CLCA1 Gene (Protein Coding)

Chloride Channel Accessory 1

GC01P086468
GIFtS:
40
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 proc... See more...

Aliases for CLCA1 Gene

Aliases for CLCA1 Gene

  • Chloride Channel Accessory 1 2 3 5
  • Chloride Channel, Calcium Activated, Family Member 1 2 3
  • Calcium-Activated Chloride Channel Family Member 1 3 4
  • Calcium-Activated Chloride Channel Regulator 1 3 4
  • Calcium-Activated Chloride Channel Protein 1 3 4
  • Chloride Channel Regulator 1 2 3
  • HCaCC-1 3 4
  • CLCRG1 2 3
  • CaCC-1 3 4
  • HCLCA1 3 4
  • CACC1 3 4
  • CLCA Family Member 1, Chloride Channel Regulator 3
  • Calcium-Dependent Chloride Channel-1 3
  • EC 3.4.-.- 4
  • CLCA1 5
  • CACC 3
  • GOB5 3
  • CaCC 2

External Ids for CLCA1 Gene

Previous GeneCards Identifiers for CLCA1 Gene

  • GC01P087436
  • GC01P086103
  • GC01P086226
  • GC01P086356
  • GC01P086646
  • GC01P086934
  • GC01P085045

Summaries for CLCA1 Gene

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 Cystic Fibrosis and Pontocerebellar Hypoplasia, Type 9. Among its related pathways are Activation of cAMP-Dependent PKA and Neuropathic Pain-Signaling in Dorsal Horn Neurons. Gene Ontology (GO) annotations related to this gene include metallopeptidase activity and intracellular calcium activated chloride channel activity. An important paralog of this gene is CLCA4.

UniProtKB/Swiss-Prot Summary for CLCA1 Gene

  • 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.

Tocris 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.

Gene Wiki entry for CLCA1 Gene

Additional gene information for CLCA1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CLCA1 Gene

Genomics for CLCA1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CLCA1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01J086468 Promoter 0.6 EPDnew 600.7 +0.5 540 0.1 GABPA NR2F1 NR2F6 CLCA1 lnc-ODF2L-1 CLCA4
GH01J086466 Enhancer 0.2 Ensembl 600.7 -1.1 -1068 0.6 CLCA1 CLCA2
GH01J086421 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 10.9 -44.7 -44700 4.5 JUND EP300 STAT1 TBP CLCA2 ODF2L CLCA1 LOC100420166
GH01J086428 Enhancer 1 Ensembl ENCODE 11.3 -38.3 -38268 3 CEBPG JUND FOXA1 GABPA ETV6 CEBPA EP300 SCRT2 CEBPB NFE2 ODF2L CLCA2 CLCA1
GH01J086501 Enhancer 0.7 ENCODE 11.2 +34.8 34831 2.5 CTCF TEAD4 ZNF143 REST RAD21 TRIM22 SCRT2 ARID3A RUNX3 BCLAF1 LOC105378827 lnc-ODF2L-1 CLCA2 CLCA1 CLCA4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CLCA1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CLCA1

Top Transcription factor binding sites by QIAGEN in the CLCA1 gene promoter:
  • GATA-1
  • GATA-2
  • MAZR
  • MZF-1
  • Pax-4a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • Sox5

Genomic Locations for CLCA1 Gene

Genomic Locations for CLCA1 Gene
chr1:86,468,368-86,500,259
(GRCh38/hg38)
Size:
31,892 bases
Orientation:
Plus strand
chr1:86,934,051-86,965,977
(GRCh37/hg19)
Size:
31,927 bases
Orientation:
Plus strand

Genomic View for CLCA1 Gene

Genes around CLCA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLCA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLCA1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CLCA1 Gene

Proteins for CLCA1 Gene

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  2. Protein
  3. Assay

  • Protein details for CLCA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A8K7I4-CLCA1_HUMAN
    Recommended name:
    Calcium-activated chloride channel regulator 1
    Protein Accession:
    A8K7I4
    Secondary Accessions:
    • B2RAV5
    • O95151
    • Q5TDF4
    • Q9UNF6
    • Q9UPC6

    Protein attributes for CLCA1 Gene

    Size:
    914 amino acids
    Molecular mass:
    100226 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CLCA1 Gene

Protein Expression for CLCA1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CLCA1 Gene

  • Glycosylated.
  • The 125-kDa product is autoproteolytically processed by the metalloprotease domain and yields to two cell-surface-associated subunits, a 90-kDa protein and a group of 37- to 41-kDa proteins. The cleavage is necessary for calcium-activated chloride channel (CaCC) activation activity.
  • Glycosylation at Asn503, Asn585, Asn770, Asn804, Asn810, Asn831, Asn836, and Asn890
  • Modification sites at PhosphoSitePlus

Other Protein References for CLCA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for CLCA1
  • Boster Bio Antibodies for CLCA1
  • Santa Cruz Biotechnology (SCBT) Antibodies for CLCA1

