RLN1
gene geneOn this page
Also known as H1
Summary
RLN1 (relaxin 1, HGNC:10026) is a protein-coding gene on chromosome 9p24.1, encoding Prorelaxin H1 (P04808). Relaxin is an ovarian hormone that acts with estrogen to produce dilatation of the birth canal in many mammals.
Relaxins are known endocrine and autocrine/paracrine hormones, belonging to the insulin gene superfamily. In humans there are three non-allelic relaxin genes, RLN1, RLN2 and RLN3, where RLN1 and RLN2 share high sequence homology. The protein encoded by this gene is synthesized as a single-chain polypeptide but the active form consists of an A chain and a B chain linked by disulfide bonds. Relaxin is produced by the ovary, and targets the mammalian reproductive system to ripen the cervix, elongate the pubic symphysis and inhibit uterine contraction. It may have additional roles in enhancing sperm motility, regulating blood pressure, controlling heart rate and releasing oxytocin and vasopressin.
Source: NCBI Gene 6013 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 53 total
- MANE Select transcript:
NM_006911
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10026 |
| Approved symbol | RLN1 |
| Name | relaxin 1 |
| Location | 9p24.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | H1 |
| Ensembl gene | ENSG00000107018 |
| Ensembl biotype | protein_coding |
| OMIM | 179730 |
| Entrez | 6013 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000223862, ENST00000487557
RefSeq mRNA: 1 — MANE Select: NM_006911
NM_006911
CCDS: CCDS6462
Canonical transcript exons
ENST00000223862 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001368648 | 5339536 | 5339876 |
| ENSE00003613370 | 5334930 | 5335597 |
Expression profiles
Bgee: expression breadth ubiquitous, 132 present calls, max score 88.12.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0099 / max 3.5370, expressed in 2 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 99816 | 0.0099 | 2 |
Top tissues by expression
273 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 88.12 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.20 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.62 | gold quality |
| secondary oocyte | CL:0000655 | 79.76 | gold quality |
| prostate gland | UBERON:0002367 | 68.34 | gold quality |
| islet of Langerhans | UBERON:0000006 | 62.24 | gold quality |
| granulocyte | CL:0000094 | 60.13 | gold quality |
| buccal mucosa cell | CL:0002336 | 56.91 | silver quality |
| adenohypophysis | UBERON:0002196 | 56.51 | gold quality |
| pituitary gland | UBERON:0000007 | 55.29 | gold quality |
| lymph node | UBERON:0000029 | 54.85 | gold quality |
| tibialis anterior | UBERON:0001385 | 54.26 | silver quality |
| right uterine tube | UBERON:0001302 | 53.68 | gold quality |
| skin of hip | UBERON:0001554 | 53.08 | silver quality |
| vermiform appendix | UBERON:0001154 | 52.70 | gold quality |
| deltoid | UBERON:0001476 | 51.28 | silver quality |
| pancreatic ductal cell | CL:0002079 | 51.14 | silver quality |
| caecum | UBERON:0001153 | 51.05 | gold quality |
| quadriceps femoris | UBERON:0001377 | 50.42 | gold quality |
| frontal pole | UBERON:0002795 | 50.41 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 50.30 | gold quality |
| ventricular zone | UBERON:0003053 | 50.22 | gold quality |
| paraflocculus | UBERON:0005351 | 50.18 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 50.18 | gold quality |
| thymus | UBERON:0002370 | 49.92 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 49.66 | gold quality |
| vastus lateralis | UBERON:0001379 | 49.45 | gold quality |
| oviduct epithelium | UBERON:0004804 | 49.43 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 49.30 | gold quality |
| blood vessel layer | UBERON:0004797 | 49.29 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.21 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NR3C1, PGR
miRNA regulators (miRDB)
31 targeting RLN1, 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-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-329-3P | 99.91 | 66.56 | 1234 |
