RLN2
gene geneOn this page
Also known as H2RLXH2bA12D24.1.1bA12D24.1.2
Summary
RLN2 (relaxin 2, HGNC:10027) is a protein-coding gene on chromosome 9p24.1, encoding Prorelaxin H2 (P04090). Relaxin is an ovarian hormone that acts with estrogen to produce dilatation of the birth canal in many mammals.
This gene encodes a member of the relaxin subfamily and insulin superfamily of peptide hormones. In humans there are three non-allelic relaxin genes. This gene encodes multiple protein isoforms, at least one of which undergoes proteolytic processing. This processing generates relaxin A and B chains that are linked by disulfide bonds to form the mature peptide hormone. This hormone plays a role in the male and female reproductive systems and was initially noted for its role in pregnancy. This protein also plays broader roles in the cardiovascular system, including in the regulation of blood pressure and control of heart rate, and data from animal models shows that this protein may have anti-fibrotic and cardioprotective effects.
Source: NCBI Gene 6019 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 43 total — 1 pathogenic
- MANE Select transcript:
NM_134441
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10027 |
| Approved symbol | RLN2 |
| Name | relaxin 2 |
| Location | 9p24.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | H2, RLXH2, bA12D24.1.1, bA12D24.1.2 |
| Ensembl gene | ENSG00000107014 |
| Ensembl biotype | protein_coding |
| OMIM | 179740 |
| Entrez | 6019 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000381627, ENST00000416837
RefSeq mRNA: 2 — MANE Select: NM_134441
NM_005059, NM_134441
CCDS: CCDS6460
Canonical transcript exons
ENST00000381627 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001865224 | 5304370 | 5304716 |
| ENSE00003571259 | 5299864 | 5300444 |
Expression profiles
Bgee: expression breadth ubiquitous, 165 present calls, max score 92.74.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0680 / max 35.6209, expressed in 42 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 99815 | 0.0680 | 42 |
Top tissues by expression
281 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endometrium epithelium | UBERON:0004811 | 92.74 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 90.30 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 87.75 | gold quality |
| islet of Langerhans | UBERON:0000006 | 72.30 | gold quality |
| right uterine tube | UBERON:0001302 | 67.66 | gold quality |
| pituitary gland | UBERON:0000007 | 66.64 | gold quality |
| adenohypophysis | UBERON:0002196 | 66.61 | gold quality |
| granulocyte | CL:0000094 | 65.59 | gold quality |
| endothelial cell | CL:0000115 | 64.48 | silver quality |
| lymph node | UBERON:0000029 | 64.02 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 63.29 | gold quality |
| pancreatic ductal cell | CL:0002079 | 61.42 | silver quality |
| metanephros cortex | UBERON:0010533 | 60.17 | gold quality |
| tibialis anterior | UBERON:0001385 | 60.10 | silver quality |
| vermiform appendix | UBERON:0001154 | 60.09 | gold quality |
| left testis | UBERON:0004533 | 59.89 | gold quality |
| ventricular zone | UBERON:0003053 | 59.71 | gold quality |
| testis | UBERON:0000473 | 59.56 | gold quality |
| prostate gland | UBERON:0002367 | 59.42 | gold quality |
| pancreas | UBERON:0001264 | 57.65 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 57.51 | gold quality |
| right testis | UBERON:0004534 | 57.49 | gold quality |
| caecum | UBERON:0001153 | 57.12 | gold quality |
| spleen | UBERON:0002106 | 56.81 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 56.78 | gold quality |
| decidua | UBERON:0002450 | 56.55 | gold quality |
| ileal mucosa | UBERON:0000331 | 55.93 | silver quality |
| upper leg skin | UBERON:0004262 | 55.27 | gold quality |
| deltoid | UBERON:0001476 | 54.47 | silver quality |
| epithelium of nasopharynx | UBERON:0001951 | 54.40 | silver quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.22 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ESR1, FOXC1, NR3C1, PGR
