OR8G1
gene geneOn this page
Also known as TPCR25HSTPCR25
Summary
OR8G1 (olfactory receptor family 8 subfamily G member 1, HGNC:8484) is a protein-coding gene on chromosome 11q24.2, encoding Olfactory receptor 8G1 (Q15617). Odorant receptor.
Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. This family member represents a polymorphic pseudogene, whereby some individuals have a functional allele that encodes a full-length protein, while others have a non-functional allele due to the presence of an early stop codon and a 3’ end deletion.
Source: NCBI Gene 26494 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 29 total
- MANE Select transcript:
NM_001002905
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:8484 |
| Approved symbol | OR8G1 |
| Name | olfactory receptor family 8 subfamily G member 1 |
| Location | 11q24.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TPCR25, HSTPCR25 |
| Ensembl gene | ENSG00000197849 |
| Ensembl biotype | protein_coding |
| Entrez | 26494 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000641972
RefSeq mRNA: 1 — MANE Select: NM_001002905
NM_001002905
CCDS: CCDS73407
Canonical transcript exons
ENST00000641972 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003812828 | 124249660 | 124254364 |
| ENSE00003812900 | 124247801 | 124247880 |
| ENSE00003813723 | 124241095 | 124241364 |
Expression profiles
Bgee: expression breadth tissue_specific, 7 present calls, max score 69.17.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0138 / max 12.6304, expressed in 3 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 117358 | 0.0138 | 3 |
Top tissues by expression
232 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 69.17 | gold quality |
| secondary oocyte | CL:0000655 | 62.32 | silver quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 52.54 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 45.68 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 43.37 | gold quality |
| oviduct epithelium | UBERON:0004804 | 41.63 | gold quality |
| vastus lateralis | UBERON:0001379 | 41.41 | gold quality |
| quadriceps femoris | UBERON:0001377 | 41.37 | gold quality |
| superficial temporal artery | UBERON:0001614 | 41.33 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 41.10 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 40.98 | gold quality |
| amniotic fluid | UBERON:0000173 | 40.69 | gold quality |
| jejunal mucosa | UBERON:0000399 | 40.59 | gold quality |
| biceps brachii | UBERON:0001507 | 40.57 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 40.45 | gold quality |
| myocardium | UBERON:0002349 | 40.45 | gold quality |
| gingival epithelium | UBERON:0001949 | 40.43 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 40.33 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 40.29 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 40.27 | gold quality |
| jejunum | UBERON:0002115 | 40.18 | gold quality |
| cartilage tissue | UBERON:0002418 | 40.06 | gold quality |
| mammary duct | UBERON:0001765 | 39.98 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 39.95 | gold quality |
| colonic mucosa | UBERON:0000317 | 39.86 | gold quality |
| deltoid | UBERON:0001476 | 39.83 | gold quality |
| saphenous vein | UBERON:0007318 | 39.83 | gold quality |
| parotid gland | UBERON:0001831 | 39.81 | gold quality |
| urethra | UBERON:0000057 | 39.80 | gold quality |
| heart right ventricle | UBERON:0002080 | 39.79 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.59 |
Regulation
Is transcription factor: no
Cross-species orthologs
27 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Or8g19 | ENSMUSG00000049708 |
| mus_musculus | Or8g30 | ENSMUSG00000057349 |
| mus_musculus | Or8g17 | ENSMUSG00000058820 |
| mus_musculus | Or8g21 | ENSMUSG00000059595 |
| mus_musculus | Or8g20 | ENSMUSG00000062649 |
| mus_musculus | Or8g28 | ENSMUSG00000063380 |
| mus_musculus | Or8g23 | ENSMUSG00000094182 |
| mus_musculus | Or8g32 | ENSMUSG00000094269 |
| mus_musculus | Or8g34 | ENSMUSG00000094745 |
| mus_musculus | Or8g26 | ENSMUSG00000094970 |
| mus_musculus | Or8g18 | ENSMUSG00000096109 |
| mus_musculus | Or8g27 | ENSMUSG00000096555 |
