BMP8A
geneOn this page
Also known as OP-2Op2
Summary
BMP8A (bone morphogenetic protein 8a, HGNC:21650) is a protein-coding gene on chromosome 1p34.3, encoding Bone morphogenetic protein 8A (Q7Z5Y6). Induces cartilage and bone formation.
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein may play a role in development of the reproductive system. This gene may have arose from a gene duplication event and its gene duplicate is also present on chromosome 1.
Source: NCBI Gene 353500 — RefSeq curated summary.
At a glance
- GWAS associations: 15
- Clinical variants (ClinVar): 88 total — 1 pathogenic
- MANE Select transcript:
NM_181809
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21650 |
| Approved symbol | BMP8A |
| Name | bone morphogenetic protein 8a |
| Location | 1p34.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | OP-2, Op2 |
| Ensembl gene | ENSG00000183682 |
| Ensembl biotype | protein_coding |
| OMIM | 620847 |
| Entrez | 353500 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000331593, ENST00000970787
RefSeq mRNA: 1 — MANE Select: NM_181809
NM_181809
CCDS: CCDS437
Canonical transcript exons
ENST00000331593 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001336239 | 39525649 | 39529869 |
| ENSE00001384475 | 39491636 | 39492325 |
| ENSE00001607987 | 39511756 | 39511904 |
| ENSE00001648333 | 39522403 | 39522482 |
| ENSE00001663345 | 39523007 | 39523117 |
| ENSE00001706380 | 39521376 | 39521570 |
| ENSE00001720983 | 39511174 | 39511363 |
Expression profiles
Bgee: expression breadth ubiquitous, 166 present calls, max score 91.73.
FANTOM5 (CAGE): breadth broad, TPM avg 0.8574 / max 108.5483, expressed in 304 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 2318 | 0.8086 | 283 |
| 201477 | 0.0488 | 18 |
Top tissues by expression
281 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of thyroid gland | UBERON:0001119 | 91.73 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 90.48 | gold quality |
| thyroid gland | UBERON:0002046 | 89.88 | gold quality |
| periodontal ligament | UBERON:0008266 | 87.36 | gold quality |
| tibia | UBERON:0000979 | 80.40 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 79.99 | gold quality |
| spinal cord | UBERON:0002240 | 78.96 | gold quality |
| left ovary | UBERON:0002119 | 76.00 | gold quality |
| olfactory bulb | UBERON:0002264 | 75.95 | gold quality |
| right ovary | UBERON:0002118 | 75.55 | gold quality |
| type B pancreatic cell | CL:0000169 | 75.13 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 74.81 | gold quality |
| islet of Langerhans | UBERON:0000006 | 74.69 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 73.78 | gold quality |
| tibial nerve | UBERON:0001323 | 73.69 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 73.40 | silver quality |
| right uterine tube | UBERON:0001302 | 72.94 | gold quality |
| right frontal lobe | UBERON:0002810 | 72.55 | gold quality |
| ovary | UBERON:0000992 | 72.44 | gold quality |
| prefrontal cortex | UBERON:0000451 | 71.58 | gold quality |
| pancreas | UBERON:0001264 | 71.43 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 70.77 | gold quality |
| thymus | UBERON:0002370 | 70.71 | silver quality |
| body of pancreas | UBERON:0001150 | 70.60 | gold quality |
| left uterine tube | UBERON:0001303 | 70.24 | gold quality |
| frontal cortex | UBERON:0001870 | 70.20 | gold quality |
| substantia nigra | UBERON:0002038 | 70.15 | gold quality |
| cingulate cortex | UBERON:0003027 | 70.15 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 70.12 | gold quality |
| midbrain | UBERON:0001891 | 70.01 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.58 |
| E-CURD-11 | no | 110.31 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
124 targeting BMP8A, 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-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-6793-5P | 99.97 | 65.95 | 758 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
