GPR50
gene geneOn this page
Also known as H9Mel1c
Summary
GPR50 (G protein-coupled receptor 50, HGNC:4506) is a protein-coding gene on chromosome Xq28, encoding Melatonin-related receptor (Q13585). G protein-coupled receptor that plays a role in numerous physiological processes including regulation of energy metabolism, neurite outgrowth or cell migration.
This gene product belongs to the G-protein coupled receptor 1 family. Even though this protein shares similarity with the melatonin receptors, it does not bind melatonin, however, it inhibits melatonin receptor 1A function through heterodimerization. Polymorphic variants of this gene have been associated with bipolar affective disorder in women.
Source: NCBI Gene 9248 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 96 total
- Druggable target: yes
- MANE Select transcript:
NM_004224
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4506 |
| Approved symbol | GPR50 |
| Name | G protein-coupled receptor 50 |
| Location | Xq28 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | H9, Mel1c |
| Ensembl gene | ENSG00000102195 |
| Ensembl biotype | protein_coding |
| OMIM | 300207 |
| Entrez | 9248 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000218316
RefSeq mRNA: 1 — MANE Select: NM_004224
NM_004224
CCDS: CCDS44012
Canonical transcript exons
ENST00000218316 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000677604 | 151176584 | 151176908 |
| ENSE00001306006 | 151179771 | 151181465 |
Expression profiles
Bgee: expression breadth broad, 41 present calls, max score 81.66.
FANTOM5 (CAGE): breadth broad, TPM avg 5.1861 / max 578.3263, expressed in 290 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 197982 | 5.1328 | 290 |
| 197983 | 0.0271 | 14 |
| 197984 | 0.0262 | 14 |
Top tissues by expression
267 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adenohypophysis | UBERON:0002196 | 81.66 | gold quality |
| pituitary gland | UBERON:0000007 | 80.65 | gold quality |
| lower lobe of lung | UBERON:0008949 | 53.41 | silver quality |
| pancreatic ductal cell | CL:0002079 | 52.59 | silver quality |
| epithelial cell of pancreas | CL:0000083 | 49.91 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 49.62 | gold quality |
| deltoid | UBERON:0001476 | 49.40 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 49.20 | gold quality |
| hair follicle | UBERON:0002073 | 49.18 | gold quality |
| quadriceps femoris | UBERON:0001377 | 49.08 | gold quality |
| olfactory bulb | UBERON:0002264 | 48.92 | gold quality |
| myocardium | UBERON:0002349 | 48.87 | gold quality |
| type B pancreatic cell | CL:0000169 | 48.83 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 48.55 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 48.50 | gold quality |
| vastus lateralis | UBERON:0001379 | 48.39 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 48.24 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 48.20 | gold quality |
| upper arm skin | UBERON:0004263 | 48.06 | gold quality |
| cervix epithelium | UBERON:0004801 | 48.04 | gold quality |
| oviduct epithelium | UBERON:0004804 | 48.00 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 47.92 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 47.80 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 47.45 | gold quality |
| thymus | UBERON:0002370 | 47.42 | gold quality |
| kidney epithelium | UBERON:0004819 | 47.39 | gold quality |
| nephron tubule | UBERON:0001231 | 47.30 | gold quality |
| diaphragm | UBERON:0001103 | 47.05 | gold quality |
| gluteal muscle | UBERON:0002000 | 47.03 | gold quality |
| triceps brachii | UBERON:0001509 | 47.01 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.00 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 16)
- Polymorphisms in GPR50 were compared in bipolar affective disorder (BD), major depressive disorder (MDD), schizophrenia (SCZ) and controls. GPR50(Delta502-505) or a variant is a sex-specific risk factor for susceptibility to BD and SCZ. (PMID:15452587)
- Results describe sequence variants in the melatonin-related receptor gene (GPR50) that associate with circulating triglyceride and HDL levels. (PMID:16436372)
- GPR50, an orphan GPCR, heterodimerizes constitutively and specifically with MT(1) and MT(2) melatonin receptors (PMID:16778767)
- No evidence for an association for this gene with mood disorders in a Hungarian population. (PMID:18075476)
