DEFB4A

Summary

DEFB4A (defensin beta 4A, HGNC:2767) is a protein-coding gene on chromosome 8p23.1, encoding Defensin beta 4A (O15263). Exhibits antimicrobial activity against Gram-negative bacteria and Gram-positive bacteria, with highest activity against Gram-negative bacteria. It is a selective cancer dependency (DepMap: 40.0% of cell lines).

Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 4, an antibiotic peptide which is locally regulated by inflammation.

Source: NCBI Gene 1673 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 8 total — 1 pathogenic
• Cancer dependency (DepMap): dependent in 40.0% of screened cell lines
• MANE Select transcript: NM_004942

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2767
Approved symbol	DEFB4A
Name	defensin beta 4A
Location	8p23.1
Locus type	gene with protein product
Status	Approved
Aliases	SAP1, HBD-2, DEFB-2
Ensembl gene	ENSG00000171711
Ensembl biotype	protein_coding
OMIM	602215
Entrez	1673

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000302247

RefSeq mRNA: 1 — MANE Select: NM_004942 NM_004942

CCDS: CCDS5971

Canonical transcript exons

ENST00000302247 — 2 exons

Exon	Start	End
ENSE00001681311	7894677	7894770
ENSE00001748727	7896474	7896716

Expression profiles

Bgee: expression breadth broad, 75 present calls, max score 76.24.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0520 / max 47.4458, expressed in 11 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
87268	0.0520	11

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of stomach	UBERON:0001199	76.24	gold quality
esophagus mucosa	UBERON:0002469	73.38	gold quality
gall bladder	UBERON:0002110	66.18	gold quality
lower esophagus mucosa	UBERON:0035834	59.42	gold quality
tonsil	UBERON:0002372	54.98	gold quality
esophagus	UBERON:0001043	51.67	gold quality
vagina	UBERON:0000996	49.87	gold quality
upper lobe of left lung	UBERON:0008952	47.78	gold quality
vermiform appendix	UBERON:0001154	47.48	gold quality
minor salivary gland	UBERON:0001830	44.36	gold quality
islet of Langerhans	UBERON:0000006	44.19	gold quality
saliva-secreting gland	UBERON:0001044	43.00	gold quality
lung	UBERON:0002048	42.98	gold quality
body of stomach	UBERON:0001161	42.86	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	41.89	gold quality
stomach	UBERON:0000945	41.06	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
endometrium	UBERON:0001295	35.42	gold quality
muscle tissue	UBERON:0002385	34.66	gold quality
skin of leg	UBERON:0001511	34.38	gold quality
right uterine tube	UBERON:0001302	34.12	gold quality
zone of skin	UBERON:0000014	33.86	gold quality
descending thoracic aorta	UBERON:0002345	33.56	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
skin of abdomen	UBERON:0001416	33.16	gold quality
pancreas	UBERON:0001264	32.80	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	12.29

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AP1, CEBPB, EGR1, EGR2, ELF4, ETS1, IRF6, JUN, NFKB1, NFKB, NFKBIZ, NR3C1, RELA, STAT1, VDR

miRNA regulators (miRDB)

5 targeting DEFB4A, 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-659-3P	99.85	70.69	1620
HSA-MIR-5002-5P	99.76	70.84	1763
HSA-MIR-593-3P	99.22	67.28	1327
HSA-MIR-4520-2-3P	99.14	69.28	1009
HSA-MIR-299-5P	98.56	71.14	1140

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 40.0% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 40)

