PZP
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Also known as CPAMD6
Summary
PZP (PZP alpha-2-macroglobulin like, HGNC:9750) is a protein-coding gene on chromosome 12p13.31, encoding Pregnancy zone protein (P20742). Is able to inhibit all four classes of proteinases by a unique ’trapping’ mechanism.
The protein encoded by this gene is highly expressed in late-pregnancy serum and is similar in structure to alpha-2-macroglobulin. The encoded protein, which acts as a homotetramer, inhibits the activity of all four classes of proteinases. This protein contains cleavage sites for several proteinases. Upon binding of a proteinase, the conformation of this protein changes to trap the proteinase, limiting its activity. This protein appears to be elevated in the sera of presymptomatic Alzheimer’s disease patients.
Source: NCBI Gene 5858 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 9 total
- MANE Select transcript:
NM_002864
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9750 |
| Approved symbol | PZP |
| Name | PZP alpha-2-macroglobulin like |
| Location | 12p13.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CPAMD6 |
| Ensembl gene | ENSG00000126838 |
| Ensembl biotype | protein_coding |
| OMIM | 176420 |
| Entrez | 5858 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 6 protein_coding, 5 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000261336, ENST00000535230, ENST00000539983, ENST00000540995, ENST00000543108, ENST00000546116, ENST00000546197, ENST00000882536, ENST00000882537, ENST00000882538, ENST00000882539, ENST00000882540
RefSeq mRNA: 1 — MANE Select: NM_002864
NM_002864
CCDS: CCDS8600
Canonical transcript exons
ENST00000261336 — 36 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000718195 | 9202525 | 9202684 |
| ENSE00001161550 | 9208259 | 9208395 |
| ENSE00001634216 | 9202319 | 9202371 |
| ENSE00001787679 | 9203768 | 9203951 |
| ENSE00001906651 | 9148840 | 9148994 |
| ENSE00003463845 | 9158420 | 9158576 |
| ENSE00003464013 | 9157767 | 9157841 |
| ENSE00003481517 | 9150644 | 9150746 |
| ENSE00003487187 | 9151604 | 9151672 |
| ENSE00003487326 | 9149561 | 9149602 |
| ENSE00003502515 | 9164133 | 9164259 |
| ENSE00003503543 | 9168869 | 9168974 |
| ENSE00003506354 | 9152824 | 9152951 |
| ENSE00003509963 | 9153125 | 9153343 |
| ENSE00003511894 | 9192193 | 9192256 |
| ENSE00003517149 | 9159938 | 9160025 |
| ENSE00003542690 | 9165139 | 9165367 |
| ENSE00003543117 | 9163668 | 9163789 |
| ENSE00003546727 | 9169430 | 9169591 |
| ENSE00003557371 | 9200364 | 9200448 |
| ENSE00003576061 | 9194077 | 9194238 |
| ENSE00003576388 | 9200892 | 9201060 |
| ENSE00003582119 | 9197012 | 9197123 |
| ENSE00003605412 | 9181975 | 9182117 |
| ENSE00003605673 | 9180983 | 9181132 |
| ENSE00003611648 | 9152220 | 9152310 |
| ENSE00003616082 | 9154616 | 9154839 |
| ENSE00003619196 | 9157175 | 9157355 |
| ENSE00003623756 | 9166052 | 9166202 |
| ENSE00003633542 | 9161033 | 9161116 |
| ENSE00003637346 | 9192512 | 9192739 |
| ENSE00003644907 | 9160314 | 9160490 |
| ENSE00003647643 | 9196571 | 9196685 |
| ENSE00003650351 | 9162597 | 9162648 |
| ENSE00003668600 | 9201327 | 9201347 |
| ENSE00003673331 | 9196330 | 9196439 |
Expression profiles
Bgee: expression breadth ubiquitous, 178 present calls, max score 93.35.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2279 / max 142.8512, expressed in 24 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 129403 | 0.2028 | 22 |
