CLCA4
geneOn this page
Also known as CaCC2
Summary
CLCA4 (chloride channel accessory 4, HGNC:2018) is a protein-coding gene on chromosome 1p22.3, encoding Calcium-activated chloride channel regulator 4 (Q14CN2). May be involved in mediating calcium-activated chloride conductance.
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. Alternative splicing results in multiple transcript variants, only one of which is thought to be protein coding.
Source: NCBI Gene 22802 — RefSeq curated summary.
At a glance
- Gene–disease (curated): cystic fibrosis (Supportive, GenCC)
- GWAS associations: 1
- Clinical variants (ClinVar): 138 total
- Phenotypes (HPO): 35
- Druggable target: yes
- MANE Select transcript:
NM_012128
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2018 |
| Approved symbol | CLCA4 |
| Name | chloride channel accessory 4 |
| Location | 1p22.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CaCC2 |
| Ensembl gene | ENSG00000016602 |
| Ensembl biotype | protein_coding |
| OMIM | 616857 |
| Entrez | 22802 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 13 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000370563, ENST00000496322, ENST00000862139, ENST00000862140, ENST00000862141, ENST00000862142, ENST00000862143, ENST00000862144, ENST00000967246, ENST00000967247, ENST00000967248, ENST00000967249, ENST00000967250, ENST00000967251
RefSeq mRNA: 1 — MANE Select: NM_012128
NM_012128
CCDS: CCDS41355
Canonical transcript exons
ENST00000370563 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000776087 | 86565274 | 86565451 |
| ENSE00000776089 | 86567424 | 86567651 |
| ENSE00000776090 | 86571077 | 86571254 |
| ENSE00000776091 | 86572614 | 86572720 |
| ENSE00000776092 | 86574540 | 86574755 |
| ENSE00000776093 | 86575332 | 86575599 |
| ENSE00000776094 | 86577902 | 86578072 |
| ENSE00000776095 | 86579354 | 86579587 |
| ENSE00001851400 | 86579942 | 86580754 |
| ENSE00001942194 | 86547078 | 86547278 |
| ENSE00003470195 | 86565802 | 86566020 |
| ENSE00003518290 | 86560211 | 86560358 |
| ENSE00003643983 | 86563661 | 86563769 |
| ENSE00003653245 | 86559932 | 86560072 |
Expression profiles
Bgee: expression breadth ubiquitous, 209 present calls, max score 99.41.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.5397 / max 826.8079, expressed in 108 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 3862 | 1.0280 | 39 |
| 3865 | 0.2183 | 65 |
| 3864 | 0.1829 | 58 |
| 3863 | 0.0502 | 35 |
| 3866 | 0.0386 | 22 |
| 3861 | 0.0217 | 10 |
Top tissues by expression
283 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus mucosa | UBERON:0035834 | 99.41 | gold quality |
| colonic mucosa | UBERON:0000317 | 99.27 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 99.14 | gold quality |
| oral cavity | UBERON:0000167 | 98.93 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 98.54 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 98.30 | gold quality |
| esophagus mucosa | UBERON:0002469 | 97.94 | gold quality |
| rectum | UBERON:0001052 | 97.86 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 97.86 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 97.21 | gold quality |
| cervix epithelium | UBERON:0004801 | 95.94 | gold quality |
| squamous epithelium | UBERON:0006914 | 94.40 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 94.16 | gold quality |
| ileal mucosa | UBERON:0000331 | 93.96 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 92.55 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 92.32 | gold quality |
| buccal mucosa cell | CL:0002336 | 91.54 | gold quality |
| mammalian vulva | UBERON:0000997 | 90.76 | gold quality |
| transverse colon | UBERON:0001157 | 89.67 | gold quality |
| upper leg skin | UBERON:0004262 | 89.61 | gold quality |
| gingiva | UBERON:0001828 | 89.40 | gold quality |
| body of tongue | UBERON:0011876 | 88.68 | gold quality |
| periodontal ligament | UBERON:0008266 | 87.26 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 86.85 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 86.79 | gold quality |
