DEFB1

Summary

DEFB1 (defensin beta 1, HGNC:2766) is a protein-coding gene on chromosome 8p23.1, encoding Beta-defensin 1 (P60022). Has bactericidal activity.

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 1, an antimicrobial peptide implicated in the resistance of epithelial surfaces to microbial colonization. This gene maps in close proximity to defensin family member, defensin, alpha 1 and has been implicated in the pathogenesis of cystic fibrosis.

Source: NCBI Gene 1672 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 28 total
• MANE Select transcript: NM_005218

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2766
Approved symbol	DEFB1
Name	defensin beta 1
Location	8p23.1
Locus type	gene with protein product
Status	Approved
Aliases	HBD-1, DEFB-1, DEFB101, HBD1, BD1, MGC51822
Ensembl gene	ENSG00000164825
Ensembl biotype	protein_coding
OMIM	602056
Entrez	1672

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000297439

RefSeq mRNA: 1 — MANE Select: NM_005218 NM_005218

CCDS: CCDS5959

Canonical transcript exons

ENST00000297439 — 2 exons

Exon	Start	End
ENSE00001087806	6877797	6877936
ENSE00001087807	6870592	6870826

Expression profiles

Bgee: expression breadth ubiquitous, 130 present calls, max score 99.84.

FANTOM5 (CAGE): breadth broad, TPM avg 5.8589 / max 1292.0318, expressed in 326 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
91714	5.8589	326

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adult mammalian kidney	UBERON:0000082	99.84	gold quality
metanephros cortex	UBERON:0010533	99.66	gold quality
body of pancreas	UBERON:0001150	99.55	gold quality
saliva-secreting gland	UBERON:0001044	99.04	gold quality
skin of abdomen	UBERON:0001416	99.02	gold quality
minor salivary gland	UBERON:0001830	98.99	gold quality
pancreas	UBERON:0001264	98.81	gold quality
zone of skin	UBERON:0000014	98.78	gold quality
skin of leg	UBERON:0001511	98.63	gold quality
kidney	UBERON:0002113	98.50	gold quality
islet of Langerhans	UBERON:0000006	98.43	gold quality
esophagus mucosa	UBERON:0002469	98.24	gold quality
lower esophagus mucosa	UBERON:0035834	98.14	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	97.66	gold quality
right lobe of liver	UBERON:0001114	97.65	gold quality
mucosa of transverse colon	UBERON:0004991	96.83	gold quality
cortex of kidney	UBERON:0001225	96.80	gold quality
gall bladder	UBERON:0002110	96.18	gold quality
liver	UBERON:0002107	95.68	gold quality
vagina	UBERON:0000996	93.25	gold quality
tonsil	UBERON:0002372	93.19	gold quality
rectum	UBERON:0001052	87.77	gold quality
prostate gland	UBERON:0002367	87.22	gold quality
endometrium	UBERON:0001295	86.05	gold quality
transverse colon	UBERON:0001157	85.14	gold quality
right uterine tube	UBERON:0001302	84.71	gold quality
body of stomach	UBERON:0001161	83.78	gold quality
thoracic mammary gland	UBERON:0005200	82.81	gold quality
duodenum	UBERON:0002114	82.06	gold quality
fallopian tube	UBERON:0003889	81.94	gold quality

Single-cell (SCXA)

Detected in 19 experiment(s), a significant marker in 17.

Experiment	Marker?	Max mean expression
E-HCAD-10	yes	5886.29
E-GEOD-124472	yes	3893.69
E-MTAB-6701	yes	3682.90
E-GEOD-114530	yes	3377.63
E-MTAB-10287	yes	1595.19
E-MTAB-5061	yes	567.19
E-HCAD-4	yes	445.72
E-GEOD-83139	yes	224.95
E-CURD-79	yes	124.16
E-HCAD-1	yes	29.72
E-MTAB-10553	yes	23.37
E-GEOD-81547	yes	22.51
E-CURD-114	yes	20.83
E-HCAD-9	yes	12.38
E-MTAB-6678	yes	8.45

