BRINP3
geneOn this page
Also known as DBCCR1LDBCCR1L1
Summary
BRINP3 (BMP/retinoic acid inducible neural specific 3, HGNC:22393) is a protein-coding gene on chromosome 1q31.1, encoding BMP/retinoic acid-inducible neural-specific protein 3 (Q76B58). Inhibits neuronal cell proliferation by negative regulation of the cell cycle transition.
This gene is overexpressed in pituitary tumors but is underexpressed in tongue squamous cell carcinomas, ulcerative colitis, and peri-implantitis. Polymorphisms that increase expression of this gene have been shown to increase vascular inflammation, and an association of this gene with myocardial infarction has been demonstrated. Finally, hypermethylation of this gene may find usefulness as a biomarker for gastric cancer. Two transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 339479 — RefSeq curated summary.
At a glance
- GWAS associations: 24
- Clinical variants (ClinVar): 113 total
- MANE Select transcript:
NM_199051
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:22393 |
| Approved symbol | BRINP3 |
| Name | BMP/retinoic acid inducible neural specific 3 |
| Location | 1q31.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DBCCR1L, DBCCR1L1 |
| Ensembl gene | ENSG00000162670 |
| Ensembl biotype | protein_coding |
| OMIM | 618390 |
| Entrez | 339479 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 4 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000367462, ENST00000445957, ENST00000463404, ENST00000631494, ENST00000633243, ENST00000956272
RefSeq mRNA: 2 — MANE Select: NM_199051
NM_001317188, NM_199051
CCDS: CCDS1373
Canonical transcript exons
ENST00000367462 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001370507 | 190281560 | 190281750 |
| ENSE00003494147 | 190226082 | 190226318 |
| ENSE00003564460 | 190097658 | 190099134 |
| ENSE00003639993 | 190454655 | 190454940 |
| ENSE00003663090 | 190160668 | 190160890 |
| ENSE00003669051 | 190234372 | 190234477 |
| ENSE00003676709 | 190264865 | 190265055 |
| ENSE00003781667 | 190477448 | 190477864 |
Expression profiles
Bgee: expression breadth ubiquitous, 172 present calls, max score 87.78.
FANTOM5 (CAGE): breadth broad, TPM avg 2.0536 / max 167.6098, expressed in 213 samples.
FANTOM5 promoters (14 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 16400 | 0.8528 | 138 |
| 16393 | 0.4766 | 125 |
| 16402 | 0.1694 | 72 |
| 16399 | 0.1062 | 49 |
| 16397 | 0.0986 | 50 |
| 16401 | 0.0634 | 43 |
| 16398 | 0.0603 | 32 |
| 16392 | 0.0478 | 32 |
| 16396 | 0.0467 | 22 |
| 16395 | 0.0390 | 10 |
Top tissues by expression
279 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 87.78 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.73 | gold quality |
| endothelial cell | CL:0000115 | 84.04 | gold quality |
| prefrontal cortex | UBERON:0000451 | 83.99 | gold quality |
| primary visual cortex | UBERON:0002436 | 83.96 | gold quality |
| right frontal lobe | UBERON:0002810 | 83.51 | gold quality |
| amygdala | UBERON:0001876 | 83.21 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 82.94 | gold quality |
| cingulate cortex | UBERON:0003027 | 82.09 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 81.98 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 81.95 | gold quality |
| neocortex | UBERON:0001950 | 81.56 | gold quality |
| frontal cortex | UBERON:0001870 | 81.45 | gold quality |
| hypothalamus | UBERON:0001898 | 80.72 | gold quality |
| cortical plate | UBERON:0005343 | 80.51 | gold quality |
| cerebral cortex | UBERON:0000956 | 79.99 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 79.94 | gold quality |
| cerebellar cortex | UBERON:0002129 | 79.89 | gold quality |
| nucleus accumbens | UBERON:0001882 | 79.75 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 79.53 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 79.23 | gold quality |
| caudate nucleus | UBERON:0001873 | 79.07 | gold quality |
| telencephalon | UBERON:0001893 | 79.06 | gold quality |
| occipital lobe | UBERON:0002021 | 78.70 | gold quality |
| cerebellum | UBERON:0002037 | 78.45 | gold quality |
| temporal lobe | UBERON:0001871 | 78.43 | gold quality |
| rectum | UBERON:0001052 | 77.70 | gold quality |
| colonic epithelium | UBERON:0000397 | 76.68 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 76.53 | gold quality |
| putamen | UBERON:0001874 | 75.90 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-35 | yes | 81.07 |
| E-HCAD-25 | yes | 20.83 |
| E-GEOD-93593 | yes | 5.18 |
| E-ANND-3 | no | 4.02 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
