PGLYRP2
gene geneOn this page
Also known as PGRP-LPGLYRPLTAGL-liketagLtagL-alphatagl-betaPGRPL
Summary
PGLYRP2 (peptidoglycan recognition protein 2, HGNC:30013) is a protein-coding gene on chromosome 19p13.12, encoding N-acetylmuramoyl-L-alanine amidase (Q96PD5). May play a scavenger role by digesting biologically active peptidoglycan (PGN) into biologically inactive fragments.
This gene encodes a peptidoglycan recognition protein, which belongs to the N-acetylmuramoyl-L-alanine amidase 2 family. This protein hydrolyzes the link between N-acetylmuramoyl residues and L-amino acid residues in bacterial cell wall glycopeptides, and thus may play a scavenger role by digesting biologically active peptidoglycan into biologically inactive fragments.
Source: NCBI Gene 114770 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 75 total
- MANE Select transcript:
NM_052890
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30013 |
| Approved symbol | PGLYRP2 |
| Name | peptidoglycan recognition protein 2 |
| Location | 19p13.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL |
| Ensembl gene | ENSG00000161031 |
| Ensembl biotype | protein_coding |
| OMIM | 608199 |
| Entrez | 114770 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 14 protein_coding
ENST00000292609, ENST00000340880, ENST00000594637, ENST00000601792, ENST00000851089, ENST00000851090, ENST00000851091, ENST00000851092, ENST00000851093, ENST00000851094, ENST00000851095, ENST00000851096, ENST00000851097, ENST00000969569
RefSeq mRNA: 2 — MANE Select: NM_052890
NM_001363546, NM_052890
CCDS: CCDS12330, CCDS86718
Canonical transcript exons
ENST00000340880 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001056042 | 15475538 | 15476608 |
| ENSE00001056045 | 15471890 | 15472100 |
| ENSE00001367676 | 15468645 | 15468752 |
| ENSE00001368612 | 15469632 | 15469929 |
| ENSE00003098255 | 15479311 | 15479501 |
Expression profiles
Bgee: expression breadth broad, 46 present calls, max score 95.98.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.7899 / max 348.6537, expressed in 42 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 179755 | 0.4166 | 16 |
| 179758 | 0.2518 | 20 |
| 179756 | 0.0851 | 10 |
| 179757 | 0.0365 | 8 |
Top tissues by expression
220 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 95.98 | gold quality |
| liver | UBERON:0002107 | 95.25 | gold quality |
| pancreatic ductal cell | CL:0002079 | 71.12 | silver quality |
| left testis | UBERON:0004533 | 69.36 | gold quality |
| right testis | UBERON:0004534 | 68.75 | gold quality |
| testis | UBERON:0000473 | 67.48 | gold quality |
| tibialis anterior | UBERON:0001385 | 63.96 | silver quality |
| secondary oocyte | CL:0000655 | 60.96 | gold quality |
| ileal mucosa | UBERON:0000331 | 59.99 | silver quality |
| granulocyte | CL:0000094 | 58.44 | gold quality |
| buccal mucosa cell | CL:0002336 | 56.82 | gold quality |
| deltoid | UBERON:0001476 | 56.09 | silver quality |
| epithelial cell of pancreas | CL:0000083 | 56.00 | gold quality |
| adult organism | UBERON:0007023 | 55.77 | silver quality |
| bone marrow cell | CL:0002092 | 54.76 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 54.34 | gold quality |
| monocyte | CL:0000576 | 54.33 | gold quality |
| leukocyte | CL:0000738 | 54.27 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 54.23 | gold quality |
| kidney epithelium | UBERON:0004819 | 53.93 | gold quality |
| upper arm skin | UBERON:0004263 | 53.52 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 50.64 | gold quality |
| colonic epithelium | UBERON:0000397 | 50.43 | gold quality |
