AZU1

Summary

AZU1 (azurocidin 1, HGNC:913) is a protein-coding gene on chromosome 19p13.3, encoding Azurocidin (P20160). This is a neutrophil granule-derived antibacterial and monocyte- and fibroblast-specific chemotactic glycoprotein.

Azurophil granules, specialized lysosomes of the neutrophil, contain at least 10 proteins implicated in the killing of microorganisms. This gene encodes a preproprotein that is proteolytically processed to generate a mature azurophil granule antibiotic protein, with monocyte chemotactic and antimicrobial activity. It is also an important multifunctional inflammatory mediator. This encoded protein is a member of the serine protease gene family but it is not a serine proteinase, because the active site serine and histidine residues are replaced. The genes encoding this protein, neutrophil elastase 2, and proteinase 3 are in a cluster located at chromosome 19pter. All 3 genes are expressed coordinately and their protein products are packaged together into azurophil granules during neutrophil differentiation.

Source: NCBI Gene 566 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 66 total
• MANE Select transcript: NM_001700

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:913
Approved symbol	AZU1
Name	azurocidin 1
Location	19p13.3
Locus type	gene with protein product
Status	Approved
Aliases	AZU, CAP37, AZAMP, HBP, NAZC, HUMAZUR
Ensembl gene	ENSG00000172232
Ensembl biotype	protein_coding
OMIM	162815
Entrez	566

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000233997, ENST00000592205

RefSeq mRNA: 1 — MANE Select: NM_001700 NM_001700

CCDS: CCDS12044

Canonical transcript exons

ENST00000233997 — 5 exons

Exon	Start	End
ENSE00001154873	831716	832018
ENSE00001236585	827837	827904
ENSE00001332741	830708	830941
ENSE00003579121	828230	828386
ENSE00003713871	829562	829706

Expression profiles

Bgee: expression breadth ubiquitous, 125 present calls, max score 99.18.

FANTOM5 (CAGE): breadth broad, TPM avg 100.9221 / max 47727.7540, expressed in 206 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
172761	100.6756	203
172763	0.1148	26
172764	0.1115	22
172762	0.0201	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bone marrow	UBERON:0002371	99.18	gold quality
bone element	UBERON:0001474	99.17	gold quality
bone marrow cell	CL:0002092	98.51	gold quality
monocyte	CL:0000576	86.34	gold quality
leukocyte	CL:0000738	85.44	gold quality
blood	UBERON:0000178	84.38	gold quality
granulocyte	CL:0000094	82.02	gold quality
spleen	UBERON:0002106	77.85	gold quality
right uterine tube	UBERON:0001302	74.03	gold quality
right lung	UBERON:0002167	73.99	gold quality
cortical plate	UBERON:0005343	73.36	gold quality
ganglionic eminence	UBERON:0004023	72.04	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	69.57	gold quality
upper lobe of left lung	UBERON:0008952	69.25	gold quality
ventricular zone	UBERON:0003053	67.86	gold quality
anterior cingulate cortex	UBERON:0009835	64.68	gold quality
right frontal lobe	UBERON:0002810	63.69	gold quality
lung	UBERON:0002048	63.25	gold quality
hypothalamus	UBERON:0001898	63.15	gold quality
mucosa of stomach	UBERON:0001199	63.02	gold quality
superior frontal gyrus	UBERON:0002661	63.02	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	62.82	gold quality
Brodmann (1909) area 9	UBERON:0013540	62.57	gold quality
placenta	UBERON:0001987	61.05	gold quality
right lobe of liver	UBERON:0001114	60.37	gold quality
cerebral cortex	UBERON:0000956	60.19	gold quality
primary visual cortex	UBERON:0002436	59.66	gold quality
Ammon’s horn	UBERON:0001954	59.52	gold quality
amygdala	UBERON:0001876	58.77	gold quality
temporal lobe	UBERON:0001871	58.68	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-CURD-112	yes	3351.03
E-MTAB-9067	yes	280.01
E-HCAD-6	yes	62.88
E-ANND-3	yes	8.94
E-MTAB-9801	yes	5.31
E-HCAD-4	no	2495.58

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
PRKCD	Activation

miRNA regulators (miRDB)