| rattus_norvegicus | ENSRNOG00000069156 | |
| rattus_norvegicus | Or8g18c | ENSRNOG00000069965 |
| rattus_norvegicus | Or8g21 | ENSRNOG00000070533 |
| rattus_norvegicus | Or8g30 | ENSRNOG00000073447 |
| rattus_norvegicus | Or8g20e | ENSRNOG00000075099 |
| rattus_norvegicus | Or8g34 | ENSRNOG00000075420 |
| rattus_norvegicus | Or8g34b | ENSRNOG00000075547 |
| rattus_norvegicus | Or8g26c | ENSRNOG00000076721 |
| rattus_norvegicus | Or8g26 | ENSRNOG00000079933 |
| rattus_norvegicus | Or8g28 | ENSRNOG00000082314 |
| rattus_norvegicus | Or8g23 | ENSRNOG00000082549 |
| rattus_norvegicus | Or8g17d | ENSRNOG00000082629 |
| rattus_norvegicus | Or8g20b | ENSRNOG00000082989 |
| rattus_norvegicus | Or8g20 | ENSRNOG00000088588 |
| rattus_norvegicus | Or8g18e | ENSRNOG00000090255 |
Paralogs (96): OR5C1 (ENSG00000148215), OR5F1 (ENSG00000149133), OR8K1 (ENSG00000150261), OR5M9 (ENSG00000150269), OR14K1 (ENSG00000153230), OR8J3 (ENSG00000167822), OR5I1 (ENSG00000167825), OR5AU1 (ENSG00000169327), OR9K2 (ENSG00000170605), OR8B12 (ENSG00000170953), OR10H3 (ENSG00000171936), OR8I2 (ENSG00000172154), OR8U1 (ENSG00000172199), OR10V1 (ENSG00000172289), OR5A1 (ENSG00000172320), OR5A2 (ENSG00000172324), OR5B12 (ENSG00000172362), OR5B2 (ENSG00000172365), OR9I1 (ENSG00000172377), OR9G4 (ENSG00000172457), OR5AR1 (ENSG00000172459), OR5AP2 (ENSG00000172464), OR8J1 (ENSG00000172487), OR5B3 (ENSG00000172769), OR10W1 (ENSG00000172772), OR5M3 (ENSG00000174937), OR5J2 (ENSG00000174957), OR10H4 (ENSG00000176231), OR5AN1 (ENSG00000176495), OR14C36 (ENSG00000177174), OR6B3 (ENSG00000178586), OR10Q1 (ENSG00000180475), OR8G2P (ENSG00000181214), OR5AK2 (ENSG00000181273), OR5AK3P (ENSG00000181282), OR5M8 (ENSG00000181371), OR8D4 (ENSG00000181518), OR8H1 (ENSG00000181693), OR8K5 (ENSG00000181752), OR8H3 (ENSG00000181761)
Protein
Protein identifiers
Olfactory receptor 8G1 — Q15617 (reviewed: Q15617)
Alternative names: Olfactory receptor OR11-281, Olfactory receptor TPCR25
All UniProt accessions (2): A0A126GVX6, Q15617
UniProt curated annotations — full annotation on UniProt →
Function. Odorant receptor.
Subcellular location. Cell membrane.
Polymorphism. A stop codon in the gene coding for this protein at position Tyr-259 is responsible for functional diversity, thus producing a pseudogene.
Similarity. Belongs to the G-protein coupled receptor 1 family.
RefSeq proteins (1): NP_001002905* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000276 | GPCR_Rhodpsn | Family |
| IPR000725 | Olfact_rcpt | Family |
| IPR017452 | GPCR_Rhodpsn_7TM | Domain |
Pfam: PF13853
UniProt features (20 total): topological domain 8, transmembrane region 7, glycosylation site 2, chain 1, disulfide bond 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q15617-F1 | 90.62 | 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.
Disulfide bonds (1): 97–189
Glycosylation sites (2): 5, 6
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9752946 | Expression and translocation of olfactory receptors |
MSigDB gene sets: 27 (showing top):
GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, GOMF_OLFACTORY_RECEPTOR_ACTIVITY, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, chr11q24, YOSHIMURA_MAPK8_TARGETS_UP, GOMF_ODORANT_BINDING, GOMF_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY, GOBP_SENSORY_PERCEPTION_OF_SMELL, GOBP_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, GOBP_DETECTION_OF_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION, RAO_BOUND_BY_SALL4_ISOFORM_A, WP_GPCRS_OTHER
GO Biological Process (4): G protein-coupled receptor signaling pathway (GO:0007186), sensory perception of smell (GO:0007608), signal transduction (GO:0007165), detection of chemical stimulus involved in sensory perception of smell (GO:0050911)
GO Molecular Function (3): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984), odorant binding (GO:0005549)
GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Olfactory Signaling Pathway | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transmembrane signaling receptor activity | 2 |
| G protein-coupled receptor activity | 1 |
| signal transduction | 1 |
| sensory perception of chemical stimulus | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| sensory perception of smell | 1 |