• The encoded peptide displays antibacterial activity against Gram-negative but not Gram-positive bacteria, including P. aeruginosa and E. coli. In addition, this peptide is active against C. albicans. (PMID:10404637)
• expression increased by FliC of Salmonella enteritidis (PMID:11728477)
• HBD-3 is a dimer, while HBD-1 and HBD-2 are monomeric. Subsequently, the NMR solution structures of HBD1 and HBD3 were determined using standard homonuclear techniques and compared with the previously determined solution structure of HBD2 (PMID:11741980)
• the involvement of mitogen-activated protein kinase pathways in beta-defensin-2 gene transcription in gingival epithelial cells (PMID:11751976)
• may participate in the recruitment of mast cells to inflammation foci (PMID:11934878)
• Activation of a Src-dependent Raf-MEK1/2-ERK signaling pathway is required for IL-1alpha-induced upregulation of beta-defensin 2 in human middle ear epithelial cells. (PMID:12063167)
• High concentration in oral squamous cell carcinoma (PMID:12174890)
• Nontypeable Haemophilus influenzae (NTHI) lipooligosaccharide htrB mutants exhibited greater than 45-fold-increased sensitivity to human beta-defensin 2 (HBD-2) compared to the wild type. (PMID:12183584)
• Proximal and distal RTC showed constitutive expression of human beta-defensin 1 and human beta-defensin. (PMID:12381917)
• Upregulation of human beta-defensin 2 peptide expression in oral lichen planus, leukoplakia and candidiasis. Not a strong chemotactic attractant for Langerhans cells in pathological conditions of oral epithelium. (PMID:12389997)
• dexamethasone inhibitis hbd-2 gene expression. both NF-kappa beta and AP-1 transcription factors are essential for hbd-2 gene expression (PMID:12421237)
• Expression of human beta-defensin-2 (hBD-2) in various gastric mucosal tissues and MKN45 gastric cancer cells with or without H. pylori; hBD-2 may be involved in the pathophysiology of H. pylori-induced gastritis (PMID:12488564)
• Human tumor cells carrying HBD-2 were implanted sc into NOD/SDCID mice to allow tumor formation. E. coli was then injected into each tumor. Homogenized tumors were analyzed for cfu and found to have enhanced antimicrobial activity. (PMID:12489997)
• Induction of betaD-2 but relative tolerance to it may enable S. epidermidis to survive on the skin surface, whereas lack of stimulation of betaD-2 expression by S. pyogenes may be important in its ability to evade innate defenses and cause skin disease. (PMID:12522054)
• present in newborn skin; cathelicidin (LL-37/hCAP/18) and beta-defensin-2 demonstrated synergistic antimicrobial activity and efficiently killed group B Streptococcus, an important neonatal pathogen (PMID:12612195)
• In human epidermis, HBD-2 protein is packaged in lamellar bodies. (PMID:12710950)
• MIP-3alpha and BD-2 have the ability to stimulate odontoblast differentiation in addition to their more traditional role in inflammation (PMID:12821122)
• upregulation by neutrophil elastase in bronchial epithelial cells (PMID:12832046)
• human endometrium expresses both HBD3 and HBD4 in a cycle-dependent manner; these natural antimicrobials will contribute to innate defences present in human endometrium protecting against uterine infection (PMID:12892899)
• Toll-like receptor 2 mediates hBD2 gene induction through NF-kappaB in lung epithelial cells. (PMID:12958190)
• results indicate that commensal and pathogenic bacteria utilize different pathways in hBD-2 induction (PMID:14688115)
• the level of expression of hBD-1 mRNA is lower and that of hBD-3 was higher than that of hBD-2 in reconstructed epidermis (PMID:14703118)
• Calcium triggers beta-defensin (hBD-2 and hBD-3) and chemokine macrophage inflammatory protein-3 alpha (MIP-3alpha/CCL20) expression in monolayers of activated human keratinocytes (PMID:14714554)
• endogenous PGE2 is involved in the hBD-2 and E-cadherin responses of human gingival epithelial cells to A. actinomycetemcomitans. hBD-2 mRNA was induced by A. actinomycetemcomitans (PMID:14760942)
• beta-defensins are integral components of innate host defenses playing an essential part in the resistance of the human skin surfaces against M. furfur uptake and other microbial invasion. (PMID:14963722)
• HBD-2 may lead to the death of normal keratinocytes adjacent to the squamous cell carcinomas, which might, in turn, indirectly assist in the multiplication of tumor cells. (PMID:14981906)
• Aerobic bacteria were 100% susceptible to HBD-2 and HBD-3, whereas only 21.4 and 50% of the anaerobes were susceptible to HBD-2 and HBD-3. (PMID:15004048)
• MEF activated HBD2 promoter activity, and increased the endogenous HBD2 transcription level. The activated HBD2 promoter activity was attenuated by the antisense MEF RNA input and the loss of the ETS binding site in the HBD2 promoter (PMID:15013761)
• Malignant transformation induces alteration of hBD-2 expression and leads to a reduced hBD-2 expression and subsequentially to Candida colonization on oral squamous cell carcinoma. (PMID:15161058)
• Together, these results suggest that IL-1beta induces HBD-2 mRNA expression in A549 cells, and the induction seems to be at least in part mediated through activation of signaling proteins PKC, p38 MAPK, JNK, and PI3K, but not ERK. (PMID:15240151)
• in the intrahepatic biliary tree, hBD-2 is expressed in response to local infection and/or active inflammation, whereas hBD-1 may constitute a preexisting component of the biliary antimicrobial defense system. (PMID:15382127)
• probiotic bacteria may stimulate the intestinal innate defense through the upregulation of inducible antimicrobial peptides such as hBD-2 (PMID:15385474)
• The bronchoalveolar lavage HBD2 concentrations were significantly elevated in bronchiolitis obliterans syndrome. HBD2 did not increase in histologically quiescent lung allografts. (PMID:15502724)
• The expression of HBD-2 in microbicidal doses suggests that antimicrobial peptides may contribute to host defense mechanisms in articular joints. (PMID:15529375)
• data suggested that in addition to being antimicrobial peptides, HBD-2 may also have a pathophysiological role as proinflammatory mediators (PMID:15547668)
• HBD-2 is the most prevalent beta-defensin in human lung cultures and neonatal tissues. (PMID:15661923)
• DEFB4 gene is duplicated on human chromosome 8p. (PMID:15727258)
• The expression of HBD-2 and two other beta-defensins was correlated with induction profiles in gingival keratinocytes. (PMID:15829297)
• results suggest that the two NF-(kappa)B binding sites contribute to LPS-mediated hBD-2 transcription while the NF-IL6 binding site represses LPS-independent hBD-2 transcription in HeLa cells (PMID:15985221)
• Human beta defensin-2 and -4 activate normal human keratinocytes to secrete IL-18 (PMID:16034119)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Defb3	ENSMUSG00000039775
mus_musculus	Defb4	ENSMUSG00000059230
rattus_norvegicus	Defb4	ENSRNOG00000013939
rattus_norvegicus	Defb3	ENSRNOG00000038126