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): BMAL1, CLOCK, FOXC1, HDAC1, HIF1A, MYC, NR3C1, PAX2

miRNA regulators (miRDB)

7 targeting DEFB1, 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-12136	99.98	72.81	5713
HSA-MIR-202-3P	99.84	71.41	1290
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-3136-3P	99.57	66.59	781
HSA-MIR-7155-3P	99.57	66.48	794
HSA-MIR-4477A	98.83	69.75	2952

Literature-anchored findings (GeneRIF, showing 40)

• 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)
• a Ile38 variant was observed in 15.0% of patients but only in 2.8% of healthy individuals and significantly associated with the disease (OR = 6.1, 95% CI 2.0-8.3, P = 0.0012); Variations in hBD-1 may define a high-risk subgroup of COPD (PMID:11829455)
• Proximal and distal RTC showed constitutive expression of human beta-defensin 1 and human beta-defensin. (PMID:12381917)
• DEFB1 is down-regulated in human prostatic and renal carcinomas. (PMID:12695553)
• Expression of mRNA is upregulated during differentation of keratinocyte immortalized cell lines. (PMID:12727027)
• 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)
• hBD-2 expression is promoted by gangliosides acting as co-receptors with TLR5 for FliC via mitogen-activated protein kinase (PMID:14707135)
• beta-defensin tertiary structure has a role in its antimicrobial activity (PMID:15317821)
• Proteus mirabilis ZapA metalloprotease readily cleaves BD1 and this proteolysis results in significantly reduced bactericidal activity (PMID:15322010)
• 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)
• Variation in DEFB1 contributes to asthma diagnosis, with apparent gender-specific effects. (PMID:15696078)
• The expression of HBD1 and two other beta-defensins was correlated with induction profiles in gingival keratinocytes. (PMID:15829297)
• There is significant genetic association between asthma, atopy, and DEFB1, as well as significant interethnic differences in frequencies of DEFB1 single nucleotide polymorphisms between Chinese and Caucasian. (PMID:16435024)
• We evaluated the frequency of three SNPs (-52 G/A, -44 C/G; -20 G/A) in the 5’ UTR of DEFB-1 gene, in a cohort of 130 HIV-1 infected mothers and their children (PMID:16572527)
• 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)
• hyphal-invasion-dependent inhibition of defensin expression in oral epithelium that undermines the host surveillance system represents a hitherto undescribed novel pathogenic mechanism of C. albicans (PMID:16741514)
• biochemical analysis of human beta-defensin 1 (PMID:17071614)
• The genotypes associated with Atopic Dermatitis and no other allergy were 692 GG (OR = 3.21, 95% CI 1.37-7.34) and 1654 AA (OR = 17.37, 95% CI 1.62-860.83). (PMID:17108702)
• The increased expression of hBD-1 mRNA in cultured HMCs in high glucose suggests a role for hBD-1 in the molecular pathways induced during hyperglycemia. (PMID:17187760)
• Five single nucleotide polymorphisms (SNPs) in Defensin Beta-1 (DEFB1) were genotyped in the Boston Early-Onset COPD Study families; none was significantly associated. (PMID:17361499)
• As compared to healthy controls, skin of patients with mycosis fungoides (non-lesional and lesional) and atopic dermatitis patients showed significantly lower hBD-1 mRNA expression and significantly higher hBD-2 and hBD-3 mRNA expression. (PMID:17415576)
