MUC7

Summary

MUC7 (mucin 7, secreted, HGNC:7518) is a protein-coding gene on chromosome 4q13.3, encoding Mucin-7 (Q8TAX7). May function in a protective capacity by promoting the clearance of bacteria in the oral cavity and aiding in mastication, speech, and swallowing.

This gene encodes a small salivary mucin, which is thought to play a role in facilitating the clearance of bacteria in the oral cavity and to aid in mastication, speech, and swallowing. The central domain of this glycoprotein contains tandem repeats, each composed of 23 amino acids. This antimicrobial protein has antibacterial and antifungal activity. The most common allele contains 6 repeats, and some alleles may be associated with susceptibility to asthma. Alternatively spliced transcript variants with different 5’ UTR, but encoding the same protein, have been found for this gene.

Source: NCBI Gene 4589 — RefSeq curated summary.

At a glance

• Gene–disease (curated): inherited susceptibility to asthma (Limited, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 61 total
• Phenotypes (HPO): 5
• MANE Select transcript: NM_152291

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7518
Approved symbol	MUC7
Name	mucin 7, secreted
Location	4q13.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ27047, MG2
Ensembl gene	ENSG00000171195
Ensembl biotype	protein_coding
OMIM	158375
Entrez	4589

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 4 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000304887, ENST00000413702, ENST00000456088, ENST00000504482, ENST00000505411, ENST00000514512, ENST00000515308

RefSeq mRNA: 3 — MANE Select: NM_152291 NM_001145006, NM_001145007, NM_152291

CCDS: CCDS3541

Canonical transcript exons

ENST00000304887 — 3 exons

Exon	Start	End
ENSE00001906812	70480799	70482997
ENSE00002037812	70472197	70472291
ENSE00003648614	70474007	70474075

Expression profiles

Bgee: expression breadth ubiquitous, 155 present calls, max score 99.66.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 107.0440 / max 91402.5448, expressed in 53 samples.

FANTOM5 promoters (30 alternative TSS)

Promoter ID	TPM avg	Samples expressed
47940	94.2285	29
47950	3.2024	16
47948	2.3539	11
47945	1.2383	12
47944	0.9509	7
47946	0.8207	10
47954	0.6325	16
47949	0.6222	10
47943	0.5401	6
47947	0.3730	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
trachea	UBERON:0003126	99.66	gold quality
parotid gland	UBERON:0001831	98.15	gold quality
saliva-secreting gland	UBERON:0001044	97.30	gold quality
minor salivary gland	UBERON:0001830	96.82	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	95.31	gold quality
mouth mucosa	UBERON:0003729	90.11	gold quality
upper leg skin	UBERON:0004262	89.58	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.82	gold quality
palpebral conjunctiva	UBERON:0001812	85.94	gold quality
nasal cavity mucosa	UBERON:0001826	83.93	gold quality
amniotic fluid	UBERON:0000173	78.13	gold quality
tongue	UBERON:0001723	72.12	gold quality
right lung	UBERON:0002167	70.59	gold quality
skin of leg	UBERON:0001511	68.05	gold quality
superior surface of tongue	UBERON:0007371	67.56	gold quality
zone of skin	UBERON:0000014	66.48	gold quality
body of tongue	UBERON:0011876	65.34	gold quality
skin of abdomen	UBERON:0001416	64.73	gold quality
oral cavity	UBERON:0000167	63.53	gold quality
pharyngeal mucosa	UBERON:0000355	62.69	gold quality
tonsil	UBERON:0002372	62.41	gold quality
adenohypophysis	UBERON:0002196	60.65	gold quality
descending thoracic aorta	UBERON:0002345	60.64	gold quality
adult organism	UBERON:0007023	59.35	gold quality
mucosa of stomach	UBERON:0001199	57.38	gold quality
saphenous vein	UBERON:0007318	54.99	gold quality
mucosa of transverse colon	UBERON:0004991	53.77	gold quality
thymus	UBERON:0002370	53.47	silver quality
skin of hip	UBERON:0001554	52.62	gold quality
lower lobe of lung	UBERON:0008949	52.30	silver quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

75 targeting MUC7, 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-4262	100.00	73.26	3931
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548H-5P	99.94	71.24	3488

Literature-anchored findings (GeneRIF, showing 29)