| HSA-MIR-362-3P | 99.91 | 66.38 | 1267 |
| HSA-MIR-3941 | 99.86 | 70.54 | 2735 |
| HSA-MIR-576-5P | 99.84 | 70.46 | 2582 |
| HSA-MIR-7157-5P | 99.66 | 69.33 | 1829 |
| HSA-MIR-452-5P | 99.65 | 69.63 | 1762 |
| HSA-MIR-4676-3P | 99.65 | 69.31 | 1733 |
| HSA-MIR-892C-3P | 99.65 | 69.38 | 1745 |
| HSA-MIR-4310 | 99.59 | 68.84 | 2527 |
| HSA-MIR-4276 | 99.56 | 67.66 | 2514 |
| HSA-MIR-154-3P | 99.50 | 70.05 | 831 |
| HSA-MIR-487A-3P | 99.50 | 69.95 | 840 |
| HSA-MIR-329-5P | 99.27 | 68.11 | 1597 |
| HSA-MIR-4291 | 99.20 | 68.88 | 2969 |
| HSA-MIR-3688-5P | 99.12 | 69.67 | 1091 |
| HSA-MIR-4796-3P | 99.08 | 68.38 | 1681 |
| HSA-MIR-4711-5P | 98.89 | 68.00 | 965 |
| HSA-MIR-603 | 98.58 | 68.28 | 1603 |
| HSA-MIR-6818-5P | 97.50 | 67.10 | 1167 |
| HSA-MIR-4727-3P | 96.75 | 64.97 | 415 |
| HSA-MIR-10525-3P | 96.32 | 68.04 | 699 |
| HSA-MIR-576-3P | 96.14 | 65.63 | 773 |
Literature-anchored findings (GeneRIF, showing 39)
- demonstrated that prorelaxin has the ability to facilitate cell migration processes exclusive of its ability to stimulate cell proliferation (PMID:12865351)
- Data describe the conformation of the relaxin-binding site of the leucine-rich G-protein-coupled receptor 7. (PMID:15695505)
- results suggest that relaxin may contribute to follicle development through the mechanism of angiogenesis in the ovary (PMID:15956699)
- rhRLX increases cardiac output and reduces arterial load irrespective of gender (PMID:15956701)
- In naturally occurring cycles, increased serum relaxin is associated with augmented renal hemodynamics (PMID:15956702)
- roles of the relaxin system in three potential causes of preterm birth are discussed (PMID:15956731)
- human relaxin may accelerate the early stages of orthodontic tooth movement in rats (PMID:15956736)
- relaxin-like hormones appear to be present early during C-cell hyperplasia and potentially functional relaxin/INSL3 ligand-receptor systems are present in human medullary thyroid carcinoma tissues and cell lines (PMID:15956746)
- rhRLX increases cardiac output and reduces arterial load in hypertensive rats without reducing blood pressure. Time of response is dependent on model of hypertension. Rats with angiotensin II hypertension responded more rapidly to rhRLX than SHR. (PMID:16172427)
- Relaxin stimulates leukocyte adhesion and migration through a relaxin receptor LGR7-dependent mechanism (PMID:16303766)
- Relaxin signaling plays a role in prostate cancer progression. (PMID:17363522)
- Relaxin signalling in THP-1 cells uses a novel phosphotyrosine-dependent pathway. (PMID:17509748)
- Relaxin 1 is a candidate gene controlling lung function development in mice. (PMID:17804602)
- Relaxin was positively related to insulin sensitivity and negatively to beta-cell function. Logistic regression analysis revealed that the correlation between relaxin and HOMA2 remained significant after adjustment for age, BMI. (PMID:18035445)
- long-term exposure to relaxin confers growth inhibitory and anti-invasive properties in oestrogen-independent tumours in vivo, which may in part be mediated through a down-regulation of S100A4 (PMID:18718015)
- RXFP1-inactive relaxin activates human glucocorticoid receptor. (PMID:19101597)
- The hydrogen-bond network and electrostatic interactions between charged groups in INSL5 by NMR-monitored temperature and pH titrations was characterized. (PMID:19178384)
- The antitumor effect of Rlx was mediated through degradation of tumor stroma, which provided increased access of infiltrating antitumor immune cells to their target tumor cells. (PMID:19329780)
- decidual RLN expression is independent of lipopolysaccharide but may induce a local sterile inflammatory process which potentially contributes to extracellular matrix degradation and weakening of the fetal membranes (PMID:19467703)
- There were no correlation between relaxin concentrations and the cervical length, indicating that relaxin is probably not the cause of preterm shortening of the cervix (PMID:19481729)
