GPR37L1
gene geneOn this page
Also known as ETBR-LP-2
Summary
GPR37L1 (G protein-coupled receptor 37 like 1, HGNC:14923) is a protein-coding gene on chromosome 1q32.1, encoding G-protein coupled receptor 37-like 1 (O60883). G-protein coupled receptor.
Enables G protein-coupled peptide receptor activity; peptide binding activity; and prosaposin receptor activity. Involved in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway and positive regulation of MAPK cascade. Located in plasma membrane. Part of receptor complex.
Source: NCBI Gene 9283 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 80 total
- Druggable target: yes
- MANE Select transcript:
NM_004767
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14923 |
| Approved symbol | GPR37L1 |
| Name | G protein-coupled receptor 37 like 1 |
| Location | 1q32.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ETBR-LP-2 |
| Ensembl gene | ENSG00000170075 |
| Ensembl biotype | protein_coding |
| OMIM | 617630 |
| Entrez | 9283 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 5 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000367282, ENST00000682422, ENST00000682545, ENST00000682887, ENST00000683302, ENST00000683457, ENST00000683557
RefSeq mRNA: 1 — MANE Select: NM_004767
NM_004767
CCDS: CCDS1420
Canonical transcript exons
ENST00000367282 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001444058 | 202127741 | 202133592 |
| ENSE00001444059 | 202122917 | 202123593 |
Expression profiles
Bgee: expression breadth ubiquitous, 146 present calls, max score 92.05.
FANTOM5 (CAGE): breadth broad, TPM avg 8.2464 / max 421.1318, expressed in 229 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 7781 | 6.0121 | 183 |
| 7780 | 1.0901 | 98 |
| 7779 | 0.3883 | 86 |
| 7782 | 0.3871 | 82 |
| 7778 | 0.3688 | 87 |
Top tissues by expression
271 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 92.05 | silver quality |
| caudate nucleus | UBERON:0001873 | 91.16 | gold quality |
| medial globus pallidus | UBERON:0002477 | 90.79 | gold quality |
| amygdala | UBERON:0001876 | 90.28 | gold quality |
| putamen | UBERON:0001874 | 89.94 | gold quality |
| right frontal lobe | UBERON:0002810 | 89.70 | gold quality |
| nucleus accumbens | UBERON:0001882 | 89.53 | gold quality |
| endothelial cell | CL:0000115 | 89.16 | gold quality |
| globus pallidus | UBERON:0001875 | 88.52 | gold quality |
| primary visual cortex | UBERON:0002436 | 86.96 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 86.81 | gold quality |
| cingulate cortex | UBERON:0003027 | 86.32 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 86.17 | gold quality |
| temporal lobe | UBERON:0001871 | 86.14 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 86.04 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 86.02 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 85.40 | gold quality |
| Ammon’s horn | UBERON:0001954 | 85.19 | gold quality |
| telencephalon | UBERON:0001893 | 85.01 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 84.97 | gold quality |
| spinal cord | UBERON:0002240 | 84.89 | gold quality |
| substantia nigra | UBERON:0002038 | 84.83 | gold quality |
| prefrontal cortex | UBERON:0000451 | 84.76 | gold quality |
| hypothalamus | UBERON:0001898 | 84.57 | gold quality |
| frontal cortex | UBERON:0001870 | 84.26 | gold quality |
| neocortex | UBERON:0001950 | 83.81 | gold quality |
| cerebral cortex | UBERON:0000956 | 83.30 | gold quality |
| midbrain | UBERON:0001891 | 83.14 | gold quality |
| cerebellar cortex | UBERON:0002129 | 82.73 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 82.70 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-84465 | yes | 25.55 |
| E-ANND-3 | yes | 2.89 |
| E-MTAB-6386 | no | 3.39 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