No data available for DME Specific Peptides for CLCA1 Gene

Domains & Families for CLCA1 Gene

Gene Families for CLCA1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins
  • Transporters

Protein Domains for CLCA1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CLCA1 Gene

GenScript: Design optimal peptide antigens:
  • Calcium-activated chloride channel protein 1 (CLCA1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A8K7I4

UniProtKB/Swiss-Prot:

CLCA1_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.
Family:
  • Belongs to the CLCR family.
genes like me logo Genes that share domains with CLCA1: view

Function for CLCA1 Gene

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  2. CRISPR
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Molecular function for CLCA1 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot 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:
chloride channel Ca2+ activated families member 1,outwardly rectifying,exclusively expressed in intestinal basal crypt,epithelia and goblet cells

Enzyme Numbers (IUBMB) for CLCA1 Gene

Phenotypes From GWAS Catalog for CLCA1 Gene

Gene Ontology (GO) - Molecular Function for CLCA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005229 intracellular calcium activated chloride channel activity IBA 21873635
GO:0005254 chloride channel activity TAS 9828122
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with CLCA1: view
genes like me logo Genes that share phenotypes with CLCA1: view

Animal Models for CLCA1 Gene

MGI Knock Outs for CLCA1:

Animal Model Products

  • Taconic Biosciences Mouse Models for CLCA1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLCA1

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CLCA1 Gene

Localization for CLCA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLCA1 Gene

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CLCA1 gene
Compartment Confidence
plasma membrane 4
extracellular 4
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for CLCA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA 21873635
GO:0005902 microvillus IEA --
genes like me logo Genes that share ontologies with CLCA1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CLCA1 Gene

Pathways & Interactions for CLCA1 Gene

PathCards logo

SuperPathways for CLCA1 Gene

SuperPathway Contained pathways
1 Activation of cAMP-Dependent PKA
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
PKA Signaling
.56
2 Ion channel transport
Ion channel transport
.50
Stimuli-sensing channels
.50
3 Pancreatic secretion
Pancreatic secretion
-
4 Renin secretion
Renin secretion
-
5 Neuropathic Pain-Signaling in Dorsal Horn Neurons
Cholera Infection
.40
genes like me logo Genes that share pathways with CLCA1: view

Pathways by source for CLCA1 Gene

2 KEGG pathways for CLCA1 Gene
5 Qiagen pathways for CLCA1 Gene
  • Activation of cAMP-Dependent PKA
  • cAMP Pathway
  • Cholera Infection
  • Hepatic ABC Transporters
  • PKA Signaling

Gene Ontology (GO) - Biological Process for CLCA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0034220 ion transmembrane transport TAS --
genes like me logo Genes that share ontologies with CLCA1: view

No data available for SIGNOR curated interactions for CLCA1 Gene

Drugs & Compounds for CLCA1 Gene

Products:

  1. Drug

(11) Drugs for CLCA1 Gene - From: ApexBio, DGIdb, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Talniflumate Experimental Pharma CaCC blocker and Cl-/HCO3- exchange inhibitor 0
CaCCinh-A01 Pharma 0
Eact Pharma Activator of Ca2+-activated Cl- channel transmembrane protein 16A (TMEM16A) 0
T16Ainh - A01 Pharma 0
CFTRinh 172 Pharma Voltage-independent, selective CFTR chloride channel blocker 0

(3) Additional Compounds for CLCA1 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
GlyH 101
328541-79-3

(4) Tocris Compounds for CLCA1 Gene

Compound Action Cas Number
CFTRinh 172 Voltage-independent, selective CFTR chloride channel blocker 307510-92-5
DCEBIO Activates Cl- conductance and hKCa3.1 channels 60563-36-2
GlyH 101 Reversible, voltage-dependent CFTR chloride channel blocker 328541-79-3
PPQ 102 Potent, voltage-independent CFTR chloride channel inhibitor 931706-15-9

(4) ApexBio Compounds for CLCA1 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 CLCA1: view

Drug Products

Transcripts for CLCA1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CLCA1 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLCA1

Alternative Splicing Database (ASD) splice patterns (SP) for CLCA1 Gene

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: -

Relevant External Links for CLCA1 Gene

GeneLoc Exon Structure for
CLCA1

Expression for CLCA1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CLCA1 Gene

mRNA expression in normal human tissues for CLCA1 Gene
mRNA expression by GTEx for CLCA1 GenemRNA expression by BioGPS for CLCA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CLCA1 Gene

This gene is overexpressed in Colon - Transverse (x30.4) and Small Intestine - Terminal Ileum (x21.7).

Protein differential expression in normal tissues from HIPED for CLCA1 Gene

This gene is overexpressed in Fetal gut (27.8), Pancreatic juice (20.8), Colon (9.2), and Rectum (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CLCA1 Gene



Protein tissue co-expression partners for CLCA1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CLCA1

SOURCE GeneReport for Unigene cluster for CLCA1 Gene:

Hs.194659

mRNA Expression by UniProt/SwissProt for CLCA1 Gene:

A8K7I4-CLCA1_HUMAN
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.