| 129404 | 0.0251 | 6 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| bronchial epithelial cell | CL:0002328 | 93.35 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 92.69 | gold quality |
| bronchus | UBERON:0002185 | 91.66 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 87.74 | gold quality |
| liver | UBERON:0002107 | 84.80 | gold quality |
| right lobe of liver | UBERON:0001114 | 83.98 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 80.60 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 80.56 | gold quality |
| sperm | CL:0000019 | 78.86 | silver quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 78.75 | gold quality |
| male germ cell | CL:0000015 | 78.21 | silver quality |
| endothelial cell | CL:0000115 | 75.30 | silver quality |
| cervix squamous epithelium | UBERON:0006922 | 74.28 | gold quality |
| apex of heart | UBERON:0002098 | 74.24 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 72.20 | silver quality |
| hair follicle | UBERON:0002073 | 71.70 | gold quality |
| ileal mucosa | UBERON:0000331 | 70.80 | silver quality |
| olfactory bulb | UBERON:0002264 | 68.89 | gold quality |
| type B pancreatic cell | CL:0000169 | 68.78 | gold quality |
| diaphragm | UBERON:0001103 | 68.40 | gold quality |
| corpus callosum | UBERON:0002336 | 68.20 | gold quality |
| tibialis anterior | UBERON:0001385 | 68.15 | silver quality |
| calcaneal tendon | UBERON:0003701 | 68.14 | gold quality |
| sural nerve | UBERON:0015488 | 68.02 | gold quality |
| lung | UBERON:0002048 | 66.08 | gold quality |
| thymus | UBERON:0002370 | 66.02 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 65.66 | gold quality |
| endometrium epithelium | UBERON:0004811 | 65.63 | gold quality |
| pancreatic ductal cell | CL:0002079 | 65.50 | silver quality |
| epithelial cell of pancreas | CL:0000083 | 65.10 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-6 | yes | 111.82 |
| E-ANND-3 | yes | 8.75 |
| E-MTAB-7606 | no | 126.13 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
9 targeting PZP, 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-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-12123 | 99.52 | 71.79 | 2990 |
| HSA-MIR-122B-5P | 99.46 | 70.81 | 1457 |
| HSA-MIR-4291 | 99.20 | 68.88 | 2969 |
| HSA-MIR-892C-5P | 99.16 | 70.56 | 2116 |
| HSA-MIR-6868-3P | 98.63 | 69.64 | 2259 |
| HSA-MIR-506-5P | 98.02 | 67.41 | 1065 |
| HSA-MIR-5585-5P | 97.95 | 68.80 | 1024 |
| HSA-MIR-3976 | 96.67 | 67.79 | 1187 |
Literature-anchored findings (GeneRIF, showing 11)
- Differential binding to ldl receptor related protein (PMID:11811950)
- A new purification methodology was used on the C-terminal peptide fragment of PZP. (PMID:17257854)
- Quantitative measurements using a multiple reaction monitoring assay showed a significant increase in plasma pregnancy-zone protein in presymptomatic Alzheimer disease compared with controls (PMID:21879768)
- The data of this study link the finding of elevated serum PZP levels with the characteristic Alzheimer’s Disease pathology and identify PZP as a novel component in Alzheimer’s Disease. (PMID:25737043)
- Inflammation-associated LRG and PZP may be novel biomarkers of early-onset myocardial infarction (PMID:30411527)
- stabilizes misfolded proteins including preeclampsia- and Alzheimer’s-associated amyloid beta peptide (PMID:30850528)