1 targeting AZU1, 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-3195	88.05	57.43	53

Literature-anchored findings (GeneRIF, showing 38)

• Secretion of heparin-binding protein (CAP37) from human neutrophils is determined by its localization in azurophilic granules and secretory vesicles (PMID:11861296)
• CAP37 is localized within the vascular endothelium associated with atherosclerotic plaques. CAP37 is induced in endothelial cells in response to inflammatory mediators (PMID:11891183)
• Azurocidin 1 displays antimicrobial activity against E. coli, S. faecalis, and C. albicans. (PMID:11994286)
• structural analysis of N-glycans (PMID:12054586)
• A comparison of proforms and mature forms of azurocidin in regulating granulopoiesis (PMID:12135665)
• arginine-rich residues of CAP37 amplify lipopolysaccharide-induced monocyte activation (PMID:12438368)
• CAP37 is a neutrophil-derived inflammatory mediator that augments leukocyte adhesion to endothelial monolayers (PMID:12826073)
• Azurocidin 1 (cationic antimicrobial protein 37)is a multifunctional inflammatory mediator causing an increase of vascular permeability [review]. (PMID:14515154)
• Due to its localization to atherosclerotic plaques and its ability to modulate smooth muscle cells, CAP37 may play a role in the progression of this disease. (PMID:15020208)
• Secretion of CAP37, a neutrophil granule protein accumulating on the endothelial cell surface and promoting arrest of monocytes, could contribute to the recruitment of monocytes at inflammatory loci. (PMID:15879141)
• HBP appears to be one of the primary effector molecules of antibody-mediated nonhemolytic transfusion reactions including transfusion acute lung injury (PMID:18346022)
• HBP and human neutrophil peptides 1-3 triggered macrophage release of TNF-alpha and IFN-gamma, which acted in an autocrine loop to enhance expression of CD32 and CD64 and thereby enhance phagocytosis[heparin-binding protein, HBP] (PMID:18787642)
• Data show that human neutrophils challenged with leukotriene B(4) release heparin-binding protein as determined by Western blot analysis. (PMID:19151333)
• The TAASC motif in a cyclizised 20-44 amino acid peptide is part of the ligand in HBP responsible for activation of the HBP receptor on monocytes. Monocytes release HBP constitutively in small amounts and more so in the presence of lipopolysaccharide. (PMID:20083497)
• group A streptococci induce contact activation and HBP release during skin infection, which likely contribute to the symptoms seen in erysipelas: fever, pain, erythema, and edema (PMID:20107486)
• Proliferating bile ductules may play a role in the inflammatory response in biliary atresia through expression of CAP37. (PMID:20399025)
• Heparin-binding protein is elevated in patients with shock from septic and non-septic etiologies. (PMID:22207392)
• AZU1 exhibited high affinity binding to PTX3 in a calcium ion-dependent manner (PMID:22278372)
• Low levels of azurocidin in maternal serum in the first trimester were associated with subsequent preterm prelabor rupture of membranes. (PMID:23808364)
• Plasma levels of heparin-binding protein were significantly higher in patients with acute respiratory distress syndrome. (PMID:23883488)
• identified a multifunctional bioactive peptide, based on CAP37, that induces cell migration, possesses antibacterial and LPS-binding activity, and is effective at healing infected and noninfected corneal wounds in vivo. (PMID:25412625)
• Neuronal CAP37 may modulate the neuroinflammatory response in Alzheimer disease. (PMID:26170148)
• the patterns of HBP regulation of the expression of the adhesion molecular VCAM-1 were similar to those seen in MCP-1 after pretreatment with inhibitors (PMID:29288710)
• patients with chronic periodontitis displayed 3.6 times mean higher levels of azurocidin in gingival crevicular fluid than healthy controls (PMID:31608993)
• Heparin-binding protein measurement improves the prediction of myocardial injury-related cardiogenic shock. (PMID:32156261)
• The Dynamics of Heparin-Binding Protein in Cardiothoracic Surgery-A Pilot Study. (PMID:33454168)
• Serum Heparin-Binding Protein as a Potential Biomarker to Distinguish Adult-Onset Still’s Disease From Sepsis. (PMID:33868298)
• Combined detection of procalcitonin, heparin-binding protein, and interleukin-6 is a promising assay to diagnose and predict acute pancreatitis. (PMID:34151489)
• Azurocidin is loaded into small extracellular vesicles via its N-linked glycosylation and promotes intravasation of renal cell carcinoma cells. (PMID:34418081)
• Diagnostic value of heparin-binding protein in the cerebrospinal fluid for purulent meningitis in children. (PMID:34495248)
• The Dynamics of Circulating Heparin-Binding Protein: Implications for Its Use as a Biomarker. (PMID:34965528)
• Application Value of Blood Heparin-Binding Protein in the Diagnosis of Acute Exacerbation of Chronic Obstructive Pulmonary Disease. (PMID:35024012)
• [Changes of heparin-binding protein in severe burn patients during shock stage and its effects on human umbilical vein endothelial cells and neutrophils]. (PMID:35220703)
• Human Platelets Contain, Translate, and Secrete Azurocidin; A Novel Effect on Hemostasis. (PMID:35628475)
• Clinical value of serum sTREM-1 and HBP levels in combination with traditional inflammatory markers in diagnosing hospital-acquired pneumonia in elderly. (PMID:36195852)
• Increased CAP37 Expression in Stable Chronic Obstructive Pulmonary Disease. (PMID:36245028)
• AZU1 (HBP/CAP37) and PRKCG (PKC-gamma) may be candidate genes affecting the severity of acute mountain sickness. (PMID:36803152)
• Utility of heparin-binding protein following cardiothoracic surgery using cardiopulmonary bypass. (PMID:38057352)