- Results identify neurite outgrowth inhibitor NOGO-A as an interacting partner of GPR50 and found an enrichment of both Gpr50 and neuronal Nogo-A at the synapse. (PMID:19699797)
- Antibodies were used to study the expression of GPR50 in mouse, rat and human hypothalamus.GPR50 immunoreactivity (ir) was observed in dorsomedial hypothalamic (DMH) cells and in cells of the ependymal layer of the third ventricle of the hypothalamus. (PMID:20210849)
- This is the first association of rs1202874 with BD and is the second positive association at the GPR50 locus. (PMID:20371266)
- we found 2 polymorphisms in the GPR50 receptor of patients with adolescent idiopathic scoliosis, but they were not present at a highly significant frequency when compared with controls (PMID:20733416)
- Positive expression of melatonin receptor can be found in human hypertrophic scar and normal skin, but it is higher in scar. (PMID:20737950)
- study found an association between Seasonal Affective Disorder (SAD) and a single nucleotide polymorphism (intronic rs2072621) of the gene encoding GPR50 in females. (PMID:21565467)
- The results provide deeper insight into the functional evolution of GPR50 in mammals at the molecular level (PMID:25730005)
- There was only weak female-specific association between GPR50 variants in late-life depression. No significant associations were observed in men. (PMID:25798330)
- Pre-eclampsia (PE) plasma IgG1 anti-Epstein-Barr virus nuclear antigen 1 (EBNA-1) antibody cross-reacts with placental protein G protein-coupled receptor 50 (GPR50). (PMID:27181993)
- GPR50 is a TbetaRI co-receptor with potential impact on cancer development (PMID:29572483)
- GPR50 promoter methylation level was decreased in the male Alzheimer’s disease group compared with the male control group. (PMID:31173244)
- GPR50-Ctail cleavage and nuclear translocation: a new signal transduction mode for G protein-coupled receptors. (PMID:31900622)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mtnr1c | ENSDARG00000035609 |
| mus_musculus | Gpr50 | ENSMUSG00000056380 |
| rattus_norvegicus | Gpr50 | ENSRNOG00000011335 |
Paralogs (33): TACR2 (ENSG00000075073), PROKR2 (ENSG00000101292), TACR1 (ENSG00000115353), GPR75 (ENSG00000119737), PRLHR (ENSG00000119973), GPR83 (ENSG00000123901), MCHR1 (ENSG00000128285), OR11H1 (ENSG00000130538), MTNR1B (ENSG00000134640), MCHR2 (ENSG00000152034), NPY1R (ENSG00000164128), NPY5R (ENSG00000164129), MTNR1A (ENSG00000168412), PROKR1 (ENSG00000169618), TACR3 (ENSG00000169836), OR9G1 (ENSG00000174914), OR11H4 (ENSG00000176198), OR11H6 (ENSG00000176219), OR9A2 (ENSG00000179468), GPR88 (ENSG00000181656), GPR19 (ENSG00000183150), NPY2R (ENSG00000185149), OR11G2 (ENSG00000196832), NPY4R (ENSG00000204174), OR11A1 (ENSG00000204694), OR9A1P (ENSG00000237621), OR11H12 (ENSG00000257115), OR9A4 (ENSG00000258083), OR11H2 (ENSG00000258453), OR11H7 (ENSG00000258806), NPY4R2 (ENSG00000264717), OR10X1 (ENSG00000279111), OR51F1 (ENSG00000280021)
Protein
Protein identifiers
Melatonin-related receptor — Q13585 (reviewed: Q13585)
Alternative names: G protein-coupled receptor 50, H9
All UniProt accessions (1): Q13585
UniProt curated annotations — full annotation on UniProt →
Function. G protein-coupled receptor that plays a role in numerous physiological processes including regulation of energy metabolism, neurite outgrowth or cell migration. Promotes self-renewal and neuronal differentiation of neural progenitor cells through activation of the NOTCH and WNT/beta-catenin signaling pathways. Modulates the KAT5-dependent glucocorticoid receptor signaling by modulating KAT5 subcellular compartmentalisation. Also plays a role in the activation TGFBR1 in the absence of TGFBR2 by interfering with FKBP1A binding to TGFBR1, leading to induction of both canonical and non-canonical SMAD signaling pathways resulting in inhibition of proliferation or promotion of migration. Upon cleavage by CAPN1, functions as a scaffold in the nucleus for interacting partners such as GTF2I to promote FOS promoter activation.
Subunit / interactions. Homodimer, and heterodimer with MTNR1A and MTNR1B. Interacts with KAT5. Interacts with RTN4 isoform A/NOGO-A. Interacts with TGFBR1. Interacts with GTF2I.
Subcellular location. Cell membrane. Postsynaptic density Nucleus.
Tissue specificity. Hypothalamus and pituitary.
Post-translational modifications. Cleaved by CAPN1 in a calcium-dependent manner.
Induction. By TGFB.
