PSG9
gene geneOn this page
Also known as PSGII
Summary
PSG9 (pregnancy specific beta-1-glycoprotein 9, HGNC:9526) is a protein-coding gene on chromosome 19q13.31, encoding Pregnancy-specific beta-1-glycoprotein 9 (Q00887). Binds to the small latent transforming growth factor-beta complex, consisting of the N-terminal TGFB1 latency-associated peptide (LAP) and the mature form of TGFB1, thereby leading to the activation of TGFB1.
The protein encoded by this gene is a member of the pregnancy-specific glycoprotein (PSG) family. This protein family and the closely related carcinoembryonic antigen cell adhesion molecule (CEACAM) gene family are both members of the immunoglobulin superfamily, and are organized as a large gene cluster. This protein is thought to inhibit platelet-fibrinogen interactions. Several studies suggest that reduced serum concentrations of PSGs are associated with fetal growth restrictions, while up-regulation of this gene has been observed in colorectal cancers. Several pseudogenes of this gene are found on chromosome 19. Alternative splicing results in multiple transcript variants that encode multiple protein isoforms.
Source: NCBI Gene 5678 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 243 total
- MANE Select transcript:
NM_002784
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9526 |
| Approved symbol | PSG9 |
| Name | pregnancy specific beta-1-glycoprotein 9 |
| Location | 19q13.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PSGII |
| Ensembl gene | ENSG00000183668 |
| Ensembl biotype | protein_coding |
| OMIM | 176398 |
| Entrez | 5678 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 8 protein_coding, 1 retained_intron
ENST00000244293, ENST00000270077, ENST00000291752, ENST00000418820, ENST00000443718, ENST00000593948, ENST00000595404, ENST00000596730, ENST00000621109
RefSeq mRNA: 5 — MANE Select: NM_002784
NM_001301707, NM_001301708, NM_001301709, NM_001411075, NM_002784
CCDS: CCDS12618, CCDS77311, CCDS77312, CCDS77314, CCDS92636
Canonical transcript exons
ENST00000270077 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001850662 | 43253282 | 43253646 |
| ENSE00002292875 | 43267784 | 43268149 |
| ENSE00002316640 | 43269368 | 43269530 |
| ENSE00002436671 | 43258857 | 43259135 |
| ENSE00002503378 | 43261860 | 43262138 |
| ENSE00003657761 | 43258202 | 43258456 |
Expression profiles
Bgee: expression breadth broad, 63 present calls, max score 94.61.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.2896 / max 2083.8337, expressed in 67 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 181250 | 2.2755 | 66 |
| 181249 | 0.0098 | 3 |
| 208849 | 0.0044 | 1 |
Top tissues by expression
243 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| placenta | UBERON:0001987 | 94.61 | gold quality |
| decidua | UBERON:0002450 | 85.94 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 73.82 | gold quality |
| ileal mucosa | UBERON:0000331 | 72.85 | gold quality |
| diaphragm | UBERON:0001103 | 71.46 | gold quality |
| pancreatic ductal cell | CL:0002079 | 67.78 | silver quality |
| olfactory bulb | UBERON:0002264 | 67.37 | gold quality |
| type B pancreatic cell | CL:0000169 | 67.07 | gold quality |
| hair follicle | UBERON:0002073 | 62.91 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 62.56 | gold quality |
| deltoid | UBERON:0001476 | 61.71 | silver quality |
| stromal cell of endometrium | CL:0002255 | 61.37 | gold quality |
| heart right ventricle | UBERON:0002080 | 60.24 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 59.87 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 59.78 | gold quality |
| rectum | UBERON:0001052 | 58.44 | gold quality |
| gluteal muscle | UBERON:0002000 | 58.15 | gold quality |
| triceps brachii | UBERON:0001509 | 57.95 | gold quality |
| islet of Langerhans | UBERON:0000006 | 57.72 | gold quality |
| quadriceps femoris | UBERON:0001377 | 57.57 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 57.36 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 56.95 | gold quality |
