CLCA1

Summary

CLCA1 (chloride channel accessory 1, HGNC:2015) is a protein-coding gene on chromosome 1p22.3, encoding Calcium-activated chloride channel regulator 1 (A8K7I4). May be involved in mediating calcium-activated chloride conductance.

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.

Source: NCBI Gene 1179 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 120 total — 1 pathogenic
• Druggable target: yes
• MANE Select transcript: NM_001285

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2015
Approved symbol	CLCA1
Name	chloride channel accessory 1
Location	1p22.3
Locus type	gene with protein product
Status	Approved
Aliases	CaCC, CLCRG1
Ensembl gene	ENSG00000016490
Ensembl biotype	protein_coding
OMIM	603906
Entrez	1179

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 12 protein_coding

ENST00000234701, ENST00000394711, ENST00000907928, ENST00000907929, ENST00000907930, ENST00000907931, ENST00000907932, ENST00000907933, ENST00000907934, ENST00000907935, ENST00000907936, ENST00000957889

RefSeq mRNA: 1 — MANE Select: NM_001285 NM_001285

CCDS: CCDS709

Canonical transcript exons

ENST00000394711 — 14 exons

Exon	Start	End
ENSE00000775996	86473729	86473876
ENSE00000776028	86494187	86494448
ENSE00001316699	86473417	86473557
ENSE00001384022	86499654	86500259
ENSE00001519340	86468927	86469133
ENSE00003256411	86488996	86489170
ENSE00003292690	86482205	86482382
ENSE00003301595	86486526	86486753
ENSE00003309316	86495505	86495675
ENSE00003329927	86485343	86485561
ENSE00003342523	86476448	86476553
ENSE00003380163	86491265	86491371
ENSE00003383525	86493384	86493599
ENSE00003413472	86498572	86498811

Expression profiles

Bgee: expression breadth ubiquitous, 114 present calls, max score 99.90.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 4.8056 / max 1715.3201, expressed in 21 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
3853	4.7137	21
3852	0.0767	9
3851	0.0152	7

Top tissues by expression

268 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
ileal mucosa	UBERON:0000331	99.90	gold quality
ileum	UBERON:0002116	99.87	gold quality
mucosa of sigmoid colon	UBERON:0004993	99.78	gold quality
jejunal mucosa	UBERON:0000399	99.73	gold quality
colonic mucosa	UBERON:0000317	99.17	gold quality
mucosa of transverse colon	UBERON:0004991	98.77	gold quality
rectum	UBERON:0001052	97.67	gold quality
duodenum	UBERON:0002114	96.96	gold quality
caecum	UBERON:0001153	96.32	gold quality
vermiform appendix	UBERON:0001154	96.25	gold quality
small intestine Peyer’s patch	UBERON:0003454	94.27	gold quality
small intestine	UBERON:0002108	92.98	gold quality
transverse colon	UBERON:0001157	90.77	gold quality
jejunum	UBERON:0002115	84.06	gold quality
intestine	UBERON:0000160	83.73	gold quality
pancreatic ductal cell	CL:0002079	81.56	silver quality
colonic epithelium	UBERON:0000397	81.52	gold quality
large intestine	UBERON:0000059	80.76	gold quality
colon	UBERON:0001155	79.91	gold quality
type B pancreatic cell	CL:0000169	75.66	gold quality
smooth muscle tissue	UBERON:0001135	75.52	gold quality
olfactory bulb	UBERON:0002264	74.37	gold quality
epithelial cell of pancreas	CL:0000083	71.34	silver quality
buccal mucosa cell	CL:0002336	69.88	gold quality
diaphragm	UBERON:0001103	68.56	gold quality
sigmoid colon	UBERON:0001159	63.01	gold quality
deltoid	UBERON:0001476	62.06	gold quality
quadriceps femoris	UBERON:0001377	61.43	gold quality
vastus lateralis	UBERON:0001379	61.37	gold quality
left ventricle myocardium	UBERON:0006566	60.95	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-GEOD-125970	yes	11219.60
E-MTAB-9906	yes	8157.37
E-CURD-46	yes	5402.86
E-MTAB-8410	yes	12.29
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ESR1, GLI1, MEF2A

miRNA regulators (miRDB)