Cross-species orthologs

0 orthologs

Paralogs (6): CMA1 (ENSG00000092009), CTSG (ENSG00000100448), GZMH (ENSG00000100450), GZMB (ENSG00000100453), KLK6 (ENSG00000167755), KLK13 (ENSG00000167759)

Protein

Protein identifiers

Azurocidin — P20160 (reviewed: P20160)

Alternative names: Cationic antimicrobial protein CAP37, Heparin-binding protein

All UniProt accessions (2): A0A087WXP0, P20160

UniProt curated annotations — full annotation on UniProt →

Function. This is a neutrophil granule-derived antibacterial and monocyte- and fibroblast-specific chemotactic glycoprotein. Binds heparin. The cytotoxic action is limited to many species of Gram-negative bacteria; this specificity may be explained by a strong affinity of the very basic N-terminal half for the negatively charged lipopolysaccharides that are unique to the Gram-negative bacterial outer envelope. It may play a role in mediating recruitment of monocytes in the second wave of inflammation. Has antibacterial activity against the Gram-negative bacterium P.aeruginosa, this activity is inhibited by LPS from P.aeruginosa. Acting alone, it does not have antimicrobial activity against the Gram-negative bacteria A.actinomycetemcomitans ATCC 29532, A.actinomycetemcomitans NCTC 9709, A.actinomycetemcomitans FDC-Y4, H.aphrophilus ATCC 13252, E.corrodens ATCC 23834, C.sputigena ATCC 33123, Capnocytophaga sp ATCC 33124, Capnocytophaga sp ATCC 27872 or E.coli ML-35. Has antibacterial activity against C.sputigena ATCC 33123 when acting synergistically with either elastase or cathepsin G.

Subcellular location. Cytoplasmic granule membrane.

Post-translational modifications. Cleavage of the N-terminal propeptide which is composed of 7 amino acids occurs in two steps. The initial cleavage of 5 amino acids is followed by the cleavage of a dipeptide to produce the mature form.

Similarity. Belongs to the peptidase S1 family. Elastase subfamily.

