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Aliases for CLCA2 Gene

Aliases for CLCA2 Gene

  • Chloride Channel Accessory 2 2 3 5
  • Chloride Channel, Calcium Activated, Family Member 2 2 3
  • Calcium-Activated Chloride Channel Family Member 2 3 4
  • Calcium-Activated Chloride Channel Protein 3 3 4
  • Chloride Channel Regulator 2 2 3
  • HCaCC-3 3 4
  • CaCC-3 3 4
  • HCLCA2 3 4
  • CACC3 3 4
  • CLCA Family Member 2, Chloride Channel Regulator 3
  • Calcium-Activated Chloride Channel Regulator 2 3
  • Calcium-Activated Chloride Channel-2 3
  • EC 3.4.-.- 4
  • CLCRG2 3
  • CACC 3

External Ids for CLCA2 Gene

Previous GeneCards Identifiers for CLCA2 Gene

  • GC01P087392
  • GC01P086058
  • GC01P086182
  • GC01P086312
  • GC01P086601
  • GC01P086889
  • GC01P085000

Summaries for CLCA2 Gene

Entrez Gene Summary for CLCA2 Gene

  • The protein encoded by this gene belongs to the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same site on chromosome 1p31-p22 and share high degrees of homology in size, sequence and predicted structure, but differ significantly in their tissue distributions. Since this protein is expressed predominantly in trachea and lung, it is suggested to play a role in the complex pathogenesis of cystic fibrosis. It may also serve as adhesion molecule for lung metastatic cancer cells, mediating vascular arrest and colonization, and furthermore, it has been implicated to act as a tumor suppressor gene for breast cancer. [provided by RefSeq, Jul 2008]

GeneCards Summary for CLCA2 Gene

CLCA2 (Chloride Channel Accessory 2) is a Protein Coding gene. Diseases associated with CLCA2 include Bestrophinopathy and Cystic Fibrosis. Among its related pathways are Hepatic ABC Transporters and Ion channel transport. GO annotations related to this gene include metallopeptidase activity and intracellular calcium activated chloride channel activity. An important paralog of this gene is CLCA1.

UniProtKB/Swiss-Prot for CLCA2 Gene

  • Plays a role in modulating chloride current across the plasma membrane in a calcium-dependent manner, and cell adhesion. Involved in basal cell adhesion and/or stratification of squamous epithelia. May act as a tumor suppressor in breast and colorectal cancer. Plays a key role for cell adhesion in the beginning stages of lung metastasis via the binding to ITGB4.

Tocris Summary for CLCA2 Gene

  • Chloride channels are a family of anion-selective channels involved in the regulation of the excitability of neurons, skeletal, cardiac and smooth muscle, cell volume regulation, transepithelial salt transport and the acidification of intra- and extracellular compartments.

Gene Wiki entry for CLCA2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLCA2 Gene

Genomics for CLCA2 Gene

Regulatory Elements for CLCA2 Gene

Enhancers for CLCA2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around CLCA2 on UCSC Golden Path with GeneCards custom track

Genomic Location for CLCA2 Gene

Chromosome:
1
Start:
86,424,086 bp from pter
End:
86,456,558 bp from pter
Size:
32,473 bases
Orientation:
Plus strand

Genomic View for CLCA2 Gene

Genes around CLCA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLCA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLCA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLCA2 Gene

Proteins for CLCA2 Gene

  • Protein details for CLCA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UQC9-CLCA2_HUMAN
    Recommended name:
    Calcium-activated chloride channel regulator 2
    Protein Accession:
    Q9UQC9
    Secondary Accessions:
    • A8K2T3
    • Q9Y6N2

    Protein attributes for CLCA2 Gene

    Size:
    943 amino acids
    Molecular mass:
    103941 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CLCA2 Gene

Post-translational modifications for CLCA2 Gene

  • N-glycosylated.
  • The 141 kDa mature form is autoproteolytically cleaved by the metalloprotease domain, producing a 109 kDa form and a 35 kDa form. The cleavage is necessary for calcium-activated chloride channel (CaCC) activation activity.
  • Glycosylation at Asn 74, Asn 150, Asn 231, Asn 522, and Asn 822
  • Modification sites at PhosphoSitePlus

Other Protein References for CLCA2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CLCA2 Gene

Domains & Families for CLCA2 Gene

Gene Families for CLCA2 Gene

Protein Domains for CLCA2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CLCA2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UQC9

UniProtKB/Swiss-Prot:

CLCA2_HUMAN :
  • The metalloprotease region is responsible for autoproteolytic processing. It can also cross-cleave other CLCA Substrates.
  • Belongs to the CLCR family.
Domain:
  • The metalloprotease region is responsible for autoproteolytic processing. It can also cross-cleave other CLCA Substrates.
  • Contains 1 VWFA domain.
Family:
  • Belongs to the CLCR family.
genes like me logo Genes that share domains with CLCA2: view