| HSA-MIR-30E-3P | 99.87 | 69.68 | 2942 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-1299 | 99.77 | 71.24 | 2389 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-4679 | 99.76 | 69.19 | 1229 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
| HSA-MIR-148B-3P | 99.74 | 73.75 | 1700 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6779-5P | 99.70 | 65.76 | 2363 |
| HSA-MIR-30B-3P | 99.70 | 65.76 | 2325 |
| HSA-MIR-3689A-3P | 99.70 | 65.73 | 2306 |
| HSA-MIR-3689B-3P | 99.70 | 65.71 | 2311 |
| HSA-MIR-3689C | 99.70 | 65.71 | 2311 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
Literature-anchored findings (GeneRIF, showing 6)
- Authors found that Bmp8a, but not Bmp8b, was expressed predominantly in the neonatal mouse spermatogonia. Although most BMPs induce activation of SMADs 1, 5, and 8 (SMAD1/5/8), but not SMADs 2 and 3 (SMAD2/3), they found that BMP8A induced signaling through both sets of transcription factors. (PMID:28465413)
- Serous BMP8A has Clinical Significance in the Ultrasonic Diagnosis of Thyroid Cancer and Promotes Thyroid Cancer Cell Progression. (PMID:31656161)
- Human BMP8A suppresses luteinization of rat granulosa cells via the SMAD1/5/8 pathway. (PMID:31940275)
- Bone morphogenetic protein 8A (BMP8) is highly expressed in clear cell renal cell carcinoma (ccRCC) suggesting a poor prognosis of ccRCC. BMP8 activates Nrf2 regulated reactive oxygen balance, and by regulating the transcription level of TRIM24, it is involved in the regulation of the Wnt pathway to promote the proliferation, invasion and metastasis of ccRCC and the resistance of As2O3. (PMID:32128917)
- Human bone morphogenetic protein 8A promotes expansion and prevents apoptosis of cumulus cells in vitro. (PMID:33338549)
- Recent progress in the biology and physiology of BMP-8a. (PMID:36594156)
Cross-species orthologs
1 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | bmp8a | ENSDARG00000035677 |
Paralogs (31): TGFB2 (ENSG00000092969), BMP7 (ENSG00000101144), TGFB1 (ENSG00000105329), BMP5 (ENSG00000112175), BMP8B (ENSG00000116985), TGFB3 (ENSG00000119699), INHBA (ENSG00000122641), INHA (ENSG00000123999), BMP4 (ENSG00000125378), BMP2 (ENSG00000125845), GDF5 (ENSG00000125965), GDF1 (ENSG00000130283), BMP15 (ENSG00000130385), GDF15 (ENSG00000130513), GDF11 (ENSG00000135414), MSTN (ENSG00000138379), INHBE (ENSG00000139269), LEFTY2 (ENSG00000143768), GDF7 (ENSG00000143869), BMP3 (ENSG00000152785), BMP6 (ENSG00000153162), GDF6 (ENSG00000156466), NODAL (ENSG00000156574), INHBB (ENSG00000163083), BMP10 (ENSG00000163217), GDF9 (ENSG00000164404), INHBC (ENSG00000175189), GDF3 (ENSG00000184344), LEFTY1 (ENSG00000243709), GDF2 (ENSG00000263761), GDF10 (ENSG00000266524)
Protein
Protein identifiers
Bone morphogenetic protein 8A — Q7Z5Y6 (reviewed: Q7Z5Y6)
All UniProt accessions (1): Q7Z5Y6
UniProt curated annotations — full annotation on UniProt →
Function. Induces cartilage and bone formation. May be the osteoinductive factor responsible for the phenomenon of epithelial osteogenesis. Plays a role in calcium regulation and bone homeostasis. Signaling protein involved in regulation of thermogenesis and energy balance. Proposed to increase the peripheral response of brown adipose tissue (BAT) to adrenergic stimulation while acting centrally in the hypothalamus to increase sympathetic output to BAT. Growth factor of the TGF-beta superfamily that plays important role in various biological processes, including spermatogenesis, osteogenesis, steroidogenesis as well as regulation of energy balance. Initiates the canonical BMP signaling cascade by associating with type I receptor BMPR1A and type II receptor BMPR2. Once all three components are bound together in a complex at the cell surface, BMPR2 phosphorylates and activates BMPR1A. In turn, BMPR1A propagates signal by phosphorylating SMAD1/5/8 that travel to the nucleus and act as activators and repressors of transcription of target genes. In addition, activates the SMAD2/3 pathway.
Subunit / interactions. Homodimer; disulfide-linked.
Subcellular location. Secreted.
Similarity. Belongs to the TGF-beta family.