Paralogs (6): DEFB4B (ENSG00000177257), DEFB109C (ENSG00000205989), DEFB109B (ENSG00000206034), DEFB130A (ENSG00000232948), DEFB130B (ENSG00000233050), DEFB109D (ENSG00000254866)

Protein

Protein identifiers

Defensin beta 4A — O15263 (reviewed: O15263)

Alternative names: Beta-defensin 2, Defensin, beta 2, Skin-antimicrobial peptide 1

All UniProt accessions (1): O15263

UniProt curated annotations — full annotation on UniProt →

Function. Exhibits antimicrobial activity against Gram-negative bacteria and Gram-positive bacteria, with highest activity against Gram-negative bacteria. Antimicrobial activity against P.aruginosa seems to be salt-sensitive and is reduced with high salt concentrations greater than 25 mM. Also exhibits antimicrobial activity against the yeast C.albicans. Permeabilizes C.albicans cell membranes via targeting plasma membrane lipid phosphatidylinositol 4,5-bisphosphate (PIP2), thereby leading to cell fragmentation and cell death. Acts as a ligand for C-C chemokine receptor CCR6. Binds to CCR6 and induces chemotactic activity of CCR6-expressing cells, such as immature dendritic cells and memory T cells.

Subunit / interactions. Monomer. Homodimer.

Subcellular location. Secreted.

Tissue specificity. Expressed in lung epithelial cells (at protein level). Expressed in foreskin, lung and trachea. Lower expression in kidney, uterus and salivary gland tissue. Expressed in epithelial cells of the respiratory tract, with higher expression in distal parenchyma of the lung, trachea, and tonsils, and lower expression in pharynx and adenoid, and low expression in tongue and larynx.

