OST4
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Summary
OST4 (oligosaccharyltransferase complex subunit 4, non-catalytic, HGNC:32483) is a protein-coding gene on chromosome 2p23.3, encoding Dolichyl-diphosphooligosaccharide–protein glycosyltransferase subunit 4 (P0C6T2). Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypep…. It is a selective cancer dependency (DepMap: 29.4% of cell lines).
Involved in protein N-linked glycosylation via asparagine. Part of oligosaccharyltransferase complex A and oligosaccharyltransferase complex B.
Source: NCBI Gene 100128731 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 3 total
- Cancer dependency (DepMap): dependent in 29.4% of screened cell lines
- MANE Select transcript:
NM_001134693
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:32483 |
| Approved symbol | OST4 |
| Name | oligosaccharyltransferase complex subunit 4, non-catalytic |
| Location | 2p23.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000228474 |
| Ensembl biotype | protein_coding |
| OMIM | 618932 |
| Entrez | 100128731 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 9 protein_coding
ENST00000429985, ENST00000447619, ENST00000456793, ENST00000889858, ENST00000889859, ENST00000889860, ENST00000929679, ENST00000929680, ENST00000929681
RefSeq mRNA: 1 — MANE Select: NM_001134693
NM_001134693
CCDS: CCDS58703
Canonical transcript exons
ENST00000456793 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001661721 | 27071601 | 27071654 |
| ENSE00001730742 | 27071326 | 27071463 |
| ENSE00001792541 | 27070472 | 27070721 |
Expression profiles
Bgee: expression breadth ubiquitous, 253 present calls, max score 99.74.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 669.7161 / max 4300.2705, expressed in 1828 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 27439 | 669.7161 | 1828 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| monocyte | CL:0000576 | 99.74 | gold quality |
| leukocyte | CL:0000738 | 99.72 | gold quality |
| granulocyte | CL:0000094 | 99.49 | gold quality |
| upper arm skin | UBERON:0004263 | 99.46 | gold quality |
| right adrenal gland | UBERON:0001233 | 99.43 | gold quality |
| right coronary artery | UBERON:0001625 | 99.43 | gold quality |
| left coronary artery | UBERON:0001626 | 99.43 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 99.40 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 99.40 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 99.39 | gold quality |
| left adrenal gland | UBERON:0001234 | 99.39 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 99.39 | gold quality |
| gall bladder | UBERON:0002110 | 99.37 | gold quality |
| coronary artery | UBERON:0001621 | 99.36 | gold quality |
| right atrium auricular region | UBERON:0006631 | 99.36 | gold quality |
| stromal cell of endometrium | CL:0002255 | 99.35 | gold quality |
| endocervix | UBERON:0000458 | 99.35 | gold quality |
| ascending aorta | UBERON:0001496 | 99.34 | gold quality |
| thoracic aorta | UBERON:0001515 | 99.34 | gold quality |
| cardiac atrium | UBERON:0002081 | 99.34 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 99.34 | gold quality |
| bone marrow cell | CL:0002092 | 99.33 | gold quality |
| left ovary | UBERON:0002119 | 99.33 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 99.32 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 99.31 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 99.30 | gold quality |
| aorta | UBERON:0000947 | 99.29 | gold quality |
| adrenal cortex | UBERON:0001235 | 99.29 | gold quality |