RefSeq proteins (1): NP_861525* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001111 | TGF-b_propeptide | Domain |
| IPR001839 | TGF-b_C | Domain |
| IPR015615 | TGF-beta-like | Family |
| IPR017948 | TGFb_CS | Conserved_site |
| IPR029034 | Cystine-knot_cytokine | Homologous_superfamily |
Pfam: PF00019, PF00688
UniProt features (11 total): disulfide bond 4, sequence variant 2, glycosylation site 2, signal peptide 1, propeptide 1, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q7Z5Y6-F1 | 76.87 | 0.43 |
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 (4): 301–367, 330–399, 334–401, 366
Glycosylation sites (2): 158, 343
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 119 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GSE45365_NK_CELL_VS_CD8A_DC_DN, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_FGF3, BENPORATH_ES_WITH_H3K27ME3, CHIARADONNA_NEOPLASTIC_TRANSFORMATION_KRAS_DN, GOBP_CARTILAGE_DEVELOPMENT, KEGG_HEDGEHOG_SIGNALING_PATHWAY, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_RESPONSE_TO_DIETARY_EXCESS, GOBP_INSULIN_SECRETION, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_NEGATIVE_REGULATION_OF_PEPTIDE_SECRETION, GOBP_HORMONE_TRANSPORT, GOMF_GROWTH_FACTOR_ACTIVITY, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_LOCALIZATION
GO Biological Process (8): ossification (GO:0001503), diet induced thermogenesis (GO:0002024), cell differentiation (GO:0030154), BMP signaling pathway (GO:0030509), negative regulation of insulin secretion (GO:0046676), cartilage development (GO:0051216), energy homeostasis (GO:0097009), developmental process (GO:0032502)
GO Molecular Function (2): cytokine activity (GO:0005125), growth factor activity (GO:0008083)
GO Cellular Component (2): obsolete extracellular space (GO:0005615), extracellular region (GO:0005576)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| receptor ligand activity | 2 |
| multicellular organismal process | 1 |
| response to dietary excess | 1 |
| adaptive thermogenesis | 1 |
| cellular developmental process | 1 |
| cellular response to BMP stimulus | 1 |
| transforming growth factor beta receptor superfamily signaling pathway | 1 |
| insulin secretion | 1 |
| negative regulation of protein secretion | 1 |
| regulation of insulin secretion | 1 |
| negative regulation of peptide hormone secretion | 1 |
| skeletal system development | 1 |
| animal organ development | 1 |
| connective tissue development | 1 |
| multicellular organismal-level homeostasis | 1 |
| biological_process | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
546 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| BMP8A | BMP7 | P18075 | 882 |
| BMP8A | BMPR2 | Q13873 | 718 |
| BMP8A | BMPR1B | P78366 | 609 |
| BMP8A | ACVR1 | Q04771 | 601 |
| BMP8A | ACVR2A | P27037 | 581 |
| BMP8A | CDS1 | Q92903 | 571 |
| BMP8A | ATP10A | O60312 | 566 |
| BMP8A | MAGEL2 | Q9UJ55 | 548 |
| BMP8A | MKRN3 | Q13064 | 544 |
| BMP8A | ACVR2B | Q13705 | 536 |
| BMP8A | HTR2C | P28335 | 497 |
| BMP8A | SCG2 | P13521 | 497 |
| BMP8A | NDN | Q99608 | 490 |
| BMP8A | OCA2 | Q04671 | 456 |
| BMP8A | SNRPN | P14648 | 440 |
IntAct
21 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| Dlg4 | BMP8A | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CANX | HLA-A | psi-mi:“MI:0914”(association) | 0.350 |
| PI15 | GLS | psi-mi:“MI:0914”(association) | 0.350 |
| LY86 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM87A | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| CFC1 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| PI15 | psi-mi:“MI:0914”(association) | 0.350 | |
| GPIHBP1 | SAC3D1 | psi-mi:“MI:0914”(association) | 0.350 |
| PDGFRA | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| PRG2 | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| SDF2L1 | MANBA | psi-mi:“MI:0914”(association) | 0.350 |