Similarity. Belongs to the G-protein coupled receptor 1 family.
RefSeq proteins (1): NP_004215* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000025 | Melatonin_rcpt | Family |
| IPR000276 | GPCR_Rhodpsn | Family |
| IPR002280 | Mel_rcpt_1X | Family |
| IPR017452 | GPCR_Rhodpsn_7TM | Domain |
Pfam: PF00001
UniProt features (28 total): topological domain 8, transmembrane region 7, sequence variant 3, chain 2, region of interest 2, compositionally biased region 2, sequence conflict 2, site 1, disulfide bond 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9L9O | ELECTRON MICROSCOPY | 2.98 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q13585-F1 | 67.35 | 0.32 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 408–409 (cleavage; by calpain-1/capn1)
Disulfide bonds (1): 101–178
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 55 (showing top):
RACCACAR_AML_Q6, GOBP_CELL_CELL_SIGNALING, KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION, TATA_C, AACTTT_UNKNOWN, TTCNRGNNNNTTC_HSF_Q6, GOCC_POSTSYNAPSE, GOCC_SYNAPSE, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, CHENG_IMPRINTED_BY_ESTRADIOL, GOMF_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY, MEISSNER_BRAIN_HCP_WITH_H3K27ME3, MEISSNER_NPC_HCP_WITH_H3K4ME2, MIKKELSEN_MEF_HCP_WITH_H3_UNMETHYLATED, chrXq28
GO Biological Process (3): G protein-coupled receptor signaling pathway (GO:0007186), cell-cell signaling (GO:0007267), signal transduction (GO:0007165)
GO Molecular Function (3): G protein-coupled receptor activity (GO:0004930), melatonin receptor activity (GO:0008502), protein binding (GO:0005515)
GO Cellular Component (6): nucleoplasm (GO:0005654), plasma membrane (GO:0005886), postsynaptic density (GO:0014069), nucleus (GO:0005634), membrane (GO:0016020), synapse (GO:0045202)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| G protein-coupled receptor activity | 2 |
| cell communication | 2 |
| signaling | 2 |
| cellular anatomical structure | 2 |
| signal transduction | 1 |
| cellular process | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| transmembrane signaling receptor activity | 1 |
| G protein-coupled receptor signaling pathway | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| membrane | 1 |
| cell periphery | 1 |
| asymmetric synapse | 1 |
| postsynaptic specialization | 1 |
| intracellular membrane-bounded organelle | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
822 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GPR50 | ASMT | P46597 | 598 |
| GPR50 | AANAT | Q16613 | 577 |
| GPR50 | F9 | P00740 | 548 |
| GPR50 | QRFP | P83859 | 533 |
| GPR50 | GPR62 | Q9BZJ7 | 497 |
| GPR50 | PRL | P01236 | 490 |
| GPR50 | NQO2 | P16083 | 479 |
| GPR50 | KAT5 | Q92993 | 467 |
| GPR50 | RARRES2 | Q99969 | 446 |
| GPR50 | GPR88 | Q9GZN0 | 445 |
| GPR50 | GPR26 | Q8NDV2 | 441 |
| GPR50 | CAND2 | O75155 | 438 |
| GPR50 | NPVF | Q9HCQ7 | 438 |
| GPR50 | KRT74 | Q7RTS7 | 434 |
| GPR50 | FKBP1A | P20071 | 426 |
IntAct
73 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IFT27 | IFT56 | psi-mi:“MI:0914”(association) | 0.690 |
| HLA-C | HLA-A | psi-mi:“MI:0914”(association) | 0.670 |
| ATP5F1B | ATP5PD | psi-mi:“MI:0914”(association) | 0.670 |
| GPR50 | ZNF572 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF572 | GPR50 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LPAR1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| IPPK | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| HTR2C | KLRG2 | psi-mi:“MI:0914”(association) | 0.530 |
| ADGRG5 | KLRG2 | psi-mi:“MI:0914”(association) | 0.530 |
| MAS1 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM171 | THAP12 | psi-mi:“MI:0914”(association) | 0.530 |
| N | RBM47 | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM9 | ESYT2 | psi-mi:“MI:0914”(association) | 0.530 |
| GPR21 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| GPR50 | MT1A | psi-mi:“MI:0915”(physical association) | 0.520 |