| right ovary | UBERON:0002118 | 99.29 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 99.29 | gold quality |
Single-cell (SCXA)
Detected in 20 experiment(s), a significant marker in 12.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-149689 | yes | 8525.57 |
| E-MTAB-10432 | yes | 6786.99 |
| E-HCAD-4 | yes | 73.40 |
| E-HCAD-5 | yes | 31.63 |
| E-MTAB-9221 | yes | 25.64 |
| E-CURD-122 | yes | 22.63 |
| E-MTAB-8410 | yes | 22.38 |
| E-MTAB-6701 | yes | 18.52 |
| E-HCAD-10 | yes | 16.80 |
| E-MTAB-8142 | yes | 13.12 |
| E-HCAD-1 | yes | 8.78 |
| E-GEOD-124858 | no | 1113.47 |
| E-MTAB-10596 | no | 1008.76 |
| E-MTAB-4850 | no | 638.22 |
| E-MTAB-7051 | no | 598.76 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
42 targeting OST4, 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-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-3913-5P | 99.78 | 67.26 | 968 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-12124 | 99.68 | 69.17 | 2700 |
| HSA-MIR-567 | 99.63 | 68.57 | 1219 |
| HSA-MIR-3616-5P | 99.55 | 67.02 | 989 |
| HSA-MIR-573 | 99.55 | 67.44 | 955 |
| HSA-MIR-3122 | 99.50 | 66.33 | 821 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-3915 | 99.45 | 68.49 | 1905 |
| HSA-MIR-6513-5P | 99.43 | 67.81 | 1071 |
| HSA-MIR-297 | 99.40 | 69.58 | 1418 |
| HSA-MIR-7109-5P | 99.18 | 66.13 | 1057 |
| HSA-MIR-3196 | 98.96 | 63.91 | 326 |
| HSA-MIR-3154 | 98.94 | 66.55 | 1455 |
| HSA-MIR-887-5P | 98.82 | 65.90 | 1347 |
| HSA-MIR-3149 | 98.77 | 67.13 | 1639 |
| HSA-MIR-6887-5P | 98.56 | 68.49 | 1295 |
| HSA-MIR-5187-5P | 98.54 | 67.94 | 952 |
| HSA-MIR-6795-5P | 98.52 | 68.51 | 1277 |
| HSA-MIR-3180 | 98.46 | 64.68 | 348 |
| HSA-MIR-3180-3P | 98.46 | 64.68 | 348 |
| HSA-MIR-6816-5P | 98.46 | 64.35 | 364 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 29.4% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 1)
- This study determined the solution structure of human Ost4 in solvent system using NMR spectroscopy. (PMID:21609714)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ost4 | ENSDARG00000096118 |
| mus_musculus | Ost4 | ENSMUSG00000038803 |
| rattus_norvegicus | Ost4 | ENSRNOG00000074074 |
Protein
Protein identifiers
Dolichyl-diphosphooligosaccharide–protein glycosyltransferase subunit 4 — P0C6T2 (reviewed: P0C6T2)
All UniProt accessions (1): P0C6T2
UniProt curated annotations — full annotation on UniProt →
Function. Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity. Specifically involved in maintaining stability of STT3A-containing OST complexes.
Subunit / interactions. Component of the oligosaccharyltransferase (OST) complex. OST exists in two different complex forms which contain common core subunits RPN1, RPN2, OST48, OST4, DAD1 and TMEM258, either STT3A or STT3B as catalytic subunits, and form-specific accessory subunits. STT3A complex assembly occurs through the formation of 3 subcomplexes. Subcomplex 1 contains RPN1 and TMEM258, subcomplex 2 contains the STT3A-specific subunits STT3A, DC2/OSTC, and KCP2 as well as the core subunit OST4, and subcomplex 3 contains RPN2, DAD1, and OST48. The STT3A complex can form stable complexes with the Sec61 complex or with both the Sec61 and TRAP complexes.
Subcellular location. Endoplasmic reticulum. Endoplasmic reticulum membrane.
Pathway. Protein modification; protein glycosylation.
Similarity. Belongs to the OST4 family.
RefSeq proteins (1): NP_001128165* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR018943 | Oligosaccaryltransferase | Family |
| IPR036330 | Ost4p_sf | Homologous_superfamily |
| IPR051307 | OST4 | Family |
Pfam: PF10215
Enzyme classification (BRENDA):
