PGLYRP1

Summary

PGLYRP1 (peptidoglycan recognition protein 1, HGNC:8904) is a protein-coding gene on chromosome 19q13.32, encoding Peptidoglycan recognition protein 1 (O75594). Innate immunity protein that plays several important functions in antimicrobial and antitumor defense systems.

Enables several functions, including Hsp70 protein binding activity; peptidoglycan binding activity; and peptidoglycan immune receptor activity. Involved in antimicrobial humoral immune response mediated by antimicrobial peptide; defense response to Gram-positive bacterium; and detection of bacterium. Located in extracellular exosome. Is active in extracellular space.

Source: NCBI Gene 8993 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 42 total
• MANE Select transcript: NM_005091

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8904
Approved symbol	PGLYRP1
Name	peptidoglycan recognition protein 1
Location	19q13.32
Locus type	gene with protein product
Status	Approved
Aliases	TAG7, PGRP, PGRP-S, PGRPS
Ensembl gene	ENSG00000008438
Ensembl biotype	protein_coding
OMIM	604963
Entrez	8993

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000008938

RefSeq mRNA: 1 — MANE Select: NM_005091 NM_005091

CCDS: CCDS12680

Canonical transcript exons

ENST00000008938 — 3 exons

Exon	Start	End
ENSE00000713801	46019526	46019647
ENSE00000858278	46019153	46019419
ENSE00000858279	46022735	46023053

Expression profiles

Bgee: expression breadth ubiquitous, 152 present calls, max score 98.04.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 8.4228 / max 6241.1491, expressed in 56 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
181601	8.3426	54
181602	0.0802	17

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bone marrow	UBERON:0002371	98.04	gold quality
bone marrow cell	CL:0002092	97.79	gold quality
trabecular bone tissue	UBERON:0002483	96.88	gold quality
blood	UBERON:0000178	91.40	gold quality
granulocyte	CL:0000094	84.59	gold quality
spleen	UBERON:0002106	82.93	gold quality
leukocyte	CL:0000738	80.74	gold quality
monocyte	CL:0000576	80.61	gold quality
mononuclear cell	CL:0000842	80.55	gold quality
right lung	UBERON:0002167	71.79	gold quality
upper lobe of left lung	UBERON:0008952	70.39	gold quality
upper lobe of lung	UBERON:0008948	67.81	gold quality
right lobe of liver	UBERON:0001114	65.86	gold quality
gluteal muscle	UBERON:0002000	64.03	gold quality
triceps brachii	UBERON:0001509	63.83	gold quality
periodontal ligament	UBERON:0008266	63.41	gold quality
vastus lateralis	UBERON:0001379	62.72	gold quality
quadriceps femoris	UBERON:0001377	62.52	gold quality
stromal cell of endometrium	CL:0002255	62.41	gold quality
vermiform appendix	UBERON:0001154	62.28	gold quality
diaphragm	UBERON:0001103	61.43	gold quality
nasal cavity epithelium	UBERON:0005384	61.39	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	60.86	gold quality
right hemisphere of cerebellum	UBERON:0014890	59.76	gold quality
cerebellar cortex	UBERON:0002129	59.39	gold quality
cerebellar hemisphere	UBERON:0002245	59.29	gold quality
caecum	UBERON:0001153	58.91	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	58.85	silver quality
cerebellum	UBERON:0002037	58.58	gold quality
biceps brachii	UBERON:0001507	58.12	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-MTAB-9801	yes	3593.28
E-CURD-112	yes	3085.89
E-MTAB-9067	yes	1456.42
E-ANND-3	yes	20.69

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 37)