Induction. Up-regulated by TNF, IL1B, Gram-negative and Gram-positive bacteria, C.albicans and bacterial lipopolysaccharides (LPS). Up-regulated by inflammation in skin keratinocytes in epidermal tissue.

Similarity. Belongs to the beta-defensin family. LAP/TAP subfamily.

RefSeq proteins (1): NP_004933* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001855	Defensin_beta-like	Domain
IPR006080	Beta/alpha-defensin_C	Domain

Pfam: PF00711

UniProt features (18 total): mutagenesis site 6, strand 5, disulfide bond 3, signal peptide 1, peptide 1, helix 1, region of interest 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
1FD3	X-RAY DIFFRACTION	1.35
1FD4	X-RAY DIFFRACTION	1.7
6CS9	X-RAY DIFFRACTION	1.85
1E4Q	SOLUTION NMR
1FQQ	SOLUTION NMR
8YD6	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O15263-F1	78.53	0.00

Functional residue map

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

Disulfide bonds (3): 31–60, 38–53, 43–61

Mutagenesis-validated functional residues (6):

Position	Phenotype
48	loss of pip2 binding and reduced liposomal lysis activity. impaired antifungal activity. decrease in fungal cell permeab
59	no impact on pip binding and liposomal lysis activity. lack of antifungal activity. lack of fungal cell permeabilization
33	loss of pip2 binding and loss of liposomal lysis activity. decrease in fungal cell permeabilization. impaired antifungal
45	loss of pip2 binding and loss of liposomal lysis activity. decrease in fungal cell permeabilization. impaired antifungal
46	no impact on fungal cell permeabilization. impaired antifungal activity.
47	no impact on fungal cell permeabilization. no impact on antifungal activity.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-1461957	Beta defensins
R-HSA-1461973	Defensins

MSigDB gene sets: 102 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, GOBP_CELL_CHEMOTAXIS, ZHAN_MULTIPLE_MYELOMA_MF_UP, MODULE_70, GOBP_TAXIS, MODULE_75, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, MODULE_289, WU_ALZHEIMER_DISEASE_DN, GOBP_HUMORAL_IMMUNE_RESPONSE, GOBP_DEFENSE_RESPONSE_TO_GRAM_NEGATIVE_BACTERIUM, GOBP_DEFENSE_RESPONSE_TO_GRAM_POSITIVE_BACTERIUM, AFFAR_YY1_TARGETS_DN, GOMF_G_PROTEIN_COUPLED_RECEPTOR_BINDING

GO Biological Process (14): chemotaxis (GO:0006935), immune response (GO:0006955), G protein-coupled receptor signaling pathway (GO:0007186), killing of cells of another organism (GO:0031640), defense response to bacterium (GO:0042742), defense response to Gram-negative bacterium (GO:0050829), defense response to Gram-positive bacterium (GO:0050830), defense response to fungus (GO:0050832), cell chemotaxis (GO:0060326), antifungal innate immune response (GO:0061760), antimicrobial humoral immune response mediated by antimicrobial peptide (GO:0061844), defense response (GO:0006952), positive chemotaxis (GO:0050918), defense response to symbiont (GO:0140546)

GO Molecular Function (4): phosphatidylinositol-4,5-bisphosphate binding (GO:0005546), CCR6 chemokine receptor binding (GO:0031731), chemoattractant activity (GO:0042056), protein binding (GO:0005515)

GO Cellular Component (3): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), Golgi lumen (GO:0005796)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Defensins	1
Antimicrobial peptides	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
defense response	2
defense response to bacterium	2
chemotaxis	2
response to chemical	1
taxis	1
immune system process	1
response to stimulus	1
G protein-coupled receptor activity	1
signal transduction	1
cell killing	1
disruption of cell in another organism	1
response to bacterium	1
response to fungus	1
cell migration	1
cellular response to chemical stimulus	1
innate immune response	1
defense response to fungus	1
antimicrobial humoral response	1
response to stress	1
defense response to other organism	1
phosphatidylinositol phosphate binding	1
phosphatidylinositol bisphosphate binding	1
CCR chemokine receptor binding	1
receptor ligand activity	1
positive chemotaxis	1
binding	1
cellular anatomical structure	1
Golgi apparatus	1
intracellular organelle lumen	1