- EC 2.4.99.18 — dolichyl-diphosphooligosaccharide-protein glycotransferase (BRENDA: 84 organisms, 135 substrates, 28 inhibitors, 38 Km, 0 kcat entries)
Substrate kinetics (BRENDA)
29 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| TYR-ASN-LEU-THR-SER-VAL | 0.05–0.6 | 3 |
| ACETYL-ASN-ALA-THR | 0.08–0.143 | 2 |
| ALA-LEU-GLN-ASN-ALA-THR-ARG | 0.3–0.358 | 2 |
| ASN-ALA-THR | 0.56–2.09 | 2 |
| DIPHENYL-ALA-LEU-GLU-ASN-ALA-THR-ARG-NH2 | 0.072–0.23 | 2 |
| TYR-GLN-SER-ASN-SER-THR-MET | 0.08–0.127 | 2 |
| AC-ASN-ALA-THR-NH2 | 2 | 1 |
| AC-ASN-LEU-THR-NH2 | 1 | 1 |
| ACETYL-ASN-LYS-THR | 0.278 | 1 |
| ACETYL-DFNAT-(4-NITROPHENYLALANINE)-NH2 | 0.0009 | 1 |
| ACETYL-DFNVT-(4-NITROPHENYLALANINE)-NH2 | 0.0012 | 1 |
| ACETYL-DQNAT-(4-NITROPHENYLALANINE)-NH2 | 0.0008 | 1 |
| ACETYL-DVNAS-(4-NITROPHENYLALANINE)-NH2 | 0.003 | 1 |
| ACETYL-DVNAT-(4-NITROPHENYLALANINE)-NH2 | 0.0011 | 1 |
| ACETYL-DVNVT-(4-NITROPHENYLALANINE)-NH2 | 0.0014 | 1 |
UniProt features (6 total): topological domain 2, chain 1, transmembrane region 1, mutagenesis site 1, helix 1
Structure
Experimental structures (PDB)
7 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9N9J | ELECTRON MICROSCOPY | 3.2 |
| 6S7O | ELECTRON MICROSCOPY | 3.5 |
| 6S7T | ELECTRON MICROSCOPY | 3.5 |
| 8PN9 | ELECTRON MICROSCOPY | 3.61 |
| 9YGY | ELECTRON MICROSCOPY | 4.1 |
| 8B6L | ELECTRON MICROSCOPY | 7.6 |
| 2LAT | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P0C6T2-F1 | 89.55 | 0.74 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 23 | decreases interaction with stt3a, stt3b and rpn1. |
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-446203 | Asparagine N-linked glycosylation |
| R-HSA-9694548 | Maturation of spike protein |
| R-HSA-9768727 | Regulation of CDH1 posttranslational processing and trafficking to plasma membrane |
| R-HSA-9918432 | Maturation of DENV proteins |
| R-HSA-9931295 | PD-L1(CD274) glycosylation and translocation to plasma membrane |
MSigDB gene sets: 124 (showing top):
REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_PROTEIN_N_LINKED_GLYCOSYLATION, JOHANSSON_GLIOMAGENESIS_BY_PDGFB_UP, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, REACTOME_ADHERENS_JUNCTIONS_INTERACTIONS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_GLYCOPROTEIN_METABOLIC_PROCESS, OSMAN_BLADDER_CANCER_DN, GOCC_TRANSFERASE_COMPLEX, REACTOME_REGULATION_OF_T_CELL_ACTIVATION_BY_CD28_FAMILY, GOCC_MEMBRANE_PROTEIN_COMPLEX, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, GOCC_ORGANELLE_SUBCOMPARTMENT, REACTOME_CO_INHIBITION_BY_PD_1, REACTOME_CELL_JUNCTION_ORGANIZATION
GO Biological Process (3): protein N-linked glycosylation (GO:0006487), obsolete protein N-linked glycosylation via asparagine (GO:0018279), obsolete protein glycosylation (GO:0006486)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (6): endoplasmic reticulum membrane (GO:0005789), oligosaccharyltransferase complex (GO:0008250), oligosaccharyltransferase complex A (GO:0160226), oligosaccharyltransferase complex B (GO:0160227), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| Post-translational protein modification | 1 |
| Translation of Structural Proteins | 1 |
| Regulation of CDH1 Expression and Function | 1 |
| Dengue Virus Genome Translation and Replication | 1 |
| Regulation of PD-L1(CD274) Post-translational modification | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| oligosaccharyltransferase complex | 2 |
| glycoprotein biosynthetic process | 1 |
| binding | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| endoplasmic reticulum membrane | 1 |
| membrane protein complex | 1 |
| endoplasmic reticulum protein-containing complex | 1 |