• Various types of human blood cells were tested for expression of the Tag7/PGRP-SA and TagL/PGRP-L proteins, which belong to the family of proteins possessing the lysozyme-like peptidoglycan recognition protein (PGRP) domain (PMID:12669421)
• identification as an N-acetylmuramoyl-l-alanine amidase and this function is conserved in prokaryotes, insects, and mammals (PMID:14506276)
• Peptidoglycan recognition protein tag7 forms a cytotoxic complex with heat shock protein 70 in solution and in lymphocytes. (PMID:14585845)
• crystal structure of the C-terminal PGN-binding domain of PGRP-Ialpha in two oligomeric states, monomer and dimer (PMID:15140887)
• determined the crystal structure, at 2.30-A resolution, of the C-terminal PGN-binding domain of human PGRP-Ialpha in complex with a muramyl tripeptide representing the core of lysine-type PGNs from Gram-positive bacteria (PMID:15572450)
• crystal structure of peptidoglycan recognition protein S (PMID:15769462)
• human PGRP-S plays a role in innate immunity in the context of neutrophils by contributing to the killing of intracellular and extracellular bacteria (PMID:15956276)
• Association of psoriasis to PGLYRP and SPRR genes at PSORS4 locus on 1q shows heterogeneity between Finnish, Swedish and Irish families. (PMID:18643845)
• peptidoglycan recognition protein-1 has a role in coronary and peripheral atherosclerosis (PMID:18774573)
• Data show that removal of both Tag7 and S100A4 from neutrophil conditioned medium reduced lysis of E. coli, while addition of the Tag7-S100A4 complex to the medium restored antibacterial activity. (PMID:19023966)
• S100A4 has opposite roles in Tag7 and Hsp70- mediated tumoricidal mechanisms (PMID:19666596)
• HspBP1 inhibited the cytotoxic activity of the Tag7-Hsp70 complex secreted by lymphocytes. HspBP1 (PMID:21247889)
• The PGRP-S promoter provides a useful reporter of M cell mucosal epithelium lineage commitment, corresponding to the expression of PGRP in M cells. (PMID:21984701)
• shown that HspBP1 binds Tag7 in the conditioned medium of tumor CSML0 cells, thereby preventing formation of the cytotoxic Tag7-Hsp70 complex (PMID:22037021)
• The association study in a discovery sample of 200 French trio families revealed a significant association with rheumatoid arthritis for one SNP, PGLYRP1-rs2041992 (p = 0.019). (PMID:25221852)
• The role for PGLYRP1 as a TREM-1 activator provides a new mechanism by which bacteria can trigger myeloid cells, linking two known, but previously unrelated, pathways in innate immunity. (PMID:25595774)
• Tag7, can bind to the TNFR1 receptor, thereby inhibiting the cytotoxic actions of the Tag7-Hsp70 complex and TNF-alpha, an acquired immunity cytokine. (PMID:26183779)
• Tag7-Mts1 complex causes chemotactic migration of lymphocytes, with NK cells being a preferred target. (PMID:26654597)
• interaction of Tag7-Hsp70 with the TNFR1 receptor triggered a certain sequence of events: at first, it activated RIP1 kinase, and later on, increased intracellular concentration of capital ES, Cyrillicsmall a, Cyrillic(2+) ions and an activation of calpains, which led to the permeabilization of the lysosomal membranes (PMID:26796882)
• The interaction of Fas receptor with FasL leads to an activation of the Tag7-Hsp70 complex in the lymphocyte membrane fraction, and here FasL acts as a receptor that induces intracellular signaling in lymphocytes.An interaction of the MicA stress ligand with the NKG2D receptor is necessary for the release of this cytotoxic complex (PMID:27868339)
• the results of this study provide evidence for a novel role of the Tag7 protein in the immune response (PMID:28977785)
• Tag7 activates lymphocytes capable of Fasl-Fas-dependent contact killing of virus-infected cells. (PMID:29083508)
• this study shows that Tag7 can induce the CD3+CD4+CD25+CD127+ cells with antitumor activity (PMID:29850628)
• High PGLYRP1 expression is associated with rheumatoid arthritis. (PMID:30431075)
• It was found that the incubation of lymphocytes with Tag7 for 3 days promotes the appearance of cytotoxic NK cells that are active against a number of tumor cell lines. (PMID:31012024)
• The modulation of the TREM-1/PGLYRP1/MMP-8 axis in peri-implant diseases. (PMID:31444693)
• Smoking might have a suppressive effect on GCF PGRP-1 levels in chronic periodontitis (CP). Initial periodontal therapy is effective in decreasing GCF PGRP-1 levels in both smokers and non-smokers with CP. (PMID:31587460)
• Regulation of Salivary Peptidoglycan Recognition Protein 1 in Adolescents. (PMID:31860804)
• A human secretome library screen reveals a role for Peptidoglycan Recognition Protein 1 in Lyme borreliosis. (PMID:33175909)
• Inhibition of Chlamydial Infection by CRISPR/Cas9-SAM Mediated Enhancement of Human Peptidoglycan Recognition Proteins Gene Expression in HeLa Cells. (PMID:33280575)
• Cytokines TNFalpha, IFNgamma and IL-2 Are Responsible for Signal Transmission from the Innate Immunity Protein Tag7 (PGLYRP1) to Cytotoxic Effector Lymphocytes. (PMID:33291689)
• Circulating PGLYRP1 Levels as a Potential Biomarker for Coronary Artery Disease and Heart Failure. (PMID:33760799)
• Association of peptidoglycan recognition protein 1 to post-myocardial infarction and periodontal inflammation: A subgroup report from the PAROKRANK (Periodontal Disease and the Relation to Myocardial Infarction) study. (PMID:35344208)
• TNF upregulates peptidoglycan recognition protein 1 in esophageal cancer cells to clear the path to its signaling: Making the ““enemy”” a friend. (PMID:35367194)
• N-Terminal Peptide of PGLYRP1/Tag7 Is a Novel Ligand for TREM-1 Receptor. (PMID:35628562)
• Value of gingival crevicular fluid TREM-1, PGLYRP1, and IL-1beta levels during menopause. (PMID:37529985)
• The microglial innate immune protein PGLYRP1 mediates neuroinflammation and consequent behavioral changes. (PMID:38393947)