| vastus lateralis | UBERON:0001379 | 56.58 | gold quality |
| adrenal tissue | UBERON:0018303 | 56.56 | gold quality |
| cranial nerve II | UBERON:0000941 | 55.74 | silver quality |
| colonic mucosa | UBERON:0000317 | 55.23 | silver quality |
| thymus | UBERON:0002370 | 55.16 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 55.15 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 54.42 | gold quality |
| upper leg skin | UBERON:0004262 | 54.23 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.26 |
| E-MTAB-6142 | no | 49.94 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| FOXP3 | Activation |
miRNA regulators (miRDB)
21 targeting PSG9, 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-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-6844 | 99.82 | 70.69 | 2423 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-556-3P | 99.74 | 68.75 | 1203 |
| HSA-MIR-7154-5P | 99.69 | 70.52 | 1900 |
| HSA-MIR-516B-5P | 99.56 | 66.33 | 1495 |
| HSA-MIR-6733-3P | 99.54 | 67.80 | 1281 |
| HSA-MIR-543 | 99.52 | 69.03 | 2595 |
| HSA-MIR-323B-3P | 99.14 | 68.89 | 725 |
| HSA-MIR-501-5P | 98.77 | 68.88 | 1328 |
| HSA-MIR-8060 | 98.61 | 66.93 | 1187 |
| HSA-MIR-9903 | 98.47 | 66.70 | 748 |
Literature-anchored findings (GeneRIF, showing 6)
- PSG9 may have a role in development of colorectal carcinogenesis in patients with adenomatous polyposis coli (PMID:15982419)
- PSG9, through its activation of TGFbeta-1, could be a potent inducer of immune tolerance (PMID:27389696)
- Findings illustrate the innovative mechanism by which PSG9 drives the progression of colorectal cancer and tumor angiogenesis. This occurs via nuclear translocation of PSG9/SMAD4, which activates angiogenic cytokines. (PMID:27528036)
- Results indicate that pregnancy-specific glycoprotein 9 (PSG9) may facilitate the development of hepatocellular carcinoma (HCC) by fostering angiogenesis via promoting VEGFA production in cancer HCC. (PMID:28078509)
- Plasma OPN + MMP7 + PSG9 elevation in combination was a prognostic factor for overall survival in hepatocellular carcinoma (PMID:29770948)
- PSG7 and 9 (Pregnancy-Specific beta-1 Glycoproteins 7 and 9): Novel Biomarkers for Preeclampsia. (PMID:35322669)
Cross-species orthologs
0 orthologs
Paralogs (24): CEACAM21 (ENSG00000007129), CEACAM7 (ENSG00000007306), CEACAM1 (ENSG00000079385), CEACAM6 (ENSG00000086548), CEACAM4 (ENSG00000105352), CEACAM5 (ENSG00000105388), PSG8 (ENSG00000124467), CEACAM8 (ENSG00000124469), HEPACAM (ENSG00000165478), PSG6 (ENSG00000170848), CEACAM3 (ENSG00000170956), CEACAM19 (ENSG00000186567), HEPACAM2 (ENSG00000188175), PSG5 (ENSG00000204941), CEACAM18 (ENSG00000213822), CEACAM16 (ENSG00000213892), VSTM5 (ENSG00000214376), PSG3 (ENSG00000221826), PSG7 (ENSG00000221878), PSG1 (ENSG00000231924), PSG2 (ENSG00000242221), PSG11 (ENSG00000243130), PSG4 (ENSG00000243137), CEACAM20 (ENSG00000273777)
Protein
Protein identifiers
Pregnancy-specific beta-1-glycoprotein 9 — Q00887 (reviewed: Q00887)
Alternative names: PS34, Pregnancy-specific beta-1 glycoprotein B, Pregnancy-specific beta-1-glycoprotein 11, Pregnancy-specific glycoprotein 7
All UniProt accessions (7): A0A087WYK1, E7EW65, G3XAA7, H7C1I4, M0R0E4, M0R0U8, Q00887
UniProt curated annotations — full annotation on UniProt →
Function. Binds to the small latent transforming growth factor-beta complex, consisting of the N-terminal TGFB1 latency-associated peptide (LAP) and the mature form of TGFB1, thereby leading to the activation of TGFB1. The activation of TGFB1 leads to stimulation of naive CD4(+) T-cells to increase FoxP3 expression and to an increase in the number of FoxP3(+) regulatory T-cells. Induces the differentiation of a suppressive CD4(+)LAP(+)FoxP3(-) T-cell subset. Induces the secretion of TGFB1 in macrophages, but not in activated CD4(+) T-cells. May reduce the expression of several pro-inflammatory cytokines and chemokines by CD4(+) T-cells, including IL2 and IL6.
Subunit / interactions. Interacts with latency-associated peptide; leading to TGFB1 activation.