12 targeting CLCA1, 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-3613-3P	100.00	76.36	7965
HSA-MIR-12129	99.72	67.45	1311
HSA-MIR-3660	99.68	67.33	1149
HSA-MIR-4526	99.68	67.07	1136
HSA-MIR-4666B	99.64	68.69	1282
HSA-MIR-6839-3P	99.39	68.86	1301
HSA-MIR-6719-3P	99.29	67.78	1387
HSA-MIR-3130-5P	98.14	66.00	711
HSA-MIR-4700-3P	97.74	68.64	1014
HSA-MIR-4482-5P	97.53	65.68	598
HSA-MIR-4313	97.18	63.15	420
HSA-MIR-6730-3P	97.03	67.54	889

Literature-anchored findings (GeneRIF, showing 33)

• upregulation in the IL-9- responsive mucus-producing epithelium of asthmatic subjects supports the hypothesis that this channel may be responsible, in part, for the overproduction of mucus in asthmatic subjects (PMID:11842292)
• transfection of Caco-2 human colon carcinoma cell line with pCLCA1 to investigate the regulation of CLCA-associated chloride conductance in this differentiated epithelial cell line (PMID:12408984)
• hCLCA1 expression in NCI-H292 cells specifically induces soluble gel-forming mucin production. This Ca2+-activated Cl- channel plays an important role in epithelial-regulated inflammatory responses, including goblet cell metaplasia. (PMID:12568493)
• polymorphisms in chronic obstructive pulmonary disease (PMID:14985398)
• Variation of the CLCA1 gene affects patients’ susceptibility for childhood and adult asthma in a Japanese population. (PMID:15318163)
• CLCA1 and CLCA4 may have roles as modulators of the gastrointestinal basic defect in cystic fibrosis (PMID:15490240)
• conclude that hCLCA1 and mCLCA3 are non-integral membrane proteins and therefore cannot be chloride channels in their own right (PMID:15919655)
• We successfully cloned a rat brain CLCA (rbCLCA). (PMID:16023076)
• CACC play a direct role in mucus production by goblet cells and may thus contribute to the pathogenesis of asthma. (PMID:16148052)
• IL-13 might induce the expression of MUC5AC and hCLCA1 gene and protein in well-differentiated NHBE cells. These cells might also differentiate into goblet cells and become hyperplastic (PMID:16465045)
• Evidence is given for a role of the CLCA1 hydrolase domain in processing of mature full-length CLCA1 (PMID:16470849)
• CLCA1 may be a key signaling member that can be targeted with pharmacologic interventions to treat mucus hypersecretion. (PMID:17426222)
• These data suggest that hCLCA1 may play a role in LPS-induced mucin expression in human airway mucosa. (PMID:17621552)
• These results suggest that the up-regulated gene expression of CaCC1 exists, which is complicated with mucus hyper-secretion in Chinese asthmatic airway. (PMID:17698377)
• hClCa1 does not form Ca(2+)-dependent Cl- channels per se. hClCa1 elevates the single channel conductance of endogenous Ca(2+)-dependent Cl- channels by lowering the energy barriers for ion translocation through the pore. (PMID:19307298)
• genetic polymorphism is associated with childhood asthma (PMID:19530997)
• The 357SS genotype was significantly overrepresented in both patients with meconium ileus and also with a severe CFTR genotype (P = 0.009) and in p.F508del homozygotes (P = 0.002). (PMID:20179644)
• Increased expression of hCLCA1 in allergic rhinitis was correlated with the expression of MUC5AC. (PMID:20464982)
• in cultured nasal airway cells, Th2 type cytokines increased hCLCA1 (calcium-activated chloride channel 1) expression in Cystic Fibrosis patients but not mucus expression (PMID:20542744)