- Genetic ablation of pregnancy zone protein promotes breast cancer progression by activating TGF-beta/SMAD signaling. (PMID:33057846)
- Pregnancy Zone Protein (PZP) is significantly upregulated in the decidua of recurrent and spontaneous miscarriage and negatively correlated to Glycodelin A (GdA). (PMID:33388716)
- Hypermethylation of the PZP gene is associated with hepatocellular carcinoma cell proliferation, invasion and migration. (PMID:33471436)
- The Pregnancy Zone Protein (PZP) is significantly downregulated in the placenta of preeclampsia and HELLP syndrome patients. (PMID:35843132)
- High-Level Secretion of Pregnancy Zone Protein Is a Novel Biomarker of DNA Damage-Induced Senescence and Promotes Spontaneous Senescence. (PMID:37831546)
Cross-species orthologs
26 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | si:dkey-46g23.5 | ENSDARG00000008835 |
| danio_rerio | si:dkey-52d15.3 | ENSDARG00000041645 |
| danio_rerio | si:dkey-105h12.2 | ENSDARG00000041685 |
| danio_rerio | a2ml | ENSDARG00000056314 |
| danio_rerio | zgc:171426 | ENSDARG00000074764 |
| danio_rerio | zgc:165518 | ENSDARG00000075737 |
| danio_rerio | zgc:165453 | ENSDARG00000078183 |
| danio_rerio | si:ch211-212c13.8 | ENSDARG00000078757 |
| danio_rerio | si:ch211-212c13.10 | ENSDARG00000093199 |
| danio_rerio | a2ml2 | ENSDARG00000097105 |
| ENSDARG00000100979 | ||
| danio_rerio | zgc:171445 | ENSDARG00000115205 |
| danio_rerio | si:dkey-46g23.2 | ENSDARG00000115817 |
| danio_rerio | si:dkey-46g23.3 | ENSDARG00000116005 |
| mus_musculus | Mug2 | ENSMUSG00000030131 |
| mus_musculus | Mug1 | ENSMUSG00000059908 |
| mus_musculus | Gm7298 | ENSMUSG00000108022 |
| rattus_norvegicus | Cpamd8 | ENSRNOG00000065350 |
| rattus_norvegicus | Mug1l1 | ENSRNOG00000070375 |
| rattus_norvegicus | ENSRNOG00000075610 | |
| rattus_norvegicus | ENSRNOG00000091232 | |
| drosophila_melanogaster | Tep4 | FBGN0041180 |
| drosophila_melanogaster | Tep3 | FBGN0041181 |
| drosophila_melanogaster | Tep2 | FBGN0041182 |
| drosophila_melanogaster | Tep1 | FBGN0041183 |
| caenorhabditis_elegans | tep-1 | WBGENE00013969 |
Paralogs (8): C5 (ENSG00000106804), C3 (ENSG00000125730), CD109 (ENSG00000156535), CPAMD8 (ENSG00000160111), A2ML1 (ENSG00000166535), A2M (ENSG00000175899), C4B (ENSG00000224389), C4A (ENSG00000244731)
Protein
Protein identifiers
Pregnancy zone protein — P20742 (reviewed: P20742)
Alternative names: C3 and PZP-like alpha-2-macroglobulin domain-containing protein 6
All UniProt accessions (2): P20742, F5GXY0
UniProt curated annotations — full annotation on UniProt →
Function. Is able to inhibit all four classes of proteinases by a unique ’trapping’ mechanism. This protein has a peptide stretch, called the ‘bait region’ which contains specific cleavage sites for different proteinases. When a proteinase cleaves the bait region, a conformational change is induced in the protein which traps the proteinase. The entrapped enzyme remains active against low molecular weight substrates (activity against high molecular weight substrates is greatly reduced). Following cleavage in the bait region a thioester bond is hydrolyzed and mediates the covalent binding of the protein to the proteinase.
Subunit / interactions. Homotetramer, which consists of two pairs of disulfide-linked chains.
Subcellular location. Secreted.
Tissue specificity. Plasma. Prominent constituent of late-pregnancy sera.