Evidence on tissue expression from TISSUES for CLCA1 Gene

  • Intestine(4.9)
  • Lung(2.6)
genes like me logo Genes that share expression patterns with CLCA1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CLCA1 Gene

Orthologs for CLCA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CLCA1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia CLCA1 30 31
  • 99.27 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CLCA1 30 31
  • 85.33 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CLCA1 30 31
  • 84.75 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Clca3 30 31
  • 78.36 (n)
 OneToOne
Clca1 17
Rat
(Rattus norvegicus)
 Mammalia Clca1 30
  • 77.63 (n)
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 67 (a)
 OneToMany
-- 31
  • 63 (a)
 OneToMany
-- 31
  • 63 (a)
 OneToMany
-- 31
  • 62 (a)
 OneToMany
-- 31
  • 61 (a)
 OneToMany
-- 31
  • 57 (a)
 OneToMany
-- 31
  • 55 (a)
 OneToMany
-- 31
  • 55 (a)
 OneToMany
-- 31
  • 46 (a)
 OneToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 57 (a)
 ManyToMany
-- 31
  • 53 (a)
 ManyToMany
-- 31
  • 44 (a)
 ManyToMany
-- 31
  • 43 (a)
 ManyToMany
Chicken
(Gallus gallus)
 Aves -- 31
  • 45 (a)
 OneToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 49 (a)
 ManyToMany
-- 31
  • 47 (a)
 ManyToMany
-- 31
  • 47 (a)
 ManyToMany
-- 31
  • 47 (a)
 ManyToMany
-- 31
  • 44 (a)
 ManyToMany
-- 31
  • 44 (a)
 ManyToMany
-- 31
  • 44 (a)
 ManyToMany
-- 31
  • 44 (a)
 ManyToMany
-- 31
  • 40 (a)
 ManyToMany
Zebrafish
(Danio rerio)
 Actinopterygii clca1 31
  • 37 (a)
 ManyToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 37 (a)
 ManyToMany
-- 31
  • 34 (a)
 ManyToMany
-- 31
  • 29 (a)
 ManyToMany
-- 31
  • 28 (a)
 ManyToMany
-- 31
  • 26 (a)
 ManyToMany
Species where no ortholog for CLCA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 Vase (Ciona intestinalis)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CLCA1 Gene

ENSEMBL:
Gene Tree for CLCA1 (if available)
TreeFam:
Gene Tree for CLCA1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CLCA1: view image

Paralogs for CLCA1 Gene

Paralogs for CLCA1 Gene

(2) SIMAP similar genes for CLCA1 Gene using alignment to 1 proteins:

  • CLCA1_HUMAN
genes like me logo Genes that share paralogs with CLCA1: view

Variants for CLCA1 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CLCA1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
709550 Benign: not provided 86,495,543(+) T/C MISSENSE_VARIANT
732631 Benign: not provided 86,494,416(+) C/T MISSENSE_VARIANT
778233 Benign: not provided 86,495,683(+) A/G INTRON_VARIANT
783938 Benign: not provided 86,494,331(+) G/A MISSENSE_VARIANT
rs1142185 - p.Glu406Val

Additional dbSNP identifiers (rs#s) for CLCA1 Gene

Structural Variations from Database of Genomic Variants (DGV) for CLCA1 Gene

Variant ID Type Subtype PubMed ID
esv2714396 CNV deletion 23290073
esv3582026 CNV gain 25503493
nsv1119701 CNV deletion 24896259

Variation tolerance for CLCA1 Gene

Residual Variation Intolerance Score: 29.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.63; 56.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CLCA1 Gene

Human Gene Mutation Database (HGMD)
CLCA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CLCA1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLCA1 Gene

Disorders for CLCA1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for CLCA1 Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CLCA1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CLCA1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CLCA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CLCA1 Gene

Publications for CLCA1 Gene

  1. Association of the hCLCA1 gene with childhood and adult asthma. (PMID: 15318163) Kamada F … Matsubara Y (Genes and immunity 2004) 3 23 41
  2. Genomic cloning, molecular characterization, and functional analysis of human CLCA1, the first human member of the family of Ca2+-activated Cl- channel proteins. (PMID: 9828122) Gruber AD … Pauli BU (Genomics 1998) 2 3 4
  3. Self-cleavage of human CLCA1 protein by a novel internal metalloprotease domain controls calcium-activated chloride channel activation. (PMID: 23112050) Yurtsever Z … Brett TJ (The Journal of biological chemistry 2012) 3 4
  4. [Expression and clinical significance of calcium-activated chloride channel and mucins in nasal mucosa with allergic rhinitis]. (PMID: 20464982) Wu W … Wang L (Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery 2010) 3 23
  5. Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P … Inskip PD (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 41

ExternalLinks

View latest publications for CLCA1 gene in Mastermind

Products for CLCA1 Gene

  • Signalway ELISA kits for CLCA1

Sources for CLCA1 Gene