DEFA3

Summary

DEFA3 (defensin alpha 3, HGNC:2762) is a protein-coding gene on chromosome 8p23.1, encoding Neutrophil defensin 3 (P59666). Effector molecule of the innate immune system that acts via antibiotic-like properties against a broad array of infectious agents including bacteria, fungi, and viruses.

Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. The protein encoded by this gene, defensin, alpha 3, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 1 by only one amino acid. This gene and the gene encoding defensin, alpha 1 are both subject to copy number variation.

Source: NCBI Gene 1668 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 21 total
• MANE Select transcript: NM_005217

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2762
Approved symbol	DEFA3
Name	defensin alpha 3
Location	8p23.1
Locus type	gene with protein product
Status	Approved
Aliases	HNP-3
Ensembl gene	ENSG00000239839
Ensembl biotype	protein_coding
OMIM	604522
Entrez	1668

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000327857, ENST00000867396, ENST00000960561

RefSeq mRNA: 1 — MANE Select: NM_005217 NM_005217

CCDS: CCDS5962

Canonical transcript exons

ENST00000327857 — 3 exons

Exon	Start	End
ENSE00001306731	7015869	7016099
ENSE00001493010	7018222	7018297
ENSE00001719742	7016676	7016862

Expression profiles

Bgee: expression breadth ubiquitous, 116 present calls, max score 99.84.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1411 / max 75.7651, expressed in 24 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
91719	0.1411	24

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bone marrow	UBERON:0002371	99.84	gold quality
bone marrow cell	CL:0002092	99.75	gold quality
monocyte	CL:0000576	98.81	gold quality
granulocyte	CL:0000094	98.65	gold quality
leukocyte	CL:0000738	98.44	gold quality
right lung	UBERON:0002167	97.71	gold quality
blood	UBERON:0000178	96.24	gold quality
spleen	UBERON:0002106	93.26	gold quality
upper lobe of left lung	UBERON:0008952	83.90	gold quality
placenta	UBERON:0001987	81.56	gold quality
lung	UBERON:0002048	78.73	gold quality
right lobe of liver	UBERON:0001114	76.04	gold quality
liver	UBERON:0002107	66.93	gold quality
right coronary artery	UBERON:0001625	66.76	gold quality
heart left ventricle	UBERON:0002084	64.75	gold quality
adenohypophysis	UBERON:0002196	64.65	gold quality
omental fat pad	UBERON:0010414	64.24	gold quality
lymph node	UBERON:0000029	63.34	gold quality
gastrocnemius	UBERON:0001388	62.36	gold quality
substantia nigra	UBERON:0002038	61.68	gold quality
adipose tissue	UBERON:0001013	61.00	gold quality
heart	UBERON:0000948	60.35	gold quality
right atrium auricular region	UBERON:0006631	60.22	gold quality
amygdala	UBERON:0001876	60.21	gold quality
lower esophagus mucosa	UBERON:0035834	60.12	gold quality
temporal lobe	UBERON:0001871	59.74	gold quality
right lobe of thyroid gland	UBERON:0001119	59.57	gold quality
left uterine tube	UBERON:0001303	59.20	gold quality
pituitary gland	UBERON:0000007	59.19	gold quality
left lobe of thyroid gland	UBERON:0001120	58.88	gold quality

Single-cell (SCXA)

Detected in 11 experiment(s), a significant marker in 10.

Experiment	Marker?	Max mean expression
E-MTAB-9801	yes	89251.64
E-GEOD-150728	yes	20515.18
E-CURD-122	yes	8596.23
E-CURD-126	yes	5094.27
E-CURD-98	yes	2581.39
E-MTAB-7407	yes	2090.88
E-HCAD-29	yes	2084.24
E-HCAD-4	yes	1469.21
E-CURD-79	yes	1319.97
E-ANND-3	yes	3.27
E-GEOD-139324	no	542.91