| C1QB | MANBA | psi-mi:“MI:0914”(association) | 0.350 |
| TRGV3 | MANBA | psi-mi:“MI:0914”(association) | 0.350 |
| GGH | MANBA | psi-mi:“MI:0914”(association) | 0.350 |
| LYZL1 | MAN2B1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLURP1 | MAN2B1 | psi-mi:“MI:0914”(association) | 0.350 |
| NXPH3 | ACACB | psi-mi:“MI:0914”(association) | 0.350 |
| TAFAZZIN | BCKDK | psi-mi:“MI:0914”(association) | 0.350 |
| BRINP1 | HSPA5 | psi-mi:“MI:0914”(association) | 0.350 |
| GPC3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (19): BMP8A (Affinity Capture-RNA), BMP8A (Affinity Capture-MS), BMP8A (Affinity Capture-MS), BMP8A (Affinity Capture-MS), BMP8A (Affinity Capture-MS), BMP8A (Affinity Capture-MS), BMP8A (Affinity Capture-MS), BMP8A (Affinity Capture-MS), BMP8A (Affinity Capture-MS), BMP8A (Affinity Capture-MS), BMP8A (Affinity Capture-MS), BMP8A (Affinity Capture-MS), BMP8A (Affinity Capture-MS), BMP8A (Affinity Capture-MS), BMP8A (Affinity Capture-MS)
ESM2 similar proteins: A2AJ76, A8T644, A8T650, A8T655, A8T658, A8T662, A8T666, A8T672, A8T677, A8T682, A8T688, A8T695, A8T6A1, A8T6A6, D3Z7H8, O75173, O95450, O95479, P04088, P21709, P29121, P34820, P34821, P55103, P55104, P56201, P59996, P79331, Q0V8J4, Q13219, Q16549, Q5RFQ8, Q60750, Q61139, Q62849, Q6UW60, Q78EH2, Q7Z5Y6, Q80W65, Q8BNJ2
Diamond homologs: A8E7N9, G5EEL5, O08717, O18828, O18830, O19006, O42222, O46564, O46576, O88959, O95390, O95393, O95972, P03970, P07713, P07995, P08476, P09534, P12643, P12644, P12645, P18075, P18331, P20722, P20863, P21274, P21275, P22003, P22004, P22444, P23359, P25703, P27092, P27539, P30884, P30885, P30886, P34820, P34821, P34822
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
88 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 72 |
| Likely benign | 8 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 58072 | GRCh38/hg38 1p34.3-34.2(chr1:39360747-40900817)x3 | Pathogenic |
SpliceAI
2283 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:39492324:GG:G | donor_gain | 1.0000 |
| 1:39492325:GG:G | donor_gain | 1.0000 |
| 1:39492326:G:GG | donor_gain | 1.0000 |
| 1:39511785:A:AG | acceptor_gain | 1.0000 |
| 1:39511786:G:GG | acceptor_gain | 1.0000 |
| 1:39511786:GAC:G | acceptor_gain | 1.0000 |
| 1:39511900:GGACG:G | donor_gain | 1.0000 |
| 1:39511901:G:GT | donor_gain | 1.0000 |
| 1:39511906:T:A | donor_loss | 1.0000 |
| 1:39522398:TGCAG:T | acceptor_loss | 1.0000 |
| 1:39522400:CAGAT:C | acceptor_loss | 1.0000 |
| 1:39522401:A:AG | acceptor_gain | 1.0000 |
| 1:39522401:A:T | acceptor_loss | 1.0000 |
| 1:39522402:G:GG | acceptor_gain | 1.0000 |
| 1:39522402:GAT:G | acceptor_gain | 1.0000 |
| 1:39523003:CCAG:C | acceptor_loss | 1.0000 |
| 1:39523004:CAGG:C | acceptor_loss | 1.0000 |
| 1:39523005:A:AG | acceptor_gain | 1.0000 |
| 1:39523005:A:C | acceptor_loss | 1.0000 |
| 1:39523005:AG:A | acceptor_gain | 1.0000 |
| 1:39523006:G:GG | acceptor_gain | 1.0000 |
| 1:39523006:GG:G | acceptor_gain | 1.0000 |
| 1:39523006:GGA:G | acceptor_gain | 1.0000 |
| 1:39523006:GGAC:G | acceptor_gain | 1.0000 |
| 1:39523006:GGACT:G | acceptor_gain | 1.0000 |
| 1:39523115:CTGGT:C | donor_loss | 1.0000 |
| 1:39523116:TGGT:T | donor_loss | 1.0000 |
| 1:39523118:G:GA | donor_loss | 1.0000 |
| 1:39523118:G:GG | donor_gain | 1.0000 |
| 1:39523121:A:AG | donor_gain | 1.0000 |
AlphaMissense
2601 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:39522463:T:G | F310C | 0.999 |
| 1:39523047:G:A | C330Y | 0.999 |
| 1:39523092:C:T | T345I | 0.999 |
| 1:39522462:T:C | F310L | 0.998 |
| 1:39522464:C:A | F310L | 0.998 |
| 1:39522464:C:G | F310L | 0.998 |
| 1:39523046:T:A | C330S | 0.998 |
| 1:39523047:G:C | C330S | 0.998 |
| 1:39523047:G:T | C330F | 0.998 |
| 1:39523048:T:G | C330W | 0.998 |
| 1:39522435:T:A | C301S | 0.997 |
| 1:39522436:G:C | C301S | 0.997 |