- Women with a history of recurrent pregnancy loss demonstrate attenuated levels of serum relaxin across all pregnancy trimesters. (PMID:19695764)
- Relaxin is a potent stimulator of osteoclastogenesis from hematopoietic precursors and regulates the activity of mature osteoclasts. (PMID:19833242)
- In conclusion, we have identified S100A4 as a major mediator of the actions of relaxin in thyroid carcinoma cell motility and in vivo thyroid tumor angiogenesis. (PMID:20332215)
- Endometrial expression of relaxin and its receptor in endometriosis. (PMID:20655530)
- heterozygous loss at the RLN1 locus is not a genetic factor mediating high population-wide risk for testicular germ cell tumour, but do not exclude a contribution of this aberration in some cases of cancer (PMID:21696394)
- [review] This study not only clarifies the role of relaxin in sperm, but could also open avenues of research into its use in fertility treatment. (PMID:22180889)
- relaxin may promote the proliferation, invasion and metastasis of osteosarcoma cells by regulating the expression of MMP-9 and facilitating ECM degradation. (PMID:23661525)
- Notch signaling can down-regulate TGF-beta1/Smad3-induced fibroblast-myofibroblast transition and that RLX could exert its well known anti-fibrotic action through the up-regulation of this pathway. (PMID:23704950)
- Recombinant human relaxin (RLX) may provide a novel therapy to manage atrial fibrillation in humans by reversing fibrosis and hypertrophy and by modulating cardiac ionic currents. (PMID:23748429)
- Relaxin actions in pregnancy include increasing cervical pro-MMP-1 and pro-MMP-3 and decreasing TIMP-1, changes which soften the cervix. (PMID:24640561)
- For the first time, we bring together the systemic (ovarian) and autocrine/paracrine (intrauterine) sources of RLN, in an attempt to understand how RLN contributes to premature birth in women. (PMID:24640563)
- Rln enhanced synergistically BMP-2-induced osteoblast differentiation and bone formation. (PMID:24643989)
- Although serum relaxin level is not a causative factor for benign hypermobility syndrome, the significant increases in patients with hyperkyphosis and pes planus suggest the hypothesis that relaxin has a limited and indefinite role in patients with BJHS. (PMID:25322737)
- Serum concentrations of relaxin showed a positive association to duration of gestation among women with miscarriage but no association to duration of gestation among women with spontaneous onset of labour. (PMID:26272327)
- a novel fusion transcript comprising the RLN1 and RLN2 genes, was identified. (PMID:26499396)
- In a population of acute HF patients, admission relaxin serum levels were associated with clinical and echocardiographic markers of pulmonary hypertension, RV dysfunction, and overload, suggesting a role for circulating relaxin as a biomarker in this setting. (PMID:27488261)
- down-regulated in cord blood by prenatal smoking (PMID:28130959)
- The digestive tract has been shown to express relaxin receptors; the hormone appears to exert site-specific effects acting at the neural or at the smooth muscle level, mainly by a nitric oxide-mediated mechanism. (Review) (PMID:28606038)
- Results indicate that serum relaxin may be a clinically useful indicator for diagnostic and prognostic evaluation in epithelial ovarian cancer (EOC) patients. (PMID:29060928)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Rln1 | ENSMUSG00000039097 |
| rattus_norvegicus | Rln1 | ENSRNOG00000060867 |
Paralogs (3): RLN2 (ENSG00000107014), INSL6 (ENSG00000120210), INSL4 (ENSG00000120211)
Protein
Protein identifiers
Prorelaxin H1 — P04808 (reviewed: P04808)
All UniProt accessions (1): P04808
UniProt curated annotations — full annotation on UniProt →
Function. Relaxin is an ovarian hormone that acts with estrogen to produce dilatation of the birth canal in many mammals. May be involved in remodeling of connective tissues during pregnancy, promoting growth of pubic ligaments and ripening of the cervix.