| transferase complex | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1060 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| OST4 | DAD1 | P46966 | 995 |
| OST4 | RPN2 | P04844 | 993 |
| OST4 | RPN1 | P04843 | 992 |
| OST4 | DDOST | P39656 | 991 |
| OST4 | STT3A | P46977 | 982 |
| OST4 | STT3B | Q8TCJ2 | 970 |
| OST4 | TMEM258 | P61165 | 904 |
| OST4 | TUSC3 | Q13454 | 858 |
| OST4 | OSTC | Q9NRP0 | 820 |
| OST4 | MAGT1 | Q9H0U3 | 754 |
| OST4 | KRTCAP2 | Q8N6L1 | 726 |
| OST4 | SSR3 | Q9UNL2 | 565 |
| OST4 | ALG5 | Q9Y673 | 494 |
| OST4 | PSMD8 | P48556 | 484 |
| OST4 | ALG13 | Q9NP73 | 455 |
IntAct
10 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| UBQLN1 | OST4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MSGN1 | OST4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| OST4 | UBQLN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DAD1 | RPN1 | psi-mi:“MI:0915”(physical association) | 0.530 |
| OST4 | ATL3 | psi-mi:“MI:0914”(association) | 0.350 |
| MSGN1 | OST4 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (111): OST4 (PCA), OST4 (Positive Genetic), OST4 (Two-hybrid), OST4 (Two-hybrid), OST4 (Affinity Capture-RNA), LIN54 (Affinity Capture-MS), SUPT6H (Affinity Capture-MS), GIGYF2 (Affinity Capture-MS), NFXL1 (Affinity Capture-MS), RIF1 (Affinity Capture-MS), ZC3H13 (Affinity Capture-MS), RBM26 (Affinity Capture-MS), RNF10 (Affinity Capture-MS), KRTCAP2 (Affinity Capture-MS), PACRGL (Affinity Capture-MS)
ESM2 similar proteins: A1Z7U3, B0BLS0, B1WNA1, B2ITV2, B2J4U1, B3MFK1, B3N7H1, B4GHS8, B4HSS0, B4J877, B4KQ08, B4MDV2, B4MJN5, B4P417, B4QH87, B5E1E8, P0C179, P0C427, P0C428, P0C6T2, P0CU66, P27387, P41608, P58246, P69674, P69675, Q06FP1, Q06RA5, Q0ZIZ2, Q14FD0, Q2JQR6, Q3M5W2, Q49KX1, Q4VZI7, Q6ENE7, Q6EYH5, Q6EYJ1, Q6EYJ9, Q7HIW5, Q7J193
Diamond homologs: A1Z7U3, B0BLS0, B3MFK1, B3N7H1, B4GHS8, B4HSS0, B4J877, B4KQ08, B4MDV2, B4MJN5, B4P417, B4QH87, B5E1E8, C7J0R5, C7J4U3, P0C6T2, P0CU66, Q54V54, Q8L986, Q99LX8, Q9LHK3, Q9SF57
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| OST4 | “form complex” | “OST-A complex” | binding |
| OST4 | “form complex” | “OST-B complex” | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
3 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 2 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
174 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:27071320:CGTTA:C | donor_loss | 1.0000 |
| 2:27071321:GTTA:G | donor_loss | 1.0000 |
| 2:27071322:TTAC:T | donor_loss | 1.0000 |
| 2:27071323:TACC:T | donor_loss | 1.0000 |
| 2:27071325:C:CG | donor_loss | 1.0000 |
| 2:27071349:T:A | donor_gain | 1.0000 |
| 2:27071353:T:TA | donor_gain | 1.0000 |
| 2:27071360:T:TA | donor_gain | 0.9900 |
| 2:27070720:CC:C | acceptor_gain | 0.9700 |
| 2:27070721:CC:C | acceptor_gain | 0.9700 |
| 2:27071464:C:CC | acceptor_gain | 0.9700 |
| 2:27070722:CT:C | acceptor_loss | 0.9400 |
| 2:27070723:T:G | acceptor_loss | 0.9400 |
| 2:27071592:G:A | donor_gain | 0.9400 |
| 2:27071324:A:AC | donor_gain | 0.9300 |
| 2:27071325:C:CC | donor_gain | 0.9300 |
| 2:27071459:TCATC:T | acceptor_gain | 0.9300 |
| 2:27071460:CATC:C | acceptor_gain | 0.9300 |
| 2:27071460:CATCC:C | acceptor_gain | 0.9300 |
| 2:27070722:C:CC | acceptor_gain | 0.9200 |
| 2:27071462:TCC:T | acceptor_loss | 0.9200 |
| 2:27071463:CCTG:C | acceptor_loss | 0.9200 |
| 2:27071464:C:T | acceptor_loss | 0.9200 |
| 2:27071465:T:G | acceptor_loss | 0.9200 |
| 2:27070719:ACC:A | acceptor_gain | 0.9100 |
| 2:27070720:CCC:C | acceptor_gain | 0.9100 |
| 2:27071466:G:C | acceptor_loss | 0.9100 |
| 2:27071595:TCTGA:T | donor_loss | 0.9100 |