79 targeting BRINP3, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518E-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-519A-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519B-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519C-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-522-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-523-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-526A-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-520G-5P | 99.99 | 66.76 | 658 |
| HSA-MIR-12121 | 99.99 | 66.64 | 255 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-4715-3P | 99.98 | 66.03 | 670 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
Literature-anchored findings (GeneRIF, showing 14)
- BRINP3 is a mitochondrially localized protein that is selectively up-regulated in human gonadotropinomas; its actions to increase proliferation, migration, and invasion suggest it may play an important role in pituitary tumorigenesis (PMID:17138656)
- These data implicate FAM5C alleles in the risk of myocardial infarction and suggest further functional studies of FAM5C are required to identify the gene’s contribution to atherosclerosis (PMID:18430236)
- Loss of FAM5C is associated with tongue squamous cell carcinoma. (PMID:19787213)
- FAM5C mRNA expression was significantly higher in aggressive periodontitis diseased versus healthy sites, and was found to be correlated to the IL-1beta, IL-17A, IL-4 and RANKL mRNA levels. (PMID:20383335)
- findings suggest a protective effect of T allele in women with a history of myocardial infarction (MI;) genotype of FAM5C rs10920501 explained about 7percent of variability of age of onset of coronary heart disease in women who have had an MI; FAM5C remains a gene of interest in a complex disease process (PMID:22013132)
- expression does not contribute to chronic periodontitis (PMID:22355820)
- Hypermethylated FAM5C and MYLK in serum are strongly associated with the development of gastric cancer and can be used as potential biomarkers for diagnosis and pre-warning. (PMID:22377736)
- Under expression of BRINP3 is associated with the pathogenesis of ulcerative colitis. (PMID:25171508)
- Data show that family with sequence similarity 5 member C protein FAM5C-positive endothelium expressed intercellular adhesion molecule-1 (ICAM-1) or vascular cell adhesion molecule-1 (VCAM-1). (PMID:25251368)
- study provides evidence that the BRINP3 polymorphic variant rs1342913 and low level of BRINP3 expression are associated with peri-implantitis, independently from the presence of chronic periodontitis. (PMID:25887438)
- FAM5C is a risk factor for cerebral infarction in type 2 diabetic patients. (PMID:26717922)
- Data show that all the six inflammation-related CpG-SNPs genotypes including IL1B rs16944, IL1R2 rs2071008, PLA2G7 rs9395208, FAM5C rs12732361, CD40 rs1800686, and CD36 rs2065666 were associated with coronary heart disease (CHD), suggesting an important role of inflammation in the risk of CHD. (PMID:27461004)
- the association of serum OGN and FAM5C levels and muscle mass with bone mineral density (BMD), bone turnover markers, and the presence of vertebral fractures (VFs) in 156 postmenopausal women with type 2 diabetes mellitus, is reported. (PMID:27836731)
- The results demonstrated that FAM5C is an N-glycosylated protein, and N-glycosylation by UGGT1 is necessary for the secretion of FAM5C. (PMID:28351617)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | brinp3a.2 | ENSDARG00000061051 |
| mus_musculus | Brinp3 | ENSMUSG00000035131 |
| rattus_norvegicus | Brinp3 | ENSRNOG00000002811 |
Paralogs (2): BRINP1 (ENSG00000078725), BRINP2 (ENSG00000198797)
Protein
Protein identifiers
BMP/retinoic acid-inducible neural-specific protein 3 — Q76B58 (reviewed: Q76B58)
Alternative names: DBCCR1-like protein 1
All UniProt accessions (3): A0A0J9YVN8, B1AMP1, Q76B58
UniProt curated annotations — full annotation on UniProt →
Function. Inhibits neuronal cell proliferation by negative regulation of the cell cycle transition. Promotes pituitary gonadotrope cell proliferation, migration and invasion, when overexpressed. May play a role in cell pituitary tumor development.
Subcellular location. Secreted. Mitochondrion.
Tissue specificity. Strongly expressed in oral keratinocytes compared to the weak expression in tongue squamous cell carcinoma (SCC). Expressed in endothelial and aortic smooth muscle cells. Overexpressed in gonadotropinomas compared to normal pituitarie tissues.