| vermiform appendix | UBERON:0001154 | 86.71 | gold quality |
| vagina | UBERON:0000996 | 86.46 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 86.44 | gold quality |
| gingival epithelium | UBERON:0001949 | 86.32 | gold quality |
| upper arm skin | UBERON:0004263 | 83.75 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9543 | yes | 2845.00 |
| E-CURD-114 | yes | 54.29 |
| E-ANND-3 | yes | 14.98 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
18 targeting CLCA4, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-3659 | 99.70 | 67.97 | 694 |
| HSA-MIR-4699-5P | 98.99 | 67.50 | 1210 |
| HSA-MIR-367-5P | 98.84 | 67.18 | 902 |
| HSA-MIR-501-5P | 98.77 | 68.88 | 1328 |
| HSA-MIR-4635 | 98.74 | 67.63 | 1339 |
| HSA-MIR-5187-5P | 98.54 | 67.94 | 952 |
| HSA-MIR-6728-5P | 97.79 | 66.33 | 891 |
| HSA-MIR-643 | 97.35 | 67.91 | 805 |
| HSA-MIR-362-5P | 95.87 | 66.02 | 554 |
| HSA-MIR-500B-5P | 95.87 | 66.04 | 557 |
| HSA-MIR-4330 | 95.44 | 66.39 | 993 |
Literature-anchored findings (GeneRIF, showing 9)
- CLCA1 and CLCA4 may have roles as modulators of the gastrointestinal basic defect in cystic fibrosis (PMID:15490240)
- CLCA4 modulates the capability to express residual chloride secretion in colonic tissue. (PMID:23073314)
- CLCA4 and CLCA2 play complementary but distinct roles in epithelial differentiation (PMID:24386311)
- CLCA4 contributes to migration and invasion by suppressing epithelial-mesenchymal transition via PI3K/ATK signaling and predicts favourable prognosis for hepatocellular carcinoma. (PMID:30312171)
- Six SNPs, c.390C>T (rs190628533), c.1474A>G (rs2231599), c.2105C>G (rs757773924), c.2371A>T) (rs759981524), c.956G>A (rs763334876), and c.895T>C (rs79822589) were identified in the study group of cases in Non-Obstructive Azoospermia but not in control subjects. The allele and genotype frequencies of the six SNPs were not significantly different between the study group and the controls. (PMID:30887952)
- CLCA4 inhibits migration and invasion by suppressing EMT via PI3K/ATK signaling and predicts favorable prognosis of CRC which may help to distinguish potential risk of lymph node metastasis in CRC. (PMID:31164625)
- Frameshift Mutations and Loss of Expression of CLCA4 Gene are Frequent in Colorectal Cancers With Microsatellite Instability. (PMID:32773719)
- CLCA4 and MS4A12 as the significant gene biomarkers of primary colorectal cancer. (PMID:32797167)
- Modulation of TMEM16B channel activity by the calcium-activated chloride channel regulator 4 (CLCA4) in human cells. (PMID:38825009)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Clca4a | ENSMUSG00000068547 |
| mus_musculus | Clca4b | ENSMUSG00000074195 |
| rattus_norvegicus | Clca4 | ENSRNOG00000029889 |
Paralogs (2): CLCA1 (ENSG00000016490), CLCA2 (ENSG00000137975)
Protein
Protein identifiers
Calcium-activated chloride channel regulator 4 — Q14CN2 (reviewed: Q14CN2)
Alternative names: Calcium-activated chloride channel family member 4, Calcium-activated chloride channel protein 2, Chloride channel accessory 4
All UniProt accessions (1): Q14CN2
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in mediating calcium-activated chloride conductance.
Subcellular location. Cell membrane. Apical cell membrane. Secreted.
Tissue specificity. Primarily expressed in the digestive tract, mainly in colon. Detected in smaller amounts in brain, urogenital organs, testis, and salivary and mammary glands. Highly expressed in the epithelial layer and submucosal gland of the inferior turbinate mucosa. Lower levels in the epithelial layer of nasal polyp.
Post-translational modifications. The translation product is autoproteolytically cleaved by the metalloprotease domain in the endoplasmic reticulum into a N-terminal and a C-terminal products that remain physically associated with each other. The cleavage is necessary for calcium-activated chloride channel (CaCC) activation activity.
