GPR155
gene geneOn this page
Also known as DEP.7PGR22DEPDC3LYCHOSFLJ31819
Summary
GPR155 (G protein-coupled receptor 155, HGNC:22951) is a protein-coding gene on chromosome 2q31.1, encoding Lysosomal cholesterol signaling protein (Q7Z3F1). Cholesterol-binding protein that acts as a regulator of mTORC1 signaling pathway.
Enables cholesterol binding activity. Involved in several processes, including cellular response to amino acid starvation; cellular response to cholesterol; and positive regulation of TORC1 signaling. Located in extracellular exosome. Is active in lysosomal membrane.
Source: NCBI Gene 151556 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 126 total
- MANE Select transcript:
NM_152529
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:22951 |
| Approved symbol | GPR155 |
| Name | G protein-coupled receptor 155 |
| Location | 2q31.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DEP.7, PGR22, DEPDC3, LYCHOS, FLJ31819 |
| Ensembl gene | ENSG00000163328 |
| Ensembl biotype | protein_coding |
| OMIM | 620855 |
| Entrez | 151556 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 17 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000295500, ENST00000392551, ENST00000392552, ENST00000459996, ENST00000497620, ENST00000614352, ENST00000886491, ENST00000886492, ENST00000886493, ENST00000932232, ENST00000932233, ENST00000949639, ENST00000949640, ENST00000949641, ENST00000949642, ENST00000949643, ENST00000949644, ENST00000949645, ENST00000949646
RefSeq mRNA: 4 — MANE Select: NM_152529
NM_001033045, NM_001267050, NM_001267051, NM_152529
CCDS: CCDS2259, CCDS74605
Canonical transcript exons
ENST00000392552 — 16 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001073359 | 174459878 | 174460088 |
| ENSE00001073362 | 174446611 | 174446747 |
| ENSE00001073365 | 174466544 | 174466627 |
| ENSE00001073368 | 174453737 | 174453841 |
| ENSE00001274952 | 174486873 | 174487029 |
| ENSE00002461373 | 174470390 | 174470555 |
| ENSE00002463935 | 174461402 | 174461492 |
| ENSE00002485287 | 174472965 | 174473364 |
| ENSE00002498189 | 174465785 | 174465902 |
| ENSE00002520336 | 174468912 | 174469067 |
| ENSE00002528926 | 174461588 | 174461672 |
| ENSE00002725526 | 174481497 | 174481987 |
| ENSE00003533382 | 174439898 | 174440035 |
| ENSE00003547554 | 174442119 | 174442183 |
| ENSE00003614704 | 174445081 | 174445176 |
| ENSE00003748476 | 174431571 | 174436416 |
Expression profiles
Bgee: expression breadth ubiquitous, 251 present calls, max score 97.73.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.5945 / max 833.6688, expressed in 1354 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 31865 | 10.0624 | 1344 |
| 31864 | 0.5321 | 239 |
Top tissues by expression
259 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| dorsal root ganglion | UBERON:0000044 | 97.73 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 97.62 | gold quality |
| kidney epithelium | UBERON:0004819 | 94.69 | gold quality |
| cardia of stomach | UBERON:0001162 | 94.31 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 93.82 | gold quality |
| cerebellar vermis | UBERON:0004720 | 92.77 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 91.78 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 91.67 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 91.45 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 91.35 | gold quality |
| parietal lobe | UBERON:0001872 | 90.86 | gold quality |
| upper leg skin | UBERON:0004262 | 90.81 | gold quality |
| endothelial cell | CL:0000115 | 90.64 | gold quality |
| postcentral gyrus | UBERON:0002581 | 90.36 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 90.06 | gold quality |
| entorhinal cortex | UBERON:0002728 | 89.90 | gold quality |
| medulla oblongata | UBERON:0001896 | 89.89 | gold quality |
| upper arm skin | UBERON:0004263 | 89.88 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 89.73 | gold quality |
| pons | UBERON:0000988 | 89.39 | gold quality |
| nipple | UBERON:0002030 | 88.63 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 88.05 | gold quality |
| occipital lobe | UBERON:0002021 | 87.95 | gold quality |
| body of stomach | UBERON:0001161 | 87.89 | gold quality |
| corpus epididymis | UBERON:0004359 | 87.83 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 87.71 | gold quality |
| fundus of stomach | UBERON:0001160 | 87.56 | gold quality |
| renal medulla | UBERON:0000362 | 87.36 | gold quality |
| stomach | UBERON:0000945 | 87.14 | gold quality |
| ventral tegmental area | UBERON:0002691 | 86.82 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-11 | yes | 25.99 |
| E-MTAB-8410 | yes | 22.18 |
| E-CURD-46 | yes | 11.41 |
| E-ANND-3 | yes | 5.56 |