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

10 targeting DEFA3, 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-651-3P	99.94	73.48	5177
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-143-3P	99.49	69.05	1457
HSA-MIR-4770	99.49	69.09	1451
HSA-MIR-330-3P	99.41	69.95	2521
HSA-MIR-6088	99.29	68.45	1284
HSA-MIR-4468	98.01	66.85	1187
HSA-MIR-3670	97.88	64.39	763
HSA-MIR-4433A-3P	97.75	62.82	1435

Literature-anchored findings (GeneRIF, showing 40)

• increased levels in fetal disease, premature rupture of membranes, and preterm labor (PMID:12710851)
• These results indicate that neutrophil defensins HNP-1, -2, and -3 increase epithelial wound repair in vitro, which involves migration and proliferation, mucin production, epidermal growth factor receptor activation and downstream signaling pathways. (PMID:12871849)
• BPI and HNP 1-3 are accumulated in the synovial cavity of patients with rheumatoid arthritis (PMID:12913926)
• 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)
• HNP-3 is a potentially important regulator of neovascularizaiton, suggesting a new link between inflammation and angiogenesis. (PMID:15208269)
• expression levels in human white blood cells showed clear correlation between relative proportions of DEFA1:DEFA3 mRNA and corresponding gene numbers. However, there was no relationship between total (DEFA1+DEFA3) mRNA levels and total gene copy number (PMID:15944200)
• Subjects were genotyped for alpha-defensin-1/alpha-defensin-3, and four beta-defensin-1 polymorphisms. These polymorphisms may not be important in abnormally rapid lung function decline or susceptibility to lower respiratory infections. (PMID:16700921)
• data suggest that alpha-defensins within lymphoid tissue are expressed by granulocytes and are prevalent in HIV-1-seronegative individuals with inflammatory processes as well as HIV-1-infected individuals (PMID:16837860)
• We have tested the DEFA3 absence in 697 samples from different human populations. The proportion of subjects lacking DEFA3 varies from 10% to 37%, depending on the population tested, suggesting differences in innate immune function between populations. (PMID:17214878)
• Alpha-defensins 1-3 levels are nonspecifically elevated in stools from patients with colorectal neoplasia and likely originate from white blood cells. Alpha-defensins 1-3 in stool might serve as markers of inflammatory bowel conditions. (PMID:17531545)
• Plasma levels of alpha-defensins 1-3 are an indicator of neutrophil activation in pregnant and post-partum women. (PMID:17845323)
• Serum alpha-defensin (-1, -2 and -3) concentrations are increased in type 1 diabetic patients with diabetic nephropathy. (PMID:18003664)
• Clostridium difficile toxin B interacts with high affinity with HNP-3 which may provide a defense mechanism against clostridial glucosylating cytotoxins. (PMID:18435932)
• There are increased levels of human neutrophil alpha-defensins (alpha-defensin-1, -2, and -3) in chronic venous leg ulcers. (PMID:18472248)
• The authors analyzed the sensitivities of different pneumococcal strains to HNP1-3 and found that encapsulated strains are efficiently killed at physiological concentrations (7.5 microg/ml). (PMID:18474654)
• In African Americans, midpregnancy human neutrophil peptide 1-3 levels were more informative to preterm delivery risk than was bacterial vaginosis (PMID:18757648)
• Upregulation of HNP3 is associated with colorectal adenomas and carcinomas. (PMID:18957723)
• Salivary HNP-3concentrations increased following exercise (PMID:19263072)
• DEFA3 was upregulated in IPF patients with acute exacerbation (PMID:19363140)
