ROMO1
gene geneOn this page
Also known as bA353C18.2MTGMP
Summary
ROMO1 (reactive oxygen species modulator 1, HGNC:16185) is a protein-coding gene on chromosome 20q11.22, encoding Reactive oxygen species modulator 1 (P60602). Induces production of reactive oxygen species (ROS) which are necessary for cell proliferation. It is a common-essential gene (DepMap: required in 94.3% of cancer cell lines).
The protein encoded by this gene is a mitochondrial membrane protein that is responsible for increasing the level of reactive oxygen species (ROS) in cells. The protein also has antimicrobial activity against a variety of bacteria by inducing bacterial membrane breakage.
Source: NCBI Gene 140823 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 14 total
- Cancer dependency (DepMap): dependent in 94.3% of screened cell lines (common-essential)
- MANE Select transcript:
NM_080748
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16185 |
| Approved symbol | ROMO1 |
| Name | reactive oxygen species modulator 1 |
| Location | 20q11.22 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | bA353C18.2, MTGMP |
| Ensembl gene | ENSG00000125995 |
| Ensembl biotype | protein_coding |
| OMIM | 618894 |
| Entrez | 140823 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 10 protein_coding
ENST00000336695, ENST00000374072, ENST00000374077, ENST00000374078, ENST00000397416, ENST00000938750, ENST00000938751, ENST00000938752, ENST00000938753, ENST00000938754
RefSeq mRNA: 1 — MANE Select: NM_080748
NM_080748
CCDS: CCDS13264
Canonical transcript exons
ENST00000374077 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001462380 | 35699405 | 35699456 |
| ENSE00001528622 | 35700798 | 35700980 |
| ENSE00001598007 | 35699633 | 35699763 |
Expression profiles
Bgee: expression breadth ubiquitous, 254 present calls, max score 99.10.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 110.1531 / max 846.1969, expressed in 1827 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 184318 | 106.7811 | 1827 |
| 184319 | 2.4818 | 1351 |
| 184317 | 0.8901 | 609 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| apex of heart | UBERON:0002098 | 99.10 | gold quality |
| upper arm skin | UBERON:0004263 | 99.06 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 99.00 | gold quality |
| adenohypophysis | UBERON:0002196 | 98.93 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 98.86 | gold quality |
| pituitary gland | UBERON:0000007 | 98.60 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 98.58 | gold quality |
| left adrenal gland | UBERON:0001234 | 98.56 | gold quality |
| right adrenal gland | UBERON:0001233 | 98.54 | gold quality |
| right atrium auricular region | UBERON:0006631 | 98.49 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 98.45 | gold quality |
| left coronary artery | UBERON:0001626 | 98.44 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 98.43 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 98.42 | gold quality |
| ascending aorta | UBERON:0001496 | 98.39 | gold quality |
| adrenal cortex | UBERON:0001235 | 98.36 | gold quality |
| thoracic aorta | UBERON:0001515 | 98.36 | gold quality |
| mucosa of stomach | UBERON:0001199 | 98.34 | gold quality |
| metanephros cortex | UBERON:0010533 | 98.25 | gold quality |
| coronary artery | UBERON:0001621 | 98.23 | gold quality |
| right testis | UBERON:0004534 | 98.22 | gold quality |
| gastrocnemius | UBERON:0001388 | 98.20 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 98.19 | gold quality |
| endocervix | UBERON:0000458 | 98.18 | gold quality |
| cardiac atrium | UBERON:0002081 | 98.18 | gold quality |
| muscle of leg | UBERON:0001383 | 98.17 | gold quality |
| left testis | UBERON:0004533 | 98.16 | gold quality |
| lower esophagus | UBERON:0013473 | 98.16 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 98.16 | gold quality |
| aorta | UBERON:0000947 | 98.14 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 19.20 |
| E-CURD-122 | yes | 13.13 |
| E-HCAD-13 | yes | 12.03 |
| E-MTAB-10042 | yes | 11.15 |
| E-MTAB-10596 | no | 867.86 |
Regulation
Is transcription factor: no
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 94.3% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 40)