miRNA regulators (miRDB)
23 targeting RLN2, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-10395-5P | 99.86 | 67.35 | 676 |
| HSA-MIR-466 | 99.67 | 70.85 | 2863 |
| HSA-MIR-4276 | 99.56 | 67.66 | 2514 |
| HSA-MIR-7159-5P | 99.53 | 72.12 | 2472 |
| HSA-MIR-4643 | 99.49 | 67.63 | 1791 |
| HSA-MIR-377-3P | 99.37 | 70.18 | 1905 |
| HSA-MIR-6507-5P | 99.36 | 70.46 | 2524 |
| HSA-MIR-4291 | 99.20 | 68.88 | 2969 |
| HSA-MIR-4263 | 99.18 | 69.25 | 2236 |
| HSA-MIR-4711-5P | 98.89 | 68.00 | 965 |
| HSA-MIR-6818-5P | 97.50 | 67.10 | 1167 |
| HSA-MIR-3649 | 96.85 | 64.10 | 340 |
| HSA-MIR-592 | 96.59 | 67.59 | 817 |
| HSA-MIR-492 | 94.02 | 64.46 | 413 |
| HSA-LET-7D-3P | 89.01 | 66.89 | 93 |
Literature-anchored findings (GeneRIF, showing 40)
- Expression, purification and characterization of human prorelaxin-like-protein H2 in Escherichia coli (PMID:12198562)
- regulates fibrillin 2, but not fibrillin 1, mRNA and protein expression by human dermal fibroblasts and murine fetal skin (PMID:12590922)
- Relaxin stimulates new blood vessel formation and increases cytokine-containing lymphocyte number while maintaining endometrial connective tissue integrity. (PMID:15070778)
- No difference in bioactivity was detected between porcine relaxin-1 and recombinant human relaxin-2 in either mice or rats (PMID:15956696)
- Adenovirus-mediated delivery of human H2 preprorelaxin (hH2) to the brain is capable of producing bioactive relaxin that affects cardiovascular parameters (PMID:15956711)
- relaxin 2 can increase Cyclic AMP via Gs-adenylate cyclase pathway (PMID:15956719)
- Although all cell types expressed mRNA for the relaxin receptor (LGR7), only peripheral blood mononuclear cells responded to relaxin 2 at physiologic levels by increasing tumor necrosis factor-alpha and interleukin-1beta secretion (PMID:15956727)
- characterization of upregulated H2 relaxin gene expression during neuroendocrine differentiation of the human prostate cancer model, LNCaP (PMID:15956728)
- 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)
- Relaxin is a potent antifibrotic hormone with a rapid-occurring efficacy that may have therapeutic potential for hypertensive disease. (PMID:15967869)
- study provides the first account of a potential role of H2 relaxin in prostate tumor development (PMID:16049981)
- The structural-functional organization of the adenylyl cyclase signaling mechanism due to the action of human relaxin 2 was deciphered. (PMID:16580233)
- Relaxin enhances the oncogenic potential and acts as novel endocrine modulator of invasiveness in human thyroid carcinoma cells. (PMID:16877360)
- Relaxin signaling plays a role in prostate cancer progression. (PMID:17363522)
- Correlation between fibrinogen levels and relaxin expression. Relaxin may exert its cardioprotective properties after pathologic fibrinogen increase. May be affected by diabetes. Cardiovascular risk may increase in women with aberrant relaxin function. (PMID:17616862)
- Inappropriate activation of androgen receptor by relaxin via beta-catenin pathway. (PMID:17653089)
- results suggest that relaxin may promote the invasive potential of early placental EVTs through up-regulating MMP-2, -9 mRNAs and down-regulating TIMP-1 mRNA in EVTs. (PMID:18236174)
- Data show taht relaxin causes mast cell inhibition and reduced ventricular arrhythmias in a swine model of acute myocardial infarction. (PMID:18345514)
- analysis of truncated human relaxin-2 and -3 (H2 and H3) relaxin peptides and their binding and cAMP activities on RXFP1, RXFP2, and RXFP3 (PMID:18434306)
- Relaxin 2 was expressed in E. coli BL21 (DE3), several forms of the protein were made. One species had the expected molecular weight (19,084 Da). A 2ndspecies observed had a molecular weight of 21,244 Da. A 3rd species had a molecular weight of 17,118 Da (PMID:18474430)
- Negative cooperativity in H2 relaxin binding to a dimeric relaxin family peptide receptor 1. (PMID:18723073)