Cross-species orthologs

13 orthologs

Organism	Symbol	Gene ID
danio_rerio	pglyrp5	ENSDARG00000068382
mus_musculus	Pglyrp1	ENSMUSG00000030413
rattus_norvegicus	Pglyrp1	ENSRNOG00000013395
drosophila_melanogaster	PGRP-SA	FBGN0030310
drosophila_melanogaster	PGRP-LE	FBGN0030695
drosophila_melanogaster	PGRP-SC1b	FBGN0033327
drosophila_melanogaster	PGRP-SD	FBGN0035806
drosophila_melanogaster	PGRP-LF	FBGN0035977
drosophila_melanogaster	PGRP-SC2	FBGN0043575
drosophila_melanogaster	PGRP-SC1a	FBGN0043576
drosophila_melanogaster	PGRP-SB2	FBGN0043577
drosophila_melanogaster	PGRP-SB1	FBGN0043578
drosophila_melanogaster	PGRP-LD	FBGN0260458

Paralogs (3): PGLYRP3 (ENSG00000159527), PGLYRP2 (ENSG00000161031), PGLYRP4 (ENSG00000163218)

Protein

Protein identifiers

Peptidoglycan recognition protein 1 — O75594 (reviewed: O75594)

Alternative names: Peptidoglycan recognition protein short

All UniProt accessions (1): O75594

UniProt curated annotations — full annotation on UniProt →

Function. Innate immunity protein that plays several important functions in antimicrobial and antitumor defense systems. Acts as a pattern receptor that binds to murein peptidoglycans (PGN) of Gram-positive bacteria and thus provides bactericidal activity. Forms an equimolar complex with heat shock protein HSPA1A and induces programmed cell death through apoptosis and necroptosis in tumor cell lines by activating the TNFR1 receptor on the target cell membrane. In addition, acts in complex with the Ca(2+)-binding protein S100A4 as a chemoattractant able to induce lymphocyte movement. Mechanistically, this complex acts as a ligand of the chemotactic receptors CCR5 and CXCR3 which are present on the cells of the immune system. Also promotes the activation of lymphocytes that become able to kill virus-infected cells as well as tumor cells by modulating the spectrum of their target-cell specificity. Induction of cytotoxicity on monocyte surface requires interaction with TREM1 receptor.