Subunit / interactions. Heterodimer of a B chain and an A chain linked by two disulfide bonds.
Subcellular location. Secreted.
Tissue specificity. Prostate. Not expressed in placenta, decidua or ovary.
Similarity. Belongs to the insulin family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P04808-1 | 1 | yes |
| P04808-2 | 2 |
RefSeq proteins (1): NP_008842* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR016179 | Insulin-like | Domain |
| IPR022352 | Ins/IGF/rlx | Family |
| IPR022353 | Insulin_CS | Conserved_site |
| IPR022421 | Relaxin | Family |
| IPR036438 | Insulin-like_sf | Homologous_superfamily |
| IPR051042 | Repro_Hormone_Insulin-like | Family |
Pfam: PF00049
UniProt features (10 total): disulfide bond 3, peptide 2, splice variant 2, signal peptide 1, propeptide 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P04808-F1 | 61.56 | 0.22 |
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 (3): 35–172, 47–185, 171–176
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-3371453 | Regulation of HSF1-mediated heat shock response |
| R-HSA-3371511 | HSF1 activation |
| R-HSA-3371568 | Attenuation phase |
| R-HSA-3371571 | HSF1-dependent transactivation |
MSigDB gene sets: 80 (showing top):
CCAWYNNGAAR_UNKNOWN, GGGTGGRR_PAX4_03, CHANDRAN_METASTASIS_DN, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_MULTI_MULTICELLULAR_ORGANISM_PROCESS, GOMF_SIGNALING_RECEPTOR_BINDING, DANG_BOUND_BY_MYC, BENPORATH_MYC_MAX_TARGETS, GOMF_HORMONE_ACTIVITY, GOMF_SIGNALING_RECEPTOR_REGULATOR_ACTIVITY, NFY_Q6_01, MANALO_HYPOXIA_UP, REACTOME_REGULATION_OF_HSF1_MEDIATED_HEAT_SHOCK_RESPONSE, REACTOME_HSF1_ACTIVATION, REACTOME_CELLULAR_RESPONSE_TO_HEAT_STRESS
GO Biological Process (2): signal transduction (GO:0007165), female pregnancy (GO:0007565)
GO Molecular Function (2): hormone activity (GO:0005179), protein binding (GO:0005515)
GO Cellular Component (1): extracellular region (GO:0005576)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Cellular response to heat stress | 3 |
| HSF1-dependent transactivation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| multi-organism reproductive process | 1 |
| multi-multicellular organism process | 1 |
| receptor ligand activity | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
354 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RLN1 | RXFP1 | Q9HBX9 | 990 |
| RLN1 | INSL3 | P51460 | 948 |
| RLN1 | RXFP2 | Q8WXD0 | 945 |
| RLN1 | INSL5 | Q9Y5Q6 | 944 |
| RLN1 | RLN3 | Q8WXF3 | 939 |
| RLN1 | INSL4 | Q14641 | 925 |
| RLN1 | RXFP3 | Q9NSD7 | 882 |
| RLN1 | RXFP4 | Q8TDU9 | 821 |
| RLN1 | INS | P01308 | 781 |
| RLN1 | LGR6 | Q9HBX8 | 727 |
| RLN1 | RLF | Q13129 | 546 |
| RLN1 | TEX53 | A0A1B0GU33 | 541 |
| RLN1 | MBL2 | P11226 | 497 |
| RLN1 | TAC4 | Q86UU9 | 495 |
| RLN1 | X6REF7 | X6REF7 | 490 |
IntAct