RefSeq proteins (1): NP_001691* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001254	Trypsin_dom	Domain
IPR001314	Peptidase_S1A	Family
IPR009003	Peptidase_S1_PA	Homologous_superfamily
IPR043504

Pfam: PF00089

UniProt features (38 total): strand 14, disulfide bond 4, helix 4, propeptide 3, glycosylation site 3, mutagenesis site 2, sequence conflict 2, turn 2, signal peptide 1, chain 1, domain 1, region of interest 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
1A7S	X-RAY DIFFRACTION	1.12
1FY3	X-RAY DIFFRACTION	1.89
1AE5	X-RAY DIFFRACTION	2.3
1FY1	X-RAY DIFFRACTION	2.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P20160-F1	90.27	0.80

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 (4): 52–68, 149–207, 180–186, 197–222

Glycosylation sites (3): 126, 140, 171

Mutagenesis-validated functional residues (2):

Position	Phenotype
52	loss of antibiotic activity.
68	loss of antibiotic activity.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-6798695	Neutrophil degranulation
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System

MSigDB gene sets: 162 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, GOBP_POSITIVE_REGULATION_OF_ENDOCYTOSIS, GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_CELL_CHEMOTAXIS, GOBP_INFLAMMATORY_RESPONSE, GOCC_VACUOLAR_MEMBRANE, GOCC_SECRETORY_GRANULE, GOBP_LEUKOCYTE_MEDIATED_CYTOTOXICITY, GOBP_INDUCTION_OF_POSITIVE_CHEMOTAXIS, GOBP_NEUROGENESIS, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, CHEOK_RESPONSE_TO_HD_MTX_UP, GOBP_VESICLE_MEDIATED_TRANSPORT

GO Biological Process (27): microglial cell activation (GO:0001774), proteolysis (GO:0006508), inflammatory response (GO:0006954), phospholipase C-activating G protein-coupled receptor signaling pathway (GO:0007200), glial cell migration (GO:0008347), antimicrobial humoral response (GO:0019730), positive regulation of fractalkine production (GO:0032724), positive regulation of interleukin-1 beta production (GO:0032731), positive regulation of tumor necrosis factor production (GO:0032760), intracellular signal transduction (GO:0035556), monocyte extravasation (GO:0035696), monocyte activation (GO:0042117), negative regulation of apoptotic process (GO:0043066), regulation of vascular permeability (GO:0043114), cellular extravasation (GO:0045123), positive regulation of MHC class II biosynthetic process (GO:0045348), positive regulation of cell adhesion (GO:0045785), macrophage chemotaxis (GO:0048246), positive regulation of phagocytosis (GO:0050766), defense response to Gram-negative bacterium (GO:0050829), induction of positive chemotaxis (GO:0050930), protein maturation (GO:0051604), defense response to virus (GO:0051607), cell chemotaxis (GO:0060326), neutrophil-mediated killing of bacterium (GO:0070944), chemotaxis (GO:0006935), defense response to bacterium (GO:0042742)

GO Molecular Function (6): serine-type endopeptidase activity (GO:0004252), heparin binding (GO:0008201), peptidase activity (GO:0008233), toxic substance binding (GO:0015643), heparan sulfate proteoglycan binding (GO:0043395), protein binding (GO:0005515)

GO Cellular Component (7): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), membrane (GO:0016020), azurophil granule membrane (GO:0035577), azurophil granule lumen (GO:0035578), azurophil granule (GO:0042582), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Innate Immune System	1
Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
cellular anatomical structure	2
azurophil granule	2
leukocyte activation involved in inflammatory response	1
macrophage activation	1
glial cell activation	1
protein metabolic process	1
defense response	1
G protein-coupled receptor signaling pathway	1
phospholipase C activator activity	1
cell migration	1
gliogenesis	1
humoral immune response	1
defense response to symbiont	1
fractalkine production	1
regulation of fractalkine production	1
positive regulation of chemokine production	1
interleukin-1 beta production	1
regulation of interleukin-1 beta production	1
positive regulation of interleukin-1 production	1
tumor necrosis factor production	1
regulation of tumor necrosis factor production	1
positive regulation of tumor necrosis factor superfamily cytokine production	1
intracellular anatomical structure	1
signal transduction	1
cellular extravasation	1
mononuclear cell migration	1
myeloid leukocyte migration	1
myeloid leukocyte activation	1
apoptotic process	1
regulation of apoptotic process	1
negative regulation of programmed cell death	1
vascular process in circulatory system	1
blood circulation	1
regulation of biological quality	1
leukocyte migration	1
positive regulation of macromolecule biosynthetic process	1
MHC class II biosynthetic process	1
regulation of MHC class II biosynthetic process	1
cell adhesion	1