- cellular adaptive response to Romo1-induced ROS is a mechanism of drug resistance to 5-FU (PMID:17537404)
- The results of this study suggest that Romo1-induced ROS may play an important role in redox signaling in cancer cells. (PMID:18313394)
- age-related ROS levels increase, and this contributes to replicative senescence, which is directly associated with Romo1 expression. (PMID:18836179)
- Mitochondrial ROS generated by Romo1 expression are required for normal cell proliferation. Romo1 plays an important role in redox signalling during normal cell proliferation. (PMID:19513905)
- Results suggest that MTGM is an integral mitochondrial inner-membrane protein that coordinately regulates mitochondrial morphology and cell proliferation. (PMID:19535734)
- Romo1-derived reactive oxygen species play an important role in apoptotic cell death triggered by withdrawal of cell survival factors. (PMID:19904609)
- Romo1 and Bcl-X(L)) are directly associated with TNF-alpha-induced ROS production. Romo1 is a molecular bridge between TNF-alpha signaling and the mitochondria for ROS production that triggers TNF-alpha-mediated apoptosis. (PMID:20203691)
- increased Bcl-XL expression, which is observed in many cancer cells, confers resistance to oxidative stress in the cancer cells by suppressing Romo1-mediated oxidative stress. (PMID:21399876)
- Romo1 expression induced by Myc during G1 phase stimulates Skp2-mediated Myc degradation in a negative-feedback mechanism (PMID:21558421)
- A 19 amino acid peptide (pCM19) at positions 42-60 of hGlyrichin is crucial for its antibacterial activity. (PMID:22083756)
- Romo1 mediates mitochondrial reactive oxygen species production and apoptosis induced by oxidative stress in lung epithelial cells. (PMID:23867822)
- This study is the first to demonstrate that strict modulation of DKK1 expression in different cell types partially maintains cell survival via tight regulation of the ROS-producing ROMO1 and radiation resistance. (PMID:24269823)
- that ROS modulator protein 1 (ROMO1) links ROS and mitochondrial morphology and ultrastructure by modulating cristae remodeling and mitochondrial fusion (PMID:24473193)
- data identify ROMO1 as a critical molecular switch that couples metabolic stress and mitochondrial morphology, linking mitochondrial fusion to cell survival. (PMID:24473195)
- Serum Romo1 discriminated NSCLC patients from the population without cancer with considerable sensitivity and specificity. Serum Romo1 could be a potential diagnostic biomarker for NSCLC. (PMID:24951318)
- Romo1 may be a principal regulatory factor in the maintenance of constitutive NF-kappaB activation in tumor cells (PMID:25044121)
- Results demonstrate that expression of Romo1 is frequently upregulated in human glioblastomas and its elevation promotes malignant tumor progression by promoting cell cycle progression and by enhancing tumorigenicity (PMID:25193023)
- Genetic polymorphisms of Romo1 gene were associated with significant risk of gastric cancer. (PMID:25374412)
- Increased Romo1 expression in surgically resected NSCLC was found to be significantly associated with early recurrence and poor survival. Romo1 overexpression could be a potential adverse prognostic marker in this setting. (PMID:25468147)
- These results demonstrate that tumor cell invasion in response to oxidative stress is associated with Romo1 expression and the NF-kappaB signaling pathway. (PMID:25673177)
- High ROMO1 expression is associated with Fanconi anemia. (PMID:25687884)
- The rs6060566 polymorphism of the Romo-1 gene was found to be an independent risk factor for DR in Caucasians with T2DM. (PMID:25824963)
- Romo1 overexpression was associated with poor response to treatment and shorter survival in advanced NSCLC patients treated with platinum-based chemotherapy. Romo1 could be a potential adverse predictive marker in this setting. (PMID:27188201)
- elevated in pleural effusion when lung cancer present (PMID:28121949)
- the diagnostic sensitivity and specificity of serum reactive oxygen species modulator 1 were only 41.38% and 86.21%, respectively, with the cutoff value of 27.22 ng/mL. The sensitivity and specificity of pleural fluid carcinoembryonic antigen were 69.23% and 88.00%, respectively, at the cutoff value of 3.05 ng/mL, while serum carcinoembryonic antigen were 80.77% and 72.00% at the cutoff value of 2.60 ng/mL. (PMID:28459208)