34 targeting GPR37L1, 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-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-7152-3P | 99.97 | 67.47 | 849 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-11181-3P | 99.75 | 66.38 | 2205 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-1283 | 99.69 | 72.42 | 3009 |
| HSA-MIR-186-3P | 99.51 | 66.24 | 1685 |
| HSA-MIR-513C-5P | 99.50 | 68.42 | 1730 |
| HSA-MIR-514B-5P | 99.50 | 68.19 | 1766 |
| HSA-MIR-4696 | 99.48 | 67.48 | 1040 |
| HSA-MIR-196A-3P | 99.19 | 67.34 | 1204 |
| HSA-MIR-661 | 99.09 | 65.94 | 2062 |
| HSA-MIR-4695-5P | 99.06 | 64.87 | 1151 |
| HSA-MIR-5701 | 98.97 | 69.54 | 1502 |
| HSA-MIR-4742-5P | 98.89 | 68.41 | 1542 |
| HSA-MIR-5197-3P | 98.71 | 67.05 | 1905 |
| HSA-MIR-7977 | 98.65 | 66.18 | 2590 |
| HSA-MIR-4266 | 98.53 | 67.29 | 1035 |
| HSA-MIR-6780A-3P | 98.42 | 67.49 | 1518 |
| HSA-MIR-4521 | 97.73 | 67.64 | 684 |
| HSA-MIR-6791-3P | 97.45 | 64.31 | 1123 |
| HSA-MIR-6829-3P | 97.45 | 64.31 | 1137 |
Literature-anchored findings (GeneRIF, showing 9)
- GPR37 and GPR37L1 are receptors for the neuroprotective and glioprotective factors prosaptide and prosaposin. (PMID:23690594)
- These findings provide evidence linking GPR37L1 and GPR37 to seizure etiology and demonstrate an association between a homozygous variant in GPR37L1 (c.1047G>T [Lys349Asn]) and a novel progressive myoclonus epilepsy. (PMID:28688853)
- Cross-correlation, indicating interaction between GPR37L1 and the short isoform of D2R, was also detected. (PMID:30423289)
- The N-terminus of GPR37L1 is proteolytically processed by matrix metalloproteases. (PMID:33203955)
- Identification of the GlialCAM interactome: the G protein-coupled receptors GPRC5B and GPR37L1 modulate megalencephalic leukoencephalopathy proteins. (PMID:34100078)
- Involvement of GPR37L1 in murine blood pressure regulation and human cardiac disease pathophysiology. (PMID:34533400)
- G Protein-Coupled Receptor 37L1 Modulates Epigenetic Changes in Human Renal Proximal Tubule Cells. (PMID:36430934)
- Satellite glial GPR37L1 and its ligand maresin 1 regulate potassium channel signaling and pain homeostasis. (PMID:38530364)
- Rare GPR37L1 Variants Reveal Potential Association between GPR37L1 and Disorders of Anxiety and Migraine. (PMID:38569927)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gpr37l1a | ENSDARG00000006079 |
| danio_rerio | gpr37l1b | ENSDARG00000056774 |
| mus_musculus | Gpr37l1 | ENSMUSG00000026424 |
| rattus_norvegicus | Gpr37l1 | ENSRNOG00000006237 |
| caenorhabditis_elegans | WBGENE00019224 |
Paralogs (15): NTSR1 (ENSG00000101188), BRS3 (ENSG00000102239), MLNR (ENSG00000102539), GHSR (ENSG00000121853), GRPR (ENSG00000126010), NMUR2 (ENSG00000132911), NMBR (ENSG00000135577), EDNRB (ENSG00000136160), EDNRA (ENSG00000151617), NTSR2 (ENSG00000169006), GPR37 (ENSG00000170775), NMUR1 (ENSG00000171596), GPR148 (ENSG00000173302), TRHR (ENSG00000174417), GPR39 (ENSG00000183840)
Protein
Protein identifiers
G-protein coupled receptor 37-like 1 — O60883 (reviewed: O60883)
Alternative names: Endothelin B receptor-like protein 2
All UniProt accessions (5): O60883, A0A804HI82, A0A804HKD8, A0A804HKQ6, A0A804HLL0
UniProt curated annotations — full annotation on UniProt →
Function. G-protein coupled receptor. Has been shown to bind the neuroprotective and glioprotective factor prosaposin (PSAP), leading to endocytosis followed by an ERK phosphorylation cascade. However, other studies have shown that prosaposin does not increase activity. It has been suggested that GPR37L1 is a constitutively active receptor which signals through the guanine nucleotide-binding protein G(s) subunit alpha. Participates in the regulation of postnatal cerebellar development by modulating the Shh pathway. Regulates baseline blood pressure in females and protects against cardiovascular stress in males. Mediates inhibition of astrocyte glutamate transporters and reduction in neuronal N-methyl-D-aspartate receptor activity.