Protein interactions and networks

STRING

1048 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DEFB4A	CCR6	P51684	995
DEFB4A	CCRL2	O00421	994
DEFB4A	TLR4	O00206	986
DEFB4A	DEFB1	P60022	980
DEFB4A	CAMP	P49913	921
DEFB4A	CCR2	P41597	910
DEFB4A	DEFB104A	Q8WTQ1	909
DEFB4A	S100A7	P31151	889
DEFB4A	DEFA1	P11479	884
DEFB4A	DEFA5	Q01523	820
DEFB4A	DEFA1	P11479	796
DEFB4A	A0A0G2JN59	A0A0G2JN59	784
DEFB4A	RNASE7	P80927	782
DEFB4A	DEFA6	Q01524	774
DEFB4A	TLR2	O60603	758

IntAct

3 interactions, top by confidence:

A	B	Type	Score
DEFB4A	ZMPSTE24	psi-mi:“MI:0915”(physical association)	0.590

BioGRID (5): DEFB4A (Affinity Capture-Western), DEFB4A (Reconstituted Complex), ZMPSTE24 (Affinity Capture-MS), DEFB4A (Co-crystal Structure), ZMPSTE24 (Affinity Capture-MS)

ESM2 similar proteins: A0A7G6KN55, A3RJ36, A4H1Z9, A4H200, A4H202, A4H203, A4H204, O02775, O15263, O19038, O19039, O62697, O88514, O89117, O97946, P0C8A6, P0C8A7, P25068, P46156, P46157, P46161, P46162, P46163, P46165, P46167, P46168, P46169, P56386, P80391, P81534, P82019, P83943, Q0E4V3, Q28880, Q32ZH7, Q32ZI0, Q32ZI3, Q32ZI4, Q6IV23, Q6IV26

Diamond homologs: A3RJ36, A4H200, O02775, O15263, O18815, O19038, O19039, O62697, O88514, O97946, P25068, P46159, P46160, P46161, P46162, P46163, P46164, P46165, P46166, P46167, P46168, P46169, P46170, P46171, P81534, P83943, P85150, Q0W9P9, Q28880, Q32ZI3, Q32ZI4, Q6QLR1, Q91V70, Q91V82, Q91VD6, Q95JD2, Q9BDS9, Q9TT12, Q9WTL0, A4H1Z9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	6
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	Pathogenic

SpliceAI

99 predictions. Top by Δscore:

Variant	Effect	Δscore
8:7894767:CCAG:C	donor_loss	0.9900
8:7894769:AGGT:A	donor_loss	0.9900
8:7894772:T:G	donor_loss	0.9900
8:7896472:A:G	acceptor_loss	0.9900
8:7896472:A:AG	acceptor_gain	0.9800
8:7896472:AGGT:A	acceptor_gain	0.9800
8:7896473:G:GG	acceptor_gain	0.9800
8:7896473:GGT:G	acceptor_gain	0.9800
8:7896473:GGTG:G	acceptor_gain	0.9800
8:7896468:TGTTA:T	acceptor_gain	0.9600
8:7896469:GTTAG:G	acceptor_gain	0.9600
8:7896470:TTAGG:T	acceptor_gain	0.9600
8:7896471:TAG:T	acceptor_gain	0.9600
8:7896472:AG:A	acceptor_gain	0.9600
8:7896472:AGG:A	acceptor_gain	0.9600
8:7896473:GG:G	acceptor_gain	0.9600
8:7896473:G:T	acceptor_gain	0.9500
8:7896468:T:TA	acceptor_gain	0.9400
8:7896473:GGTGT:G	acceptor_gain	0.9400
8:7894771:G:GG	donor_gain	0.9000
8:7895158:A:G	donor_gain	0.8900
8:7895150:GTTT:G	donor_gain	0.8700
8:7894720:TC:T	donor_gain	0.8400
8:7896455:T:TA	acceptor_gain	0.8300
8:7894692:TG:T	donor_gain	0.7800
8:7895215:T:G	donor_gain	0.7800
8:7895147:GTA:G	donor_gain	0.7700
8:7895223:C:G	donor_gain	0.7700
8:7896141:T:TA	acceptor_gain	0.7600
8:7896457:T:TA	acceptor_gain	0.7500