Function for CLCA2 Gene

Molecular function for CLCA2 Gene

GENATLAS Biochemistry:
chloride channel Ca2+ activated family member 2,outwardly rectifiying,expressed in lung,trachea,mammary gland,epithelial cells
UniProtKB/Swiss-Prot Function:
Plays a role in modulating chloride current across the plasma membrane in a calcium-dependent manner, and cell adhesion. Involved in basal cell adhesion and/or stratification of squamous epithelia. May act as a tumor suppressor in breast and colorectal cancer. Plays a key role for cell adhesion in the beginning stages of lung metastasis via the binding to ITGB4.
UniProtKB/Swiss-Prot Induction:
Significantly down-regulated in breast and colorectal cancer.

Enzyme Numbers (IUBMB) for CLCA2 Gene

Gene Ontology (GO) - Molecular Function for CLCA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity TAS --
GO:0005229 intracellular calcium activated chloride channel activity IEA --
GO:0005254 chloride channel activity IEA,TAS 10362588
GO:0015276 ligand-gated ion channel activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CLCA2: view
genes like me logo Genes that share phenotypes with CLCA2: view

Animal Models for CLCA2 Gene

MGI Knock Outs for CLCA2:

Animal Model Products

  • Taconic Biosciences Mouse Models for CLCA2

CRISPR Products

miRNA for CLCA2 Gene

miRTarBase miRNAs that target CLCA2

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CLCA2 Gene

Localization for CLCA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLCA2 Gene

Cell membrane; Single-pass type I membrane protein. Basal cell membrane; Single-pass type I membrane protein. Cell junction.
Calcium-activated chloride channel regulator 2, 109 kDa form: Secreted. Note=Remains associated to the 35 kDa form until an unidentified event triggers the release.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CLCA2 Gene COMPARTMENTS Subcellular localization image for CLCA2 gene
Compartment Confidence
extracellular 5
plasma membrane 5
nucleus 4

Gene Ontology (GO) - Cellular Components for CLCA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005634 nucleus IDA --
GO:0005886 plasma membrane IEA,TAS --
GO:0005887 integral component of plasma membrane TAS 10362588
GO:0009925 basal plasma membrane IEA --
genes like me logo Genes that share ontologies with CLCA2: view

Pathways & Interactions for CLCA2 Gene

genes like me logo Genes that share pathways with CLCA2: view

Pathways by source for CLCA2 Gene

Interacting Proteins for CLCA2 Gene

Gene Ontology (GO) - Biological Process for CLCA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006810 transport TAS 10362588
GO:0006821 chloride transport IEA --
GO:0007155 cell adhesion IEA --
GO:0034220 ion transmembrane transport TAS --
genes like me logo Genes that share ontologies with CLCA2: view

No data available for SIGNOR curated interactions for CLCA2 Gene

Drugs & Compounds for CLCA2 Gene

(5) Drugs for CLCA2 Gene - From: ApexBio and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Talniflumate Approved Pharma 0
CaCCinh-A01 Pharma 0
Eact Pharma 0
T16Ainh - A01 Pharma 0
calcium Nutra 0

(3) Additional Compounds for CLCA2 Gene - From: Tocris, Novoseek, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
GlyH 101
328541-79-3

(1) Tocris Compounds for CLCA2 Gene

Compound Action Cas Number
GlyH 101 Reversible, voltage-dependent CFTR chloride channel blocker 328541-79-3

(4) ApexBio Compounds for CLCA2 Gene

Compound Action Cas Number
CaCCinh-A01 407587-33-1
Eact 461000-66-8
T16Ainh - A01 552309-42-9
Talniflumate 66898-62-2
genes like me logo Genes that share compounds with CLCA2: view

Transcripts for CLCA2 Gene

mRNA/cDNA for CLCA2 Gene

Unigene Clusters for CLCA2 Gene

Chloride channel accessory 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CLCA2 Gene

No ASD Table

Relevant External Links for CLCA2 Gene

GeneLoc Exon Structure for
CLCA2
ECgene alternative splicing isoforms for
CLCA2

Expression for CLCA2 Gene

mRNA expression in normal human tissues for CLCA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CLCA2 Gene

This gene is overexpressed in Esophagus - Mucosa (x20.3), Vagina (x7.9), Skin - Not Sun Exposed (Suprapubic) (x7.6), and Skin - Sun Exposed (Lower leg) (x6.7).