Similarity. Belongs to the BRINP family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q76B58-1 | 1 | yes |
| Q76B58-2 | 2 |
RefSeq proteins (2): NP_001304117, NP_950252* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009030 | Growth_fac_rcpt_cys_sf | Homologous_superfamily |
| IPR020864 | MACPF | Domain |
| IPR033237 | BRINP | Family |
| IPR057450 | BRINP_EGF | Domain |
| IPR057671 | BRINP_C | Domain |
Pfam: PF01823, PF19052, PF25415
UniProt features (13 total): glycosylation site 6, splice variant 2, sequence conflict 2, signal peptide 1, chain 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q76B58-F1 | 77.13 | 0.21 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (6): 168, 337, 456, 562, 609, 641
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 188 (showing top):
BENPORATH_ES_WITH_H3K27ME3, GOBP_BEHAVIOR, TGCGCANK_UNKNOWN, GOBP_CELLULAR_RESPONSE_TO_LIPID, TTTGTAG_MIR520D, GOBP_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION, MORF_BRCA1, GOBP_GROWTH, TATTATA_MIR374, GOBP_NEUROGENESIS, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, CAGCTG_AP4_Q5, MORF_RAD51L3, CTCTAGA_MIR526C_MIR518F_MIR526A, GOBP_CELLULAR_RESPONSE_TO_RETINOIC_ACID
GO Biological Process (10): central nervous system neuron differentiation (GO:0021953), social behavior (GO:0035176), multicellular organism growth (GO:0035264), exploration behavior (GO:0035640), positive regulation of neuron differentiation (GO:0045666), negative regulation of mitotic cell cycle (GO:0045930), cellular response to retinoic acid (GO:0071300), nervous system development (GO:0007399), negative regulation of cell cycle (GO:0045786), regulation of cell cycle (GO:0051726)
GO Molecular Function (0):
GO Cellular Component (5): extracellular region (GO:0005576), cytoplasm (GO:0005737), mitochondrion (GO:0005739), dendrite (GO:0030425), neuronal cell body (GO:0043025)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| neuron differentiation | 2 |
| behavior | 2 |
| cell cycle | 2 |
| cellular anatomical structure | 2 |
| central nervous system development | 1 |
| biological process involved in intraspecies interaction between organisms | 1 |
| multicellular organismal process | 1 |
| developmental growth | 1 |
| positive regulation of cell differentiation | 1 |
| regulation of neuron differentiation | 1 |
| mitotic cell cycle | 1 |
| regulation of mitotic cell cycle | 1 |
| negative regulation of cell cycle | 1 |
| response to retinoic acid | 1 |
| cellular response to lipid | 1 |
| cellular response to oxygen-containing compound | 1 |
| system development | 1 |
| negative regulation of cellular process | 1 |
| regulation of cell cycle | 1 |
| regulation of cellular process | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| neuron projection | 1 |
| dendritic tree | 1 |
| somatodendritic compartment | 1 |
| cell body | 1 |
Protein interactions and networks
STRING
1136 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| BRINP3 | SLIT3 | O75094 | 523 |
| BRINP3 | RRP15 | Q9Y3B9 | 438 |
| BRINP3 | KCTD3 | Q9Y597 | 429 |
| BRINP3 | GPATCH2 | Q9NW75 | 407 |
| BRINP3 | ASTN1 | O14525 | 405 |
| BRINP3 | ZNF684 | Q5T5D7 | 398 |
| BRINP3 | CCDC17 | Q96LX7 | 395 |
| BRINP3 | ANP32D | O95626 | 392 |
| BRINP3 | SLIT1 | O75093 | 390 |
| BRINP3 | OGN | P20774 | 370 |
| BRINP3 | ADGRL4 | Q9HBW9 | 367 |
| BRINP3 | OR5M11 | Q96RB7 | 361 |
| BRINP3 | TMEM236 | Q5W0B7 | 358 |
| BRINP3 | CCDC126 | Q96EE4 | 355 |
| BRINP3 | OR5AR1 | Q8NGP9 | 355 |
IntAct
9 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| STIM2 | PRKAB2 | psi-mi:“MI:0914”(association) | 0.640 |
| BRINP3 | BUB1 | psi-mi:“MI:0914”(association) | 0.530 |
| PDGFRA | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| PSCA | METTL15 | psi-mi:“MI:0914”(association) | 0.350 |