Subunit / interactions. Interacts with the PTCH1 receptor.
Subcellular location. Cell membrane. Cell projection. Cilium membrane.
Tissue specificity. Expressed in primary cortical astrocytes (at protein level). Expressed in the central nervous system.
Post-translational modifications. O-glycosylated. Undergoes metalloprotease-mediated cleavage which reduces its constitutive activity. Ubiquitinated.
Domain organisation. The N-terminal region is required for constitutive signal transduction.
Similarity. Belongs to the G-protein coupled receptor 1 family.
RefSeq proteins (1): NP_004758* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000276 | GPCR_Rhodpsn | Family |
| IPR003909 | GPR37_orph | Family |
| IPR017452 | GPCR_Rhodpsn_7TM | Domain |
Pfam: PF00001
UniProt features (34 total): topological domain 8, transmembrane region 7, glycosylation site 6, sequence variant 4, region of interest 2, modified residue 2, sequence conflict 2, signal peptide 1, chain 1, disulfide bond 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O60883-F1 | 67.95 | 0.19 |
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 (2): 471, 479
Disulfide bonds (1): 203–286
Glycosylation sites (6): 79, 85, 86, 95, 105, 107
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-375276 | Peptide ligand-binding receptors |
| R-HSA-418594 | G alpha (i) signalling events |
MSigDB gene sets: 137 (showing top):
GOBP_HINDBRAIN_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_NEURON_DIFFERENTIATION, MYOGENIN_Q6, GOBP_REGULATION_OF_BLOOD_PRESSURE, PAX4_01, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_NEGATIVE_REGULATION_OF_GLIOGENESIS, GCANCTGNY_MYOD_Q6, GOBP_NEGATIVE_REGULATION_OF_GLIAL_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_SYSTEMIC_ARTERIAL_BLOOD_PRESSURE, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND
GO Biological Process (12): negative regulation of systemic arterial blood pressure (GO:0003085), adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway (GO:0007193), smoothened signaling pathway (GO:0007224), positive regulation of cerebellar granule cell precursor proliferation (GO:0021940), cellular response to reactive oxygen species (GO:0034614), positive regulation of MAPK cascade (GO:0043410), negative regulation of neuron differentiation (GO:0045665), negative regulation of smoothened signaling pathway (GO:0045879), negative regulation of astrocyte differentiation (GO:0048712), Bergmann glial cell differentiation (GO:0060020), signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186)
GO Molecular Function (5): G protein-coupled receptor activity (GO:0004930), G protein-coupled peptide receptor activity (GO:0008528), prosaposin receptor activity (GO:0036505), peptide binding (GO:0042277), protein binding (GO:0005515)
GO Cellular Component (5): plasma membrane (GO:0005886), membrane (GO:0016020), signaling receptor complex (GO:0043235), ciliary membrane (GO:0060170), cell projection (GO:0042995)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Class A/1 (Rhodopsin-like receptors) | 1 |
| GPCR downstream signalling | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| G protein-coupled receptor activity | 3 |
| astrocyte differentiation | 2 |
| binding | 2 |
| cellular anatomical structure | 2 |
| regulation of systemic arterial blood pressure | 1 |
| negative regulation of blood pressure | 1 |
| adenylate cyclase-modulating G protein-coupled receptor signaling pathway | 1 |
| adenylate cyclase inhibitor activity | 1 |
| cell surface receptor signaling pathway | 1 |