Protein interactions and networks

STRING

926 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AZU1	MPO	P05164	943
AZU1	CTSG	P08311	892
AZU1	PTN	P21246	802
AZU1	BPI	P17213	794
AZU1	LTF	P02788	785
AZU1	HDGF	P51858	741
AZU1	MDK	P21741	732
AZU1	SERPINA4	P29622	709
AZU1	ELANE	P08246	699
AZU1	CCN1	O00622	678
AZU1	SELENOP	P49908	677
AZU1	RNASE3	P12724	667
AZU1	PRTN3	P15637	652
AZU1	SMCP	P49901	649
AZU1	CAMP	P49913	602

IntAct

25 interactions, top by confidence:

A	B	Type	Score
AZU1	ZNG1C	psi-mi:“MI:0914”(association)	0.530
PRRT2	NDUFS4	psi-mi:“MI:0914”(association)	0.530
AZU1	CFP	psi-mi:“MI:0407”(direct interaction)	0.440
	CD5L	psi-mi:“MI:0915”(physical association)	0.400
AZU1	STAT3	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
	ENO1	psi-mi:“MI:0914”(association)	0.350
	POLR3A	psi-mi:“MI:0914”(association)	0.350
	POLRMT	psi-mi:“MI:0914”(association)	0.350
	IGF2BP3	psi-mi:“MI:0914”(association)	0.350
ELOA2	XRCC2	psi-mi:“MI:0914”(association)	0.350
RHBDD1	A2ML1	psi-mi:“MI:0914”(association)	0.350
KLK10	IGLL5	psi-mi:“MI:0914”(association)	0.350
AZU1	CALR	psi-mi:“MI:0914”(association)	0.350
AZU1	UBA6	psi-mi:“MI:0914”(association)	0.350
C9orf85	MPO	psi-mi:“MI:0914”(association)	0.350
RSRP1	A2ML1	psi-mi:“MI:0914”(association)	0.350
TRIM16L	IGLL5	psi-mi:“MI:0914”(association)	0.350
ZNF511	AZU1	psi-mi:“MI:0914”(association)	0.350
A2M	TPP1	psi-mi:“MI:0403”(colocalization)	0.350
CLEC4G	AZU1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (39): ZYG11B (Affinity Capture-MS), SH3GL2 (Affinity Capture-MS), SH3GL1 (Affinity Capture-MS), ERBB2IP (Affinity Capture-MS), KBTBD6 (Affinity Capture-MS), BIN3 (Affinity Capture-MS), CBWD3 (Affinity Capture-MS), OSBPL6 (Affinity Capture-MS), STAT3 (Affinity Capture-MS), DIEXF (Affinity Capture-MS), FBXO2 (Affinity Capture-MS), ERBB2IP (Affinity Capture-MS), CBWD3 (Affinity Capture-MS), SH3GL1 (Affinity Capture-MS), SH3GL2 (Affinity Capture-MS)

ESM2 similar proteins: A6NIE9, O35164, O43240, P00746, P00770, P03953, P05981, P06870, P07288, P09582, P12323, P15944, P20151, P20160, P20231, P21845, P22457, P32038, P35034, P49862, P50343, P51124, P51779, P69526, P80015, Q00356, Q03238, Q05511, Q07276, Q14B24, Q15661, Q28773, Q3T0A3, Q3UP87, Q571E5, Q5R5E8, Q6GPI1, Q6IE59, Q7JIG6, Q80WM7

Diamond homologs: A7WPL7, O35164, O35205, O46683, O60259, O88780, P00746, P00759, P00760, P00761, P00762, P00763, P00764, P00770, P00773, P04187, P06868, P06871, P07146, P07647, P08217, P08246, P08311, P08426, P08882, P08883, P08884, P09582, P09650, P10144, P11032, P11033, P11034, P12544, P13366, P15119, P17977, P18291, P19799, P20160

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	63
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

699 predictions. Top by Δscore:

Variant	Effect	Δscore
19:828383:GCCA:G	donor_gain	1.0000
19:828387:G:GG	donor_gain	1.0000
19:829554:A:AG	acceptor_gain	1.0000
19:829704:CAG:C	donor_loss	1.0000
19:829705:AGGT:A	donor_loss	1.0000
19:829707:GTGA:G	donor_loss	1.0000
19:829708:T:A	donor_loss	1.0000
19:830706:A:AG	acceptor_gain	1.0000
19:830706:AGCT:A	acceptor_gain	1.0000
19:830707:G:GG	acceptor_gain	1.0000
19:830707:GCTG:G	acceptor_gain	1.0000
19:830937:GCAAT:G	donor_gain	1.0000
19:830939:AATGT:A	donor_loss	1.0000
19:830940:ATGT:A	donor_loss	1.0000
19:830941:TGTGA:T	donor_loss	1.0000
19:830942:G:GG	donor_gain	1.0000
19:830942:G:T	donor_loss	1.0000
19:830943:TGAGT:T	donor_loss	1.0000
19:830944:G:GT	donor_loss	1.0000
19:827900:GGCCG:G	donor_gain	0.9900
19:827901:GCCG:G	donor_gain	0.9900
19:827901:GCCGG:G	donor_gain	0.9900
19:827904:GGT:G	donor_loss	0.9900
19:827905:GT:G	donor_loss	0.9900
19:827906:TGAG:T	donor_loss	0.9900
19:827907:GAGT:G	donor_loss	0.9900
19:829550:C:A	acceptor_gain	0.9900
19:829555:C:G	acceptor_gain	0.9900
19:830702:CCCCA:C	acceptor_loss	0.9900
19:830703:CCCA:C	acceptor_loss	0.9900

AlphaMissense

1620 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:830809:G:C	W154C	0.999
19:830809:G:T	W154C	0.999
19:831835:G:C	W238C	0.997
19:831835:G:T	W238C	0.997
19:830792:T:A	C149S	0.996
19:830793:G:C	C149S	0.996
19:830792:T:C	C149R	0.992
19:830807:T:A	W154R	0.992
19:830807:T:C	W154R	0.992
19:830936:T:A	C197S	0.992
19:830937:G:C	C197S	0.992
19:828326:G:A	C52Y	0.991
19:830903:T:A	C186S	0.991
19:830904:G:C	C186S	0.991
19:831725:G:T	G202C	0.991
19:831735:T:A	L205H	0.991
19:828289:T:C	F40L	0.990
19:828291:C:A	F40L	0.990
19:828291:C:G	F40L	0.990
19:828325:T:A	C52S	0.990
19:828326:G:C	C52S	0.990
19:828352:T:C	F61L	0.990
19:828354:C:A	F61L	0.990
19:828354:C:G	F61L	0.990
19:829690:A:T	D115V	0.990
19:830885:T:A	C180S	0.990
19:830886:G:C	C180S	0.990
19:830937:G:A	C197Y	0.990
19:828374:G:A	C68Y	0.989
19:830794:C:G	C149W	0.989

dbSNP variants (sampled 300 via entrez): RS1000492770 (19:826848 T>C), RS1000801998 (19:830545 G>C), RS1000876627 (19:827093 A>C), RS1001359080 (19:827492 C>T), RS1001369181 (19:827376 C>A), RS1002734720 (19:826877 G>A,T), RS1002953317 (19:831962 C>A,T), RS1003607412 (19:828056 G>A), RS1004368310 (19:825949 C>G,T), RS1004431927 (19:826121 T>C), RS1004834672 (19:829423 T>C), RS1005489330 (19:831246 A>T), RS1005681899 (19:828580 G>A,C,T), RS1005826398 (19:830253 C>G,T), RS1006845240 (19:826826 G>A,T)

Disease associations

OMIM: gene MIM:162815 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST006585_342	Blood protein levels	1.000000e-15

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Tretinoin	increases expression, decreases expression, increases reaction	3
sodium arsenite	increases expression	2
Cisplatin	decreases expression, affects cotreatment, increases expression	2
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
tributyltin	decreases expression	1
ochratoxin A	increases expression	1
aflatoxin B2	increases methylation	1
cobalt oxide	increases expression	1
tamibarotene	increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
licochalcone B	increases expression	1
jinfukang	affects cotreatment, increases expression	1
PF 3758309	decreases expression	1
Arsenic Trioxide	decreases expression, increases reaction	1
Acetaminophen	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Estradiol	increases expression	1
Smoke	increases abundance, increases expression	1
Thiram	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases methylation	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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