Subunit / interactions. Homodimer; disulfide-linked. Interacts with HSPA1A; this interaction forms a cytotoxic complex that is released by lymphokine-activated killer cells. Interacts with HSPBP1; this interaction blocks the cytotoxic activity of the PGLYRP1-HSPA1A complex. Interacts with TNFRSF1A; this interaction is important for cell death induction. Interacts with S100A4; this complex acts as a chemoattractant that promotes lymphocyte movement. Interacts with TREM1.

Subcellular location. Secreted. Cytoplasmic granule.

Tissue specificity. Highly expressed in bone marrow. Weak expression found in kidney, liver, small intestine, spleen, thymus, peripheral leukocyte, lung, fetal spleen and neutrophils.

Post-translational modifications. N-glycosylated. N-glycosylation is required for bactericidal activity.

Similarity. Belongs to the N-acetylmuramoyl-L-alanine amidase 2 family.

RefSeq proteins (1): NP_005082* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002502	Amidase_domain	Domain
IPR006619	PGRP_domain_met/bac	Domain
IPR015510	PGRP	Family
IPR017331	Peptidoglycan_recognition	Family
IPR036505	Amidase/PGRP_sf	Homologous_superfamily

Pfam: PF01510

UniProt features (25 total): strand 8, helix 6, disulfide bond 3, turn 2, signal peptide 1, chain 1, domain 1, modified residue 1, glycosylation site 1, sequence variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
1YCK	X-RAY DIFFRACTION	1.7

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75594-F1	91.23	0.83

Functional residue map

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

Post-translational modifications (1): 22

Disulfide bonds (3): 30–154, 46–91, 67–73

Glycosylation sites (1): 112

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-6798695	Neutrophil degranulation
R-HSA-6803157	Antimicrobial peptides

MSigDB gene sets: 271 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_DN, GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT, GOBP_NATURAL_KILLER_CELL_DIFFERENTIATION, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, GOBP_INFLAMMATORY_RESPONSE, GOCC_SECRETORY_GRANULE, MODULE_64, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, IVANOVA_HEMATOPOIESIS_MATURE_CELL, GOBP_DETECTION_OF_OTHER_ORGANISM, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOLDRATH_ANTIGEN_RESPONSE

GO Biological Process (15): immune response (GO:0006955), peptidoglycan catabolic process (GO:0009253), detection of bacterium (GO:0016045), killing of cells of another organism (GO:0031640), negative regulation of type II interferon production (GO:0032689), obsolete negative regulation of natural killer cell differentiation involved in immune response (GO:0032827), defense response to bacterium (GO:0042742), innate immune response (GO:0045087), negative regulation of inflammatory response (GO:0050728), defense response to Gram-positive bacterium (GO:0050830), biological process involved in interaction with host (GO:0051701), antimicrobial humoral immune response mediated by antimicrobial peptide (GO:0061844), immune system process (GO:0002376), signal transduction (GO:0007165), response to bacterium (GO:0009617)

GO Molecular Function (7): zinc ion binding (GO:0008270), N-acetylmuramoyl-L-alanine amidase activity (GO:0008745), peptidoglycan immune receptor activity (GO:0016019), Hsp70 protein binding (GO:0030544), peptidoglycan binding (GO:0042834), receptor ligand activity (GO:0048018), molecular adaptor activity (GO:0060090)

GO Cellular Component (6): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), specific granule lumen (GO:0035580), extracellular exosome (GO:0070062), phagocytic vesicle lumen (GO:0097013), tertiary granule lumen (GO:1904724)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Innate Immune System	2

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
response to bacterium	2
immune system process	1
response to stimulus	1
peptidoglycan metabolic process	1
glycosaminoglycan catabolic process	1
detection of other organism	1
cell killing	1
disruption of cell in another organism	1
negative regulation of cytokine production	1
type II interferon production	1
regulation of type II interferon production	1
defense response	1
immune response	1
defense response to symbiont	1
inflammatory response	1
negative regulation of defense response	1
negative regulation of response to external stimulus	1
regulation of inflammatory response	1
defense response to bacterium	1
biological process involved in symbiotic interaction	1
antimicrobial humoral response	1
biological_process	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
response to other organism	1
transition metal ion binding	1
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	1
peptidoglycan muralytic activity	1
pattern recognition receptor activity	1
peptidoglycan binding	1
heat shock protein binding	1
protein-folding chaperone binding	1
glycosaminoglycan binding	1
signaling receptor binding	1
signal transduction	1
signaling receptor activator activity	1
molecular_function	1