| detection of chemical stimulus involved in sensory perception | 1 |
| G protein-coupled receptor signaling pathway | 1 |
| detection of chemical stimulus involved in sensory perception of smell | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
174 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| OR8G1 | H0YL38 | H0YL38 | 433 |
| OR8G1 | ZNF280D | Q6N043 | 430 |
| OR8G1 | CRYBG2 | Q8N1P7 | 430 |
| OR8G1 | CYLC1 | P35663 | 418 |
| OR8G1 | KIAA1755 | Q5JYT7 | 417 |
| OR8G1 | FTHL17 | Q9BXU8 | 400 |
| OR8G1 | LCE1F | Q5T754 | 390 |
| OR8G1 | NIBAN2 | Q96TA1 | 365 |
| OR8G1 | CDYL2 | Q8N8U2 | 357 |
| OR8G1 | VWA5A | O00534 | 349 |
| OR8G1 | CHRNA10 | Q9GZZ6 | 348 |
| OR8G1 | C2orf78 | A6NCI8 | 348 |
| OR8G1 | GNG13 | Q9P2W3 | 323 |
| OR8G1 | ACSM5 | Q6NUN0 | 323 |
| OR8G1 | ZNF79 | Q15937 | 320 |
IntAct
116 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| OR8G1 | MAST2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| OR8G1 | GRID2IP | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| OR8G1 | TAMALIN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| OR8G1 | PDZK1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| OR8G1 | MAGI1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| OR8G1 | SHANK1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| OR8G1 | PDZD7 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| OR8G1 | MAGI2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAGI3 | OR8G1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| OR8G1 | ARHGEF12 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| OR8G1 | NHERF4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PARD3B | OR8G1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAST1 | OR8G1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TJP2 | OR8G1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| DLG1 | OR8G1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| OR8G1 | WHRN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| OR8G1 | SCRIB | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| OR8G1 | GORASP1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| OR8G1 | PICK1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| OR8G1 | NOS1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| APBA3 | OR8G1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| OR8G1 | TIAM2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| OR8G1 | IL16 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| OR8G1 | RAPGEF6 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| OR8G1 | APBA2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| OR8G1 | DLG3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| OR8G1 | LIN7B | psi-mi:“MI:0407”(direct interaction) | 0.440 |
BioGRID (1): OR8G1 (Affinity Capture-MS)
ESM2 similar proteins: A6NCV1, A6NF89, A6NJZ3, A6NL08, A6NM76, O95221, P0C7N1, P0C7N5, P37070, P37071, P37072, Q15617, Q60886, Q6IEU7, Q8N127, Q8NGE1, Q8NGG0, Q8NGG8, Q8NGP8, Q8NGP9, Q8NGR8, Q8NGS9, Q8NGT0, Q8NGT1, Q8NGX3, Q8NH01, Q8NH10, Q8NH51, Q8NH69, Q8VEW5, Q8VF65, Q8VF66, Q8VF76, Q8VFD0, Q8VFD3, Q8VFK2, Q8VG02, Q8VG03, Q8VG04, Q8VG07
Diamond homologs: A0A2R8YED5, O14581, O43749, O76099, O95221, P0C626, P0C7N1, P0C7N5, P0DN81, P23266, P23275, P30955, P47890, P58173, P58181, P59922, Q15617, Q15619, Q15622, Q60878, Q60881, Q60895, Q6IEU7, Q6UXT6, Q7TQQ0, Q7Z3T1, Q8N0Y5, Q8N146, Q8N162, Q8N628, Q8NG98, Q8NGA1, Q8NGC2, Q8NGE5, Q8NGF4, Q8NGF8, Q8NGG0, Q8NGG3, Q8NGG4, Q8NGG8
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 72 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Ras activation upon Ca2+ influx through NMDA receptor | 5 | 59.5× | 7e-07 |
| Unblocking of NMDA receptors, glutamate binding and activation | 5 | 56.6× | 7e-07 |
| Negative regulation of NMDA receptor-mediated neuronal transmission | 5 | 56.6× | 7e-07 |
| Assembly and cell surface presentation of NMDA receptors | 10 | 52.9× | 2e-13 |
| Dopamine Neurotransmitter Release Cycle | 5 | 51.7× | 1e-06 |
| Long-term potentiation | 5 | 49.6× | 1e-06 |
| Neurexins and neuroligins | 11 | 45.1× | 9e-14 |