| myocardium | UBERON:0002349 | 50.25 | gold quality |
| blood | UBERON:0000178 | 50.11 | gold quality |
| quadriceps femoris | UBERON:0001377 | 48.37 | gold quality |
| upper leg skin | UBERON:0004262 | 47.26 | silver quality |
| nasal cavity epithelium | UBERON:0005384 | 47.03 | gold quality |
| skin of hip | UBERON:0001554 | 46.74 | silver quality |
| vastus lateralis | UBERON:0001379 | 46.61 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-100618 | no | 77.55 |
| E-ANND-3 | no | 2.12 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ATF2, NFKB1, NFKB, SP1
Literature-anchored findings (GeneRIF, showing 12)
- 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)
- Serum N-acetylmuramoyl-l-alanine amidaseand liver PGLYRP2 are the same protein encoded by the pglyrp2 gene. (PMID:16054449)
- PGLYRP2 may function in the skin and the eyes as an inducible scavenger of proinflammatory peptidoglycan. (PMID:16239516)
- pglyrp2 expression in skin and liver is important for systemic and local innate immune responses to bacterial infections (PMID:16714290)
- This study demonistrated that PGLYRP2 single-nucleotide polymorphisms is risk of Parkinson’s disease. (PMID:24838182)
- a significant induction of three PGLYRPs 2-4 in primary human corneal epithelial cells (HCECs) exposed to live or heat-killed Candida albicans, is reported. (PMID:26039076)
- The expression of IL-36gamma by oral epithelial cells in response to P. gingivalis might enable the subsequent autocrine stimulation of PGLYRP2 expression. Our data identify how IL-36gamma may promote oral mucosal homeostasis by regulating PGLYRP2 expression. (PMID:29914927)
- Tumor-Derived Peptidoglycan Recognition Protein 2 Predicts Survival and Antitumor Immune Responses in Hepatocellular Carcinoma. (PMID:31479523)
- Serum sCD14, PGLYRP2 and FGA as potential biomarkers for multidrug-resistant tuberculosis based on data-independent acquisition and targeted proteomics. (PMID:32967043)
- Antibody to peptidoglycan recognition protein (PGLYRP)-2 as a novel biomarker in rheumatoid arthritis. (PMID:33427621)
- PGLYRP2 as a novel biomarker for the activity and lipid metabolism of systemic lupus erythematosus. (PMID:34461924)
- Association of PGLYRP2 gene polymorphism and sporadic Parkinson’s disease in northern Chinese Han population. (PMID:35218888)
Cross-species orthologs
14 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pglyrp2 | ENSDARG00000062998 |
| danio_rerio | pglyrp6 | ENSDARG00000103642 |
| mus_musculus | Pglyrp2 | ENSMUSG00000079563 |
| rattus_norvegicus | Pglyrp2 | ENSRNOG00000042318 |
| 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): PGLYRP1 (ENSG00000008438), PGLYRP3 (ENSG00000159527), PGLYRP4 (ENSG00000163218)
Protein
Protein identifiers
N-acetylmuramoyl-L-alanine amidase — Q96PD5 (reviewed: Q96PD5)
Alternative names: Peptidoglycan recognition protein 2, Peptidoglycan recognition protein long
All UniProt accessions (3): Q96PD5, M0QYW3, M0R2W8
UniProt curated annotations — full annotation on UniProt →
Function. May play a scavenger role by digesting biologically active peptidoglycan (PGN) into biologically inactive fragments. Has no direct bacteriolytic activity.
Subcellular location. Secreted. Membrane.
Tissue specificity. Strongly expressed in liver and fetal liver, and secreted into serum. Expressed to a much lesser extent in transverse colon, lymph nodes, heart, thymus, pancreas, descending colon, stomach and testis. Isoform 2 is not detected in the liver or serum.
Miscellaneous. Major isoform. May be due to an intron retention.