- RLXH2 inhibits myofibroblast differentiation via RXFP1, the nitric oxide pathway, and Smad2. (PMID:19073841)
- Study have identified a positive auto-regulatory loop of human relaxin-2 expression which involves GR and relaxin/GR binding to half-GREs in the relaxin-2 promoter. (PMID:19289144)
- Women homozygous for prevalent SNPs in the RLN2 gene may have a genetic susceptibility for preterm birth. (PMID:20023247)
- Stable RLN2 transfectants secreted enhanced levels of bioactive MMP2 which contributed to the increased collagenolytic activity and in vitro invasiveness into collagen matrix by human thyroid cancer cells. (PMID:21493587)
- The mean serum relaxin concentrations for athletes with anterior cruciate ligament tears was significantly higher than that for those without anterior cruciate ligament tears. (PMID:21737831)
- The combined data indicate RLN2 overexpression is frequent in prostate cancer patients (PMID:21789713)
- The minimal active structure of human relaxin-2. (PMID:21878627)
- Relaxin significantly increased the MMP-1 and MMP-8 expression in a time-dependent manner in human periodontal ligament cells in vitro. (PMID:22141456)
- H2-RLX could give play to the antifibrotic effects by repressing the fibroblast proliferation and transdifferentiation for myofibroblast in systemic sclerosis. (PMID:22152813)
- Recombinant H2 relaxin selectively inhibits apoptosis by down-regulating caspse-3 expression and induces proliferation in cultured human leiomyoma cells without affecting apoptosis or proliferation in normal myometrial cells. (PMID:22226177)
- relaxin-2 and its receptors RXFP1 and RXFP2 are expressed in GSV and their expression is significantly decreased in varicose GSV (PMID:22737225)
- The role of the pleiotropic peptide hormone, human relaxin-2 in cancer. [Review] (PMID:22855207)
- Skeletal myoblasts engineered to express RLN2 promote myocardial viability and performance improvement post-myocardial infarction. (PMID:22949764)
- Identification of key residues essential for the structural fold and receptor selectivity within the A-chain of human gene-2 (H2) relaxin (PMID:23024363)
- Our data support a novel role for the RLN2 ligand-receptor system at the ocular surface and in the lacrimal apparatus as a potential future therapeutic during wound healing at the ocular surface. (PMID:23111608)
- serum relaxin-2 may have a role in progression esophageal squamous cell carcinoma (PMID:23613637)
- overexpression of relaxin-2 protein in hepatocellular carcinoma (HCC) tissues is of predictive value on tumor progression and poor prognosis. (PMID:23661524)
- relaxin may promote the proliferation, invasion and metastasis of osteosarcoma cells by regulating the expression of MMP-9 and facilitating ECM degradation. (PMID:23661525)
- This review provides information on the structure and function of relaxin and its receptors. Furthermore, we present evidence of the involvement of these elements in the process of cancerogenesis. (PMID:23668059)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Rln1 | ENSMUSG00000039097 |
| rattus_norvegicus | Rln1 | ENSRNOG00000060867 |
Paralogs (3): RLN1 (ENSG00000107018), INSL6 (ENSG00000120210), INSL4 (ENSG00000120211)
Protein
Protein identifiers
Prorelaxin H2 — P04090 (reviewed: P04090)
All UniProt accessions (2): P04090, H0Y5M9
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. Isoform 1 is expressed in the ovary during pregnancy. Also expressed in placenta, decidua and prostate. Isoform 2 is relatively abundant in placenta. It is in much lower abundance in the prostate gland. Not detected in the ovary.
Similarity. Belongs to the insulin family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P04090-1 | 1 | yes |
| P04090-2 | 2 |
RefSeq proteins (2): NP_005050, NP_604390* (*=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 (16 total): helix 4, disulfide bond 3, peptide 2, sequence variant 2, splice variant 2, signal peptide 1, propeptide 1, modified residue 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6RLX | X-RAY DIFFRACTION | 1.5 |