- Increased Romo1 expression was found to be associated with high lymph node ratio. Cancer invasiveness appeared to be a key reason for the poor survival related to highly expressed Romo1 (PMID:28472059)
- the increase of serum Romo1 in obstructive sleep apnea syndrome (OSAS) patients was positively correlated with disease severity; serum Romo1 may be an important parameter for monitoring the severity of OSAS and treatment efficiency (PMID:29302924)
- Romo1 establishes a new category of viroporin-like nonselective cation channel in eukaryotes. (PMID:29545371)
- in the absence of ROMO1, mitochondria lose the inner membrane YME1L protease, which participates in OPA1 processing and ROMO1 turnover. While ROMO1 is dispensable for general protein import along the presequence pathway, we show that it participates in the dynamics of TIM21 during respiratory chain biogenesis and is specifically required for import of YME1L. (PMID:30598479)
- These results showed that mitochondrial reactiveo xygen species (mtROS) production was also enhanced by the SRA dependent ERK activation through upregulation and activation of reactive oxygen species modulator 1(ROMO1), a mitochondrial membrane protein and a key mediator of mtROS. (PMID:30850160)
- serum Romo1 levels increase in COPD patients and these levels are associated with lung function, inflammation, and oxidative stress in COPD. (PMID:31049771)
- Long noncoding RNA LINC00319 regulates ROMO1 expression and promotes bladder cancer progression via miR-4492/ROMO1 axis. (PMID:31608995)
- Clinical value of combined detection of reactive oxygen species modulator 1 and adenosine deaminase in pleural effusion in the identification of NSCLC associated malignant pleural effusion. (PMID:31709646)
- Overexpression of ROMO1 and OMA1 are Potentially Biomarkers and Predict Unfavorable Prognosis in Gastric Cancer. (PMID:31729644)
- Overexpression of reactive oxygen species modulator 1 is associated with advanced grades of bladder cancer. (PMID:32770525)
- Reactive oxygen species modulator 1 expression predicts lymph node metastasis and survival in early-stage non-small cell lung cancer. (PMID:33259495)
- The C allele of the reactive oxygen species modulator 1 (ROMO1) polymorphism rs6060566 is a biomarker predicting coronary artery stenosis in Slovenian subjects with type 2 diabetes mellitus. (PMID:33302957)
- Network models of prostate cancer immune microenvironments identify ROMO1 as heterogeneity and prognostic marker. (PMID:34996995)
- Targeting PKLR/MYCN/ROMO1 signaling suppresses neuroendocrine differentiation of castration-resistant prostate cancer. (PMID:36963289)
- The effects of ROMO1 on cervical cancer progression. (PMID:37285738)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | romo1 | ENSDARG00000038076 |
| mus_musculus | Romo1 | ENSMUSG00000067847 |
| rattus_norvegicus | Romo1 | ENSRNOG00000045555 |
Protein
Protein identifiers
Reactive oxygen species modulator 1 — P60602 (reviewed: P60602)
Alternative names: Epididymis tissue protein Li 175, Glyrichin, Mitochondrial targeting GxxxG motif protein, Protein MGR2 homolog
All UniProt accessions (1): P60602
UniProt curated annotations — full annotation on UniProt →
Function. Induces production of reactive oxygen species (ROS) which are necessary for cell proliferation. May play a role in inducing oxidative DNA damage and replicative senescence. May play a role in the coordination of mitochondrial morphology and cell proliferation. Has antibacterial activity against a variety of bacteria including S.aureus, P.aeruginosa and M.tuberculosis. Acts by inducing bacterial membrane breakage.
Subcellular location. Mitochondrion inner membrane.
Tissue specificity. Up-regulated in a number of cancer cell lines when compared to a normal lung fibroblast cell line. Highly expressed in brain tumors.
Induction. By the anticancer drug fluorouracil (5FU).
Miscellaneous. Enforced expression in IMR-90 cells leads to increased levels of ROS and induces premature cell senescence and nuclear DNA damage.