Similarity. Belongs to the N-acetylmuramoyl-L-alanine amidase 2 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96PD5-1 | 1 | yes |
| Q96PD5-2 | 2 |
RefSeq proteins (2): NP_001350475, NP_443122* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002502 | Amidase_domain | Domain |
| IPR006619 | PGRP_domain_met/bac | Domain |
| IPR015510 | PGRP | Family |
| IPR036505 | Amidase/PGRP_sf | Homologous_superfamily |
Pfam: PF01510
Enzyme classification (BRENDA):
- EC 3.5.1.28 — N-acetylmuramoyl-L-alanine amidase (BRENDA: 55 organisms, 158 substrates, 76 inhibitors, 18 Km, 6 kcat entries)
Substrate kinetics (BRENDA)
14 substrates with measured Km, best-characterized 14. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| GLCNAC-MURNAC-L-ALA-D-ISOGLUTAMINYL-MESO-DIAMINO | 8–17 | 2 |
| 1,6-ANHYDRO-MURNAC-L-ALA-GAMMA-D-GLU-M-DAP | 0.36 | 1 |
| 1,6-ANHYDRO-MURNAC-L-ALA-GAMMA-D-GLU-M-DAP-D-ALA | 0.5 | 1 |
| 4-O-BETA-D-GLCNAC-1,6-ANHYDRO-MURNAC-L-ALA-GAMMA | 1.76 | 1 |
| 7-METHOXYCOUMARIN-4-YL-ACETYL-ALA-D-ISOGLN-LYS(2 | 0.2849 | 1 |
| 7-METHOXYCOUMARIN-4-YL-ACETYL-ALA-D-ISOGLU-LYS(2 | 0.3601 | 1 |
| BETA-N-ACETYLGLUCOSAMINYL-(1-4)-N,6-O-DIACETYLMU | 4 | 1 |
| BETA-N-ACETYLGLUCOSAMINYL-(1-4)-N,6-O-DIACETYLMU | 1.8 | 1 |
| BETA-N-ACETYLGLUCOSAMINYL-(1-4)-N-ACETYLMURAMOYL | 2.5 | 1 |
| BETA-N-ACETYLGLUCOSAMINYL-(1-4)-N-ACETYLMURAMOYL | 4 | 1 |
| BETA-N-ACETYLGLUCOSAMINYL-(1-4)-N-ACETYLMURAMOYL | 2 | 1 |
| GLCNAC-MURNAC-L-ALA-D-ISOGIN-MESO-DIAMINOPIMELYL | 2.5 | 1 |
| N-ACETYLMURAMOYL-L-ALANYL-D-GAMMA-GLUTAMINYL-MES | 0.04 | 1 |
| N-ACETYLMURAMOYL-L-ALANYL-GAMMA-D-GLUTAMINYL-MES | 0.5 | 1 |
UniProt features (31 total): sequence variant 6, mutagenesis site 6, modified residue 3, glycosylation site 3, sequence conflict 3, binding site 3, signal peptide 1, chain 1, disulfide bond 1, splice variant 1, domain 1, region of interest 1, site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96PD5-F1 | 79.20 | 0.58 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 447 (important for catalytic activity; essential for amidase activity and zinc hydrate coordination)
Ligand- & substrate-binding residues (3): 410; 522; 530
Post-translational modifications (3): 322, 239, 274
Disulfide bonds (1): 419–425
Glycosylation sites (3): 77, 367, 485
Mutagenesis-validated functional residues (6):
| Position | Phenotype |
|---|---|
| 411 | no effect on amidase activity. |
| 419 | abolishes amidase activity. |
| 436 | no effect on amidase activity. |
| 442 | reduced amidase activity. |
| 447 | abolishes amidase activity. |
| 530 | abolishes amidase activity. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-6803157 | Antimicrobial peptides |
MSigDB gene sets: 169 (showing top):
GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT, GOBP_NATURAL_KILLER_CELL_DIFFERENTIATION, REACTOME_INNATE_IMMUNE_SYSTEM, MODULE_255, GOBP_INFLAMMATORY_RESPONSE, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, MODULE_317, GOBP_DETECTION_OF_OTHER_ORGANISM, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_PEPTIDE_METABOLIC_PROCESS, GOBP_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE, GOBP_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION, GOBP_REGULATION_OF_IMMUNE_RESPONSE
GO Biological Process (12): peptide amidation (GO:0001519), immune response (GO:0006955), peptidoglycan catabolic process (GO:0009253), detection of bacterium (GO:0016045), 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), regulation of inflammatory response (GO:0050727), defense response to Gram-positive bacterium (GO:0050830), biological process involved in interaction with host (GO:0051701), immune system process (GO:0002376)