| 2MV1 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P04090-F1 | 62.52 | 0.24 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 162
Disulfide bonds (3): 35–172, 47–185, 171–176
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-418555 | G alpha (s) signalling events |
| R-HSA-444821 | Relaxin receptors |
MSigDB gene sets: 89 (showing top):
YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_10, CCAWYNNGAAR_UNKNOWN, GOZGIT_ESR1_TARGETS_DN, GOBP_POSITIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT, GGGTGGRR_PAX4_03, REACTOME_PEPTIDE_LIGAND_BINDING_RECEPTORS, GOBP_BLOOD_VESSEL_MORPHOGENESIS, GOBP_MULTI_MULTICELLULAR_ORGANISM_PROCESS, SASAKI_ADULT_T_CELL_LEUKEMIA, GOBP_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS, GOMF_SIGNALING_RECEPTOR_BINDING, CONCANNON_APOPTOSIS_BY_EPOXOMICIN_DN, GOBP_CIRCULATORY_SYSTEM_DEVELOPMENT, GOBP_REGULATION_OF_VASCULATURE_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS
GO Biological Process (5): female pregnancy (GO:0007565), positive regulation of gene expression (GO:0010628), positive regulation of angiogenesis (GO:0045766), regulation of catalytic activity (GO:0050790), signal transduction (GO:0007165)
GO Molecular Function (1): hormone activity (GO:0005179)
GO Cellular Component (1): extracellular region (GO:0005576)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| GPCR downstream signalling | 1 |
| Peptide ligand-binding receptors | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| multi-organism reproductive process | 1 |
| multi-multicellular organism process | 1 |
| gene expression | 1 |
| regulation of gene expression | 1 |
| positive regulation of macromolecule biosynthetic process | 1 |
| angiogenesis | 1 |
| regulation of angiogenesis | 1 |
| positive regulation of vasculature development | 1 |
| catalytic activity | 1 |
| regulation of molecular function | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| receptor ligand activity | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
350 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RLN2 | RXFP1 | Q9HBX9 | 998 |
| RLN2 | RXFP2 | Q8WXD0 | 978 |
| RLN2 | RLN3 | Q8WXF3 | 940 |
| RLN2 | INSL5 | Q9Y5Q6 | 938 |
| RLN2 | INSL3 | P51460 | 918 |
| RLN2 | INSL4 | Q14641 | 917 |
| RLN2 | RXFP3 | Q9NSD7 | 865 |
| RLN2 | RXFP4 | Q8TDU9 | 834 |
| RLN2 | INS | P01308 | 753 |
| RLN2 | LGR6 | Q9HBX8 | 718 |
| RLN2 | INSL6 | Q9Y581 | 559 |
| RLN2 | C1QTNF8 | P60827 | 544 |
| RLN2 | MBL2 | P11226 | 497 |
| RLN2 | X6REF7 | X6REF7 | 490 |
| RLN2 | SFTPA2 | P07714 | 469 |
IntAct
5 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MCTS1 | DENR | psi-mi:“MI:0914”(association) | 0.870 |
| RLN1 | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| RLN2 | AIP | psi-mi:“MI:0914”(association) | 0.350 |
| RLN2 | ACTN3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (11): COL14A1 (Affinity Capture-MS), TENM3 (Affinity Capture-MS), MIPEP (Affinity Capture-MS), RLN2 (Affinity Capture-MS), PCYOX1L (Affinity Capture-MS), AIP (Affinity Capture-MS), RLN2 (Affinity Capture-MS), POTEE (Affinity Capture-MS), COL12A1 (Affinity Capture-MS), TUBA3C (Affinity Capture-MS), ACTN3 (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
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| RLN2 | up-regulates | RXFP1 | binding |
| RLN2 | up-regulates | RXFP2 | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
43 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 35 |
| Likely benign | 6 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 253633 | GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 | Pathogenic |
SpliceAI
290 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:5300442:TTT:T | acceptor_gain | 0.9900 |
| 9:5300443:TT:T | acceptor_gain | 0.9900 |
| 9:5300445:C:CC | acceptor_gain | 0.9900 |
| 9:5300440:AATTT:A | acceptor_gain | 0.9800 |
| 9:5300441:ATTTC:A | acceptor_loss | 0.9800 |
| 9:5300442:TTTCT:T | acceptor_loss | 0.9800 |
| 9:5300443:TTCTG:T | acceptor_loss | 0.9800 |
| 9:5300444:TCTGT:T | acceptor_loss | 0.9800 |