| Protein-protein interactions at synapses | 7 | 38.7× | 3e-08 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| establishment or maintenance of epithelial cell apical/basal polarity | 11 | 92.6× | 4e-17 |
| protein localization to synapse | 6 | 66.6× | 4e-08 |
| receptor clustering | 7 | 63.3× | 3e-09 |
| regulation of postsynaptic membrane neurotransmitter receptor levels | 6 | 43.1× | 4e-07 |
| cell-cell adhesion | 10 | 14.7× | 1e-07 |
| protein-containing complex assembly | 8 | 13.2× | 8e-06 |
| chemical synaptic transmission | 7 | 7.8× | 8e-04 |
| intracellular signal transduction | 8 | 4.4× | 7e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
29 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 25 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
322 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:124249700:G:GG | donor_gain | 0.8600 |
| 11:124249704:C:CG | donor_gain | 0.8600 |
| 11:124249773:GAATC:G | donor_gain | 0.8200 |
| 11:124249702:GAC:G | donor_gain | 0.8100 |
| 11:124249699:A:AG | donor_gain | 0.8000 |
| 11:124249790:GTG:G | donor_gain | 0.8000 |
| 11:124249774:A:T | donor_gain | 0.7600 |
| 11:124249700:GTGAC:G | donor_gain | 0.7500 |
| 11:124249701:TGACT:T | donor_gain | 0.7500 |
| 11:124249702:GACTG:G | donor_gain | 0.7500 |
| 11:124249703:ACTGA:A | donor_gain | 0.7500 |
| 11:124249704:C:G | donor_gain | 0.7200 |
| 11:124249783:G:GA | donor_gain | 0.7200 |
| 11:124249792:G:GA | donor_gain | 0.6900 |
| 11:124249680:C:A | donor_gain | 0.6800 |
| 11:124249866:GCA:G | acceptor_gain | 0.6700 |
| 11:124249748:C:G | donor_gain | 0.6600 |
| 11:124250088:A:AG | donor_gain | 0.6600 |
| 11:124249868:A:AG | acceptor_gain | 0.6500 |
| 11:124249869:G:GG | acceptor_gain | 0.6500 |
| 11:124249914:A:G | acceptor_gain | 0.6500 |
| 11:124250345:A:AG | acceptor_gain | 0.6500 |
| 11:124250346:G:GG | acceptor_gain | 0.6500 |
| 11:124249677:T:G | donor_gain | 0.6400 |
| 11:124250346:GCAT:G | acceptor_gain | 0.6400 |
| 11:124249683:G:GT | donor_gain | 0.6300 |
| 11:124249807:C:T | donor_gain | 0.6300 |
| 11:124249826:C:G | donor_gain | 0.6300 |
| 11:124249869:GTCT:G | acceptor_gain | 0.6100 |
| 11:124250331:T:G | acceptor_gain | 0.6100 |
AlphaMissense
2056 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:124249709:T:C | F12L | 0.918 |
| 11:124249711:C:A | F12L | 0.918 |
| 11:124249711:C:G | F12L | 0.918 |
| 11:124250546:A:C | S291R | 0.850 |
| 11:124250548:C:A | S291R | 0.850 |
| 11:124250548:C:G | S291R | 0.850 |
| 11:124249710:T:C | F12S | 0.841 |
| 11:124250177:T:C | F168L | 0.835 |
| 11:124250179:C:A | F168L | 0.835 |
| 11:124250179:C:G | F168L | 0.835 |
| 11:124250207:T:C | F178L | 0.827 |
| 11:124250209:C:A | F178L | 0.827 |
| 11:124250209:C:G | F178L | 0.827 |
| 11:124250306:A:C | S211R | 0.827 |
| 11:124250308:C:A | S211R | 0.827 |
| 11:124250308:C:G | S211R | 0.827 |
| 11:124250429:T:C | F252L | 0.827 |
| 11:124250431:T:A | F252L | 0.827 |
| 11:124250431:T:G | F252L | 0.827 |
| 11:124249766:T:C | F31L | 0.816 |
| 11:124249768:C:A | F31L | 0.816 |
| 11:124249768:C:G | F31L | 0.816 |
| 11:124250533:C:A | N286K | 0.788 |
| 11:124250533:C:G | N286K | 0.788 |
| 11:124250383:A:C | K236N | 0.784 |
| 11:124250383:A:T | K236N | 0.784 |
| 11:124250399:A:C | S242R | 0.774 |
| 11:124250401:C:A | S242R | 0.774 |
| 11:124250401:C:G | S242R | 0.774 |
| 11:124250210:T:A | C179S | 0.769 |
dbSNP variants (sampled 300 via entrez): RS1000660106 (11:124254188 T>C), RS1001151606 (11:124240716 G>A), RS1001153944 (11:124252524 G>A,T), RS1001437572 (11:124239468 T>A), RS1001712152 (11:124241737 G>A), RS1001720017 (11:124244583 A>G), RS1001762011 (11:124252067 A>G), RS1001892493 (11:124246572 A>G), RS1001953828 (11:124247711 AAGAGAGAGAGGG>A), RS1002013409 (11:124240871 T>G), RS1002784950 (11:124251792 T>G), RS1002989158 (11:124243247 A>G), RS1003160880 (11:124248725 A>G,T), RS1003686177 (11:124239175 A>C), RS1003852265 (11:124243754 G>A)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
5 total (human), top 5 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| ferrous chloride | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Acetaminophen | decreases expression | 1 |
| Asbestos, Crocidolite | affects 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.