• These findings provide further evidence that beta-defensin 1 may play a role in the pathogenesis of severe sepsis. (PMID:17508030)
• human beta defensin-1 genes in the gingival epithelium show differential expression in patients with specific periodontal diseases, and aggressive and chronic periodontitis types demonstrate different gingival beta defensin-1 expression patterns. (PMID:17760820)
• Our results showed that the MBL2 gene is expressed by cells in the basal lamina, whilst DEFB1 is expressed by epithelial cells. (PMID:17921115)
• Association of DEFB1 gene polymorphisms with Pseudomonas aeruginosa airway colonization in cystic fibrosis is reported. (PMID:17960157)
• The expression of hBD-1 was reduced in all lesions (5-fold in irritation fibroma and 2.5-fold in leukoplakia), but most significantly (50-fold) in OSCC. hBD-1 appears to play a role in the development of OSCC. (PMID:18346877)
• variants in human beta-defensin 1 gene are inversely associated with antiglycan antibodies, further confirming an important role for innate immunity in the pathogenesis of CD. (PMID:18397186)
• hBD-1 expression is mediated by c-Myc and the CLOCK:BMAL1 heterodimer, whereas CRY1 expression represses this complex. (PMID:18433872)
• Francisella tularensis LVS infection has a moderate effect on the level of hBD-1 in airway epithelial cells. (PMID:18452706)
• Suggest decreased urinary beta-defensin-1 expression as a biomarker of response to arsenic. (PMID:18511430)
• Human beta-defensins-1 and -2 are often up-regulated in human lung tumors (PMID:18566581)
• expression was found even in non-inflamed pseudocysts such as mucoceles (PMID:18627502)
• The authors show that enteric pathogens suppress LL-37 and HBD-1 expression in the intestinal epithelial cells (IECs) with Vibrio cholerae and enterotoxigenic Escherichia coli (ETEC) exerting the most dramatic effects. (PMID:18717821)
• Data indicate that the DEFB1 promoter carries functional variants and support previous hypotheses whereby alleles predisposing to atopic disorders are widespread in modern societies because they conferred resistance to pathogens in ancient settings. (PMID:18817538)
• HBD-1 was distributed in the cytoplasm of healthy salivary glands and benign salivary gland tumours but seems to migrate into the nucleus of malignant salivary gland tumours. (PMID:18840281)
• Genetic variations in the DEFB1 gene encoding constitutive human beta-defensin 1 may be associated with the risk for Crohn’s disease and may determine disease phenotype, e.g. colonic localization. (PMID:18938660)
• The results of these genetic and in vitro experiments suggest that not only the inducible, but also the constitutive form of hBD may be important in the pathogenesis of H. pylori-induced gastritis. (PMID:18991164)
• The concentrations of human defensin 5, HBD1, and HBD2 in vulvovaginal candidiasis patients were higher than in controls. (PMID:19080508)
• PAX2 oncogene suppresses hBD1 expression in cancer and further implicate PAX2 as a novel therapeutic target for prostate cancer treatment. (PMID:19118900)
• the DEFB1 gene has a main effect on the skin inflammation and/or skin responsiveness to any kind of allergic reaction. (PMID:19135873)