9 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GOLGA6L9 | RLN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RLN1 | MID2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RLN1 | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| RLN1 | MANBA | psi-mi:“MI:0914”(association) | 0.350 |
| RLN1 | GOLGA6L9 | psi-mi:“MI:0915”(physical association) | 0.000 |
| RLN1 | MID2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (91): RLN1 (Two-hybrid), GOLGA6L9 (Two-hybrid), CLN5 (Affinity Capture-MS), NLN (Affinity Capture-MS), TRAPPC1 (Affinity Capture-MS), TRIM32 (Affinity Capture-MS), ITGA4 (Affinity Capture-MS), VWDE (Affinity Capture-MS), GALNT18 (Affinity Capture-MS), LARGE (Affinity Capture-MS), SEMA6A (Affinity Capture-MS), NLGN2 (Affinity Capture-MS), TUBB3 (Affinity Capture-MS), LEPREL2 (Affinity Capture-MS), EDEM1 (Affinity Capture-MS)
ESM2 similar proteins: A5A6J6, O35417, P01172, P01213, P01214, P01347, P01348, P04090, P04808, P05408, P06300, P09681, P12961, P13207, P17640, P19884, P20800, P22389, P22969, P23943, P27682, P33745, P45644, P47932, P48143, P51453, P51454, P51455, P51456, P56943, P69155, P69156, P69157, Q14641, Q1RMJ9, Q32L79, Q5CZK5, Q5CZK6, Q60478, Q64171
Diamond homologs: P01347, P01348, P04090, P04808, P19884, P22969, P47932, P51453, P51454, P51455, P51456, Q64171, Q9MYK8, Q9TRM8, P11184, P11185, Q14641, Q5CZK6, Q7M3C4, Q9Y581, P01349, P11953
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
53 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 42 |
| Likely benign | 5 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
287 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:5339568:T:TA | donor_gain | 0.9900 |
| 9:5335595:TTT:T | acceptor_gain | 0.9800 |
| 9:5335596:TT:T | acceptor_gain | 0.9800 |
| 9:5335598:C:CC | acceptor_gain | 0.9800 |
| 9:5336707:A:AC | donor_gain | 0.9800 |
| 9:5339260:A:AC | donor_gain | 0.9800 |
| 9:5339261:C:CC | donor_gain | 0.9800 |
| 9:5339298:T:TA | donor_gain | 0.9800 |
| 9:5339530:TCTCA:T | donor_loss | 0.9800 |
| 9:5339531:CTCAC:C | donor_loss | 0.9800 |
| 9:5339532:TCA:T | donor_loss | 0.9800 |
| 9:5339533:CA:C | donor_loss | 0.9800 |
| 9:5335593:AATTT:A | acceptor_gain | 0.9700 |
| 9:5335595:TTTC:T | acceptor_loss | 0.9700 |
| 9:5335597:TCTGT:T | acceptor_loss | 0.9700 |
| 9:5335598:C:A | acceptor_loss | 0.9700 |
| 9:5335599:T:G | acceptor_loss | 0.9700 |
| 9:5336708:G:C | donor_gain | 0.9700 |
| 9:5335594:ATTT:A | acceptor_gain | 0.9600 |
| 9:5339156:T:A | donor_gain | 0.9600 |
| 9:5338658:A:C | donor_gain | 0.9500 |
| 9:5339255:G:GA | donor_gain | 0.9400 |
| 9:5339538:G:A | donor_gain | 0.9400 |
| 9:5335600:G:C | acceptor_loss | 0.9300 |
| 9:5336707:AGAT:A | donor_gain | 0.9200 |
| 9:5338688:A:AC | donor_gain | 0.9200 |
| 9:5338689:C:CC | donor_gain | 0.9200 |
| 9:5339534:ACCTG:A | donor_gain | 0.9200 |
| 9:5339535:CCTGC:C | donor_gain | 0.9200 |
| 9:5339576:CAGAG:C | donor_gain | 0.9200 |