Subcellular location. Secreted.
Similarity. Belongs to the immunoglobulin superfamily. CEA family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q00887-1 | 1 | yes |
| Q00887-2 | 2 |
RefSeq proteins (5): NP_001288636, NP_001288637, NP_001288638, NP_001398004, NP_002775* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003598 | Ig_sub2 | Domain |
| IPR003599 | Ig_sub | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR013106 | Ig_V-set | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR050831 | CEA_cell_adhesion | Family |
Pfam: PF07686, PF13895
UniProt features (29 total): glycosylation site 6, sequence conflict 6, sequence variant 5, domain 4, disulfide bond 3, splice variant 2, signal peptide 1, chain 1, short sequence motif 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q00887-F1 | 87.44 | 0.72 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (3): 169–217, 262–310, 354–394
Glycosylation sites (6): 268, 303, 387, 104, 111, 199
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-202733 | Cell surface interactions at the vascular wall |
MSigDB gene sets: 137 (showing top):
GOBP_SMAD_PROTEIN_SIGNAL_TRANSDUCTION, GOBP_REGULATION_OF_CELL_ACTIVATION, LI_CISPLATIN_RESISTANCE_DN, KOBAYASHI_EGFR_SIGNALING_24HR_UP, GOBP_HETEROPHILIC_CELL_CELL_ADHESION, GOBP_TOLERANCE_INDUCTION, GOBP_INFLAMMATORY_RESPONSE, GOZGIT_ESR1_TARGETS_DN, GOBP_CELL_CELL_ADHESION, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION, MISSIAGLIA_REGULATED_BY_METHYLATION_UP, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_REGULATION_OF_HEMOPOIESIS, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS
GO Biological Process (7): tolerance induction dependent upon immune response (GO:0002461), Fc receptor mediated inhibitory signaling pathway (GO:0002774), transforming growth factor beta receptor signaling pathway (GO:0007179), female pregnancy (GO:0007565), regulation of regulatory T cell differentiation (GO:0045589), positive regulation of SMAD protein signal transduction (GO:0060391), negative regulation of cytokine production involved in inflammatory response (GO:1900016)
GO Molecular Function (1): protein-containing complex binding (GO:0044877)
GO Cellular Component (2): extracellular region (GO:0005576), transforming growth factor beta ligand-receptor complex (GO:0070021)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Hemostasis | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains | 1 |
| tolerance induction | 1 |
| immune response-inhibiting cell surface receptor signaling pathway | 1 |
| cellular response to transforming growth factor beta stimulus | 1 |
| transforming growth factor beta receptor superfamily signaling pathway | 1 |
| multi-organism reproductive process | 1 |
| multi-multicellular organism process | 1 |
| regulatory T cell differentiation | 1 |
| regulation of T cell differentiation | 1 |
| regulation of SMAD protein signal transduction | 1 |
| SMAD protein signal transduction | 1 |
| positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 1 |
| positive regulation of intracellular signal transduction | 1 |
| negative regulation of cytokine production | 1 |
| cytokine production involved in inflammatory response | 1 |
| regulation of cytokine production involved in inflammatory response | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
| plasma membrane signaling receptor complex | 1 |
| serine/threonine protein kinase complex | 1 |
Protein interactions and networks
STRING
1052 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PSG9 | CSH1 | P01243 | 767 |
| PSG9 | CSH1 | P01243 | 763 |
| PSG9 | PAPPA | Q13219 | 621 |
| PSG9 | ALPP | P05187 | 469 |
| PSG9 | AFP | P02771 | 447 |
| PSG9 | SMAD2 | Q15796 | 442 |
| PSG9 | BAIAP3 | O94812 | 411 |