| cerebellar granule cell precursor proliferation | 1 |
| regulation of cerebellar granule cell precursor proliferation | 1 |
| positive regulation of neural precursor cell proliferation | 1 |
| response to reactive oxygen species | 1 |
| cellular response to oxidative stress | 1 |
| cellular response to oxygen-containing compound | 1 |
| MAPK cascade | 1 |
| regulation of MAPK cascade | 1 |
| positive regulation of intracellular signal transduction | 1 |
| neuron differentiation | 1 |
| negative regulation of cell differentiation | 1 |
| regulation of neuron differentiation | 1 |
| smoothened signaling pathway | 1 |
| regulation of smoothened signaling pathway | 1 |
| negative regulation of signal transduction | 1 |
| negative regulation of glial cell differentiation | 1 |
| regulation of astrocyte differentiation | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| signal transduction | 1 |
| transmembrane signaling receptor activity | 1 |
| G protein-coupled receptor signaling pathway | 1 |
| peptide receptor activity | 1 |
| membrane | 1 |
| cell periphery | 1 |
| protein-containing complex | 1 |
| cilium | 1 |
| cell projection membrane | 1 |
Protein interactions and networks
STRING
1107 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GPR37L1 | PSAP | P07292 | 868 |
| GPR37L1 | HEPACAM | Q14CZ8 | 520 |
| GPR37L1 | GRM8 | O00222 | 511 |
| GPR37L1 | PTPRZ1 | P23471 | 497 |
| GPR37L1 | BDKRB1 | P46663 | 494 |
| GPR37L1 | BDKRB2 | P30411 | 470 |
| GPR37L1 | HTR2A | P28223 | 425 |
| GPR37L1 | HTR5A | P47898 | 419 |
| GPR37L1 | NTRK2 | Q16620 | 413 |
| GPR37L1 | GPR37 | O15354 | 410 |
| GPR37L1 | IQCE | Q6IPM2 | 391 |
| GPR37L1 | NACC2 | Q96BF6 | 379 |
| GPR37L1 | FGFR3 | P22607 | 364 |
| GPR37L1 | TOM1L1 | O75674 | 362 |
| GPR37L1 | SFXN5 | Q8TD22 | 361 |
| GPR37L1 | DRAM2 | Q6UX65 | 361 |
IntAct
164 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| JAGN1 | GPR37L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM147 | GPR37L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FXYD3 | GPR37L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR37L1 | FFAR2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM54 | GPR37L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR37L1 | CLEC2A | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR37L1 | STOM | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR37L1 | PDCD1LG2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR37L1 | AQP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR37L1 | RPRM | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR37L1 | TMEM52B | psi-mi:“MI:0915”(physical association) | 0.560 |
| ADGRB3 | GPR37L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR37L1 | TMEM54 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR37L1 | TMEM97 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR37L1 | TMEM86A | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR42 | GPR37L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR37L1 | ERG28 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR37L1 | UPK1B | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR37L1 | FAM209A | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR37L1 | ARL13B | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR37L1 | CLDN7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR37L1 | JAGN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR37L1 | SEC22A | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR37L1 | RNF122 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR37L1 | INSIG2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR37L1 | GPX8 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (57): GPR37L1 (Two-hybrid), GPR37L1 (Two-hybrid), GPR37L1 (Two-hybrid), GPR37L1 (Two-hybrid), GPR37L1 (Two-hybrid), GPR37L1 (Two-hybrid), GPR37L1 (Two-hybrid), GPR37L1 (Two-hybrid), GPR37L1 (Two-hybrid), GPR37L1 (Two-hybrid), GPR37L1 (Two-hybrid), GPR37L1 (Two-hybrid), GPR37L1 (Two-hybrid), GPR37L1 (Two-hybrid), GPR37L1 (Two-hybrid)