• Structure and biosynthesis of human salivary mucins. (PMID:11996097)
• Level of MG2 is lower in saliva of subjects with dental disease (PMID:12459324)
• MUC7 is a salivary mucin with antimicrobial activity against bacteria and fungi. (PMID:12543672)
• binds to Streptococcus mutans alpha-enolase [MG2] (PMID:15501816)
• reported as new substrate for StcE protease of Escherichia coli O157-H7 in HEp-2 cells (PMID:15731026)
• Interactions between mucin and non-mucin proteins in saliva could protect complex partners from proteolysis (PMID:16203048)
• When the cells were treated with a panel of cytokines, epidermal growth factor, or a bacterial product (Pseudomonas aeruginosa lipopolysaccharide [LPS]), MUC7 transcripts and glycoprotein products were increased 1.7- to 3.2-fold. (PMID:16514118)
• Data demonstrate that TNF-alpha activates MUC7 transcription via NF-kappaB signaling pathway. (PMID:16778149)
• Reflux laryngitis is associated with down-regulation of mucin gene expression. (PMID:18834073)
• A novel MUC7*5-generated variable number of tandem repeat (VNTR) polymorphism decreases the likelihood of a diagnosis of asthma in an African American population. (PMID:19820409)
• MUC5B and MUC7 from HIV patients, unlike the MUC5B and MUC7 from HIV negative individuals, did not inhibit HIV-1 activity. (PMID:20946627)
• MUC7 expression in ductal adenocarcinoma (DAC) and chronic pancreatitis was not statistically significant, but MUC7 could be considered as potential marker of malignant lesions, especially in pancreatic DAC, as it was positive in 73% of these cases. (PMID:21647207)
• expression of different numbers of terminal repeats in this salivary mucin in the oral environment does not interfere with the etiopathogenesis of aggressive or chronic periodontitis (PMID:22167029)
• The study did not show a correlation between the MUC7 genotypes and caries. (PMID:22706105)
• The present study did not disclose an association between MUC7*5/*6 and MUC7*6/*6 genotypes and gingival bleeding index. (PMID:23002673)
• A significant increase in sulfation was identified in salivary MUC7 from rheumatoid arthritis patients. (PMID:23457413)
• The minimally invasive PTT procedure combined with Mucin 7 targeted GNPs is able to kill cancer cells and preserve healthy cells (PMID:25834826)
• MUC7 glycosylation is altered in recurrent aphthous stomatitis. This may change the protective properties of this mucin against mucosal pathogens, which may effect this condition. (PMID:26051835)
• A capsule-free mutant of S. pneumoniae TIGR4 binds to salivary proteins, most prominently to mucin MUC7, but that this binding was not mediated through PsrP or recognition of sialic acid. (PMID:26172471)
• Results identified a reduction in glycosylation of MUC7 in Sjogren’s primarily due to the loss of the extended core 2 disialylated structure, with and without fucosylation and suggest that MUC7 O-glycan changes in Sjogren’s Syndrome may alter the physical properties of saliva, leading to the symptom of dry mouth. (PMID:26631508)
• The genotypic polymorphisms of IL-1beta -511 and +3954, and of MUC7 VNTR, had no direct associations with the development of BMS. However, the T allele of IL-1beta -511 may increase the risk of BMS by increasing psychological asthenia. (PMID:27246755)
• High expression of MUC7 is associated with clear-cell renal cell carcinoma. (PMID:27683054)
• reduced salivary concentration linked to dental caries (PMID:30745804)
• These data suggest a chemokine driven alteration of MUC7 glycosylation in patients with burning mouth syndrome. (PMID:31414088)
• The comparative inhibitory potency of salivary mucins against human immunodeficiency virus type 1. (PMID:33190061)
• Mucins 5b and 7 and secretory IgA in the oral acquired pellicle of children with caries and caries-free children. (PMID:34861462)
• Streptococcus oralis Employs Multiple Mechanisms of Salivary Mucin Binding That Differ Between Strains. (PMID:35782137)
• MUC7 VNTR polymorphism and association with bronchial asthma in Egyptian children. (PMID:36344553)
• Diagnostic accuracy of MUC7 expression for bladder cancer: A systematic review and meta-analysis. (PMID:37657056)

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Mucin-7 — Q8TAX7 (reviewed: Q8TAX7)

Alternative names: Apo-MG2, Salivary mucin-7

All UniProt accessions (2): D6RHX1, Q8TAX7

UniProt curated annotations — full annotation on UniProt →

Function. May function in a protective capacity by promoting the clearance of bacteria in the oral cavity and aiding in mastication, speech, and swallowing. Binds P.aeruginosa pili.