Similarity. Belongs to the protease inhibitor I39 (alpha-2-macroglobulin) family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P20742-1 | 1 | yes |
| P20742-2 | 2 |
RefSeq proteins (1): NP_002855* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001599 | Macroglobln_a2 | Domain |
| IPR002890 | MG2 | Domain |
| IPR008930 | Terpenoid_cyclase/PrenylTrfase | Homologous_superfamily |
| IPR009048 | A-macroglobulin_rcpt-bd | Domain |
| IPR010916 | TonB_box_CS | Conserved_site |
| IPR011625 | A2M_N_BRD | Domain |
| IPR011626 | Alpha-macroglobulin_TED | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR014756 | Ig_E-set | Homologous_superfamily |
| IPR019742 | MacrogloblnA2_CS | Conserved_site |
| IPR036595 | A-macroglobulin_rcpt-bd_sf | Homologous_superfamily |
| IPR040839 | MG4 | Domain |
| IPR041555 | MG3 | Domain |
| IPR041813 | A2M_TED | Domain |
| IPR047565 | Alpha-macroglob_thiol-ester_cl | Conserved_site |
| IPR050473 | A2M/Complement_sys | Family |
Pfam: PF00207, PF01835, PF07677, PF07678, PF07703, PF17789, PF17791
UniProt features (26 total): glycosylation site 10, sequence variant 8, splice variant 3, signal peptide 1, chain 1, cross-link 1, region of interest 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P20742-F1 | 81.87 | 0.29 |
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): 978–981
Glycosylation sites (10): 932, 997, 1430, 54, 69, 246, 392, 406, 753, 875
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 63 (showing top):
MODULE_379, BLALOCK_ALZHEIMERS_DISEASE_UP, HSIAO_LIVER_SPECIFIC_GENES, CAIRO_HEPATOBLASTOMA_DN, GOBP_MULTI_MULTICELLULAR_ORGANISM_PROCESS, BROWN_MYELOID_CELL_DEVELOPMENT_UP, MODULE_242, ZHONG_SECRETOME_OF_LUNG_CANCER_AND_ENDOTHELIUM, MODULE_104, GOCC_BLOOD_MICROPARTICLE, GOMF_PEPTIDASE_REGULATOR_ACTIVITY, BOCHKIS_FOXA2_TARGETS, GOMF_PROTEASE_BINDING, GOMF_SERINE_TYPE_ENDOPEPTIDASE_INHIBITOR_ACTIVITY, GOMF_ENZYME_INHIBITOR_ACTIVITY
GO Biological Process (1): female pregnancy (GO:0007565)
GO Molecular Function (4): protease binding (GO:0002020), endopeptidase inhibitor activity (GO:0004866), serine-type endopeptidase inhibitor activity (GO:0004867), peptidase inhibitor activity (GO:0030414)
GO Cellular Component (5): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), extracellular exosome (GO:0070062), blood microparticle (GO:0072562), extracellular matrix (GO:0031012)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| multi-organism reproductive process | 1 |
| multi-multicellular organism process | 1 |
| enzyme binding | 1 |
| endopeptidase activity | 1 |
| peptidase inhibitor activity | 1 |
| endopeptidase regulator activity | 1 |
| serine-type endopeptidase activity | 1 |
| endopeptidase inhibitor activity | 1 |
| enzyme inhibitor activity | 1 |
| peptidase activity | 1 |
| peptidase regulator activity | 1 |
| extracellular vesicle | 1 |
| extracellular region | 1 |
| external encapsulating structure | 1 |
Protein interactions and networks
STRING
874 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PZP | CTRB2 | Q6GPI1 | 822 |
| PZP | CTRB1 | P17538 | 755 |
| PZP | SERPINF2 | P08697 | 585 |
| PZP | BRPF1 | P55201 | 571 |
| PZP | FGG | P02679 | 494 |
| PZP | FGA | P02671 | 466 |
| PZP | FN1 | P02751 | 461 |
| PZP | MEAF6 | Q9HAF1 | 450 |
| PZP | MMP9 | P14780 | 449 |
| PZP | SHBG | P04278 | 446 |
| PZP | PAEP | P09466 | 446 |
| PZP | SERPINF1 | P36955 | 422 |
| PZP | ADH4 | P08319 | 412 |
| PZP | KLK7 | P49862 | 405 |
| PZP | MLLT10 | P55197 | 400 |
IntAct
15 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| DEFA6 | EXTL3 | psi-mi:“MI:0914”(association) | 0.530 |