Protein interactions and networks

STRING

1154 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PGLYRP1	HSPA4	P34932	961
PGLYRP1	TREM1	Q9NP99	915
PGLYRP1	NOD1	Q9Y239	724
PGLYRP1	LTF	P02788	705
PGLYRP1	CTSG	P08311	698
PGLYRP1	NOD2	Q9HC29	692
PGLYRP1	DLG5	Q8TDM6	656
PGLYRP1	DEFA4	P12838	654
PGLYRP1	SLPI	P03973	593
PGLYRP1	MPO	P05164	589
PGLYRP1	LCN2	P30150	587
PGLYRP1	TNFRSF1A	P19438	579
PGLYRP1	MMP8	P22894	557
PGLYRP1	TECR	Q9NZ01	542
PGLYRP1	AZU1	P20160	536
PGLYRP1	OLFM4	Q6UX06	536

IntAct

7 interactions, top by confidence:

A	B	Type	Score
PGLYRP1	IFNA2	psi-mi:“MI:0914”(association)	0.530
YWHAZ	PGLYRP1	psi-mi:“MI:0915”(physical association)	0.400
LIMK2	HAX1	psi-mi:“MI:0914”(association)	0.350
KLK10	IGLL5	psi-mi:“MI:0914”(association)	0.350
INSR	BLTP3B	psi-mi:“MI:0914”(association)	0.350

BioGRID (11): IFNA2 (Affinity Capture-MS), CNRIP1 (Affinity Capture-MS), IFNA2 (Affinity Capture-MS), CNRIP1 (Affinity Capture-MS), IFNA2 (Affinity Capture-MS), CNRIP1 (Affinity Capture-MS), PGLYRP1 (Affinity Capture-MS), PGLYRP1 (Affinity Capture-MS), PGLYRP1 (Reconstituted Complex), PGLYRP1 (Co-fractionation), PGLYRP1 (Co-purification)

ESM2 similar proteins: A1A547, A6QPN6, D2GZV9, E1BPW0, O18956, O75356, O75594, O93295, P10852, P15396, P22413, P49961, P55772, P57110, P70665, P82450, P97535, P97687, Q0V8L2, Q0VB07, Q53H76, Q58CQ9, Q5E9H0, Q5R5M5, Q5RBQ5, Q5RFU0, Q67BJ4, Q6P6S9, Q6YGZ1, Q71RP1, Q794F9, Q8K0L2, Q8TE60, Q8VI78, Q95194, Q96LB8, Q96LB9, Q99JP7, Q99MZ4, Q9HAT2

Diamond homologs: A1A547, B5T255, C0HK98, C0HK99, D1L2U8, O75594, O76537, O88593, P00806, P20331, Q0VB07, Q3ZFI3, Q70PR8, Q70PU1, Q70PU2, Q70PW6, Q70PY2, Q765P2, Q765P3, Q765P4, Q866Y3, Q8INK6, Q8SPP7, Q8VCS0, Q96LB8, Q96LB9, Q96PD5, Q9GK12, Q9GNK5, Q9JLN4, Q9V4X2, Q9VS97, Q9VV96, Q9VXN9, Q9VYX7, Q9XTN0, Q8SXQ7, Q95T64, O05071, Q9GN97

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	33
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

239 predictions. Top by Δscore:

Variant	Effect	Δscore
19:46019520:ACTC:A	donor_loss	1.0000
19:46019522:TCA:T	donor_loss	1.0000
19:46019523:CACCC:C	donor_loss	1.0000
19:46019524:A:AC	donor_gain	1.0000
19:46019524:A:T	donor_loss	1.0000
19:46019524:AC:A	donor_gain	1.0000
19:46019524:ACC:A	donor_gain	1.0000
19:46019525:C:CC	donor_gain	1.0000
19:46019525:C:CT	donor_loss	1.0000
19:46019525:CC:C	donor_gain	1.0000
19:46019525:CCC:C	donor_gain	1.0000
19:46019643:GGAAG:G	acceptor_gain	1.0000
19:46019644:GAAG:G	acceptor_gain	1.0000
19:46019645:AAG:A	acceptor_gain	1.0000
19:46019646:AG:A	acceptor_gain	1.0000
19:46019647:GC:G	acceptor_loss	1.0000
19:46019648:C:CC	acceptor_gain	1.0000
19:46019648:C:CG	acceptor_loss	1.0000
19:46019651:C:CT	acceptor_gain	1.0000
19:46019652:A:AC	acceptor_gain	1.0000
19:46019652:A:C	acceptor_gain	1.0000
19:46022731:TCAC:T	donor_loss	1.0000
19:46022732:CA:C	donor_loss	1.0000
19:46022733:A:AC	donor_gain	1.0000
19:46022733:AC:A	donor_loss	1.0000
19:46022734:C:CA	donor_gain	1.0000
19:46019420:C:CC	acceptor_gain	0.9900
19:46019519:CACT:C	donor_loss	0.9900
19:46019525:CCCA:C	donor_gain	0.9900
19:46019525:CCCAT:C	donor_gain	0.9900

AlphaMissense

1264 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:46022905:C:A	W39C	0.994
19:46022905:C:G	W39C	0.994
19:46019644:G:C	F97L	0.992
19:46019644:G:T	F97L	0.992
19:46019646:A:G	F97L	0.992
19:46019545:G:C	S130R	0.991
19:46019545:G:T	S130R	0.991
19:46019547:T:G	S130R	0.991
19:46019602:C:A	W111C	0.987
19:46019602:C:G	W111C	0.987
19:46019647:G:C	N96K	0.987
19:46019647:G:T	N96K	0.987
19:46019645:A:G	F97S	0.983
19:46019645:A:C	F97C	0.981
19:46019543:A:G	F131S	0.980
19:46019290:C:A	G180V	0.978
19:46019537:C:A	G133V	0.977
19:46019538:C:A	G133C	0.977
19:46019542:G:C	F131L	0.976
19:46019542:G:T	F131L	0.976
19:46019544:A:G	F131L	0.976
19:46022907:A:G	W39R	0.976
19:46022907:A:T	W39R	0.976
19:46019259:C:A	W190C	0.975
19:46019259:C:G	W190C	0.975
19:46019604:A:G	W111R	0.972
19:46019604:A:T	W111R	0.972
19:46019538:C:G	G133R	0.969
19:46019291:C:A	G180C	0.967
19:46019317:C:G	R171P	0.966

dbSNP variants (sampled 300 via entrez): RS1000398772 (19:46024133 G>A), RS1000516432 (19:46022395 C>T), RS1000590038 (19:46022536 G>A,C), RS1001189778 (19:46020422 CTT>C), RS1001232907 (19:46023556 T>C), RS1002075228 (19:46019837 C>G), RS1002190816 (19:46021366 T>G), RS1002811171 (19:46019493 G>GC), RS1003423746 (19:46024260 C>T), RS1003521784 (19:46022335 A>G,T), RS1003573973 (19:46022084 G>A), RS1004098341 (19:46022021 C>G,T), RS1004150668 (19:46021818 G>A,C,T), RS1005100644 (19:46023122 T>C), RS1005251803 (19:46024552 A>C)

Disease associations

OMIM: gene MIM:604963 | 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_327	Blood protein levels	1.000000e-17

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases methylation	1
tetrabromobisphenol A	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
bis-N,N-dimethylamino-2-(N-methylpyrrolyl)methyl cyclopentadienyl titanium (IV)	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Norethindrone Acetate	affects cotreatment, increases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	increases expression, increases abundance	1
Benzo(a)pyrene	decreases methylation	1
Cisplatin	decreases expression	1
Estradiol	affects cotreatment, increases expression	1
Fluorouracil	affects reaction, decreases expression	1
Lead	affects methylation	1
Valproic Acid	increases methylation	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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