Subunit / interactions. Monomer. Interacts with ZG16B; this interaction enhances the capture of commensal bacteria and promotes their removal.

Subcellular location. Secreted.

Tissue specificity. Expressed in salivary gland tissues and only in those that contain mucous acinar cells (e.g. sublingual and submandibular glands) and not in salivary glands containing only serous acinar cells (e.g. parotid gland).

Post-translational modifications. N- and O-glycosylated. Contains fucose, mannose, galactose, N-acetylglucosamine and N-acetylgalactosamine.

Disease relevance. Asthma (ASTHMA) [MIM:600807] The most common chronic disease affecting children and young adults. It is a complex genetic disorder with a heterogeneous phenotype, largely attributed to the interactions among many genes and between these genes and the environment. It is characterized by recurrent attacks of paroxysmal dyspnea, with wheezing due to spasmodic contraction of the bronchi. Disease susceptibility is associated with variants affecting the gene represented in this entry.

Polymorphism. The most common allele, MUC76, contains a tandem repeat domain comprising 6 repeats (shown here) each composed of 23 amino acids. These repeats are very similar but not identical. In a large cohort of 375 individuals from a variety of ethnic backgrounds, three different alleles were detected, MUC76 being the most common, in all populations studied, followed by MUC75 (5 repeats), with frequency varying from 0.05 in Africans to 0.22 in East Asians. The MUC75 allele is less prevalent in patients with asthma than in controls, and seems to have a protective role in respiratory function. MUC7*8 (8 repeats), a novel rare allele, was identified in 1 Northern European individual.

RefSeq proteins (3): NP_001138478, NP_001138479, NP_689504* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR033529	MUC7	Family

UniProt features (32 total): glycosylation site 9, compositionally biased region 8, repeat 6, sequence conflict 4, region of interest 2, signal peptide 1, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TAX7-F1	55.60	0.05

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (9): 97, 128, 135, 146, 176, 182, 183, 188, 189

Function

Pathways and Gene Ontology

Reactome pathways

16 pathways

ID	Pathway
R-HSA-5083625	Defective GALNT3 causes HFTC
R-HSA-5083632	Defective C1GALT1C1 causes TNPS
R-HSA-5083636	Defective GALNT12 causes CRCS1
R-HSA-5621480	Dectin-2 family
R-HSA-913709	O-linked glycosylation of mucins
R-HSA-977068	Termination of O-glycan biosynthesis
R-HSA-1643685	Disease
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-3781865	Diseases of glycosylation
R-HSA-3906995	Diseases associated with O-glycosylation of proteins
R-HSA-392499	Metabolism of proteins
R-HSA-5173105	O-linked glycosylation
R-HSA-5621481	C-type lectin receptors (CLRs)
R-HSA-5668914	Diseases of metabolism
R-HSA-597592	Post-translational protein modification

MSigDB gene sets: 74 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_DN, BROWNE_HCMV_INFECTION_4HR_UP, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, chr4q13, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_HUMORAL_IMMUNE_RESPONSE, MORF_RAB3A, BROWNE_HCMV_INFECTION_10HR_UP, GOBP_CELL_KILLING, GOCC_GOLGI_LUMEN, REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_ANTIMICROBIAL_HUMORAL_IMMUNE_RESPONSE_MEDIATED_BY_ANTIMICROBIAL_PEPTIDE, REACTOME_DISEASES_OF_GLYCOSYLATION, REACTOME_DISEASES_ASSOCIATED_WITH_O_GLYCOSYLATION_OF_PROTEINS

GO Biological Process (2): killing of cells of another organism (GO:0031640), antimicrobial humoral immune response mediated by antimicrobial peptide (GO:0061844)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (4): Golgi lumen (GO:0005796), plasma membrane (GO:0005886), extracellular exosome (GO:0070062), extracellular region (GO:0005576)

Reactome top-level categories

Rollup of top-11 pathways:

Category	Pathways
Diseases associated with O-glycosylation of proteins	3
C-type lectin receptors (CLRs)	1
O-linked glycosylation	1
O-linked glycosylation of mucins	1
Immune System	1
Diseases of metabolism	1
Diseases of glycosylation	1
Post-translational protein modification	1
Innate Immune System	1
Disease	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell killing	1
disruption of cell in another organism	1
antimicrobial humoral response	1
binding	1
Golgi apparatus	1
intracellular organelle lumen	1
membrane	1
cell periphery	1
extracellular vesicle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