| GPR50 | MT1A | psi-mi:“MI:2364”(proximity) | 0.520 |
| GPR50 | MT1A | psi-mi:“MI:0403”(colocalization) | 0.520 |
| NRAS | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.480 |
| GPR50 | GPR50 | psi-mi:“MI:0915”(physical association) | 0.470 |
| GPR50 | MT2A | psi-mi:“MI:0915”(physical association) | 0.470 |
| GPR50 | GPR50 | psi-mi:“MI:2364”(proximity) | 0.470 |
| GPR50 | MT2A | psi-mi:“MI:2364”(proximity) | 0.470 |
| GPR50 | H2BC21 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ADAM17 | GPR50 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (83): ZNF572 (Two-hybrid), GPR50 (Affinity Capture-MS), GPR50 (Affinity Capture-MS), GPR50 (Affinity Capture-MS), GPR50 (Affinity Capture-MS), GPR50 (Affinity Capture-MS), GPR50 (Affinity Capture-MS), GPR50 (Affinity Capture-MS), GPR50 (Affinity Capture-MS), GPR50 (Affinity Capture-MS), GPR50 (Affinity Capture-MS), GPR50 (Affinity Capture-MS), GPR50 (Affinity Capture-MS), GPR50 (Affinity Capture-MS), GPR50 (Affinity Capture-MS)
ESM2 similar proteins: A9RZ57, E7EM37, F5HET1, O01670, O12000, O57422, O75121, O77408, O88495, O95800, P09256, P11322, P15792, P16751, P16849, P20905, P22270, P34590, P49219, Q03613, Q10042, Q13585, Q14439, Q16950, Q18775, Q18LE5, Q25190, Q25414, Q28558, Q2KNE5, Q4R1I4, Q61H86, Q64017, Q6AYF7, Q6RYS9, Q6SW98, Q6X632, Q7Z2Y5, Q804Q2, Q804X9
Diamond homologs: A5A4K9, A5A4L1, C3ZQF9, F1MV99, G4WMX4, O02835, O02836, O08725, O42179, O43614, O54799, O62729, O62809, O70342, O77408, P0DQD5, P11617, P20288, P22270, P24053, P24628, P25929, P25931, P28336, P29274, P30731, P30938, P30975, P32251, P35346, P35371, P41143, P47211, P47751, P49146, P49219, P49285, P49288, P49683, P50391
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| GPR50 | “up-regulates activity” | ADAM17 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 89 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| G alpha (q) signalling events | 8 | 8.3× | 3e-04 |
| Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell | 5 | 7.9× | 3e-03 |
| Peptide ligand-binding receptors | 5 | 6.7× | 6e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| adenylate cyclase-activating G protein-coupled receptor signaling pathway | 10 | 14.9× | 8e-07 |
| phospholipase C-activating G protein-coupled receptor signaling pathway | 7 | 12.1× | 4e-04 |
| cell surface receptor signaling pathway | 8 | 6.7× | 4e-03 |
| G protein-coupled receptor signaling pathway | 13 | 6.2× | 5e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
96 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 80 |
| Likely benign | 8 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
267 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:151179761:T:G | acceptor_gain | 1.0000 |
| X:151179766:TTCA:T | acceptor_loss | 1.0000 |
| X:151179768:CA:C | acceptor_loss | 1.0000 |
| X:151179769:A:AG | acceptor_gain | 1.0000 |
| X:151179769:A:C | acceptor_loss | 1.0000 |
| X:151179770:G:GG | acceptor_gain | 1.0000 |
| X:151179756:C:A | acceptor_gain | 0.9900 |
| X:151179760:A:AG | acceptor_gain | 0.9900 |
| X:151179760:AT:A | acceptor_gain | 0.9900 |
| X:151179761:T:TA | acceptor_gain | 0.9900 |
| X:151179769:AG:A | acceptor_gain | 0.9900 |
| X:151179770:GG:G | acceptor_gain | 0.9900 |
| X:151179770:GGC:G | acceptor_gain | 0.9900 |
| X:151179770:GGCA:G | acceptor_gain | 0.9900 |
| X:151179770:GGCAA:G | acceptor_gain | 0.9900 |
| X:151177634:GTCC:G | donor_gain | 0.9800 |
| X:151177630:CAAG:C | donor_loss | 0.9700 |
| X:151177631:AAG:A | donor_loss | 0.9700 |
| X:151177638:G:GG | donor_gain | 0.9700 |
| X:151177632:AGGTC:A | donor_gain | 0.9600 |
| X:151177346:T:G | donor_gain | 0.9500 |
| X:151177637:C:CG | donor_gain | 0.9500 |
| X:151179013:C:T | donor_gain | 0.9500 |
| X:151176909:G:GG | donor_gain | 0.9400 |
| X:151177631:AAGGT:A | donor_gain | 0.9400 |
| X:151177633:GGTC:G | donor_gain | 0.9400 |