• CLCA1 expression is significantly related to mucus production in the airway epithelia of smokers and COPD patients, and may contribute to the development and pathogenesis of COPD by inducing mucus production. (PMID:22731784)
• These data provide both a mechanistic basis for CLCA1 self-cleavage and a novel mechanism for regulation of chloride channel activity specific to the mucosal interface. (PMID:23112050)
• CLCA1 may contribute to promoting spontaneous differentiation and reducing proliferation of Caco-2 cells. (PMID:23593331)
• These findings demonstrate the ability of hCLCA1 to function as a signaling molecule and activate macrophages, central regulators of airway inflammation. (PMID:24349445)
• Results confirmed that the low expression of CLCA1 in CRC was associated with tumorigenesis, early metastasis, and high chromosomal instability. Low expression of CLCA1 predicts recurrence and lower survival. (PMID:25603912)
• Data show that calcium-activated chloride channel regulator 1 (CLCA1) and transmembrane protein 16A (TMEM16A) co-localize and physically interact and that CLCA1 increases the level of TMEM16A protein at the cell surface. (PMID:25781344)
• inhibitor and siRNA transfection studies demonstrated an apparent effect of CLCA1 on ovarian cancer cell aggregation (PMID:26004777)
• Increase in TMEM16A activity occurred within minutes of exposure to CLCA1 or after a short treatment with nocodazole, consistent with the hypothesis that CLCA1 stabilizes TMEM16A at the cell surface by preventing its internalization. (PMID:28420732)
• CLCA1 suppresses colorectal cancer aggressiveness via inhibition of the Wnt/beta-catenin signaling pathway (PMID:28974231)
• Results suggest that CLCA1 is involved in intestinal mucus homeostasis by facilitating processing and removal of mucus to prevent stagnation. (PMID:29885864)
• SDR16C5 and SDR16C6 enzymes are not critical for survival but are responsible for most of the retinol dehydrogenase activity in skin, essential for the regulation of the hair-follicle cycle, and required for the maintenance of both sebaceous and meibomian glands (PMID:31570526)
• Structural and Biophysical Analysis of the CLCA1 VWA Domain Suggests Mode of TMEM16A Engagement. (PMID:31995732)
• Rab7-dependent regulation of goblet cell protein CLCA1 modulates gastrointestinal homeostasis. (PMID:38593125)
• CLCA1 exacerbates lung inflammation via p38 MAPK pathway in acute respiratory distress syndrome. (PMID:38597420)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	clca1	ENSDARG00000016290
danio_rerio	si:ch211-116o3.3	ENSDARG00000086498
danio_rerio	clca5.1	ENSDARG00000099606
danio_rerio	clca5.2	ENSDARG00000100941
mus_musculus	Clca1	ENSMUSG00000028255
rattus_norvegicus	Clca1	ENSRNOG00000060831

Paralogs (2): CLCA4 (ENSG00000016602), CLCA2 (ENSG00000137975)

Protein

Protein identifiers

Calcium-activated chloride channel regulator 1 — A8K7I4 (reviewed: A8K7I4)

Alternative names: Calcium-activated chloride channel family member 1, Calcium-activated chloride channel protein 1

All UniProt accessions (1): A8K7I4

UniProt curated annotations — full annotation on UniProt →

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.

Subcellular location. Secreted. Extracellular space. Cell membrane.

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.

Post-translational modifications. 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.

Domain organisation. The metalloprotease region is responsible for autoproteolytic processing. It can also cross-cleave other CLCA substrates.

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.

Similarity. Belongs to the CLCR family.