Domain organisation. The metalloprotease region is responsible for autoproteolytic processing. It can also cross-cleave other CLCA substrates.
Induction. Down-regulated in oral tongue squamous cell carcinomas.
Similarity. Belongs to the CLCR family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q14CN2-1 | 1 | yes |
| Q14CN2-2 | 2 |
RefSeq proteins (1): NP_036260* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002035 | VWF_A | Domain |
| IPR004727 | CLCA_chordata | Family |
| IPR013642 | CLCA_N | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036465 | vWFA_dom_sf | Homologous_superfamily |
| IPR051266 | CLCR | Family |
Pfam: PF00092, PF08434
UniProt features (32 total): glycosylation site 10, sequence variant 5, chain 3, binding site 3, splice variant 3, region of interest 2, signal peptide 1, site 1, sequence conflict 1, transmembrane region 1, domain 1, active site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q14CN2-F1 | 89.48 | 0.76 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (2): 697–698 (cleavage; by autolysis); 156
Ligand- & substrate-binding residues (3): 159; 166; 155
Glycosylation sites (10): 75, 340, 504, 542, 588, 628, 811, 832, 837, 852
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-2672351 | Stimuli-sensing channels |
MSigDB gene sets: 169 (showing top):
GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, GSE45365_NK_CELL_VS_CD8A_DC_DN, GOMF_METALLOPEPTIDASE_ACTIVITY, GOBP_INORGANIC_ANION_TRANSPORT, GOBP_CHLORIDE_TRANSPORT, KEGG_OLFACTORY_TRANSDUCTION, GOCC_APICAL_PLASMA_MEMBRANE, SABATES_COLORECTAL_ADENOMA_DN, chr1p22, GOBP_TRANSMEMBRANE_TRANSPORT, GOCC_APICAL_PART_OF_CELL, GOBP_PROTEOLYSIS, GOCC_PLASMA_MEMBRANE_REGION, GOMF_GATED_CHANNEL_ACTIVITY, GOMF_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY
GO Biological Process (4): proteolysis (GO:0006508), monoatomic ion transmembrane transport (GO:0034220), chloride transport (GO:0006821), chloride transmembrane transport (GO:1902476)
GO Molecular Function (7): metalloendopeptidase activity (GO:0004222), intracellularly calcium-gated chloride channel activity (GO:0005229), chloride channel activity (GO:0005254), metal ion binding (GO:0046872), peptidase activity (GO:0008233), metallopeptidase activity (GO:0008237), hydrolase activity (GO:0016787)
GO Cellular Component (4): extracellular region (GO:0005576), plasma membrane (GO:0005886), apical plasma membrane (GO:0016324), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Ion channel transport | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| protein metabolic process | 1 |
| monoatomic ion transport | 1 |
| transmembrane transport | 1 |
| monoatomic anion transport | 1 |
| inorganic anion transport | 1 |
| chloride transport | 1 |
| monoatomic anion transmembrane transport | 1 |
| endopeptidase activity | 1 |
| metallopeptidase activity | 1 |
| chloride channel activity | 1 |
| ligand-gated monoatomic anion channel activity | 1 |
| intracellularly calcium-gated channel activity | 1 |
| monoatomic anion channel activity | 1 |
| chloride transmembrane transporter activity | 1 |
| cation binding | 1 |
| hydrolase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| peptidase activity | 1 |
| catalytic activity | 1 |
| membrane | 1 |
| cell periphery | 1 |
| apical part of cell | 1 |
| plasma membrane region | 1 |
Protein interactions and networks
STRING
