Human Gene CLCA2 (ENST00000370565.5_4) from GENCODE V47lift37
  Description: chloride channel accessory 2 (from RefSeq NM_006536.7)
Gencode Transcript: ENST00000370565.5_4
Gencode Gene: ENSG00000137975.8_7
Transcript (Including UTRs)
   Position: hg19 chr1:86,889,854-86,922,236 Size: 32,383 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg19 chr1:86,889,931-86,921,210 Size: 31,280 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:86,889,854-86,922,236)mRNA (may differ from genome)Protein (943 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCHuman Cortex Gene ExpressionMalacardsMGIOMIMPubMed
ReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CLCA2_HUMAN
DESCRIPTION: RecName: Full=Calcium-activated chloride channel regulator 2; AltName: Full=Calcium-activated chloride channel family member 2; Short=hCLCA2; AltName: Full=Calcium-activated chloride channel protein 3; Short=CaCC-3; Short=hCaCC-3; Contains: RecName: Full=Calcium-activated chloride channel regulator 2, 109 kDa form; Contains: RecName: Full=Calcium-activated chloride channel regulator 2, 35 kDa form; Flags: Precursor;
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.
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Basal cell membrane; Single-pass type I membrane protein. Cell junction.
SUBCELLULAR LOCATION: 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.
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.
INDUCTION: Significantly down-regulated in breast and colorectal cancer.
PTM: The 141 kDa mature form is shedded, producing a 109 kDa form and a 35 kDa form.
PTM: N-glycosylated.
SIMILARITY: Belongs to the CLCR family.
SIMILARITY: Contains 1 VWFA domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CLCA2
Diseases sorted by gene-association score: bestrophinopathy (9), breast cancer (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 71.60 RPKM in Esophagus - Mucosa
Total median expression: 172.40 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -18.3077-0.238 Picture PostScript Text
3' UTR -225.901026-0.220 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004727 - CaCC_prot
IPR013642 - Cl_channel_Ca
IPR015394 - DUF1973
IPR002035 - VWF_A

Pfam Domains:
PF08434 - Calcium-activated chloride channel N terminal

SCOP Domains:
49265 - Fibronectin type III
88633 - Positive stranded ssRNA viruses
50974 - Nitrous oxide reductase, N-terminal domain
52833 - Thioredoxin-like
53300 - vWA-like

ModBase Predicted Comparative 3D Structure on Q9UQC9
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004222 metalloendopeptidase activity
GO:0005229 intracellular calcium activated chloride channel activity
GO:0005254 chloride channel activity
GO:0008233 peptidase activity
GO:0008237 metallopeptidase activity
GO:0015276 ligand-gated ion channel activity
GO:0016787 hydrolase activity
GO:0046872 metal ion binding

Biological Process:
GO:0006508 proteolysis
GO:0006811 ion transport
GO:0006821 chloride transport
GO:0007155 cell adhesion
GO:0034220 ion transmembrane transport
GO:1902476 chloride transmembrane transport

Cellular Component:
GO:0005576 extracellular region
GO:0005634 nucleus
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0009925 basal plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0031965 nuclear membrane


-  Descriptions from all associated GenBank mRNAs
  AF043977 - Homo sapiens calcium-activated chloride channel-2 (hCLCA2) mRNA, complete cds.
AK290348 - Homo sapiens cDNA FLJ75628 complete cds, highly similar to Homo sapiens chloride channel, calcium activated, family member 2 (CLCA2), mRNA.
AK307937 - Homo sapiens cDNA, FLJ97885.
BC041096 - Homo sapiens chloride channel accessory 2, mRNA (cDNA clone MGC:46036 IMAGE:5752653), complete cds.
AB026833 - Homo sapiens mRNA for chloride channel protein, complete cds.
KJ892822 - Synthetic construct Homo sapiens clone ccsbBroadEn_02216 CLCA2 gene, encodes complete protein.
KR711013 - Synthetic construct Homo sapiens clone CCSBHm_00018963 CLCA2 (CLCA2) mRNA, encodes complete protein.
AF127980 - Homo sapiens calcium-activated chloride channel protein 3 (CaCC3) mRNA, complete cds.
AK296719 - Homo sapiens cDNA FLJ57387 complete cds, highly similar to Homo sapiens chloride channel, calcium activated, family member 2 (CLCA2), mRNA.
JD049896 - Sequence 30920 from Patent EP1572962.
JD239261 - Sequence 220285 from Patent EP1572962.
JD167335 - Sequence 148359 from Patent EP1572962.
JD510768 - Sequence 491792 from Patent EP1572962.
JD244430 - Sequence 225454 from Patent EP1572962.
JD038370 - Sequence 19394 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9UQC9 (Reactome details) participates in the following event(s):

R-HSA-5333671 CLCAs self cleave
R-HSA-2672351 Stimuli-sensing channels
R-HSA-983712 Ion channel transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: A8K2T3, CACC3, CLCA2_HUMAN, ENST00000370565.1, ENST00000370565.2, ENST00000370565.3, ENST00000370565.4, NM_006536, Q9UQC9, Q9Y6N2, uc318ima.1, uc318ima.2
UCSC ID: ENST00000370565.5_4
RefSeq Accession: NM_006536.7
Protein: Q9UQC9 (aka CLCA2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.