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Beta-defensin 1 — P60022 (reviewed: P60022)

Alternative names: Defensin, beta 1

All UniProt accessions (1): P60022

UniProt curated annotations — full annotation on UniProt →

Function. Has bactericidal activity. May act as a ligand for C-C chemokine receptor CCR6. Positively regulates the sperm motility and bactericidal activity in a CCR6-dependent manner. Binds to CCR6 and triggers Ca2+ mobilization in the sperm which is important for its motility.

Subunit / interactions. Monomer. Homodimer.

Subcellular location. Secreted. Membrane.

Tissue specificity. Blood plasma. Sperm. Highly expressed in the lower head and midpiece of sperm. Significantly reduced levels found in the sperms of asthenozoospermia and leukocytospermia patients (at protein level).

Similarity. Belongs to the beta-defensin family.

RefSeq proteins (1): NP_005209* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001855	Defensin_beta-like	Domain

Pfam: PF00711

UniProt features (15 total): strand 4, disulfide bond 3, sequence variant 3, signal peptide 1, propeptide 1, turn 1, peptide 1, helix 1

Structure

Experimental structures (PDB)

15 structures.

PDB	Method	Resolution (Å)
2NLS	X-RAY DIFFRACTION	0.98
1IJV	X-RAY DIFFRACTION	1.2
2NLE	X-RAY DIFFRACTION	1.35
2PLZ	X-RAY DIFFRACTION	1.36
1IJU	X-RAY DIFFRACTION	1.4
2NLF	X-RAY DIFFRACTION	1.45
2NLD	X-RAY DIFFRACTION	1.49
2NLC	X-RAY DIFFRACTION	1.65
2NLG	X-RAY DIFFRACTION	1.65
2NLQ	X-RAY DIFFRACTION	1.8
2NLB	X-RAY DIFFRACTION	1.85
2NLH	X-RAY DIFFRACTION	1.85
2NLP	X-RAY DIFFRACTION	1.85
1E4S	SOLUTION NMR
1KJ5	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P60022-F1	81.82	0.51

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): 37–66, 44–59, 49–67

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

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

MSigDB gene sets: 178 (showing top): GOBP_POSITIVE_REGULATION_OF_REPRODUCTIVE_PROCESS, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, JAEGER_METASTASIS_DN, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOBP_MALE_GAMETE_GENERATION, STOSSI_RESPONSE_TO_ESTRADIOL, GOBP_ORGAN_OR_TISSUE_SPECIFIC_IMMUNE_RESPONSE, GOBP_SPERM_CAPACITATION, GOBP_TAXIS, GOBP_ANATOMICAL_STRUCTURE_MATURATION, MODULE_75, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, MODULE_289

GO Biological Process (15): innate immune response in mucosa (GO:0002227), chemotaxis (GO:0006935), immune response (GO:0006955), G protein-coupled receptor signaling pathway (GO:0007186), response to bacterium (GO:0009617), calcium-mediated signaling (GO:0019722), antibacterial humoral response (GO:0019731), defense response to bacterium (GO:0042742), innate immune response (GO:0045087), defense response to Gram-negative bacterium (GO:0050829), defense response to Gram-positive bacterium (GO:0050830), positive regulation of flagellated sperm motility involved in capacitation (GO:0060474), antimicrobial humoral immune response mediated by antimicrobial peptide (GO:0061844), defense response (GO:0006952), defense response to symbiont (GO:0140546)

GO Molecular Function (3): CCR6 chemokine receptor binding (GO:0031731), identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (7): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), Golgi lumen (GO:0005796), membrane (GO:0016020), extracellular exosome (GO:0070062), sperm midpiece (GO:0097225), microvesicle (GO:1990742)

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 to bacterium	3
cellular anatomical structure	3
antimicrobial humoral response	2
extracellular vesicle	2
mucosal immune response	1
innate immune response	1
response to chemical	1
taxis	1
immune system process	1
response to stimulus	1
G protein-coupled receptor activity	1
signal transduction	1
response to other organism	1
intracellular signaling cassette	1
defense response	1
response to bacterium	1
immune response	1
defense response to symbiont	1
reproductive process	1
sperm capacitation	1
positive regulation of flagellated sperm motility	1
response to stress	1
defense response to other organism	1
CCR chemokine receptor binding	1
protein binding	1
binding	1
Golgi apparatus	1
intracellular organelle lumen	1
sperm flagellum	1

Protein interactions and networks

STRING

1076 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DEFB1	CCRL2	O00421	989
DEFB1	CCR6	P51684	989
DEFB1	BRD4	O60885	984
DEFB1	DEFB4A	O15263	980
DEFB1	DEFB103A	P81534	953
DEFB1	BRDT	Q58F21	930
DEFB1	DEFB104A	Q8WTQ1	916
DEFB1	DEFA1	P11479	914
DEFB1	H4C7	Q99525	891
DEFB1	H4C16	P02304	889
DEFB1	CAMP	P49913	864
DEFB1	DEFA5	Q01523	861
DEFB1	DEFA6	Q01524	849
DEFB1	DEFA1	P11479	838
DEFB1	BRD2	P25440	838

IntAct

8 interactions, top by confidence:

