2714396CNV Deletion23290073


    Human Gene Mutation Database (HGMD): CLCA1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CLCA1
    DNA2.0 Custom Variant and Variant Library Synthesis for CLCA1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603906    OMIM disorders: --

    17 diseases for CLCA1:    About MalaCards
    bestrophinopathy    ileus    cystic fibrosis    bronchitis
    chronic obstructive pulmonary disease    allergic rhinitis    rhinitis    sinusitis
    asthma    meningioma    cholera    hypoxia
    colorectal cancer    pancreatitis    endotheliitis    leukemia
    hepatitis

    2 diseases from the University of Copenhagen DISEASES database for CLCA1:
    Cystic fibrosis     Asthma

    CLCA1 for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for CLCA1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cystic fibrosis 66.4 8 10072771 (1), 18805094 (1), 12198094 (1), 15763242 (1) (see all 8)
    asthma 36.1 5 18597857 (1), 17898169 (1), 15345696 (1), 16364194 (1) (see all 5)
    pulmonary disease chronic obstructive 34.3 2 18597857 (1), 17637221 (1)
    inflammation 13.9 3 20095232 (1), 16364194 (1)
    tumors 0 6 11445004 (4), 17073633 (1)

    Genetic Association Database (GAD): CLCA1
    Human Genome Epidemiology (HuGE) Navigator: CLCA1 (10 documents)

    Export disorders for CLCA1 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)
    About This Section

    PubMed articles for CLCA1 gene, integrated from 9 sources (see all 77):
    (articles sorted by number of sources associating them with CLCA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic cloning, molecular characterization, and functional analysis of human CLCA1, the first human member of the family of Ca2+-activated Cl- channel proteins. (PubMed id 9828122)1, 2, 3 Gruber A.D....Pauli B.U. (1998)
    2. Association of the hCLCA1 gene with childhood and adult asthma. (PubMed id 15318163)1, 4, 9 Kamada F....Matsubara Y. (2004)
    3. Risk of meningioma and common variation in genes rela ted to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (2010)
    4. Polymorphisms in innate immunity genes and risk of ch ildhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (2010)
    5. Association of the CLCA1 p.S357N variant with meconiu m ileus in European patients with cystic fibrosis. (PubMed id 20179644)1, 4 van der Doef H.P....Houwen R.H. (2010)
    6. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    7. Sequential use of transcriptional profiling, expressi on quantitative trait mapping, and gene association implicates MMP20 in human k idney aging. (PubMed id 19834535)1, 4 Wheeler H.E....Kim S.K. (2009)
    8. hCLCA1 and mCLCA3 are secreted non-integral membrane proteins and therefore are not ion channels. (PubMed id 15919655)1, 2 Gibson A....Thompson N. (2005)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. A calcium-activated chloride channel (HCLCA1) is strongly related to IL-9 expression and mucus production in bronchial epithelium of patients with asthma. (PubMed id 11842292)1, 2 Toda M.... Hamid Q. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1179 HGNC: 2015 AceView: CLCA1 Ensembl:ENSG00000016490 euGenes: HUgn1179
    ECgene: CLCA1 Kegg: 1179 H-InvDB: CLCA1

    (According to HUGE)
    About This Section
      --

    (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
    NameDescription
    PharmGKB entry for CLCA1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CLCA1 gene:
    Search GeneIP for patents involving CLCA1

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



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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