Similarity. Belongs to the MGR2 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P60602-1 | 1 | yes |
| P60602-2 | 2 |
RefSeq proteins (1): NP_542786* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR018450 | Romo1/Mgr2 | Family |
Pfam: PF10247
UniProt features (6 total): initiator methionine 1, chain 1, transmembrane region 1, region of interest 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P60602-F1 | 78.43 | 0.20 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 145 (showing top):
GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, NIKOLSKY_BREAST_CANCER_20Q11_AMPLICON, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_INNER_MITOCHONDRIAL_MEMBRANE_ORGANIZATION, GOBP_REGULATION_OF_REACTIVE_OXYGEN_SPECIES_METABOLIC_PROCESS, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_POSITIVE_REGULATION_OF_REACTIVE_OXYGEN_SPECIES_METABOLIC_PROCESS, GOCC_MITOCHONDRIAL_ENVELOPE
GO Biological Process (13): intracellular protein transport (GO:0006886), protein import into mitochondrial matrix (GO:0030150), killing of cells of another organism (GO:0031640), cellular response to reactive oxygen species (GO:0034614), defense response to bacterium (GO:0042742), protein insertion into mitochondrial inner membrane (GO:0045039), defense response to Gram-negative bacterium (GO:0050829), defense response to Gram-positive bacterium (GO:0050830), obsolete cytolysis by host of symbiont cells (GO:0051838), antimicrobial humoral immune response mediated by antimicrobial peptide (GO:0061844), replicative senescence (GO:0090399), monoatomic cation transmembrane transport (GO:0098655), positive regulation of reactive oxygen species metabolic process (GO:2000379)
GO Molecular Function (2): monoatomic cation transmembrane transporter activity (GO:0008324), protein binding (GO:0005515)
GO Cellular Component (4): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), TIM23 mitochondrial import inner membrane translocase complex (GO:0005744), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| mitochondrial protein import pathway | 2 |
| defense response to bacterium | 2 |
| intracellular protein localization | 1 |
| protein transport | 1 |
| intracellular transport | 1 |
| protein transmembrane import into intracellular organelle | 1 |
| protein localization to mitochondrion | 1 |
| import into the mitochondrion | 1 |
| cell killing | 1 |
| disruption of cell in another organism | 1 |
| response to reactive oxygen species | 1 |
| cellular response to oxidative stress | 1 |
| cellular response to oxygen-containing compound | 1 |
| defense response | 1 |
| response to bacterium | 1 |
| inner mitochondrial membrane organization | 1 |
| antimicrobial humoral response | 1 |
| cell cycle process | 1 |
| monoatomic cation transport | 1 |
| monoatomic ion transmembrane transport | 1 |
| positive regulation of metabolic process | 1 |
| reactive oxygen species metabolic process | 1 |
| regulation of reactive oxygen species metabolic process | 1 |
| monoatomic ion transmembrane transporter activity | 1 |
| monoatomic cation transmembrane transport | 1 |
| binding | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| inner mitochondrial membrane protein complex | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1684 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ROMO1 | TIMM21 | Q9BVV7 | 798 |
| ROMO1 | TIMM17A | Q99595 | 781 |
| ROMO1 | TIMM50 | Q3ZCQ8 | 609 |
| ROMO1 | PAM16 | Q9Y3D7 | 580 |
| ROMO1 | TIMM17B | O60830 | 563 |
| ROMO1 | TIMM44 | O43615 | 560 |
| ROMO1 | DNAJC19 | Q96DA6 | 553 |
| ROMO1 | BCL2L1 | Q07817 | 538 |
| ROMO1 | TOMM22 | Q9NS69 | 532 |
| ROMO1 | COX7C | P15954 | 532 |
| ROMO1 | COX6B1 | P14854 | 524 |
| ROMO1 | COXFA4 | O00483 | 523 |
| ROMO1 | NDUFB8 | O95169 | 513 |
| ROMO1 | COX6C | P09669 | 511 |
| ROMO1 | NDUFB9 | Q9Y6M9 | 508 |
IntAct
19 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ROMO1 | RHBDD2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ROMO1 | CIDEB | psi-mi:“MI:0915”(physical association) | 0.560 |
| ROMO1 | ERAP1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ROMO1 | E2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| COQ9 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.350 |
| COQ9 | ACOT7 | psi-mi:“MI:0914”(association) | 0.350 |
| NDUFA4 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC35G1 | FAM234B | psi-mi:“MI:0914”(association) | 0.350 |
| SLC35G2 | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