RefSeq proteins (1): NP_001276* (*=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: PF08434, PF13519

UniProt features (45 total): glycosylation site 8, sequence variant 8, helix 7, mutagenesis site 6, strand 5, binding site 3, signal peptide 1, chain 1, domain 1, region of interest 1, sequence conflict 1, active site 1, turn 1, site 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
6PYO	X-RAY DIFFRACTION	2
6PYX	X-RAY DIFFRACTION	2.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A8K7I4-F1	88.40	0.75

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): 157; 694–695 (cleavage; by autolysis)

Ligand- & substrate-binding residues (3): 156; 160; 167

Glycosylation sites (8): 585, 770, 804, 810, 831, 836, 890, 503

Mutagenesis-validated functional residues (6):

Position	Phenotype
150	reduces proteolytic cleavage.
156	abolishes proteolytic cleavage.
157	abolishes proteolytic cleavage.
160	abolishes proteolytic cleavage.
167	abolishes proteolytic cleavage.
168	abolishes proteolytic cleavage.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-2672351	Stimuli-sensing channels

MSigDB gene sets: 105 (showing top): GOMF_METALLOPEPTIDASE_ACTIVITY, GOCC_SECRETORY_GRANULE, GOBP_INORGANIC_ANION_TRANSPORT, GGGTGGRR_PAX4_03, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, GOBP_MONOATOMIC_CATION_TRANSPORT, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_LEVELS, GOBP_CHLORIDE_TRANSPORT, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM1, GOBP_RESPONSE_TO_OXYGEN_LEVELS, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, KEGG_OLFACTORY_TRANSDUCTION, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS

GO Biological Process (7): proteolysis (GO:0006508), calcium ion transport (GO:0006816), monoatomic ion transmembrane transport (GO:0034220), cellular response to hypoxia (GO:0071456), monoatomic ion transport (GO:0006811), 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 (6): extracellular region (GO:0005576), plasma membrane (GO:0005886), microvillus (GO:0005902), zymogen granule membrane (GO:0042589), membrane (GO:0016020), secretory granule (GO:0030141)

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
metal ion transport	1
monoatomic ion transport	1
transmembrane transport	1
response to hypoxia	1
cellular response to stress	1
cellular response to decreased oxygen levels	1
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
actin filament bundle	1
actin-based cell projection	1
secretory granule membrane	1
zymogen granule	1
endomembrane system	1
secretory vesicle	1

Protein interactions and networks

STRING

1716 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CLCA1	ANO2	Q9NQ90	933
CLCA1	SERPINB2	P05120	900
CLCA1	POSTN	Q15063	898
CLCA1	ANO1	Q5XXA6	876
CLCA1	CFTR	P13569	809
CLCA1	IL13	P35225	788
CLCA1	FKBP5	Q13451	768
CLCA1	FKBP4	Q02790	740
CLCA1	MUC5AC	P98088	720
CLCA1	ZG16	O60844	698
CLCA1	FCGBP	Q9Y6R7	649
CLCA1	ANO6	Q4KMQ2	608
CLCA1	MUC5B	Q9HC84	597
CLCA1	BEST2	Q8NFU1	589
CLCA1	ANO10	Q9NW15	576

IntAct

3 interactions, top by confidence:

A	B	Type	Score
CLCA1	IGHG1	psi-mi:“MI:0915”(physical association)	0.400
CFTR	SNHG32	psi-mi:“MI:0914”(association)	0.350

BioGRID (5): KCNMB1 (Two-hybrid), CLCA1 (Positive Genetic), HIST1H4A (Cross-Linking-MS (XL-MS)), CLCA1 (Cross-Linking-MS (XL-MS)), CLCA1 (Affinity Capture-MS)

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

120 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	100
Likely benign	11
Benign	5

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	Pathogenic

SpliceAI

1526 predictions. Top by Δscore:

Variant	Effect	Δscore
1:86469130:AAAGG:A	donor_loss	1.0000
1:86469131:AAGG:A	donor_loss	1.0000
1:86469132:AGG:A	donor_loss	1.0000
1:86469134:G:GG	donor_gain	1.0000
1:86473413:CCAG:C	acceptor_loss	1.0000
1:86473415:A:AG	acceptor_gain	1.0000
1:86473415:AG:A	acceptor_gain	1.0000
1:86473415:AGG:A	acceptor_loss	1.0000
1:86473416:G:GG	acceptor_gain	1.0000
1:86473416:GG:G	acceptor_gain	1.0000
1:86473416:GGA:G	acceptor_gain	1.0000
1:86473416:GGAC:G	acceptor_gain	1.0000
1:86473416:GGACA:G	acceptor_gain	1.0000
1:86473461:A:T	donor_gain	1.0000
1:86473556:AT:A	donor_gain	1.0000
1:86473556:ATG:A	donor_loss	1.0000
1:86473558:G:GG	donor_gain	1.0000
1:86473558:GT:G	donor_loss	1.0000
1:86473559:T:A	donor_loss	1.0000
1:86473721:A:AG	acceptor_gain	1.0000
1:86473722:A:AG	acceptor_gain	1.0000
1:86473725:TCA:T	acceptor_loss	1.0000
1:86473726:CAGG:C	acceptor_loss	1.0000
1:86473727:A:AG	acceptor_gain	1.0000
1:86473727:AG:A	acceptor_gain	1.0000
1:86473727:AGGCT:A	acceptor_gain	1.0000
1:86473728:G:GC	acceptor_gain	1.0000
1:86473728:GG:G	acceptor_gain	1.0000
1:86473728:GGC:G	acceptor_gain	1.0000
1:86473728:GGCT:G	acceptor_gain	1.0000

AlphaMissense

5997 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:86486616:T:C	F349L	0.993
1:86486618:T:A	F349L	0.993
1:86486618:T:G	F349L	0.993
1:86498775:T:A	W773R	0.993
1:86498775:T:C	W773R	0.993
1:86476468:T:A	W158R	0.990
1:86476468:T:C	W158R	0.990
1:86494196:T:A	W564R	0.989
1:86494196:T:C	W564R	0.989
1:86476483:T:A	W163R	0.988
1:86476483:T:C	W163R	0.988
1:86498770:T:C	L771P	0.987
1:86486746:C:A	A392E	0.983
1:86489039:T:C	L409P	0.983
1:86485352:T:C	F249L	0.982
1:86485354:C:A	F249L	0.982
1:86485354:C:G	F249L	0.982
1:86485406:T:A	C267S	0.982
1:86485407:G:C	C267S	0.982
1:86494198:G:C	W564C	0.982
1:86494198:G:T	W564C	0.982
1:86494383:T:A	V626D	0.981
1:86482314:T:A	C223S	0.980
1:86482315:G:C	C223S	0.980
1:86476485:G:C	W163C	0.979
1:86476485:G:T	W163C	0.979
1:86486733:G:T	G388W	0.979
1:86498734:T:C	L759P	0.979
1:86498777:G:C	W773C	0.979
1:86498777:G:T	W773C	0.979

dbSNP variants (sampled 300 via entrez): RS1000010598 (1:86478028 C>T), RS1000026722 (1:86478856 G>A,T), RS1000092037 (1:86478393 C>T), RS1000097483 (1:86472513 G>A), RS1000182904 (1:86494421 A>G), RS1000201057 (1:86488617 C>G), RS1000231542 (1:86485270 C>A), RS1000389931 (1:86491108 A>G), RS1000396198 (1:86491377 A>G), RS1000463432 (1:86491568 G>T), RS1000515653 (1:86483962 C>A,T), RS1000558818 (1:86477294 G>A), RS1000634341 (1:86490120 T>G), RS1000721614 (1:86489767 A>G), RS1000795412 (1:86489957 G>A,C)

Disease associations

OMIM: gene MIM:603906 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

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

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
ceric oxide	affects cotreatment, increases expression	1
Resveratrol	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation	1
Coal	increases abundance, increases expression	1
Histamine	increases expression	1
Smoke	increases expression, increases abundance	1
Antigens, Dermatophagoides	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.