| PSG9 | LGALS1 | P09382 | 395 |
| PSG9 | PSG2 | P11465 | 390 |
| PSG9 | PSG8 | Q9UQ74 | 386 |
| PSG9 | PSG1 | P11462 | 383 |
| PSG9 | PSG3 | Q16557 | 383 |
| PSG9 | A0A096LNM5 | A0A096LNM5 | 382 |
| PSG9 | C19orf53 | Q9UNZ5 | 370 |
| PSG9 | TFPI2 | P48307 | 358 |
IntAct
23 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DSCAM | PSG9 | psi-mi:“MI:0915”(physical association) | 0.540 |
| PSG9 | DSCAM | psi-mi:“MI:0407”(direct interaction) | 0.540 |
| PSG9 | CCDC85C | psi-mi:“MI:0914”(association) | 0.530 |
| TGFB1 | PSG9 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PSG9 | HSPD1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| DCC | PSG9 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FGFR4 | PSG9 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PSG9 | LEP | psi-mi:“MI:0915”(physical association) | 0.400 |
| PSG9 | AXL | psi-mi:“MI:0915”(physical association) | 0.400 |
| PSG9 | ARMS2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PSG9 | SMAD2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PSG9 | PTPN12 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SMAD4 | PSG9 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PSG3 | PSG1 | psi-mi:“MI:0914”(association) | 0.350 |
| SMAD9 | VSIG8 | psi-mi:“MI:0914”(association) | 0.350 |
| PSG9 | EEF1A1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| PSG9 | RIF1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (44): PSG9 (Affinity Capture-MS), PSG9 (Affinity Capture-MS), ATP6V1E1 (Affinity Capture-MS), SECISBP2L (Affinity Capture-MS), COLGALT2 (Affinity Capture-MS), NEFL (Affinity Capture-MS), NEFM (Affinity Capture-MS), SHCBP1 (Affinity Capture-MS), APOL2 (Affinity Capture-MS), CCDC85C (Affinity Capture-MS), ZMYM1 (Affinity Capture-MS), ZBTB44 (Affinity Capture-MS), CELSR3 (Affinity Capture-MS), PSG9 (Affinity Capture-MS), SHCBP1 (Affinity Capture-MS)
ESM2 similar proteins: A0A0K2S4Q6, A6NI73, O75019, O75022, O75023, O76036, P0C191, P11464, P11465, P13688, P31997, P40199, P59901, Q00887, Q00888, Q00889, Q08708, Q0V881, Q15238, Q16557, Q28110, Q496F6, Q5M7U7, Q5SQ64, Q6GTX8, Q6ISS4, Q6MG56, Q6PI73, Q863H2, Q863H3, Q8C567, Q8IYS5, Q8MHY9, Q8MJZ2, Q8N149, Q8N423, Q8N6C8, Q8VBT3, Q95JB9, Q96LA5
Diamond homologs: A0A0B4J1L0, D3ZQE1, E9QA28, O75871, P06731, P11464, P11465, P13688, P16573, P31809, P31997, P40198, P40199, Q00887, Q00888, Q00889, Q13046, Q14002, Q15238, Q16557, Q2WEN9, Q3KPI0, Q3UKK2, Q61400, Q63111, Q810J1, Q925P2, Q9D2Z1, Q9UQ72, Q9UQ74, A0A140LHF2, P0DP72, P35329, Q15223, Q15746, Q58EX2, Q6V4S5, Q96FE5, Q9D1T0, Q9GL76
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
243 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 213 |
| Likely benign | 18 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
684 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:43258334:T:TA | donor_gain | 1.0000 |
| 19:43258335:C:A | donor_gain | 1.0000 |
| 19:43269362:CCTCA:C | donor_loss | 1.0000 |
| 19:43269363:CTCAC:C | donor_loss | 1.0000 |
| 19:43269364:TCA:T | donor_loss | 1.0000 |
| 19:43269365:CAC:C | donor_loss | 1.0000 |
| 19:43258453:CCAT:C | acceptor_gain | 0.9900 |
| 19:43258454:CATC:C | acceptor_gain | 0.9900 |
| 19:43261858:A:AC | donor_gain | 0.9900 |
| 19:43261859:C:CC | donor_gain | 0.9900 |
| 19:43262139:C:CC | acceptor_gain | 0.9900 |
| 19:43267782:A:AC | donor_gain | 0.9900 |
| 19:43267783:C:CC | donor_gain | 0.9900 |
| 19:43268150:C:CC | acceptor_gain | 0.9900 |
| 19:43258317:T:TA | donor_gain | 0.9800 |
| 19:43259134:CGCTG:C | acceptor_gain | 0.9800 |
| 19:43259136:C:CC | acceptor_gain | 0.9800 |
| 19:43259138:G:C | acceptor_gain | 0.9800 |
| 19:43267777:CACT:C | donor_loss | 0.9800 |
| 19:43267778:ACTC:A | donor_loss | 0.9800 |