| X:151176905:TCTGG:T | donor_loss | 0.9300 |
| X:151176909:GTAA:G | donor_loss | 0.9300 |
| X:151176910:T:A | donor_loss | 0.9300 |
| X:151177635:T:A | donor_gain | 0.9300 |
AlphaMissense
4093 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:151179788:A:C | S69R | 0.999 |
| X:151179790:T:A | S69R | 0.999 |
| X:151179790:T:G | S69R | 0.999 |
| X:151180484:T:C | F301L | 0.998 |
| X:151180486:C:A | F301L | 0.998 |
| X:151180486:C:G | F301L | 0.998 |
| X:151180485:T:C | F301S | 0.997 |
| X:151179960:G:C | R126P | 0.996 |
| X:151180442:A:C | S287R | 0.996 |
| X:151180444:C:A | S287R | 0.996 |
| X:151180444:C:G | S287R | 0.996 |
| X:151180467:G:A | G295E | 0.996 |
| X:151180485:T:G | F301C | 0.996 |
| X:151176876:C:A | A52D | 0.994 |
| X:151180040:T:A | W153R | 0.994 |
| X:151180040:T:C | W153R | 0.994 |
| X:151180115:T:C | C178R | 0.994 |
| X:151180117:C:G | C178W | 0.994 |
| X:151180319:T:C | F246L | 0.994 |
| X:151180321:T:A | F246L | 0.994 |
| X:151180321:T:G | F246L | 0.994 |
| X:151180488:G:C | R302P | 0.994 |
| X:151176854:G:C | G45R | 0.993 |
| X:151176855:G:A | G45D | 0.993 |
| X:151176859:C:A | N46K | 0.993 |
| X:151176859:C:G | N46K | 0.993 |
| X:151179884:T:A | C101S | 0.993 |
| X:151179885:G:C | C101S | 0.993 |
| X:151179951:C:A | A123D | 0.993 |
| X:151180116:G:A | C178Y | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1000717126 (X:151177236 C>T), RS1000864690 (X:151179502 A>G), RS1001255852 (X:151174808 G>C), RS1001355813 (X:151182230 A>G), RS1001623658 (X:151175153 T>C), RS1002895906 (X:151176821 G>A), RS1003331674 (X:151180781 G>A), RS1003337508 (X:151176428 T>C,G), RS1004841500 (X:151181744 CTT>C), RS1005337522 (X:151175984 C>G), RS1006170655 (X:151182301 A>G), RS1006513049 (X:151182621 C>G,T), RS1006904065 (X:151183331 C>A,G,T), RS1007142279 (X:151177134 A>G,T), RS1007729245 (X:151174783 C>G)
Disease associations
OMIM: gene MIM:300207 | 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: yes
ChEMBL targets (1): CHEMBL3341577 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: gpcr — Class A Orphans with no pharmacology
Most potent curated ligand interactions (1 total), top 1:
| Ligand | Action | Affinity | Parameter |
|---|---|---|---|
| LittleLEN | Agonist | 7.32 | pEC50 |
CTD chemical–gene interactions
18 total (human), top 18 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases expression | 2 |
| methylmercuric chloride | increases expression | 1 |
| decabromobiphenyl ether | increases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| tetrabromobisphenol A | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| tetrachlorodian | increases expression | 1 |
| abrine | increases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Calcitriol | increases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Estradiol | increases expression | 1 |
| Lipopolysaccharides | affects response to substance, increases expression | 1 |
| Nicotine | increases expression, increases splicing | 1 |
| Valproic Acid | increases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| Acrylamide | increases expression | 1 |
ChEMBL screening assays
3 unique, capped per target: 3 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL3383679 | Binding | Displacement of [125I]2-Iodomelatonin from human MT1 receptor at 10 uM | Development of (E)-2-((1,4-dimethylpiperazin-2-ylidene)amino)-5-nitro-N-phenylbenzamide, ML336: Novel 2-amidinophenylbenzamides as potent inhibitors of venezuelan equine encephalitis virus. — J Med Chem |
Cellosaurus cell lines
2 cell lines: 1 transformed cell line, 1 spontaneously immortalized cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D7GK | Ubigene HEK293T GPR50 KO | Transformed cell line | Female |
| CVCL_KX65 | PathHunter CHO-K1 GPR50 beta-arrestin | Spontaneously immortalized cell line | Female |
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.