1498 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CLCA4 | ANO2 | Q9NQ90 | 984 |
| CLCA4 | ANO1 | Q5XXA6 | 946 |
| CLCA4 | CFTR | P13569 | 720 |
| CLCA4 | ANO6 | Q4KMQ2 | 655 |
| CLCA4 | MS4A12 | Q9NXJ0 | 624 |
| CLCA4 | ANO10 | Q9NW15 | 605 |
| CLCA4 | BEST1 | O76090 | 590 |
| CLCA4 | BEST2 | Q8NFU1 | 589 |
| CLCA4 | GUCA2A | Q02747 | 571 |
| CLCA4 | ZG16 | O60844 | 555 |
| CLCA4 | ANO5 | Q75V66 | 527 |
| CLCA4 | LRRC8B | Q6P9F7 | 514 |
| CLCA4 | SLC26A3 | P40879 | 489 |
| CLCA4 | SLC12A2 | P55011 | 484 |
| CLCA4 | LRRC8A | Q8IWT6 | 480 |
| CLCA4 | ANO7 | Q6IWH7 | 480 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CLCA4 | BDKRB2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SRRT | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| INSR | RIMOC1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (24): CLCA4 (Two-hybrid), FKBP7 (Two-hybrid), PANX1 (Two-hybrid), SLC39A7 (Two-hybrid), ELOVL4 (Two-hybrid), FAM209A (Two-hybrid), ERGIC3 (Two-hybrid), GPR42 (Two-hybrid), SLC22A23 (Two-hybrid), FAM134C (Two-hybrid), MGST3 (Two-hybrid), FCER1G (Two-hybrid), SLC39A2 (Two-hybrid), SCN3B (Two-hybrid), AQP2 (Two-hybrid)
ESM2 similar proteins: A0A2D0TC04, A1A4K5, A2VDP5, A8K7I4, J3SBP3, J3SEZ3, O14638, P06802, P0DQQ4, P15396, P18563, P18564, P22413, P54793, P97259, P97675, Q08834, Q09328, Q13822, Q14CN2, Q1RPR6, Q29444, Q2TU62, Q32KH8, Q3SZI1, Q4FZV0, Q5FYA8, Q5GF25, Q5R5M5, Q64610, Q6AYF4, Q6DDW2, Q6DYE8, Q6NXH2, Q6PT52, Q6Q473, Q863C4, Q8BTJ4, Q8K1B9, Q8K2I4
Diamond homologs: A8K7I4, P54281, Q14CN2, Q2TU62, Q6PT52, Q6Q473, Q8BG22, Q9D7Z6, Q9QX15, Q9TUB5, Q9UQC9, Q55874
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
138 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 120 |
| Likely benign | 14 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1891 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:86547275:AGAGG:A | donor_loss | 1.0000 |
| 1:86547276:GAG:G | donor_gain | 1.0000 |
| 1:86547277:AGGTA:A | donor_loss | 1.0000 |
| 1:86547278:GGTAA:G | donor_loss | 1.0000 |
| 1:86547279:G:GC | donor_loss | 1.0000 |
| 1:86547279:G:GG | donor_gain | 1.0000 |
| 1:86547280:T:A | donor_loss | 1.0000 |
| 1:86560068:AACAT:A | donor_gain | 1.0000 |
| 1:86560069:ACAT:A | donor_gain | 1.0000 |
| 1:86560070:CAT:C | donor_gain | 1.0000 |
| 1:86560073:G:GG | donor_gain | 1.0000 |
| 1:86563742:C:G | donor_gain | 1.0000 |
| 1:86565452:G:GG | donor_gain | 1.0000 |
| 1:86570455:A:AG | donor_gain | 1.0000 |
| 1:86570455:A:G | donor_gain | 1.0000 |
| 1:86571072:T:TA | acceptor_gain | 1.0000 |
| 1:86571072:TGCA:T | acceptor_loss | 1.0000 |
| 1:86571075:A:AG | acceptor_gain | 1.0000 |
| 1:86571075:A:AT | acceptor_loss | 1.0000 |
| 1:86571075:AG:A | acceptor_gain | 1.0000 |
| 1:86571075:AGGT:A | acceptor_gain | 1.0000 |
| 1:86571076:G:GA | acceptor_gain | 1.0000 |
| 1:86571076:GG:G | acceptor_gain | 1.0000 |
| 1:86571076:GGT:G | acceptor_gain | 1.0000 |
| 1:86571076:GGTG:G | acceptor_gain | 1.0000 |
| 1:86571076:GGTGA:G | acceptor_gain | 1.0000 |
| 1:86571250:AACAG:A | donor_loss | 1.0000 |
| 1:86571251:ACAGG:A | donor_loss | 1.0000 |
| 1:86571252:CAGGT:C | donor_loss | 1.0000 |
| 1:86571253:AGGT:A | donor_loss | 1.0000 |
AlphaMissense
6103 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:86563681:T:A | W157R | 0.992 |
| 1:86563681:T:C | W157R | 0.992 |
| 1:86579551:T:A | W774R | 0.991 |
| 1:86579551:T:C | W774R | 0.991 |