| 19:43267780:TCACA:T | donor_loss | 0.9800 |
| 19:43267781:CA:C | donor_loss | 0.9800 |
| 19:43267782:ACAGT:A | donor_loss | 0.9800 |
| 19:43267783:C:T | donor_loss | 0.9800 |
| 19:43267783:CA:C | donor_gain | 0.9800 |
| 19:43268145:TGATG:T | acceptor_gain | 0.9800 |
| 19:43268146:GATG:G | acceptor_gain | 0.9800 |
| 19:43268148:TG:T | acceptor_gain | 0.9800 |
| 19:43269366:A:AC | donor_gain | 0.9800 |
| 19:43269367:C:CC | donor_gain | 0.9800 |
AlphaMissense
2764 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:43258347:C:A | W366C | 0.975 |
| 19:43258347:C:G | W366C | 0.975 |
| 19:43258916:C:G | C310S | 0.975 |
| 19:43258917:A:T | C310S | 0.975 |
| 19:43261885:A:C | S228R | 0.970 |
| 19:43261885:A:T | S228R | 0.970 |
| 19:43261887:T:G | S228R | 0.970 |
| 19:43267894:A:G | L107P | 0.968 |
| 19:43262029:C:A | W180C | 0.963 |
| 19:43262029:C:G | W180C | 0.963 |
| 19:43268015:A:G | W67R | 0.963 |
| 19:43268015:A:T | W67R | 0.963 |
| 19:43267898:A:G | S106P | 0.957 |
| 19:43268013:C:A | W67C | 0.957 |
| 19:43268013:C:G | W67C | 0.957 |
| 19:43261919:C:G | C217S | 0.956 |
| 19:43261920:A:T | C217S | 0.956 |
| 19:43262031:A:G | W180R | 0.956 |
| 19:43262031:A:T | W180R | 0.956 |
| 19:43258349:A:G | W366R | 0.955 |
| 19:43258349:A:T | W366R | 0.955 |
| 19:43262063:C:G | C169S | 0.953 |
| 19:43262064:A:T | C169S | 0.953 |
| 19:43262064:A:G | C169R | 0.950 |
| 19:43262063:C:T | C169Y | 0.949 |
| 19:43258264:C:G | C394S | 0.948 |
| 19:43258265:A:T | C394S | 0.948 |
| 19:43258271:A:C | Y392D | 0.947 |
| 19:43258917:A:G | C310R | 0.945 |
| 19:43258385:A:G | C354R | 0.944 |
dbSNP variants (sampled 300 via entrez): RS1000192734 (19:43262230 C>A,T), RS1000257509 (19:43266967 A>C), RS1000332382 (19:43267192 A>T), RS1000454716 (19:43254765 AAG>A), RS1000594992 (19:43266322 A>G), RS1000609786 (19:43270114 C>T), RS1000798076 (19:43262975 G>A), RS1001017095 (19:43269499 G>A,C), RS1001180695 (19:43260848 C>A), RS1001321507 (19:43255504 A>G), RS1001331384 (19:43255778 T>A), RS1001603392 (19:43263853 G>A), RS1001625996 (19:43267487 C>G), RS1001676970 (19:43264072 G>A,C,T), RS1002194623 (19:43260696 C>G)
Disease associations
OMIM: gene MIM:176398 | 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_2665 | Blood protein levels | 1.000000e-07 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Aflatoxin B1 | decreases methylation, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| sotorasib | affects cotreatment, decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| potassium chromate(VI) | increases expression | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| fipronil | affects cotreatment, increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression | 1 |
| abrine | increases expression | 1 |
| trametinib | affects cotreatment, decreases expression | 1 |
| NVP-BKM120 | affects cotreatment, decreases expression | 1 |
| 2,3,5-trichloro-6-phenyl-(1,4)benzoquinone | decreases expression | 1 |
| Irinotecan | affects cotreatment, increases response to substance | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Leucovorin | affects cotreatment, increases response to substance | 1 |
| Copper | affects binding, increases expression | 1 |
| DEET | affects cotreatment, increases expression | 1 |
| Disulfiram | affects binding, increases expression | 1 |
| Fluorouracil | affects cotreatment, increases response to substance | 1 |
| Lucanthone | increases expression | 1 |
| Methylcholanthrene | affects binding, increases reaction | 1 |
| Silicon Dioxide | increases expression | 1 |
| Valproic Acid | decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| beta-Naphthoflavone | decreases expression | 1 |
| S-Nitrosoglutathione | increases 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.