A	B	Type	Score
DEFB1	ASPH	psi-mi:“MI:0915”(physical association)	0.560
DEFB1	NMT2	psi-mi:“MI:0914”(association)	0.530
RhoA	DEFB1	psi-mi:“MI:0915”(physical association)	0.400
DEFB1	MAP4K2	psi-mi:“MI:0915”(physical association)	0.370
ASPH	DEFB1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (15): FBXW5 (Affinity Capture-MS), FAM172A (Affinity Capture-MS), PM20D2 (Affinity Capture-MS), NMT2 (Affinity Capture-MS), NMT1 (Affinity Capture-MS), PMPCA (Affinity Capture-MS), PMPCB (Affinity Capture-MS), IDE (Affinity Capture-MS), ASPH (Two-hybrid), PM20D2 (Affinity Capture-MS), NMT2 (Affinity Capture-MS), PMPCB (Affinity Capture-MS), FAM172A (Affinity Capture-MS), FBXW5 (Affinity Capture-MS), DEFB1 (Two-hybrid)

ESM2 similar proteins: A0A7G6KN55, A3RJ36, A4H202, A4H203, A4H204, O02775, O18794, O19038, O19039, O62697, O88514, O89117, O97946, P0C8A6, P0C8A7, P25068, P46162, P46163, P46165, P46168, P56386, P60022, P61261, P61262, P61263, P82019, Q28880, Q32ZI0, Q32ZI2, Q32ZI3, Q32ZI4, Q5IAB9, Q6GXJ1, Q6IV23, Q6QLQ9, Q6QLR3, Q7JGL8, Q7JGL9, Q7JGM0, Q7JGM1

Diamond homologs: O18794, O89117, P56386, P60022, P60023, P61261, P61262, P61263, Q0E4V3, Q32ZI2, Q7JGL8, Q7JGL9, Q7JGM0, Q7JGM1, Q7JGM2, Q95J18, Q95J22, Q95J24, Q95M66, Q95M67, Q95M68, P82020, Q32ZI0, Q32ZF8, Q7TNV7, O97946, P46161, A3RJ36, P46160, P46165, P46166, P85150, Q28880, Q32ZF7, Q6QLR1, Q70KL2, Q70KL3, Q7TMD2, P46170, P46171

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	21
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

150 predictions. Top by Δscore:

Variant	Effect	Δscore
8:6877791:GCTTA:G	donor_loss	0.9800
8:6877792:CTTAC:C	donor_loss	0.9800
8:6877796:C:A	donor_loss	0.9800
8:6870824:CACCT:C	acceptor_loss	0.9500
8:6870825:ACCTG:A	acceptor_loss	0.9500
8:6870826:CCT:C	acceptor_loss	0.9500
8:6870827:CTGTA:C	acceptor_loss	0.9500
8:6870823:CCAC:C	acceptor_gain	0.9400
8:6870824:CACC:C	acceptor_gain	0.9400
8:6870829:G:C	acceptor_loss	0.9400
8:6877790:AGCTT:A	donor_loss	0.9200
8:6870841:C:CT	acceptor_loss	0.9100
8:6877795:A:AC	donor_gain	0.8900
8:6877796:C:CC	donor_gain	0.8900
8:6870824:CAC:C	acceptor_gain	0.8700
8:6870842:A:T	acceptor_loss	0.8700
8:6877016:T:TA	donor_gain	0.8300
8:6870827:C:CC	acceptor_gain	0.8100
8:6870843:C:CT	acceptor_loss	0.7700
8:6870844:A:T	acceptor_loss	0.6900
8:6877012:AGGAT:A	donor_gain	0.6800
8:6877022:A:C	donor_gain	0.6500
8:6877009:A:C	donor_gain	0.5800
8:6877797:C:A	donor_loss	0.5800
8:6877936:T:TA	donor_gain	0.5800
8:6873257:T:TA	donor_gain	0.5500
8:6877020:A:AC	donor_gain	0.5500
8:6877021:C:CC	donor_gain	0.5500
8:6877782:G:C	donor_gain	0.5500
8:6871433:CT:C	donor_gain	0.5400