| 9:5300445:CTGTT:C | acceptor_loss | 0.9800 |
| 9:5300446:T:G | acceptor_loss | 0.9800 |
| 9:5304132:T:TA | donor_gain | 0.9800 |
| 9:5300441:ATTT:A | acceptor_gain | 0.9700 |
| 9:5304094:A:AC | donor_gain | 0.9700 |
| 9:5304095:C:CC | donor_gain | 0.9700 |
| 9:5304402:T:TA | donor_gain | 0.9600 |
| 9:5300454:T:C | acceptor_gain | 0.9500 |
| 9:5300448:T:TC | acceptor_gain | 0.9400 |
| 9:5303990:T:A | donor_gain | 0.9400 |
| 9:5303492:A:C | donor_gain | 0.9200 |
| 9:5304089:G:GA | donor_gain | 0.9200 |
| 9:5300452:A:C | acceptor_gain | 0.8900 |
| 9:5304364:TCTCA:T | donor_loss | 0.8800 |
| 9:5304365:CTCA:C | donor_loss | 0.8800 |
| 9:5304366:TCACC:T | donor_loss | 0.8800 |
| 9:5304367:CACCT:C | donor_loss | 0.8800 |
| 9:5304369:C:CG | donor_loss | 0.8800 |
| 9:5300448:T:C | acceptor_gain | 0.8700 |
| 9:5301244:T:A | donor_gain | 0.8700 |
| 9:5300454:T:TC | acceptor_gain | 0.8600 |
| 9:5300453:T:C | acceptor_gain | 0.8500 |
AlphaMissense
1212 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:5300133:C:A | G175C | 0.985 |
| 9:5300129:C:G | C176S | 0.983 |
| 9:5300130:A:T | C176S | 0.983 |
| 9:5300144:C:G | C171S | 0.982 |
| 9:5300145:A:T | C171S | 0.982 |
| 9:5304441:C:G | C47S | 0.982 |
| 9:5304442:A:T | C47S | 0.982 |
| 9:5300141:C:G | C172S | 0.981 |
| 9:5300142:A:T | C172S | 0.981 |
| 9:5304477:C:G | C35S | 0.980 |
| 9:5304478:A:T | C35S | 0.980 |
| 9:5304441:C:T | C47Y | 0.979 |
| 9:5300130:A:G | C176R | 0.974 |
| 9:5304477:C:T | C35Y | 0.974 |
| 9:5300101:G:C | C185W | 0.973 |
| 9:5304442:A:G | C47R | 0.973 |
| 9:5300145:A:G | C171R | 0.970 |
| 9:5300102:C:T | C185Y | 0.967 |
| 9:5300141:C:T | C172Y | 0.967 |
| 9:5304477:C:A | C35F | 0.967 |
| 9:5304440:G:C | C47W | 0.966 |
| 9:5300103:A:G | C185R | 0.964 |
| 9:5304459:C:G | R41P | 0.963 |
| 9:5300102:C:G | C185S | 0.962 |
| 9:5300103:A:T | C185S | 0.962 |
| 9:5300129:C:T | C176Y | 0.962 |
| 9:5300143:A:C | C171W | 0.962 |
| 9:5300132:C:T | G175D | 0.960 |
| 9:5300142:A:G | C172R | 0.960 |
| 9:5304441:C:A | C47F | 0.959 |
dbSNP variants (sampled 300 via entrez): RS1000089856 (9:5335792 T>C), RS1000180247 (9:5339401 G>C,T), RS1000233925 (9:5339734 A>C,G), RS1000238940 (9:5308322 C>G), RS1000246424 (9:5333175 A>G,T), RS1000250481 (9:5301742 G>A,C,T), RS1000291243 (9:5308680 A>C), RS1000351584 (9:5325344 GA>G,GAA), RS1000422419 (9:5329326 A>AAG), RS1000585220 (9:5315323 G>A,C), RS1000596827 (9:5307304 GATAGATGA>G), RS1000637530 (9:5312139 T>C), RS1000701774 (9:5333298 A>C), RS1000943144 (9:5317645 TTACAAA>T), RS1000956820 (9:5326294 G>C)
Disease associations
OMIM: gene MIM:179740 | 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
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| trichostatin A | increases expression, affects cotreatment, decreases expression | 3 |
| Estradiol | affects reaction, affects expression, decreases reaction, increases expression | 3 |
| Valproic Acid | affects expression, increases expression | 2 |
| methylmercuric chloride | decreases expression | 1 |
| propionaldehyde | increases expression | 1 |
| decabromobiphenyl ether | affects expression | 1 |
| butyraldehyde | increases expression | 1 |
| entinostat | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | decreases expression, affects cotreatment | 1 |
| Fulvestrant | decreases reaction, increases expression | 1 |
| Vorinostat | increases expression | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 1 |
| Calcitriol | decreases expression, affects cotreatment | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | decreases expression | 1 |
| Dimethyl Sulfoxide | affects expression | 1 |
| Methylmercury Compounds | decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Testosterone | affects cotreatment, decreases expression | 1 |
| Tetrachlorodibenzodioxin | decreases reaction, increases expression, decreases expression | 1 |
| Thimerosal | decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Aflatoxin B1 | increases expression | 1 |
| Cadmium Chloride | 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.