• Studies indicate alpha-defensin, the products of neutrophils wase upregulated at the mRNA and protein levels in SLE patients. (PMID:19758174)
• A population of immature dysplastic granulocytes contributes to the chronic myelomonocytic leukemia phenotype through production of alpha-defensins HNP1-3 that suppress the differentiation capabilities of monocytes. (PMID:19864642)
• The total amount of gingival crevicular fluid human neutrophil peptide 3 were not different among periodontitis, gingivitis, and health control groups; there was no correlation with clinical periodontal parameters. (PMID:20151808)
• Data show that high production of alpha-defensins1-3 by immature DCs appears as a host protective factor against progression of HIV-1 infection, suggesting potential diagnostic, therapeutic and preventive implications. (PMID:20195543)
• Our report of DEFA1-3 expression by human omental adipocytes adds to the role of adipocytes in the primary defense against bacterial infection. (PMID:20424487)
• alpha-defensins 1-3 in T cells from patients with SJS/TEN may be involved in the etiopathology of these life-threatening diseases induced by medications. (PMID:20880148)
• Changes in the expression pattern of DEFA 1/3 seem to be involved in the development of gingival irritation fibromas, whereas chronic inflammation might be of less importance. (PMID:21187770)
• HNP1-3 concentrations in patients with multidrug-resistant tuberculosis were significantly lower than in drug-susceptible pulmonary TB and healthy controls (PMID:21333105)
• Increased levels of human neutrophil peptides 1, 2, and 3 in peritoneal fluid of patients with endometriosis: association with neutrophils, T cells and IL-8. (PMID:21831449)
• Directly isolated dendritic cells secrete alpha-defensins 1-3; E2 inhibits this secretion. Same trend is observed in myeloid dendritic cells isolated from pregnant women in their first trimester (low plasma E2) and third trimester (high plasma E2). (PMID:21861873)
• expressional level of HNPs 1,2 and 3 were significantly higher and their distributions overlapped in cancerous tissues of gastric cancer patients (PMID:22297599)
• alpha-Defensin (DEFA3)was the third most differentially overexpressed gene and may be related to the onset of Bell’s palsy and Ramsay Hunt Syndrome. (PMID:22737966)
• A decrease in salivary HNP 1-3 levels might be a biological factor for predisposition to oral ulcers in patients with Behcet disease and oral infection in healthy patients. (PMID:22861387)
• This study suggests that HNPs 1-3 promote tumor invasion and are potential indicators of disease progression in patients with bladder cancer. (PMID:23011762)
• Results indicate that the gene expression of DEFA 1/3 and 4 was significantly increased in all tumours - except for a significant decrease of DEFA 4 gene expression in pleomorphic adenomas. (PMID:23050799)
• Elevated DEFA3 levels in diabetes are independent of DEFA3 copy numbers. (PMID:25083086)
• The expression of alpha-defensins 1, 2 and 3 is up-regulated in hypercholesteremia. (PMID:25300997)
• these results demonstrate that HNPs1-3 may be potent inhibitors of ADAMTS13 activity, likely by binding to the central A2 domain of VWF and physically blocking ADAMTS13 binding. (PMID:27207796)
• High HNP3 expression is associated with IgA Nephropathy. (PMID:27563166)
• DEFA1, DEFA3, and PPBP expression was significantly increased in hyperlipidemia and coronary heart disease patients compared with controls. (PMID:28420383)
• lower DEFA1/DEFA3 copy number (CNV < 7) is associated with higher susceptibility to hospital-acquired infections (HAIs) in critically ill patients, indicating that host genetic factors are involved in the development of HAIs (PMID:29950924)