Protein differential expression in normal tissues from HIPED for CLCA2 Gene

This gene is overexpressed in Bone (22.1), Skin (16.6), Esophagus (10.2), and Oral epithelium (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CLCA2 Gene



NURSA nuclear receptor signaling pathways regulating expression of CLCA2 Gene:

CLCA2

SOURCE GeneReport for Unigene cluster for CLCA2 Gene:

Hs.241551

mRNA Expression by UniProt/SwissProt for CLCA2 Gene:

Q9UQC9-CLCA2_HUMAN
Tissue specificity: Expressed in cornea, skin, vagina, esophagus, and larynx (at protein level). Expressed in trachea and mammary gland. Weakly expressed in testis and kidney. Highly expressed in corneal epithelium, colon and trachea. Moderately expressed in brain, urogenital organs, bladder, uterus and prostate. Highly expressed in tissues containing stratified epithelium including cornea, esophagus, larynx, skin and vagina than those tissues which contain only epithelial monolayers. Expressed in normal breast epithelium but not in breast cancer. Highly expressed during epithelial stratification. Expressed in endothelial cells of lung. Expressed selectively in endothelia of small pulmonary arteries, arterioles, and subpleural and interlobular venules.
genes like me logo Genes that share expression patterns with CLCA2: view

Primer Products

No data available for Protein tissue co-expression partners for CLCA2 Gene

Orthologs for CLCA2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CLCA2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CLCA2 34
  • 87.5 (n)
  • 83.48 (a)
CLCA2 35
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CLCA2 34
  • 88.87 (n)
  • 84.84 (a)
CLCA2 35
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Clca5 34
  • 78.84 (n)
  • 72.19 (a)
Clca2 16
Clca5 35
  • 72 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CLCA2 34
  • 99.43 (n)
  • 98.94 (a)
CLCA2 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Clca5 34
  • 79.36 (n)
  • 73.69 (a)
oppossum
(Monodelphis domestica)
Mammalia CLCA2 35
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CLCA2 35
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves CLCA2 34
  • 61.99 (n)
  • 52.28 (a)
CLCA2 35
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.15133 34
zebrafish
(Danio rerio)
Actinopterygii si:ch211-116o3.3 35
  • 46 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 28 (a)
ManyToMany
-- 35
  • 32 (a)
ManyToMany
-- 35
  • 24 (a)
ManyToMany
-- 35
  • 37 (a)
ManyToMany
-- 35
  • 27 (a)
ManyToMany
Species where no ortholog for CLCA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CLCA2 Gene

ENSEMBL:
Gene Tree for CLCA2 (if available)
TreeFam:
Gene Tree for CLCA2 (if available)

Paralogs for CLCA2 Gene

Paralogs for CLCA2 Gene

(3) SIMAP similar genes for CLCA2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CLCA2: view

Variants for CLCA2 Gene

Sequence variations from dbSNP and Humsavar for CLCA2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs17409304 - 86,434,689(+) TTGTA(C/G)AGGCT reference, missense
VAR_043149 A breast cancer sample
rs11580625 - 86,425,390(+) GAAGA(A/G)TATTT reference, missense
rs1413426 - 86,443,899(+) CAGTG(A/G)TCCTC reference, missense
rs16908 -- 86,437,124(+) TCATC(C/T)GAAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CLCA2 Gene

Variant ID Type Subtype PubMed ID
esv3582026 CNV gain 25503493
nsv1002541 CNV gain 25217958
nsv1161035 CNV duplication 26073780
nsv521366 CNV loss 19592680
nsv546722 CNV loss 21841781

Variation tolerance for CLCA2 Gene

Residual Variation Intolerance Score: 46% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.91; 91.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CLCA2 Gene

Human Gene Mutation Database (HGMD)
CLCA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CLCA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLCA2 Gene

Disorders for CLCA2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CLCA2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
bestrophinopathy
  • autosomal recessive bestrophinopathy
cystic fibrosis
  • pseudomonas aeruginosa chronic infection by, in cystic fibrosis
breast cancer
  • breast cancer, invasive ductal
- elite association - COSMIC cancer census association via MalaCards
Search CLCA2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CLCA2

Genetic Association Database (GAD)
CLCA2
Human Genome Epidemiology (HuGE) Navigator
CLCA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CLCA2
genes like me logo Genes that share disorders with CLCA2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CLCA2 Gene

Publications for CLCA2 Gene

  1. The quantification of hCLCA2 and colocalisation with integrin beta4 in stratified human epithelia. (PMID: 15707651) Connon C.J. … Kinoshita S. (Acta Histochem. 2005) 3 4 22 65
  2. Identification of three novel members of the calcium-dependent chloride channel (CaCC) family predominantly expressed in the digestive tract and trachea. (PMID: 10437792) Agnel M. … Culouscou J.-M. (FEBS Lett. 1999) 3 4 22 65
  3. Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P. … Inskip P.D. (Cancer Epidemiol. Biomarkers Prev. 2010) 3 46 65
  4. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S. … Kang D. (Hum. Immunol. 2010) 3 46 65
  5. Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study. (PMID: 18950845) Vega A. … Carracedo A. (Gynecol. Oncol. 2009) 3 46 65

Products for CLCA2 Gene

Sources for CLCA2 Gene

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