| 1:39522457:T:A | V308D | 0.997 |
| 1:39523052:G:T | G332W | 0.997 |
| 1:39523058:T:A | C334S | 0.997 |
| 1:39523059:G:C | C334S | 0.997 |
| 1:39525689:G:A | C367Y | 0.997 |
| 1:39525785:G:A | C399Y | 0.997 |
| 1:39522463:T:C | F310S | 0.996 |
| 1:39523052:G:A | G332R | 0.996 |
| 1:39523052:G:C | G332R | 0.996 |
| 1:39523053:G:T | G332V | 0.996 |
| 1:39523058:T:C | C334R | 0.996 |
| 1:39523064:T:C | F336L | 0.996 |
| 1:39523065:T:G | F336C | 0.996 |
| 1:39523066:C:A | F336L | 0.996 |
| 1:39523066:C:G | F336L | 0.996 |
| 1:39525688:T:A | C367S | 0.996 |
| 1:39525689:G:C | C367S | 0.996 |
| 1:39525790:T:A | C401S | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000018830 (1:39528098 T>C,G), RS1000230286 (1:39523285 G>GGT), RS1000240726 (1:39499156 C>T), RS1000283572 (1:39503010 C>T), RS1000305093 (1:39492570 C>A,T), RS1000383973 (1:39502778 T>A), RS1000616159 (1:39501412 T>C), RS1000658300 (1:39526511 G>A), RS1000668441 (1:39501071 G>A,C,T), RS1000828903 (1:39509853 G>A), RS1000832613 (1:39520646 T>C), RS1000870005 (1:39507696 G>A,C,T), RS1000928357 (1:39510094 C>T), RS1001002935 (1:39526749 T>A), RS1001024177 (1:39529580 A>T)
Disease associations
OMIM: gene MIM:620847 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
15 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004482_15 | Peripheral arterial disease (traffic-related air pollution interaction) | 2.000000e-08 |
| GCST004482_9 | Peripheral arterial disease (traffic-related air pollution interaction) | 7.000000e-06 |
| GCST006804_41 | Red cell distribution width | 4.000000e-14 |
| GCST007611_13 | Chronic obstructive pulmonary disease or high blood pressure (pleiotropy) | 7.000000e-09 |
| GCST007656_12 | Chronic obstructive pulmonary disease or resting heart rate (pleiotropy) | 3.000000e-11 |
| GCST009305_5 | California verbal learning test score | 5.000000e-06 |
| GCST010696_14 | Cortical thickness (min-P) | 9.000000e-12 |
| GCST010697_24 | Cortical surface area (min-P) | 2.000000e-08 |
| GCST010698_13 | Subcortical volume (min-P) | 7.000000e-09 |
| GCST010699_109 | Brain morphology (min-P) | 4.000000e-08 |
| GCST010700_59 | Cortical thickness (MOSTest) | 8.000000e-10 |
| GCST010701_84 | Cortical surface area (MOSTest) | 6.000000e-09 |
| GCST010702_174 | Subcortical volume (MOSTest) | 7.000000e-16 |
| GCST010703_193 | Brain morphology (MOSTest) | 9.000000e-11 |
| GCST90011900_38 | Serum alkaline phosphatase levels | 1.000000e-15 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007908 | traffic air pollution measurement |
| EFO:0009188 | Red cell distribution width |
| EFO:0004874 | memory performance |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004840 | cortical thickness |
| EFO:0004533 | alkaline phosphatase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
18 total (human), top 18 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | increases methylation, decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| propionaldehyde | increases expression | 1 |
| bisphenol A | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | increases expression, affects response to substance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| monomethylarsonous acid | increases expression | 1 |
| Irinotecan | increases expression | 1 |
| Air Pollutants | increases response to substance | 1 |
| Arsenic | affects methylation | 1 |
| Atrazine | increases expression | 1 |
| Vehicle Emissions | increases response to substance | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
| Lipopolysaccharides | affects response to substance, increases expression | 1 |
| Quercetin | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Tetrachlorodibenzodioxin | decreases expression | 1 |
| Urethane | 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): peripheral arterial disease