| PZP | VDAC2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PZP | A2M | psi-mi:“MI:0915”(physical association) | 0.400 |
| TUBGCP4 | PZP | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM248 | PKD2 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | LANCL1 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | NCAN | psi-mi:“MI:0914”(association) | 0.350 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| rep | DDX3X | psi-mi:“MI:0914”(association) | 0.350 |
| ATG16L1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CCL18 | PZP | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (24): PZP (Affinity Capture-MS), PZP (Affinity Capture-MS), PZP (Affinity Capture-MS), PZP (Affinity Capture-MS), PZP (Affinity Capture-MS), PZP (Affinity Capture-MS), VDAC2 (Proximity Label-MS), PZP (Reconstituted Complex), PZP (Affinity Capture-MS), PZP (Affinity Capture-MS), A2M (Affinity Capture-MS), TGFB1 (Reconstituted Complex), TGFB2 (Reconstituted Complex), PZP (Affinity Capture-MS), PZP (Affinity Capture-MS)
ESM2 similar proteins: A0AAQ4VMX2, A6X935, A8K2U0, I2C090, P01023, P01029, P01030, P01031, P06238, P06684, P06756, P08649, P08650, P0C0L4, P0C0L5, P14046, P19069, P19827, P20740, P20742, P24063, P28665, P28666, P43406, P61625, P79263, P80746, P97278, P98093, Q03626, Q06274, Q0VCM5, Q14624, Q29052, Q3T052, Q3UU35, Q5R4N8, Q61702, Q61838, Q63041
Diamond homologs: A8K2U0, P01023, P06238, P14046, P20739, P20740, P20742, P28665, P28666, Q03626, Q3UU35, Q5R4N8, Q61838, Q63041, Q6GQT1, Q6IE52, Q6ZMU1, Q7SIH1, P20738, Q6IE37, C9XI63, P20737, Q6YHK3, Q8IZJ3, Q8R422, Q9GYW4, P23667, Q8YM40, A0AAQ4VMX2, A0RZC6, P01024, P01026, P01029, P01030, P08649, P0C0L4, P0C0L5, P19069, Q0ZZJ6
SIGNOR signaling
4 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MMP9 | “down-regulates quantity by destabilization” | PZP | cleavage |
| MMP2 | “down-regulates quantity by destabilization” | PZP | cleavage |
| PZP | “down-regulates activity” | MMP9 | binding |
| PZP | “down-regulates activity” | MMP2 | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
9 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 3 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4466 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:9150639:CTCA:C | donor_loss | 1.0000 |
| 12:9150640:TCAC:T | donor_loss | 1.0000 |
| 12:9150641:CACC:C | donor_loss | 1.0000 |
| 12:9150642:A:T | donor_loss | 1.0000 |
| 12:9150643:C:CA | donor_loss | 1.0000 |
| 12:9150643:CCTGT:C | donor_gain | 1.0000 |
| 12:9150742:GTCAC:G | acceptor_gain | 1.0000 |
| 12:9150743:TCAC:T | acceptor_gain | 1.0000 |
| 12:9150744:CAC:C | acceptor_gain | 1.0000 |
| 12:9150744:CACC:C | acceptor_gain | 1.0000 |
| 12:9150745:AC:A | acceptor_gain | 1.0000 |
| 12:9150746:CC:C | acceptor_gain | 1.0000 |
| 12:9150746:CCTGA:C | acceptor_loss | 1.0000 |
| 12:9150747:C:CC | acceptor_gain | 1.0000 |
| 12:9150747:CTGA:C | acceptor_loss | 1.0000 |
| 12:9152311:C:CC | acceptor_gain | 1.0000 |
| 12:9152818:TCTTA:T | donor_loss | 1.0000 |
| 12:9152819:CTTA:C | donor_loss | 1.0000 |
| 12:9152820:TTAC:T | donor_loss | 1.0000 |
| 12:9152821:TACCT:T | donor_loss | 1.0000 |
| 12:9152822:A:AC | donor_gain | 1.0000 |
| 12:9152823:C:A | donor_loss | 1.0000 |
| 12:9152823:C:CC | donor_gain | 1.0000 |
| 12:9152947:GATGT:G | acceptor_gain | 1.0000 |
| 12:9152948:ATGT:A | acceptor_gain | 1.0000 |
| 12:9152949:TGT:T | acceptor_gain | 1.0000 |
| 12:9152952:C:A | acceptor_loss | 1.0000 |
| 12:9152952:C:CC | acceptor_gain | 1.0000 |
| 12:9152954:G:C | acceptor_gain | 1.0000 |
| 12:9157765:A:AC | donor_gain | 1.0000 |
AlphaMissense