886 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MUC7	MUC5B	Q9HC84	942
MUC7	MUC2	Q02817	933
MUC7	MUC1	P13931	928
MUC7	HTN1	P15515	919
MUC7	MUC5AC	P98088	912
MUC7	STATH	P02808	911
MUC7	MUC6	Q6W4X9	896
MUC7	MUC13	Q9H3R2	881
MUC7	MUC3A	Q02505	820
MUC7	LTF	P02788	818
MUC7	HTN3	P15516	804
MUC7	GALNT14	Q96FL9	803
MUC7	MUC4	Q99102	798
MUC7	MUC12	Q9UKN1	797
MUC7	MUC15	Q8N387	774

IntAct

46 interactions, top by confidence:

A	B	Type	Score
FRMD1	A2ML1	psi-mi:“MI:0914”(association)	0.530
UCP2	CST4	psi-mi:“MI:0914”(association)	0.530
GTF2B	CST4	psi-mi:“MI:0914”(association)	0.530
ZNF491	CST4	psi-mi:“MI:0914”(association)	0.530
GKN1	CST4	psi-mi:“MI:0914”(association)	0.530
KIR2DS2	RHOBTB3	psi-mi:“MI:0914”(association)	0.530
NPB	CST4	psi-mi:“MI:0914”(association)	0.530
SCAMP2	SCAMP3	psi-mi:“MI:0914”(association)	0.530
MUC7	AMY1A	psi-mi:“MI:0915”(physical association)	0.510
PRH1	MUC7	psi-mi:“MI:0915”(physical association)	0.510
HTN1	MUC7	psi-mi:“MI:0915”(physical association)	0.510
MUC7	STATH	psi-mi:“MI:0915”(physical association)	0.510
STATH	MUC7	psi-mi:“MI:0915”(physical association)	0.510
PCGF1	MUC7	psi-mi:“MI:0915”(physical association)	0.490
MUC7	PCGF1	psi-mi:“MI:0915”(physical association)	0.490
HTN3	MUC7	psi-mi:“MI:0915”(physical association)	0.400
MUC7	SMR3B	psi-mi:“MI:0915”(physical association)	0.370
MUC7	PRR4	psi-mi:“MI:0915”(physical association)	0.370
PRDX3	MUC7	psi-mi:“MI:0915”(physical association)	0.370
MUC7	LAMA5	psi-mi:“MI:0915”(physical association)	0.370
MUC7	PFN2	psi-mi:“MI:0915”(physical association)	0.370
NPB	IL16	psi-mi:“MI:0914”(association)	0.350
RCAN2	HSBP1	psi-mi:“MI:0914”(association)	0.350

BioGRID (41): MUC7 (Affinity Capture-MS), MUC7 (Affinity Capture-MS), MUC7 (Affinity Capture-MS), MUC7 (Affinity Capture-MS), MUC7 (Affinity Capture-MS), MUC7 (Affinity Capture-MS), MUC7 (Affinity Capture-MS), MUC7 (Affinity Capture-MS), MUC7 (Affinity Capture-MS), MUC7 (Affinity Capture-MS), MUC7 (Affinity Capture-MS), MUC7 (Affinity Capture-MS), MUC7 (Affinity Capture-MS), MUC7 (Affinity Capture-MS), MUC7 (Affinity Capture-MS)

ESM2 similar proteins: A0A396JU32, C1PGW1, O09116, O48809, O65375, P04474, P06600, P08012, P08297, P10164, P10387, P11728, P13983, P13993, P15642, P16329, P20799, P24152, P30365, P80760, Q00451, Q00665, Q01443, Q03211, Q06841, Q3V4U7, Q40339, Q40357, Q40361, Q41701, Q5HY64, Q62266, Q62267, Q63532, Q8TAX7, Q9FEW3, Q9FI79, Q9FZ35, Q9FZA2, Q9JM99

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	52
Likely benign	7
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

451 predictions. Top by Δscore:

Variant	Effect	Δscore
4:70430686:AGGTA:A	donor_loss	1.0000
4:70472206:T:A	acceptor_loss	1.0000
4:70472206:T:TA	acceptor_gain	1.0000
4:70472210:TCTA:T	acceptor_loss	1.0000
4:70472213:A:AG	acceptor_gain	1.0000
4:70472213:AGTT:A	acceptor_loss	1.0000
4:70472214:G:GG	acceptor_gain	1.0000
4:70472214:GT:G	acceptor_gain	1.0000
4:70472214:GTT:G	acceptor_gain	1.0000
4:70472214:GTTA:G	acceptor_gain	1.0000
4:70472214:GTTAC:G	acceptor_gain	1.0000
4:70472288:CCAGG:C	donor_loss	1.0000
4:70472292:G:GA	donor_loss	1.0000
4:70472292:G:GG	donor_gain	1.0000
4:70473995:T:A	acceptor_gain	1.0000
4:70474003:CCA:C	acceptor_loss	1.0000
4:70474005:A:AC	acceptor_loss	1.0000
4:70474005:A:AG	acceptor_gain	1.0000
4:70474006:G:GG	acceptor_gain	1.0000
4:70474006:G:T	acceptor_loss	1.0000
4:70474006:GGA:G	acceptor_gain	1.0000
4:70474071:TCTCG:T	donor_gain	1.0000
4:70474073:TCGGT:T	donor_loss	1.0000
4:70474074:CG:C	donor_gain	1.0000
4:70474074:CGG:C	donor_loss	1.0000
4:70474075:GG:G	donor_gain	1.0000
4:70474076:G:GG	donor_gain	1.0000
4:70474076:GTA:G	donor_loss	1.0000
4:70474077:T:A	donor_loss	1.0000
4:70480797:A:AG	acceptor_gain	1.0000

AlphaMissense

2367 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:70474061:A:C	S14R	0.990
4:70474063:T:A	S14R	0.990
4:70474063:T:G	S14R	0.990
4:70474052:T:C	C11R	0.988
4:70474046:T:C	C9R	0.986
4:70474056:C:A	A12E	0.976
4:70474067:T:C	C16R	0.973
4:70481841:T:C	L366P	0.968
4:70474050:T:A	I10N	0.966
4:70474070:T:C	F17L	0.965
4:70474072:C:A	F17L	0.965
4:70474072:C:G	F17L	0.965
4:70474044:T:A	V8E	0.964
4:70474065:C:A	A15D	0.963
4:70474059:T:C	L13P	0.957
4:70474055:G:C	A12P	0.952
4:70474064:G:C	A15P	0.942
4:70481844:T:C	L367P	0.941
4:70481819:T:C	F359L	0.938
4:70481821:T:A	F359L	0.938
4:70481821:T:G	F359L	0.938
4:70474059:T:G	L13R	0.937
4:70474059:T:A	L13Q	0.934
4:70474053:G:A	C11Y	0.927
4:70474050:T:G	I10S	0.921
4:70474054:T:G	C11W	0.921
4:70481820:T:C	F359S	0.917
4:70481823:T:C	L360P	0.916
4:70480994:T:C	F84L	0.914
4:70480996:C:A	F84L	0.914

dbSNP variants (sampled 300 via entrez): RS1000036887 (4:70477366 T>C), RS1000070932 (4:70451896 C>A), RS1000092737 (4:70477706 G>A,C,T), RS1000143467 (4:70471550 A>G), RS1000170760 (4:70444455 A>C), RS1000201885 (4:70444771 G>A), RS1000321562 (4:70437917 G>T), RS10003641 (4:70474710 T>C), RS1000365995 (4:70428955 C>G,T), RS1000378715 (4:70450662 G>A), RS1000389055 (4:70445972 C>A,T), RS1000418638 (4:70438377 C>G,T), RS1000440732 (4:70440087 C>T), RS1000466351 (4:70458116 T>C), RS1000503661 (4:70482128 C>G)

Disease associations

OMIM: gene MIM:158375 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
inherited susceptibility to asthma	Limited	Autosomal dominant

Mondo (1): inherited susceptibility to asthma (MONDO:0010940)

Orphanet (0):

HPO phenotypes

5 total (5 of 5 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0001426	Non-Mendelian inheritance
HP:0002099	Asthma
HP:0032933	Airway hyperresponsiveness
HP:4000007	Bronchoconstriction

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST009278_2	Diabetic nephropathy in type 1 diabetes	1.000000e-08

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Nickel	decreases expression	2
sodium arsenite	increases expression	1
2-palmitoylglycerol	increases expression	1
Benzo(a)pyrene	decreases methylation, increases methylation	1
Cadmium	decreases expression	1
Hydralazine	affects cotreatment, increases expression	1
Valproic Acid	increases expression, affects cotreatment	1

Clinical trials (associated diseases)

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