Cross-species orthologs

40 orthologs

Organism	Symbol	Gene ID
mus_musculus	Defa39	ENSMUSG00000058618
mus_musculus	Defa26	ENSMUSG00000060070
mus_musculus	Defa17	ENSMUSG00000060208
mus_musculus	Defa35	ENSMUSG00000061845
mus_musculus	Defa38	ENSMUSG00000061958
mus_musculus	Defa34	ENSMUSG00000063206
mus_musculus	Defa24	ENSMUSG00000064213
mus_musculus	Defa37	ENSMUSG00000065956
mus_musculus	Defa28	ENSMUSG00000074434
mus_musculus	Defa29	ENSMUSG00000074437
mus_musculus	Defa5	ENSMUSG00000074439
mus_musculus	Defa3	ENSMUSG00000074440
mus_musculus	Defa40	ENSMUSG00000074441
mus_musculus	Defa31	ENSMUSG00000074442
mus_musculus	Defa22	ENSMUSG00000074443
mus_musculus	Defa30	ENSMUSG00000074444
mus_musculus	Defa23	ENSMUSG00000074446
mus_musculus	Defa21	ENSMUSG00000074447
mus_musculus	Defa43	ENSMUSG00000079113
mus_musculus	Defa42	ENSMUSG00000079114
mus_musculus	Defa41	ENSMUSG00000079116
mus_musculus	AY761185	ENSMUSG00000079120
mus_musculus	Defa33	ENSMUSG00000094362
mus_musculus	Defa36	ENSMUSG00000094662
mus_musculus	Defa25	ENSMUSG00000094687
mus_musculus	Defa32	ENSMUSG00000094818
mus_musculus	Defa20	ENSMUSG00000095066
mus_musculus	Defa2	ENSMUSG00000096295
rattus_norvegicus	Np4	ENSRNOG00000028707
rattus_norvegicus	Defal1	ENSRNOG00000029462
rattus_norvegicus	Defa5	ENSRNOG00000030093
rattus_norvegicus	Defa24	ENSRNOG00000030524
rattus_norvegicus	Defa3	ENSRNOG00000038133
rattus_norvegicus	RatNP-3b	ENSRNOG00000038135
rattus_norvegicus	Defa31	ENSRNOG00000061751
rattus_norvegicus	Defa9	ENSRNOG00000068468
rattus_norvegicus	Np4	ENSRNOG00000069755
rattus_norvegicus		ENSRNOG00000078458
rattus_norvegicus	Defa8	ENSRNOG00000081022
rattus_norvegicus	Defa9	ENSRNOG00000091367

Paralogs (5): DEFA5 (ENSG00000164816), DEFA4 (ENSG00000164821), DEFA6 (ENSG00000164822), DEFA1 (ENSG00000206047), DEFA1B (ENSG00000240247)

Protein

Protein identifiers

Neutrophil defensin 3 — P59666 (reviewed: P59666)

Alternative names: Defensin, alpha 3, HNP-3

All UniProt accessions (2): P59666, Q6EZE9

UniProt curated annotations — full annotation on UniProt →

Function. Effector molecule of the innate immune system that acts via antibiotic-like properties against a broad array of infectious agents including bacteria, fungi, and viruses. Possesses the ability to neutralize bacterial toxins such as B.anthracis lethal factor, Clostridium difficile cytotoxin B as well as leukocidin produced by Staphylococcus aureus. Also blocks herpes simplex virus infection by interacting with envelope glycoprotein B and thus preventing its binding to heparan sulfate, the receptor for attachment.

Subunit / interactions. Dimer. (Microbial infection) Interacts with herpes virus 1 HHV-1 envelope glycoprotein B; this interaction inhibits viral infection.

Subcellular location. Secreted.

Similarity. Belongs to the alpha-defensin family.

RefSeq proteins (1): NP_005208* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002366	Alpha-defensin_N	Domain
IPR006080	Beta/alpha-defensin_C	Domain
IPR006081	Alpha-defensin_C	Domain
IPR016327	Alpha-defensin	Family

Pfam: PF00323, PF00879

UniProt features (11 total): strand 3, disulfide bond 3, peptide 2, signal peptide 1, propeptide 1, chain 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
1ZMI	X-RAY DIFFRACTION	1.15
1ZMK	X-RAY DIFFRACTION	1.3
1ZMH	X-RAY DIFFRACTION	1.5
1DFN	X-RAY DIFFRACTION	1.9
2PM4	X-RAY DIFFRACTION	1.95
2PM5	X-RAY DIFFRACTION	2.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P59666-F1	73.70	0.16

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): 66–94, 68–83, 73–93

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-1461973	Defensins
R-HSA-1462054	Alpha-defensins

MSigDB gene sets: 72 (showing top): DAVIES_MULTIPLE_MYELOMA_VS_MGUS_DN, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOCC_SECRETORY_GRANULE, MODULE_45, GOBP_ORGAN_OR_TISSUE_SPECIFIC_IMMUNE_RESPONSE, BENNETT_SYSTEMIC_LUPUS_ERYTHEMATOSUS, GOBP_HORMONE_MEDIATED_SIGNALING_PATHWAY, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS, GOBP_INNATE_IMMUNE_RESPONSE_IN_MUCOSA, GOBP_HUMORAL_IMMUNE_RESPONSE, GOBP_DEFENSE_RESPONSE_TO_GRAM_NEGATIVE_BACTERIUM, GOBP_RESPONSE_TO_STEROID_HORMONE