AlphaMissense

413 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:7896566:G:T	G51C	0.982
8:7896527:T:A	C38S	0.970
8:7896528:G:C	C38S	0.970
8:7896593:T:A	C60S	0.966
8:7896594:G:C	C60S	0.966
8:7896506:T:A	C31S	0.964
8:7896507:G:C	C31S	0.964
8:7896596:T:A	C61S	0.963
8:7896597:G:C	C61S	0.963
8:7896573:G:A	C53Y	0.959
8:7896572:T:A	C53S	0.958
8:7896573:G:C	C53S	0.958
8:7896528:G:A	C38Y	0.956
8:7896507:G:A	C31Y	0.955
8:7896508:C:G	C31W	0.954
8:7896506:T:C	C31R	0.947
8:7896527:T:C	C38R	0.947
8:7896542:T:A	C43S	0.945
8:7896543:G:C	C43S	0.945
8:7896567:G:T	G51V	0.943
8:7896593:T:C	C60R	0.942
8:7896597:G:A	C61Y	0.941
8:7896572:T:C	C53R	0.939
8:7896573:G:T	C53F	0.939
8:7896543:G:A	C43Y	0.938
8:7896542:T:C	C43R	0.937
8:7896507:G:T	C31F	0.932
8:7896595:C:G	C60W	0.932
8:7896528:G:T	C38F	0.927
8:7896544:C:G	C43W	0.923

dbSNP variants (sampled 300 via entrez): RS1001216156 (8:7894039 G>A), RS1001248955 (8:7894898 C>T), RS1005780999 (8:7895050 T>C,G), RS1005815140 (8:7896809 G>A), RS1011403267 (8:7893646 C>G), RS1018454619 (8:7895175 C>A), RS1018572363 (8:7896917 C>T), RS1030216883 (8:7897087 G>T), RS1035335206 (8:7892807 AT>A), RS1035769229 (8:7894086 G>A), RS1041078285 (8:7893445 A>C), RS1042889764 (8:7894852 A>G,T), RS1042922620 (8:7895631 A>G), RS1046743101 (8:7896656 C>T), RS1052861417 (8:7894825 G>A)

Disease associations

OMIM: gene MIM:602215 | 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: no

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
Tobacco Smoke Pollution	affects cotreatment, decreases reaction, decreases secretion, increases expression, decreases expression	4
Ceftaroline	decreases expression, decreases reaction, increases expression, affects cotreatment, decreases secretion	2
Air Pollutants	affects expression, increases abundance, decreases expression	2
Lipopolysaccharides	increases expression, increases reaction, affects cotreatment, decreases reaction	2
4-(4-fluorophenyl)-2-(4-hydroxyphenyl)-5-(4-pyridyl)imidazole	decreases expression	1
bisphenol S	affects cotreatment, decreases expression	1
Resveratrol	increases activity, increases expression	1
Acetylcysteine	decreases expression	1
Cadmium	decreases expression, increases abundance	1
Dexamethasone	affects cotreatment, decreases expression	1
Estradiol	increases reaction, affects cotreatment, increases expression	1
Glutathione	decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Nickel	increases expression	1
Niacinamide	decreases activity, decreases expression	1
Progesterone	increases expression, decreases reaction	1
Smoke	decreases expression, increases abundance	1
Tetradecanoylphorbol Acetate	affects cotreatment, decreases reaction, decreases secretion	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
Cadmium Chloride	decreases expression, increases abundance	1
Particulate Matter	affects expression, increases abundance	1

Clinical trials (associated diseases)

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