| SCGB2A2 | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| C1orf54 | AGRN | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (40): BRINP3 (Reconstituted Complex), BRINP3 (Affinity Capture-MS), BRINP2 (Affinity Capture-MS), DHFRL1 (Affinity Capture-MS), TXNDC15 (Affinity Capture-MS), BUB1 (Affinity Capture-MS), TUBA4A (Affinity Capture-MS), KIAA0232 (Affinity Capture-MS), TUBA1A (Affinity Capture-MS), CBWD1 (Affinity Capture-MS), NRP2 (Affinity Capture-MS), ATG2B (Affinity Capture-MS), EDEM2 (Affinity Capture-MS), DNAJB9 (Affinity Capture-MS), LRP5 (Affinity Capture-MS)
ESM2 similar proteins: A0A0A6YXX9, A0A1Z2R986, A2RTF1, C6KI89, E9Q355, F5HFJ7, O36400, P03425, P04853, P09258, P09728, P0DP43, P12554, P12556, P16772, P19758, P21526, P22229, P28907, P35740, P35771, Q04547, Q2TAV2, Q2YDM0, Q3TBN1, Q499E0, Q4R6B2, Q5BKX0, Q5E9L2, Q5RDR5, Q66000, Q66001, Q68FB2, Q6AY76, Q6DFY8, Q6ZRH7, Q76B58, Q77MP7, Q77NN4, Q783Y1
Diamond homologs: O60477, Q499E0, Q5E9L2, Q5RDR5, Q6DFY8, Q76B58, Q7ZZR3, Q8K1M7, Q8K1M8, Q920P3, Q925T8, Q9C0B6, Q90X85, A2VEC9, B3EWZ3, B3EWZ8, C5IAW9, D3YXG0, D3ZTD8, E9Q6D8, G5ECS8, O08721, O95450, P07357, P07358, P10643, P13671, P55314, P61134, P61135, P79331, P98136, P98137, P98167, Q13591, Q29RQ1, Q29RU4, Q5RAD0, Q62217, Q700K0
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
113 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 107 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3398 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:190160663:CTTA:C | donor_loss | 1.0000 |
| 1:190160665:TA:T | donor_loss | 1.0000 |
| 1:190160666:A:AT | donor_loss | 1.0000 |
| 1:190160667:C:CT | donor_loss | 1.0000 |
| 1:190160887:TCAT:T | acceptor_gain | 1.0000 |
| 1:190160888:CAT:C | acceptor_gain | 1.0000 |
| 1:190160888:CATC:C | acceptor_gain | 1.0000 |
| 1:190226076:TCTTA:T | donor_loss | 1.0000 |
| 1:190226077:CTTA:C | donor_loss | 1.0000 |
| 1:190226078:TTA:T | donor_loss | 1.0000 |
| 1:190226079:TAC:T | donor_loss | 1.0000 |
| 1:190226080:A:AC | donor_gain | 1.0000 |
| 1:190226080:A:AT | donor_loss | 1.0000 |
| 1:190226081:C:A | donor_loss | 1.0000 |
| 1:190226081:C:CT | donor_gain | 1.0000 |
| 1:190226081:CCTG:C | donor_gain | 1.0000 |
| 1:190226081:CCTGA:C | donor_gain | 1.0000 |
| 1:190226314:AAGCC:A | acceptor_gain | 1.0000 |
| 1:190226315:AGCC:A | acceptor_gain | 1.0000 |
| 1:190226316:GCC:G | acceptor_gain | 1.0000 |
| 1:190226317:CC:C | acceptor_gain | 1.0000 |
| 1:190226317:CCC:C | acceptor_gain | 1.0000 |
| 1:190226318:CCT:C | acceptor_gain | 1.0000 |
| 1:190226319:C:CC | acceptor_gain | 1.0000 |
| 1:190226319:C:T | acceptor_gain | 1.0000 |
| 1:190226319:CTT:C | acceptor_loss | 1.0000 |
| 1:190226320:T:C | acceptor_gain | 1.0000 |
| 1:190226320:T:TC | acceptor_gain | 1.0000 |
| 1:190226328:C:CT | acceptor_gain | 1.0000 |
| 1:190226329:A:T | acceptor_gain | 1.0000 |
AlphaMissense
5088 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:190098026:A:G | C765R | 1.000 |
| 1:190098141:G:C | C726W | 1.000 |
| 1:190098143:A:G | C726R | 1.000 |
| 1:190098211:A:G | L703P | 1.000 |
| 1:190098271:A:G | L683P | 1.000 |
| 1:190098310:C:T | G670D | 1.000 |
| 1:190098433:A:G | L629P | 1.000 |
| 1:190098451:T:A | E623V | 1.000 |
| 1:190098581:G:C | H580D | 1.000 |
| 1:190098582:G:C | S579R | 1.000 |
| 1:190098582:G:T | S579R | 1.000 |
| 1:190098584:T:G | S579R | 1.000 |
| 1:190098597:A:C | N574K | 1.000 |
| 1:190098597:A:T | N574K | 1.000 |
| 1:190098645:G:C | C558W | 1.000 |
| 1:190098647:A:G | C558R | 1.000 |
| 1:190098705:C:A | K538N | 1.000 |
| 1:190098705:C:G | K538N | 1.000 |
| 1:190098771:G:C | S516R | 1.000 |
| 1:190098771:G:T | S516R | 1.000 |
| 1:190098773:T:G | S516R | 1.000 |
| 1:190098898:C:G | C474S | 1.000 |
| 1:190098899:A:T | C474S | 1.000 |
| 1:190226248:G:C | C265W | 1.000 |
| 1:190226249:C:T | C265Y | 1.000 |