| SLC6A11 | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| SLC7A14 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| TIMM17A | ROMO1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ELOVL5 | ROMO1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ROMO1 | RHBDD2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ROMO1 | CIDEB | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (37): ROMO1 (Affinity Capture-MS), ROMO1 (Affinity Capture-MS), ROMO1 (Affinity Capture-MS), ERAP1 (Affinity Capture-MS), ROMO1 (Affinity Capture-MS), ROMO1 (Affinity Capture-MS), ROMO1 (Negative Genetic), ROMO1 (Positive Genetic), ROMO1 (Negative Genetic), ROMO1 (Positive Genetic), ROMO1 (Negative Genetic), ROMO1 (Negative Genetic), ROMO1 (Negative Genetic), ROMO1 (Negative Genetic), ROMO1 (Negative Genetic)
ESM2 similar proteins: A0A1D8PI78, A1XJK0, A1XQR6, A2RVP7, A4QNF3, O44477, O48528, P0CR88, P0CR89, P25710, P32897, P60602, P60603, P79082, P81928, P87130, P87146, Q02889, Q0MQB8, Q0MQB9, Q0MQC0, Q12328, Q2UAP8, Q38820, Q3SZV8, Q4V7T9, Q54QM0, Q5NVQ1, Q6BT35, Q6BZY4, Q6CRJ6, Q6FT37, Q6NYD1, Q75E80, Q7T2P6, Q80W89, Q86Y39, Q8HXG6, Q8IN78, Q9C1E8
Diamond homologs: A1XQR6, A4QNF3, P60602, P60603, P79082, Q02889, Q3SZV8, Q4V7T9, Q6NYD1, Q54M86
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ROMO1 | “form complex” | “TIM23 complex” | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
14 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 10 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
413 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:35699427:C:G | donor_gain | 0.9900 |
| 20:35699448:CGAGG:C | donor_loss | 0.9900 |
| 20:35699449:GAGGT:G | donor_loss | 0.9900 |
| 20:35699450:AGGTG:A | donor_loss | 0.9900 |
| 20:35699451:GGTGA:G | donor_loss | 0.9900 |
| 20:35699452:GT:G | donor_loss | 0.9900 |
| 20:35699452:GTGAG:G | donor_gain | 0.9900 |
| 20:35699453:T:A | donor_loss | 0.9900 |
| 20:35699627:CCGCA:C | acceptor_loss | 0.9900 |
| 20:35699628:CGCAG:C | acceptor_loss | 0.9900 |
| 20:35699629:GCA:G | acceptor_loss | 0.9900 |
| 20:35699630:CA:C | acceptor_loss | 0.9900 |
| 20:35699631:A:AG | acceptor_gain | 0.9900 |
| 20:35699631:AGATG:A | acceptor_loss | 0.9900 |
| 20:35699632:G:C | acceptor_loss | 0.9900 |
| 20:35699632:G:GG | acceptor_gain | 0.9900 |
| 20:35699632:GAT:G | acceptor_gain | 0.9900 |
| 20:35699759:CTCAG:C | donor_loss | 0.9900 |
| 20:35699760:TCAG:T | donor_loss | 0.9900 |
| 20:35699763:GGTGA:G | donor_loss | 0.9900 |
| 20:35699764:GT:G | donor_loss | 0.9900 |
| 20:35699765:T:A | donor_loss | 0.9900 |
| 20:35700549:A:AG | acceptor_gain | 0.9900 |
| 20:35700549:ACT:A | acceptor_gain | 0.9900 |
| 20:35699447:GCGAG:G | donor_gain | 0.9800 |
| 20:35699454:GAGG:G | donor_loss | 0.9800 |
| 20:35699455:AGGTA:A | donor_loss | 0.9800 |
| 20:35699456:GGTAG:G | donor_loss | 0.9800 |
| 20:35699457:G:C | donor_loss | 0.9800 |
| 20:35699458:T:A | donor_loss | 0.9800 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1001969293 (20:35700133 T>C), RS1002621101 (20:35699436 C>A,G,T), RS1002673199 (20:35699272 G>T), RS1003686803 (20:35700597 A>G), RS1003896019 (20:35698794 G>A,C), RS1005157608 (20:35700030 A>C), RS1005305644 (20:35700253 T>C), RS1006703192 (20:35699452 G>A,T), RS1006820376 (20:35699297 T>A,C), RS1008111787 (20:35698259 A>G), RS1008374206 (20:35700717 A>C,G,T), RS1008490199 (20:35700408 T>G), RS1008840364 (20:35701376 T>C,G), RS1010107516 (20:35699208 C>T), RS1011787705 (20:35700389 T>C)
Disease associations
OMIM: gene MIM:618894 | 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 |
|---|---|---|
| GCST010002_66 | Refractive error | 2.000000e-20 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, decreases expression | 2 |
| sodium arsenite | affects expression, increases abundance, increases expression | 2 |
| Dexamethasone | increases expression, affects cotreatment | 2 |
| aristolochic acid I | decreases expression | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| lead acetate | increases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| 4-aminophenylarsenoxide | affects binding, decreases reaction | 1 |
| chloropicrin | affects expression | 1 |
| K 7174 | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic Trioxide | decreases reaction, affects binding | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Chlorpyrifos | increases expression | 1 |
| Hydralazine | affects cotreatment, increases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Potassium Dichromate | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Valproic Acid | increases expression, affects cotreatment | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Cadmium Chloride | increases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Lactic Acid | decreases 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.