GO Molecular Function (8): zinc ion binding (GO:0008270), N-acetylmuramoyl-L-alanine amidase activity (GO:0008745), peptidoglycan immune receptor activity (GO:0016019), peptidoglycan binding (GO:0042834), molecular condensate scaffold activity (GO:0140693), protein binding (GO:0005515), hydrolase activity (GO:0016787), metal ion binding (GO:0046872)
GO Cellular Component (3): extracellular region (GO:0005576), membrane (GO:0016020), extracellular exosome (GO:0070062)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Innate Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| response to bacterium | 2 |
| cellular anatomical structure | 2 |
| peptide modification | 1 |
| immune system process | 1 |
| response to stimulus | 1 |
| peptidoglycan metabolic process | 1 |
| glycosaminoglycan catabolic process | 1 |
| detection of other 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 |
| regulation of defense response | 1 |
| regulation of response to external stimulus | 1 |
| defense response to bacterium | 1 |
| biological process involved in symbiotic interaction | 1 |
| biological_process | 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 |
| glycosaminoglycan binding | 1 |
| protein-macromolecule adaptor activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
578 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PGLYRP2 | SERPIND1 | P05546 | 513 |
| PGLYRP2 | AFM | P43652 | 508 |
| PGLYRP2 | AZGP1 | P25311 | 479 |
| PGLYRP2 | CFI | P05156 | 472 |
| PGLYRP2 | PGLYRP4 | Q96LB8 | 452 |
| PGLYRP2 | TECR | Q9NZ01 | 433 |
| PGLYRP2 | SUSD4 | Q5VX71 | 422 |
| PGLYRP2 | CCDC3 | Q9BQI4 | 406 |
| PGLYRP2 | PNLIP | P16233 | 397 |
| PGLYRP2 | GCSAM | Q8N6F7 | 389 |
| PGLYRP2 | PGLYRP3 | Q96LB9 | 388 |
| PGLYRP2 | CPN2 | P22792 | 381 |
| PGLYRP2 | LIPC | P11150 | 370 |
| PGLYRP2 | SCIN | Q9Y6U3 | 362 |
| PGLYRP2 | MGLL | Q99685 | 357 |
IntAct
3 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ORF60 | PGLYRP2 | psi-mi:“MI:0914”(association) | 0.350 |
| recN | PGLYRP2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (2): PGLYRP2 (Affinity Capture-MS), PGLYRP2 (Two-hybrid)
ESM2 similar proteins: A0A1B0GTW7, A0A1D5NSK0, A0A1L8HYT7, A0A286YEC0, D3ZT86, D3ZWJ9, D4A929, F8W3R9, G7PWZ3, I6M4H4, O08852, O43157, O43278, O75074, O88204, P17813, P49000, P59383, Q04912, Q17R55, Q499Z3, Q4R3B7, Q4TUC0, Q5ND34, Q62190, Q63961, Q6AXX1, Q76MJ5, Q7TN88, Q7TQH7, Q7Z442, Q7Z4F1, Q80W87, Q80YN4, Q866Y3, Q86VZ4, Q8BHW9, Q8BMN4, Q8BYI8, Q8BZT7
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
75 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 66 |
| Likely benign | 6 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
736 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:15469925:CGAAA:C | acceptor_gain | 1.0000 |
| 19:15469930:C:CC | acceptor_gain | 1.0000 |
| 19:15471884:TCCTA:T | donor_loss | 1.0000 |
| 19:15471885:CCTA:C | donor_loss | 1.0000 |
| 19:15471886:CTA:C | donor_loss | 1.0000 |
| 19:15471887:TA:T | donor_loss | 1.0000 |
| 19:15471888:A:AC | donor_gain | 1.0000 |
| 19:15471888:ACC:A | donor_loss | 1.0000 |
| 19:15471889:C:CC | donor_gain | 1.0000 |
| 19:15472096:GCATC:G | acceptor_gain | 1.0000 |
| 19:15472097:CATC:C | acceptor_gain | 1.0000 |
| 19:15472097:CATCC:C | acceptor_gain | 1.0000 |
| 19:15472098:ATC:A | acceptor_gain | 1.0000 |
| 19:15472098:ATCCT:A | acceptor_loss | 1.0000 |
| 19:15472099:TC:T | acceptor_gain | 1.0000 |
| 19:15472099:TCCT:T | acceptor_loss | 1.0000 |
| 19:15472100:CC:C | acceptor_gain | 1.0000 |
| 19:15472100:CCTAC:C | acceptor_loss | 1.0000 |
| 19:15472101:C:CA | acceptor_loss | 1.0000 |
| 19:15472101:C:CC | acceptor_gain | 1.0000 |
| 19:15472102:T:C | acceptor_loss | 1.0000 |
| 19:15472108:C:CT | acceptor_gain | 1.0000 |