| 1:86567514:T:C | F349L | 0.988 |
| 1:86567516:T:A | F349L | 0.988 |
| 1:86567516:T:G | F349L | 0.988 |
| 1:86563696:T:A | W162R | 0.987 |
| 1:86563696:T:C | W162R | 0.987 |
| 1:86580124:A:C | S847R | 0.982 |
| 1:86580126:T:A | S847R | 0.982 |
| 1:86580126:T:G | S847R | 0.982 |
| 1:86565383:T:A | C223S | 0.980 |
| 1:86565384:G:C | C223S | 0.980 |
| 1:86567502:G:T | G345W | 0.980 |
| 1:86575540:C:A | A631D | 0.979 |
| 1:86559947:G:C | A59P | 0.976 |
| 1:86563698:G:C | W162C | 0.974 |
| 1:86563698:G:T | W162C | 0.974 |
| 1:86565389:T:C | F225L | 0.974 |
| 1:86565391:C:A | F225L | 0.974 |
| 1:86565391:C:G | F225L | 0.974 |
| 1:86565865:T:A | C267S | 0.974 |
| 1:86565866:G:C | C267S | 0.974 |
| 1:86567454:G:C | A329P | 0.974 |
| 1:86565988:T:C | C308R | 0.972 |
| 1:86575341:T:A | W565R | 0.972 |
| 1:86575341:T:C | W565R | 0.972 |
| 1:86579553:G:C | W774C | 0.972 |
| 1:86579553:G:T | W774C | 0.972 |
dbSNP variants (sampled 300 via entrez): RS1000064671 (1:86572631 G>A), RS1000091891 (1:86562168 G>A), RS1000372816 (1:86568561 A>C), RS1000580072 (1:86578501 T>C), RS1000744372 (1:86551673 C>G), RS1000937677 (1:86577187 C>T), RS1000947334 (1:86545344 A>G,T), RS1001074542 (1:86574647 T>G), RS1001162334 (1:86551123 A>G), RS1001357985 (1:86575004 C>T), RS1001644931 (1:86548133 A>G), RS1001668850 (1:86562350 T>C), RS1001875446 (1:86568169 T>C), RS1001943973 (1:86556073 A>G), RS1001952583 (1:86562940 A>G,T)
Disease associations
OMIM: gene MIM:616857 | disease phenotypes: MIM:209850
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| cystic fibrosis | Supportive | Autosomal recessive |
Mondo (3): autism (MONDO:0005260), male infertility (MONDO:0005372), cystic fibrosis (MONDO:0009061)
Orphanet (0):
HPO phenotypes
35 total (30 of 35 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000246 | Sinusitis |
| HP:0000365 | Hearing impairment |
| HP:0000716 | Depression |
| HP:0000739 | Anxiety |
| HP:0000787 | Nephrolithiasis |
| HP:0000938 | Osteopenia |
| HP:0000939 | Osteoporosis |
| HP:0001392 | Abnormality of the liver |
| HP:0001394 | Cirrhosis |
| HP:0001508 | Failure to thrive |
| HP:0001738 | Exocrine pancreatic insufficiency |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002024 | Malabsorption |
| HP:0002035 | Rectal prolapse |
| HP:0002099 | Asthma |
| HP:0002105 | Hemoptysis |
| HP:0002107 | Pneumothorax |
| HP:0002110 | Bronchiectasis |
| HP:0002205 | Recurrent respiratory infections |
| HP:0002570 | Steatorrhea |
| HP:0002724 | Recurrent Aspergillus infections |
| HP:0002726 | Recurrent Staphylococcus aureus infections |
| HP:0002783 | Recurrent lower respiratory tract infections |
| HP:0002842 | Recurrent Burkholderia cepacia infections |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0003251 | Male infertility |
| HP:0004401 | Meconium ileus |
| HP:0005376 | Recurrent Haemophilus influenzae infections |
| HP:0006536 | Airway obstruction |
| HP:0012236 | Elevated sweat chloride |
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST012047_20 | Fasting glucose | 4.000000e-07 |
MeSH disease descriptors (3)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D001321 | Autistic Disorder | F03.625.164.113.500 |
| D003550 | Cystic Fibrosis | C06.689.202; C08.381.187; C16.320.190; C16.614.213 |