AlphaMissense

435 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:6870719:C:A	G57C	0.998
8:6870757:C:G	C44S	0.998
8:6870758:A:T	C44S	0.998
8:6870711:A:C	C59W	0.995
8:6870712:C:G	C59S	0.995
8:6870712:C:T	C59Y	0.995
8:6870713:A:T	C59S	0.995
8:6870758:A:G	C44R	0.994
8:6870778:C:G	C37S	0.994
8:6870779:A:T	C37S	0.994
8:6870687:G:C	C67W	0.993
8:6870691:C:G	C66S	0.993
8:6870692:A:T	C66S	0.993
8:6870756:A:C	C44W	0.993
8:6870777:G:C	C37W	0.993
8:6870712:C:A	C59F	0.992
8:6870713:A:G	C59R	0.992
8:6870718:C:A	G57V	0.992
8:6870719:C:G	G57R	0.992
8:6870778:C:T	C37Y	0.992
8:6870688:C:G	C67S	0.991
8:6870689:A:T	C67S	0.991
8:6870692:A:G	C66R	0.991
8:6870742:C:G	C49S	0.991
8:6870743:A:G	C49R	0.991
8:6870743:A:T	C49S	0.991
8:6870688:C:T	C67Y	0.990
8:6870690:G:C	C66W	0.990
8:6870742:C:T	C49Y	0.990
8:6870757:C:T	C44Y	0.988

dbSNP variants (sampled 300 via entrez): RS1000090799 (8:6875247 C>G,T), RS1000299655 (8:6878249 G>T), RS1000313338 (8:6879512 T>A), RS1000829281 (8:6870099 G>T), RS1000836638 (8:6871230 TC>T,TCC), RS1001497648 (8:6876087 G>A), RS1001532967 (8:6871498 C>T), RS1001671257 (8:6877645 C>A,G,T), RS1001974110 (8:6877545 A>G,T), RS1002007049 (8:6872590 G>A,C), RS1002109113 (8:6875831 C>G), RS1002392293 (8:6878747 C>A,T), RS1002455807 (8:6879076 G>A,T), RS1002457758 (8:6872474 A>G), RS1002568811 (8:6879235 G>A)

Disease associations

OMIM: gene MIM:602056 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST002497_5	Blood pressure	4.000000e-07
GCST003270_1	Psoriatic arthritis	3.000000e-06
GCST003542_163	Night sleep phenotypes	7.000000e-07
GCST005342_4	Plasma kynurenine levels in major depressive disorder	8.000000e-07
GCST005343_1	Plasma kynurenine to tryptophan ratio in major depressive disorder	2.000000e-07
GCST006585_1669	Blood protein levels	8.000000e-60
GCST009269_9	Dental caries (decayed and filled deciduous teeth)	5.000000e-06
GCST009391_33	Metabolite levels	9.000000e-06

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0005763	pulse pressure measurement
EFO:0008529	kynurenine measurement
EFO:0008530	kynurenine:tryptophan ratio
EFO:0010350	cholesteryl ester 22:6 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

44 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	4
Tobacco Smoke Pollution	affects expression, increases expression	4
Benzo(a)pyrene	affects methylation, increases expression	3
Troglitazone	increases expression, decreases expression	2
Arsenic	decreases expression, increases abundance	2
Tetrachlorodibenzodioxin	decreases expression	2
aristolochic acid I	decreases expression	1
methyleugenol	increases expression	1
chlortoluron	decreases expression	1
sodium arsenate	decreases expression, increases abundance	1
butyraldehyde	increases expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
entinostat	decreases expression	1
azaspiracid	decreases expression	1
lipopolysaccharide, E coli O55-B5	increases expression	1
nutlin 3	increases expression, affects cotreatment	1
belinostat	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Zoledronic Acid	increases expression	1
Aerosols	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Calcitriol	increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Dactinomycin	affects cotreatment, increases expression	1
Dust	decreases expression	1
Estradiol	affects cotreatment, decreases expression	1
Gold	affects binding, decreases expression	1
Hydrogen Peroxide	affects expression	1
Mustard Gas	increases expression	1

Clinical trials (associated diseases)

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