GO Biological Process (13): innate immune response in mucosa (GO:0002227), antibacterial humoral response (GO:0019731), estrogen receptor signaling pathway (GO:0030520), killing of cells of another organism (GO:0031640), innate immune response (GO:0045087), defense response to Gram-negative bacterium (GO:0050829), defense response to Gram-positive bacterium (GO:0050830), defense response to fungus (GO:0050832), defense response to virus (GO:0051607), disruption of plasma membrane integrity in another organism (GO:0051673), antimicrobial humoral immune response mediated by antimicrobial peptide (GO:0061844), defense response (GO:0006952), defense response to bacterium (GO:0042742)

GO Molecular Function (2): protein homodimerization activity (GO:0042803), pore-forming activity (GO:0140911)

GO Cellular Component (5): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), Golgi lumen (GO:0005796), azurophil granule lumen (GO:0035578), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Antimicrobial peptides	1
Defensins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
defense response to bacterium	3
defense response	3
antimicrobial humoral response	2
mucosal immune response	1
innate immune response	1
nuclear receptor-mediated steroid hormone signaling pathway	1
cell killing	1
disruption of cell in another organism	1
immune response	1
defense response to symbiont	1
response to fungus	1
response to virus	1
disruption of cellular anatomical structure in another organism	1
response to stress	1
response to bacterium	1
identical protein binding	1
protein dimerization activity	1
molecular_function	1
cellular anatomical structure	1
Golgi apparatus	1
intracellular organelle lumen	1
vacuolar lumen	1
secretory granule lumen	1
azurophil granule	1
extracellular vesicle	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

4 interactions, top by confidence:

A	B	Type	Score
	LECT2	psi-mi:“MI:0915”(physical association)	0.400
P/V/C	KPNA3	psi-mi:“MI:0914”(association)	0.350
DEFA3	coaX	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (4): DEFA3 (Affinity Capture-MS), DEFA3 (Affinity Capture-MS), DEFA3 (Affinity Capture-MS), DEFA3 (Affinity Capture-MS)

ESM2 similar proteins: A0A2I6EDM5, A0A3G3C7S6, A1Z0M0, A6YB85, B2KJ30, D2Y2M4, D2Y2N3, D6C4K9, D6C4L2, P0CB11, P0DUJ6, P18512, P18513, P28312, P50705, P50708, P50714, P56714, P59665, P59666, P60030, P60031, P60032, P61516, P69751, P69754, P82106, P82951, Q01524, Q3L180, Q4JEI2, Q5G860, Q5G863, Q5G864, Q7T273, Q801Y3, Q80T19, Q99MH3, Q9BP89, Q9BP99

Diamond homologs: A6YB85, B6ULW4, B6ULW5, B6ULW7, P01376, P01377, P07466, P07467, P07469, P0C8A2, P11477, P11478, P12838, P28309, P28310, P28311, P28312, P49112, P50704, P50705, P50707, P50708, P50709, P50711, P50712, P50713, P50714, P59665, P59666, P60030, P60031, P60032, P81465, P81467, P82270, P82271, P82319, P82320, Q01523, Q01524

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	19
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

282 predictions. Top by Δscore:

Variant	Effect	Δscore
8:7016672:TCACC:T	donor_loss	1.0000
8:7016673:CAC:C	donor_loss	1.0000
8:7016675:C:A	donor_loss	1.0000
8:7016100:C:CC	acceptor_gain	0.9900
8:7016106:C:CT	acceptor_gain	0.9900
8:7016107:A:T	acceptor_gain	0.9900
8:7016719:A:AT	donor_gain	0.9900
8:7016726:T:TA	donor_gain	0.9900
8:7016860:CAC:C	acceptor_gain	0.9900
8:7016863:C:T	acceptor_loss	0.9900
8:7017222:T:TA	donor_gain	0.9900
8:7017226:A:AC	donor_gain	0.9900
8:7018220:A:AC	donor_gain	0.9900
8:7018221:C:CC	donor_gain	0.9900
8:7018221:CAGAT:C	donor_gain	0.9900
8:7016098:GC:G	acceptor_gain	0.9800
8:7016099:CC:C	acceptor_gain	0.9800
8:7016100:C:CA	acceptor_loss	0.9800
8:7016101:T:C	acceptor_loss	0.9800
8:7016115:C:CT	acceptor_gain	0.9800
8:7016116:A:C	acceptor_gain	0.9800
8:7016721:C:CT	donor_gain	0.9800
8:7016861:AC:A	acceptor_gain	0.9800
8:7016862:CC:C	acceptor_gain	0.9800
8:7016863:C:CC	acceptor_gain	0.9800
8:7017227:T:C	donor_gain	0.9800
8:7018221:CA:C	donor_gain	0.9800
8:7018221:CAG:C	donor_gain	0.9800
8:7016665:G:A	donor_gain	0.9700
8:7016859:TCAC:T	acceptor_gain	0.9700

AlphaMissense

600 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:7016005:C:A	W90C	0.985
8:7016005:C:G	W90C	0.985
8:7016033:C:T	G81E	0.984
8:7016033:C:A	G81V	0.982
8:7016072:C:G	C68S	0.982
8:7016073:A:T	C68S	0.982
8:7016057:C:G	C73S	0.981
8:7016057:C:T	C73Y	0.981
8:7016058:A:T	C73S	0.981
8:7015997:C:T	C93Y	0.980
8:7015997:C:G	C93S	0.976
8:7015998:A:T	C93S	0.976
8:7016072:C:T	C68Y	0.976
8:7015993:G:C	C94W	0.975
8:7016078:C:G	C66S	0.975
8:7016079:A:T	C66S	0.975
8:7015996:G:C	C93W	0.974
8:7016027:C:G	C83S	0.974
8:7016028:A:T	C83S	0.974
8:7016058:A:G	C73R	0.974
8:7016027:C:T	C83Y	0.973
8:7016068:T:A	R69S	0.972
8:7016068:T:G	R69S	0.972
8:7015994:C:T	C94Y	0.971
8:7016056:G:C	C73W	0.971
8:7016078:C:T	C66Y	0.971
8:7015998:A:G	C93R	0.970
8:7015994:C:G	C94S	0.968
8:7015995:A:T	C94S	0.968
8:7016028:A:G	C83R	0.968

dbSNP variants (sampled 300 via entrez): RS1000121396 (8:7019126 G>A), RS1000407699 (8:7019016 A>T), RS1002131406 (8:7017916 C>A,G,T), RS1002251614 (8:7018077 C>T), RS1002685632 (8:7019781 G>A,C,T), RS1002967626 (8:7019699 G>A), RS1003510071 (8:7016460 G>A,C), RS1003687808 (8:7020245 C>A,T), RS1004585263 (8:7020260 G>A,C,T), RS1005306377 (8:7019410 T>C,G), RS1006254263 (8:7019793 C>T), RS1006718390 (8:7019907 C>A,G,T), RS1006919242 (8:7018254 G>A,T), RS1007382416 (8:7018458 A>C), RS1008644532 (8:7016942 G>A)

Disease associations

OMIM: gene MIM:604522 | 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

15 total (human), top 15 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Tretinoin	affects cotreatment, increases expression	4
GSK-J4	decreases expression	1
fluorene-9-bisphenol	decreases expression	1
Arsenic Trioxide	affects cotreatment, increases expression	1
Air Pollutants	increases abundance, decreases expression	1
Benzo(a)pyrene	affects methylation	1
Diethylhexyl Phthalate	increases expression	1
Iron	decreases expression	1
Progesterone	increases expression	1
Valproic Acid	increases methylation	1
Mifepristone	decreases expression	1
Aflatoxin B1	increases methylation	1
Sodium Selenite	increases expression	1
beta-Naphthoflavone	increases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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