| D007248 | Infertility, Male | C12.100.500.430; C12.100.750.700; C12.200.294.430 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL2364708 (PROTEIN FAMILY)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
21 total (human), top 21 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects methylation, decreases expression, increases abundance, increases expression | 3 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| bisphenol A | increases methylation | 1 |
| sodium arsenate | increases abundance, decreases expression | 1 |
| arsenite | increases abundance, decreases expression | 1 |
| monomethylarsonic acid | decreases expression | 1 |
| arsenic acid | decreases expression, increases abundance | 1 |
| hydroquinone | decreases expression | 1 |
| monomethylarsonous acid | decreases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | decreases reaction, increases expression | 1 |
| dimethylmonothioarsinic acid | decreases expression | 1 |
| Vehicle Emissions | increases expression, decreases reaction | 1 |
| Cacodylic Acid | decreases expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Nickel | decreases expression | 1 |
| Progesterone | affects cotreatment, decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Valproic Acid | decreases methylation | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Particulate Matter | decreases reaction, increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_YA38 | IDG-HEK293T-CLCA4-V5-OE | Transformed cell line | Female |
Clinical trials (associated diseases)
600 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00157690 | PHASE4 | COMPLETED | Study of Alendronate to Prevent and Treat Osteoporosis in Cystic Fibrosis Patients |
| NCT00208078 | PHASE4 | TERMINATED | Effect of Non-Invasive Ventilation in Cystic Fibrosis Patient With Chronic Respiratory Failure. |
| NCT00244270 | PHASE4 | COMPLETED | Cystic Fibrosis and Totally Implantable Vascular Access Devices |
| NCT00333385 | PHASE4 | TERMINATED | Continuous Versus Short Infusions of Ceftazidime in Cystic Fibrosis |
| NCT00411736 | PHASE4 | COMPLETED | Scandinavian Cystic Fibrosis Azithromycin Study |
| NCT00418470 | PHASE4 | TERMINATED | Prolonging the Duration of Peripheral Venous Catheters in Cystic Fibrosis People |
| NCT00431964 | PHASE4 | COMPLETED | Effect of Azithromycin on Lung Function in 6-18 Year-olds With Cystic Fibrosis (CF) Not Infected With P. Aeruginosa |
| NCT00434278 | PHASE4 | TERMINATED | A Trial of Pulmozyme Withdrawal on Exercise Tolerance in Cystic Fibrosis Subjects With Severe Lung Disease (TOPIC) |
| NCT00483769 | PHASE4 | COMPLETED | One Year Glargine Treatment in CFRD Children and Adolescents |
| NCT00528190 | PHASE4 | COMPLETED | Treatment of Aspergillus Fumigatus (a Fungal Infection) in Patients With Cystic Fibrosis |
| NCT00557089 | PHASE4 | COMPLETED | The Effect of rhDNase on Ventilation Inhomogeneity in Patients With Cystic Fibrosis |
| NCT00572975 | PHASE4 | COMPLETED | Malabsorption Blood Test:Toward a Novel Approach to Quantify Steatorrhea |
| NCT00680316 | PHASE4 | TERMINATED | A Study of Pulmozyme® (Dornase Alpha) in 3- to 5-Year-Old Patients With Cystic Fibrosis |
| NCT00685035 | PHASE4 | COMPLETED | Comparison of Airway Clearance Therapy in Cystic Fibrosis Using the Same VEST Therapy Device But With Different Settings |
| NCT00744250 | PHASE4 | TERMINATED | Intraduodenal Aspiration Study to Assess the Bioavailability of Oral Pancrecarb® Compared to Placebo Control |