| 19:15472109:A:T | acceptor_gain | 1.0000 |
| 19:15475466:C:A | donor_gain | 1.0000 |
| 19:15475531:T:TA | donor_gain | 1.0000 |
| 19:15475558:T:TA | donor_gain | 1.0000 |
| 19:15476604:GGAGG:G | acceptor_gain | 1.0000 |
| 19:15476605:GAGG:G | acceptor_gain | 1.0000 |
| 19:15476606:AGG:A | acceptor_gain | 1.0000 |
| 19:15476607:GG:G | acceptor_gain | 1.0000 |
AlphaMissense
3662 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:15472069:C:A | W388C | 0.995 |
| 19:15472069:C:G | W388C | 0.995 |
| 19:15475923:C:A | W249C | 0.988 |
| 19:15475923:C:G | W249C | 0.988 |
| 19:15472071:A:G | W388R | 0.986 |
| 19:15472071:A:T | W388R | 0.986 |
| 19:15469638:G:C | F545L | 0.982 |
| 19:15469638:G:T | F545L | 0.982 |
| 19:15469640:A:G | F545L | 0.982 |
| 19:15475837:T:A | D278V | 0.978 |
| 19:15469926:G:C | F449L | 0.977 |
| 19:15469926:G:T | F449L | 0.977 |
| 19:15469928:A:G | F449L | 0.977 |
| 19:15475838:C:G | D278H | 0.977 |
| 19:15475896:A:C | F258L | 0.975 |
| 19:15475896:A:T | F258L | 0.975 |
| 19:15475898:A:G | F258L | 0.975 |
| 19:15471907:C:A | W442C | 0.970 |
| 19:15471907:C:G | W442C | 0.970 |
| 19:15475555:A:G | F372S | 0.969 |
| 19:15469822:C:A | G484V | 0.968 |
| 19:15469884:C:A | W463C | 0.967 |
| 19:15469884:C:G | W463C | 0.967 |
| 19:15471934:C:A | Q433H | 0.966 |
| 19:15471934:C:G | Q433H | 0.966 |
| 19:15475925:A:G | W249R | 0.966 |
| 19:15475925:A:T | W249R | 0.966 |
| 19:15469927:A:C | F449C | 0.965 |
| 19:15472005:G:C | H410D | 0.965 |
| 19:15475722:G:C | S316R | 0.965 |
dbSNP variants (sampled 300 via entrez): RS1000072285 (19:15480558 G>A), RS1000114048 (19:15470890 C>T), RS1000226092 (19:15476851 C>T), RS1000615247 (19:15472044 G>A,C), RS1001066133 (19:15469623 A>G), RS1001446665 (19:15472342 C>A), RS1001549170 (19:15471281 T>A,C), RS1001706017 (19:15473858 A>G), RS1001897410 (19:15468844 G>A), RS1002017215 (19:15478895 T>A), RS1002046122 (19:15475201 T>C), RS1002096683 (19:15474797 A>G), RS1002117461 (19:15473428 T>C), RS1002123343 (19:15472451 A>C,G), RS1002393902 (19:15468504 G>A)
Disease associations
OMIM: gene MIM:608199 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006585_2277 | Blood protein levels | 2.000000e-47 |
| GCST90002388_45 | Lymphocyte count | 5.000000e-12 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004587 | lymphocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Aflatoxin B1 | affects expression, decreases expression, increases methylation | 3 |
| Benzo(a)pyrene | affects methylation, decreases expression | 2 |
| Estradiol | decreases expression, increases expression | 2 |
| Tetrachlorodibenzodioxin | affects cotreatment, decreases expression | 2 |
| Zinc | affects binding | 2 |
| lasiocarpine | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| abrine | increases expression | 1 |
| Bosentan | affects expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Chenodeoxycholic Acid | affects cotreatment, decreases expression | 1 |
| Copper | affects binding | 1 |
| Deoxycholic Acid | affects cotreatment, decreases expression | 1 |
| Diazinon | increases methylation | 1 |
| Endosulfan | affects cotreatment, decreases expression | 1 |
| Glycochenodeoxycholic Acid | affects cotreatment, decreases expression | 1 |
| Glycocholic Acid | affects cotreatment, decreases expression | 1 |
| Glycodeoxycholic Acid | affects cotreatment, decreases expression | 1 |
| Lipopolysaccharides | increases expression, affects response to substance, affects cotreatment | 1 |
| Methapyrilene | increases methylation | 1 |
| Nickel | affects binding | 1 |
| Triclosan | affects cotreatment, decreases expression | 1 |
| Valproic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.