9663 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:9154628:G:C | F1254L | 0.995 |
| 12:9154628:G:T | F1254L | 0.995 |
| 12:9154630:A:G | F1254L | 0.995 |
| 12:9165315:A:G | W771R | 0.992 |
| 12:9165315:A:T | W771R | 0.992 |
| 12:9153343:C:G | D1259H | 0.989 |
| 12:9159973:A:C | F1034L | 0.989 |
| 12:9159973:A:T | F1034L | 0.989 |
| 12:9159975:A:G | F1034L | 0.989 |
| 12:9160417:G:C | N982K | 0.989 |
| 12:9160417:G:T | N982K | 0.989 |
| 12:9165313:C:A | W771C | 0.989 |
| 12:9165313:C:G | W771C | 0.989 |
| 12:9153330:G:T | A1263D | 0.986 |
| 12:9159979:G:C | S1032R | 0.986 |
| 12:9159979:G:T | S1032R | 0.986 |
| 12:9159981:T:G | S1032R | 0.986 |
| 12:9160010:A:G | L1022P | 0.986 |
| 12:9160420:C:A | Q981H | 0.986 |
| 12:9160420:C:G | Q981H | 0.986 |
| 12:9166077:A:G | W745R | 0.986 |
| 12:9166077:A:T | W745R | 0.986 |
| 12:9200909:A:G | F218S | 0.985 |
| 12:9160424:T:A | E980V | 0.984 |
| 12:9153322:C:G | A1266P | 0.983 |
| 12:9158542:C:G | A1058P | 0.983 |
| 12:9158574:A:G | L1047P | 0.983 |
| 12:9166069:C:A | W747C | 0.983 |
| 12:9166069:C:G | W747C | 0.983 |
| 12:9153327:A:G | L1264P | 0.982 |
dbSNP variants (sampled 300 via entrez): RS1000045190 (12:9173936 C>A), RS1000129083 (12:9176739 T>A), RS1000187059 (12:9167587 G>A), RS1000319959 (12:9167336 C>G), RS1000489480 (12:9160970 C>T), RS1000511005 (12:9180324 A>C), RS1000570468 (12:9142575 T>C), RS1000589153 (12:9154393 G>A,C), RS1000602593 (12:9199696 A>G), RS1000633611 (12:9199361 A>G), RS1000763302 (12:9194654 C>T), RS1000802251 (12:9173635 G>T), RS1000849216 (12:9206017 C>T), RS1000860424 (12:9179028 G>A,C), RS1000994902 (12:9172896 C>T)
Disease associations
OMIM: gene MIM:176420 | 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 |
|---|---|---|
| GCST000767_1 | Non-alcoholic fatty liver disease histology (AST) | 1.000000e-06 |
| GCST001762_79 | Obesity-related traits | 9.000000e-06 |
| GCST003997_15 | Myopia | 4.000000e-12 |
| GCST006291_40 | Spherical equivalent or myopia (age of diagnosis) | 4.000000e-12 |
| GCST006427_26 | Depression in smokers | 7.000000e-07 |
| GCST010002_207 | Refractive error | 1.000000e-40 |
| GCST010204_125 | Low density lipoprotein cholesterol levels | 5.000000e-12 |
| GCST010396_120 | Gut microbiota (bacterial taxa, hurdle binary method) | 7.000000e-07 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005189 | respiratory quotient |
| EFO:0004847 | age at onset |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0007874 | gut microbiome measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | increases expression, increases methylation | 2 |
| bisphenol A | decreases methylation | 1 |
| sodium arsenite | decreases expression | 1 |
| chromium hexavalent ion | increases expression | 1 |
| licochalcone B | decreases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Cadmium | affects binding | 1 |
| Carmustine | decreases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Estradiol | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Lead | affects binding | 1 |
| Nickel | affects binding | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Phenobarbital | affects expression | 1 |
| Phthalic Acids | increases methylation | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | decreases expression | 1 |
| Zinc | affects binding | 1 |
| 8-Bromo Cyclic Adenosine Monophosphate | increases expression | 1 |
| Aflatoxin B1 | decreases expression, decreases methylation | 1 |
| Palmitic Acid | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Genistein | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cirrhosis of liver, metabolic dysfunction-associated steatotic liver disease