| NCT00787917 | PHASE4 | TERMINATED | An Exploratory Study to Assess Multiple Doses of Omalizumab in Patients With Cystic Fibrosis Complicated by Acute Bronchopulmonary Aspergillosis (ABPA) |
| NCT00843817 | PHASE4 | COMPLETED | RhDNase and Biodistribution of PMN Serine Proteases in Cystic Fibrosis Sputum |
| NCT00890370 | PHASE4 | COMPLETED | Should Any One Airway Clearance Technique be Recommended for People With Cystic Fibrosis? |
| NCT00996424 | PHASE4 | TERMINATED | The Effect of Inhaled N-Acetylcysteine Compared to Normal Saline on Sputum Rheology and Lung Function |
| NCT01044719 | PHASE4 | UNKNOWN | Duration of Antibiotics in Infective Exacerbations of Cystic Fibrosis |
| NCT01100606 | PHASE4 | COMPLETED | A Study to Evaluate the Mode of Administration and Safety of EUR-1008 (APT-1008) in Infants 1 to 12 Months of Age |
| NCT01131507 | PHASE4 | COMPLETED | PR-018: An Open-Label, Safety Extension of Study PR-011 |
| NCT01207245 | PHASE4 | COMPLETED | Circadian Rhythm In Tobramycin Elimination In Cystic Fibrosis |
| NCT01323101 | PHASE4 | COMPLETED | Doxycycline Effects on Inflammation in Cystic Fibrosis |
| NCT01327703 | PHASE4 | COMPLETED | Control of Steatorrhea in Participants With Cystic Fibrosis and Exocrine Pancreatic Insufficiency |
| NCT01377792 | PHASE4 | COMPLETED | Study of Long-term Treatment With Hypertonic Saline in Patients With Cystic Fibrosis |
| NCT01400750 | PHASE4 | COMPLETED | Comparison of 2 Treatment Regimens for Eradication of P Aeruginosa Infection in Children With Cystic Fibrosis |
| NCT01429259 | PHASE4 | COMPLETED | Population Pharmacokinetics of Prolonged Infusion Meropenem in Cystic Fibrosis (CF) Children |
| NCT01608555 | PHASE4 | COMPLETED | Tobramycin 300 mg Once-a-day (o.d.) Aerosol in Adults With Cystic Fibrosis |
| NCT01667094 | PHASE4 | UNKNOWN | A Study Comparing Continuous Infusion Antibiotics to Standard Treatment for Lung Infections in Cystic Fibrosis |
| NCT01694069 | PHASE4 | TERMINATED | Continuous Infusion Piperacillin-tazobactam for the Treatment of Cystic Fibrosis |
| NCT01702415 | PHASE4 | WITHDRAWN | Zoledronic Acid in Cystic Fibrosis |
| NCT01712334 | PHASE4 | COMPLETED | A Study of the Comparable Efficacy and Safety of Pulmozyme (Dornase Alfa) Delivered by the eRapid Nebulizer System in Patients With Cystic Fibrosis |
| NCT01737983 | PHASE4 | COMPLETED | Effect of Lactobacillus Reuteri in Cystic Fibrosis |
| NCT01844778 | PHASE4 | COMPLETED | Ease of Use and Microbial Contamination of Tobramycin Inhalation Powder (TIP) Versus Nebulised Tobramycin Inhalation Solution (TIS) and Nebulised Colistimethate (COLI) |
| NCT01880346 | PHASE4 | COMPLETED | Comparison of Absorption of Vitamin D in Cystic Fibrosis |
| NCT01882400 | PHASE4 | COMPLETED | Assessment of Response to Treatment of Osteoporosis With Oral Bisphosphonates in Patients With Muscular Dystrophy |
| NCT01937325 | PHASE4 | UNKNOWN | CPET in CF Patients With One G551D Mutation Taking VX770 |
| NCT02015663 | PHASE4 | TERMINATED | Tobramycin Inhalation Powder (TIP) Administered Once Daily Continuously Versus TIP Administered BID in 28 Day on / 28 Day Off Cycles |
| NCT02048592 | PHASE4 | UNKNOWN | Impact of Immunonutrition on the Patients With Cystic Fibrosis |
Related Atlas pages
- Associated diseases: cystic fibrosis
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cystic fibrosis, male infertility