| 1:190226250:A:G | C265R | 1.000 |
| 1:190234445:G:C | C217W | 1.000 |
| 1:190234446:C:G | C217S | 1.000 |
| 1:190234446:C:T | C217Y | 1.000 |
| 1:190234447:A:G | C217R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000000976 (1:190148185 C>T), RS1000002036 (1:190422012 G>C), RS1000008107 (1:190244035 C>A), RS1000018133 (1:190187819 C>A,G), RS1000025429 (1:190304223 A>C), RS1000027406 (1:190406559 A>G), RS1000036656 (1:190181358 T>G), RS1000039607 (1:190268667 GACAA>G), RS1000040482 (1:190111037 G>T), RS1000043869 (1:190254909 G>T), RS1000054728 (1:190311678 AGTGT>A), RS1000055238 (1:190321885 T>G), RS1000063625 (1:190457939 T>C), RS1000067844 (1:190192647 C>G,T), RS1000084449 (1:190231107 A>G)
Disease associations
OMIM: gene MIM:618390 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
24 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000110_7 | Echocardiographic traits | 6.000000e-06 |
| GCST000635_21 | Response to statin therapy | 4.000000e-06 |
| GCST002337_78 | Amyotrophic lateral sclerosis (sporadic) | 8.000000e-06 |
| GCST002783_404 | Body mass index | 9.000000e-07 |
| GCST002783_530 | Body mass index | 1.000000e-06 |
| GCST002934_3 | Zinc levels | 8.000000e-07 |
| GCST002974_2 | Suicide ideation score in major depressive disorder | 1.000000e-06 |
| GCST003808_5 | Non-response to selective serotonin reuptake inhibitors and depression | 2.000000e-06 |
| GCST004571_12 | Iron status biomarkers (total iron binding capacity) | 4.000000e-07 |
| GCST004571_14 | Iron status biomarkers (total iron binding capacity) | 4.000000e-08 |
| GCST004572_24 | Iron status biomarkers (transferrin saturation) | 4.000000e-07 |
| GCST004572_26 | Iron status biomarkers (transferrin saturation) | 4.000000e-08 |
| GCST004904_109 | Body mass index | 3.000000e-13 |
| GCST004904_220 | Body mass index | 3.000000e-10 |
| GCST006041_33 | Major depressive disorder | 1.000000e-06 |
| GCST006617_1 | Uterine fibroid size (maximum volume) | 8.000000e-08 |
| GCST007324_153 | Adventurousness | 1.000000e-12 |
| GCST007325_273 | General risk tolerance (MTAG) | 1.000000e-13 |
| GCST007576_23 | Chronotype | 2.000000e-10 |
| GCST007576_311 | Chronotype | 6.000000e-10 |
| GCST008158_24 | Body mass index | 5.000000e-06 |
| GCST010988_264 | Adult body size | 6.000000e-15 |
| GCST012033_2 | Sleep (1/3-day periodicity) | 2.000000e-12 |
| GCST012034_2 | Sleep (1/2-day periodicity) | 1.000000e-08 |
EFO canonical traits (9, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004294 | left atrial function |
| EFO:0004298 | cardiovascular measurement |
| EFO:0004340 | body mass index |
| EFO:0007619 | suicide ideation measurement |
| EFO:0005658 | response to selective serotonin reuptake inhibitor |
| EFO:0006334 | total iron binding capacity |
| EFO:0009410 | uterine fibroid measurement |
| EFO:0008579 | risk-taking behaviour |
| EFO:0008328 | chronotype measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
22 total (human), top 22 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression | 2 |
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| bisphenol F | increases expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| hydroxyhydroquinone | decreases expression | 1 |
| arsenite | increases methylation | 1 |
| sulforaphane | decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| Venlafaxine Hydrochloride | increases expression | 1 |
| Resveratrol | decreases expression, affects cotreatment | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | decreases expression | 1 |
| Methapyrilene | decreases methylation | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Rotenone | decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Okadaic Acid | decreases 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): mood disorder