ESM2 similar proteins: A2BGS3, A6NGA9, E7F594, O36364, O60478, O60883, O95800, O95838, P03208, P16849, P31389, P34590, P35367, P49219, Q03613, Q09351, Q09964, Q09965, Q14439, Q16950, Q16951, Q2KI97, Q3U3F9, Q5FVG1, Q5IXF8, Q5UAW9, Q60755, Q64017, Q66615, Q66H29, Q6P7G9, Q6SW98, Q6X632, Q7TSN5, Q7TSN6, Q80W35, Q80WT4, Q8BNQ3, Q8C206, Q8CIM5
Diamond homologs: A0T2N3, B0F9W3, B3G515, E9QJ73, F1MV99, O00590, O08707, O08858, O09027, O15218, O43613, O55197, O60883, O89039, O97666, P11613, P21109, P25106, P28646, P30872, P30873, P30935, P30936, P30937, P30938, P31391, P31392, P32745, P35346, P35414, P43142, P46092, P48145, P48146, P49660, P49681, P55919, P56479, P56485, P58825
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
80 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 74 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
507 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:202127727:C:G | acceptor_gain | 1.0000 |
| 1:202127728:ATCCT:A | acceptor_gain | 1.0000 |
| 1:202127729:T:G | acceptor_gain | 1.0000 |
| 1:202128517:G:GT | donor_gain | 1.0000 |
| 1:202123590:GGAG:G | donor_gain | 0.9900 |
| 1:202123591:GAG:G | donor_gain | 0.9900 |
| 1:202123591:GAGG:G | donor_gain | 0.9900 |
| 1:202123592:AGGT:A | donor_loss | 0.9900 |
| 1:202123594:G:GA | donor_loss | 0.9900 |
| 1:202123594:G:GG | donor_gain | 0.9900 |
| 1:202127726:A:AG | acceptor_gain | 0.9900 |
| 1:202127728:A:AG | acceptor_gain | 0.9900 |
| 1:202127732:T:A | acceptor_gain | 0.9900 |
| 1:202127735:CCACA:C | acceptor_loss | 0.9900 |
| 1:202127736:CACAG:C | acceptor_loss | 0.9900 |
| 1:202127737:ACAGG:A | acceptor_loss | 0.9900 |
| 1:202127738:CA:C | acceptor_loss | 0.9900 |
| 1:202127739:A:G | acceptor_loss | 0.9900 |
| 1:202124134:G:GT | donor_gain | 0.9800 |
| 1:202128517:G:T | donor_gain | 0.9800 |
| 1:202123562:AC:A | donor_gain | 0.9600 |
| 1:202123589:TGGAG:T | donor_gain | 0.9600 |
| 1:202123590:GGAGG:G | donor_gain | 0.9600 |
| 1:202127739:A:AG | acceptor_gain | 0.9600 |
| 1:202127740:G:GG | acceptor_gain | 0.9600 |
| 1:202128518:G:T | donor_gain | 0.9600 |
| 1:202123551:GCTAC:G | donor_gain | 0.9500 |
| 1:202127740:GGTCT:G | acceptor_gain | 0.9500 |
| 1:202124103:C:A | donor_gain | 0.9400 |
| 1:202128482:G:GT | donor_gain | 0.9400 |
AlphaMissense
3093 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:202127768:A:C | S220R | 0.999 |
| 1:202127770:C:A | S220R | 0.999 |
| 1:202127770:C:G | S220R | 0.999 |
| 1:202123474:A:C | S171R | 0.998 |
| 1:202123476:C:A | S171R | 0.998 |
| 1:202123476:C:G | S171R | 0.998 |
| 1:202128072:C:G | P321R | 0.997 |
| 1:202128044:T:A | W312R | 0.996 |
| 1:202128044:T:C | W312R | 0.996 |
| 1:202128072:C:A | P321H | 0.996 |
| 1:202123570:T:A | C203S | 0.995 |
| 1:202123571:G:A | C203Y | 0.995 |
| 1:202123571:G:C | C203S | 0.995 |
| 1:202127753:G:A | G215R | 0.995 |
| 1:202127753:G:C | G215R | 0.995 |
| 1:202127882:G:C | G258R | 0.995 |
| 1:202127904:C:A | P265H | 0.995 |
| 1:202128056:T:C | C316R | 0.995 |
| 1:202128065:T:C | C319R | 0.995 |
| 1:202123393:G:C | G144R | 0.994 |
| 1:202127774:T:C | C222R | 0.994 |