| 2:27071596:CTGAC:C | donor_loss | 0.9100 |
| 2:27071597:TGACC:T | donor_loss | 0.9100 |
AlphaMissense
238 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:27071420:C:G | G15R | 0.993 |
| 2:27071443:A:T | L7H | 0.990 |
| 2:27071443:A:G | L7P | 0.983 |
| 2:27071395:A:T | V23D | 0.980 |
| 2:27071419:C:A | G15V | 0.978 |
| 2:27071419:C:T | G15D | 0.977 |
| 2:27071410:A:T | L18H | 0.976 |
| 2:27071431:G:T | A11D | 0.976 |
| 2:27071401:A:T | L21H | 0.975 |
| 2:27071420:C:A | G15C | 0.973 |
| 2:27071387:G:C | H26D | 0.972 |
| 2:27071452:T:A | D4V | 0.965 |
| 2:27071398:A:T | V22D | 0.964 |
| 2:27071401:A:C | L21R | 0.962 |
| 2:27071458:A:T | I2N | 0.962 |
| 2:27071410:A:C | L18R | 0.960 |
| 2:27071390:A:C | Y25D | 0.958 |
| 2:27071407:A:G | F19S | 0.958 |
| 2:27071422:A:C | L14R | 0.958 |
| 2:27071443:A:C | L7R | 0.958 |
| 2:27071384:A:C | Y27D | 0.954 |
| 2:27071378:C:G | A29P | 0.953 |
| 2:27071420:C:T | G15S | 0.953 |
| 2:27071392:A:G | L24P | 0.951 |
| 2:27071453:C:G | D4H | 0.950 |
| 2:27071385:G:C | H26Q | 0.948 |
| 2:27071385:G:T | H26Q | 0.948 |
| 2:27071410:A:G | L18P | 0.947 |
| 2:27071427:G:C | N12K | 0.947 |
| 2:27071427:G:T | N12K | 0.947 |
dbSNP variants (sampled 300 via entrez): RS1000267952 (2:27072428 G>C), RS1000791296 (2:27070469 A>G), RS1000822366 (2:27070677 G>C), RS1001155224 (2:27070943 A>C,G), RS1001257327 (2:27071817 T>C), RS1001708483 (2:27071634 C>A,G,T), RS1002379907 (2:27070894 G>C), RS1002410300 (2:27073561 G>A), RS1003827326 (2:27072509 G>A), RS1004199389 (2:27072186 T>A), RS1004717756 (2:27071616 C>G,T), RS1004826033 (2:27071788 G>T), RS1005692566 (2:27072562 C>A,G), RS1005998659 (2:27071086 G>A,C), RS1006029500 (2:27071359 T>C)
Disease associations
OMIM: gene MIM:618932 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010697_14 | Cortical surface area (min-P) | 2.000000e-09 |
| GCST010698_75 | Subcortical volume (min-P) | 2.000000e-13 |
| GCST010699_41 | Brain morphology (min-P) | 2.000000e-08 |
| GCST010700_38 | Cortical thickness (MOSTest) | 3.000000e-08 |
| GCST010701_56 | Cortical surface area (MOSTest) | 4.000000e-16 |
| GCST010702_20 | Subcortical volume (MOSTest) | 2.000000e-64 |
| GCST010703_76 | Brain morphology (MOSTest) | 1.000000e-16 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004346 | neuroimaging measurement |
| EFO:0004840 | cortical thickness |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
21 total (human), top 21 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, affects expression | 2 |
| Smoke | decreases expression, increases abundance | 2 |
| aristolochic acid I | decreases expression | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| lead acetate | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| isobutyl alcohol | affects cotreatment, decreases expression, increases abundance | 1 |
| chloropicrin | increases expression | 1 |
| pyrimidifen | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Cisplatin | increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Doxorubicin | affects expression | 1 |
| Gasoline | affects cotreatment, decreases expression, increases abundance | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Polycyclic Aromatic Hydrocarbons | affects cotreatment, decreases expression, increases abundance | 1 |
| Rotenone | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| 1-Methyl-3-isobutylxanthine | increases expression, affects cotreatment | 1 |
| Aflatoxin B1 | increases expression | 1 |
| Particulate Matter | affects cotreatment, decreases expression, increases abundance | 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.