AlphaMissense
1208 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:5335282:C:G | C176S | 0.929 |
| 9:5335283:A:T | C176S | 0.929 |
| 9:5335254:G:C | C185W | 0.919 |
| 9:5335286:C:A | G175C | 0.917 |
| 9:5335283:A:G | C176R | 0.911 |
| 9:5335297:C:G | C171S | 0.910 |
| 9:5335298:A:T | C171S | 0.910 |
| 9:5339607:C:G | C47S | 0.899 |
| 9:5339608:A:T | C47S | 0.899 |
| 9:5339607:C:T | C47Y | 0.897 |
| 9:5335298:A:G | C171R | 0.896 |
| 9:5335255:C:T | C185Y | 0.889 |
| 9:5339643:C:G | C35S | 0.889 |
| 9:5339644:A:T | C35S | 0.889 |
| 9:5335255:C:G | C185S | 0.882 |
| 9:5335256:A:T | C185S | 0.882 |
| 9:5335294:C:G | C172S | 0.881 |
| 9:5335295:A:T | C172S | 0.881 |
| 9:5335296:A:C | C171W | 0.878 |
| 9:5339608:A:G | C47R | 0.872 |
| 9:5335282:C:T | C176Y | 0.870 |
| 9:5339643:C:T | C35Y | 0.869 |
| 9:5335256:A:G | C185R | 0.863 |
| 9:5339606:G:C | C47W | 0.856 |
| 9:5339625:C:G | R41P | 0.854 |
| 9:5335285:C:T | G175D | 0.852 |
| 9:5335281:A:C | C176W | 0.851 |
| 9:5339626:G:T | R41S | 0.845 |
| 9:5339623:C:G | A42P | 0.842 |
| 9:5335293:G:C | C172W | 0.839 |
dbSNP variants (sampled 300 via entrez): RS1000089856 (9:5335792 T>C), RS1000180247 (9:5339401 G>C,T), RS1000233925 (9:5339734 A>C,G), RS1001365463 (9:5341734 G>A), RS1001903790 (9:5337308 G>C), RS1002530568 (9:5334920 C>G,T), RS1002988042 (9:5340803 T>C), RS1002999166 (9:5341020 G>C), RS1003578595 (9:5336245 G>C), RS1003934280 (9:5336061 C>G,T), RS1004669254 (9:5339772 C>G), RS1004675910 (9:5339964 G>A,T), RS1005278566 (9:5342491 G>A,T), RS1005324053 (9:5336290 A>C,G,T), RS1005376529 (9:5336545 T>A,G)
Disease associations
OMIM: gene MIM:179730 | 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
19 total (human), top 19 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | increases methylation, affects cotreatment | 1 |
| testosterone undecanoate | affects cotreatment, increases expression | 1 |
| trichostatin A | decreases expression, increases expression | 1 |
| sodium arsenite | decreases methylation, increases expression | 1 |
| terbutylazine | affects binding, decreases reaction | 1 |
| propazine | affects binding, decreases reaction | 1 |
| entinostat | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Vorinostat | increases expression | 1 |
| Atrazine | affects binding, decreases reaction | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Calcitriol | decreases expression, affects cotreatment | 1 |
| Estradiol | increases expression, decreases reaction | 1 |
| Hydrogen Peroxide | decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Simazine | affects binding, decreases reaction | 1 |
| Testosterone | affects cotreatment, decreases expression | 1 |
| Tetrachlorodibenzodioxin | increases expression, decreases reaction | 1 |
| Levonorgestrel | affects cotreatment, increases 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.