| 1:202127876:T:A | W256R | 0.994 |
| 1:202127876:T:C | W256R | 0.994 |
| 1:202127883:G:A | G258D | 0.994 |
| 1:202123570:T:C | C203R | 0.993 |
| 1:202127886:C:A | S259Y | 0.993 |
| 1:202127904:C:G | P265R | 0.993 |
| 1:202128041:T:A | W311R | 0.993 |
| 1:202128041:T:C | W311R | 0.993 |
| 1:202128054:G:A | G315D | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1000000921 (1:202122461 A>C), RS1000115168 (1:202122135 G>A), RS1000115749 (1:202125881 C>T), RS1000299850 (1:202133299 C>T), RS1000415742 (1:202133576 A>G), RS1001004612 (1:202123709 G>A), RS1001376596 (1:202129434 C>T), RS1001635534 (1:202126464 C>T), RS1001976227 (1:202132002 C>T), RS1002062672 (1:202129675 C>T), RS1002089310 (1:202132255 C>T), RS1002521381 (1:202133773 T>C), RS1002720882 (1:202133437 T>C,G), RS1002756580 (1:202130191 C>T), RS1003163718 (1:202122728 C>T)
Disease associations
OMIM: gene MIM:617630 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): primary amenorrhea (MONDO:1060208)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006479_11 | Diverticular disease | 7.000000e-06 |
| GCST007335_2 | Age at first sexual intercourse | 4.000000e-08 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009959 | diverticular disease |
| EFO:0009749 | age at first sexual intercourse measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5892 (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 emerging pharmacology
Most potent curated ligand interactions (1 total), top 1:
| Ligand | Action | Affinity | Parameter |
|---|---|---|---|
| prosaptide | Agonist | 8.3 | pEC50 |
CTD chemical–gene interactions
21 total (human), top 21 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation | 2 |
| sotorasib | affects cotreatment, increases expression | 1 |
| propionaldehyde | increases expression | 1 |
| sulforaphane | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment | 1 |
| abrine | increases expression | 1 |
| trametinib | affects cotreatment, increases expression | 1 |
| NVP-BKM120 | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Calcitriol | increases expression, affects cotreatment | 1 |
| Folic Acid | decreases expression | 1 |
| Lipopolysaccharides | increases expression, affects response to substance, affects cotreatment | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Testosterone | affects cotreatment, increases expression | 1 |
| Dronabinol | increases expression | 1 |
| Thiram | increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Okadaic Acid | increases expression | 1 |
ChEMBL screening assays
3 unique, capped per target: 2 binding, 1 functional
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4883450 | Binding | PRESTO-Tango GPCRome screening (GPR37L1) | Data for DCP probe UCSF924 |
| CHEMBL977827 | Functional | Antagonist activity at ETB receptor | Antifungal substances against pathogenic fungi, talaroconvolutins, from talaromyces convolutus. — J Nat Prod |
Cellosaurus cell lines
1 cell lines: 1 spontaneously immortalized cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_KX61 | PathHunter CHO-K1 GPR37L1 beta-arrestin | Spontaneously immortalized cell line | Female |
Clinical trials (associated diseases)
1 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT07164248 | Not specified | COMPLETED | Evaluation of Bone Mineral Density Indications and Outcomes in Female Adolescents: Implications for Early Detection of Osteopenia/Osteoporosis and Gynecologic Practice |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): primary amenorrhea