| E-MTAB-6386 | no | 134.52 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
192 targeting GPR155, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-223-3P | 99.99 | 70.14 | 1140 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
Literature-anchored findings (GeneRIF, showing 4)
- GPR155 may represent a biomarker for diagnosing and predicting hematogenous metastasis of gastric cancer. (PMID:28165032)
- Downregulation of GPR155 may serve as a prognosticator that also predicts initial recurrence sites independent of hepatitis virus infection. (PMID:28863781)
- Lysosomal GPCR-like protein LYCHOS signals cholesterol sufficiency to mTORC1. (PMID:36007018)
- Circular RNA hsa_circ_0094976 modulates GPR155 to inhibit gastric adenocarcinoma malignant characteristics by targeting miR-223-3p. (PMID:38678850)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gpr155b | ENSDARG00000071086 |
| danio_rerio | gpr155a | ENSDARG00000090804 |
| mus_musculus | Gpr155 | ENSMUSG00000041762 |
| rattus_norvegicus | Gpr155 | ENSRNOG00000018485 |
| drosophila_melanogaster | anchor | FBGN0036741 |
Paralogs (3): PREX2 (ENSG00000046889), PREX1 (ENSG00000124126), DEPTOR (ENSG00000155792)
Protein
Protein identifiers
Lysosomal cholesterol signaling protein — Q7Z3F1 (reviewed: Q7Z3F1)
Alternative names: G-protein coupled receptor PGR22
All UniProt accessions (2): A0A087WXK4, Q7Z3F1
UniProt curated annotations — full annotation on UniProt →
Function. Cholesterol-binding protein that acts as a regulator of mTORC1 signaling pathway. Acts as a sensor of cholesterol to signal cholesterol sufficiency to mTORC1: in presence of cholesterol, binds cholesterol, leading to disruption of the interaction between the GATOR1 and KICSTOR complexes and promotion of mTORC1 signaling. Upon cholesterol starvation, GPR155/LYCHOS is unable to perturb the association between GATOR1 and KICSTOR, leading to mTORC1 signaling inhibition. Binds indole-3-acetic acid and may play a role in tryptophan metabolism.
Subunit / interactions. Homodimer; via the transporter region and DEP domain. Interacts with the GATOR1 complex and prevents interaction between GATOR1 and KICSTOR; this interaction is disrupted upon cholesterol starvation.
Subcellular location. Lysosome membrane.
Domain organisation. Cholesterol binds at the interface between the PIN-like transporter region and the GPCR domain; these two regions likely coordinate to sense cholesterol and regulate mTORC1 activation.
RefSeq proteins (4): NP_001028217, NP_001253979, NP_001253980, NP_689742* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000591 | DEP_dom | Domain |
| IPR004776 | Mem_transp_PIN-like | Family |
| IPR036388 | WH-like_DNA-bd_sf | Homologous_superfamily |
| IPR036390 | WH_DNA-bd_sf | Homologous_superfamily |
| IPR037368 | GPR155_DEP | Domain |
| IPR051832 | mTOR-Rac_regulators | Family |
Pfam: PF00610, PF03547
UniProt features (120 total): helix 35, topological domain 18, transmembrane region 17, mutagenesis site 14, sequence conflict 9, strand 7, binding site 6, turn 5, glycosylation site 5, region of interest 2, chain 1, domain 1
Structure
Experimental structures (PDB)
23 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8Z8Z | ELECTRON MICROSCOPY | 2.11 |
| 8U5Q | ELECTRON MICROSCOPY | 2.4 |
| 8U58 | ELECTRON MICROSCOPY | 2.45 |
| 8U54 | ELECTRON MICROSCOPY | 2.65 |
| 8U5C | ELECTRON MICROSCOPY | 2.68 |
| 9JBH | ELECTRON MICROSCOPY | 2.73 |
| 8U56 | ELECTRON MICROSCOPY | 2.75 |
| 8U5V | ELECTRON MICROSCOPY | 2.77 |
| 8U5X | ELECTRON MICROSCOPY | 2.79 |
| 9LHV | ELECTRON MICROSCOPY | 2.79 |
| 8Y56 | ELECTRON MICROSCOPY | 2.83 |
| 8U5N | ELECTRON MICROSCOPY | 3 |
| 8WR3 | ELECTRON MICROSCOPY | 3.1 |
| 9JBF | ELECTRON MICROSCOPY | 3.21 |
| 9J3X | ELECTRON MICROSCOPY | 3.3 |
| 9JBE | ELECTRON MICROSCOPY | 3.31 |
| 9J40 | ELECTRON MICROSCOPY | 3.4 |
| 9LHQ | ELECTRON MICROSCOPY | 3.46 |
| 9J3Z | ELECTRON MICROSCOPY | 3.5 |
| 9JBJ | ELECTRON MICROSCOPY | 3.73 |
| 9JBG | ELECTRON MICROSCOPY | 3.76 |
| 9JBI | ELECTRON MICROSCOPY | 4.49 |
| 9LHX | ELECTRON MICROSCOPY | 5.62 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q7Z3F1-F1 | 73.51 | 0.27 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (6): 43; 57; 266; 267; 268; 657
Glycosylation sites (5): 9, 15, 29, 309, 381
Mutagenesis-validated functional residues (14):
| Position | Phenotype |
|---|---|
| 43–44 | nearly abolished cholesterol-binding. |
| 43 | strongly reduced cholesterol-binding. |
| 48 | does not affect cholesterol-binding. |
| 57 | strongly reduced cholesterol-binding. abolishes cholesterol-dependent mtorc1 activity. |
| 145 | reduces binding to indole-3-acetic acid. |
| 148 | reduces binding to indole-3-acetic acid. |
| 177 | reduces binding to indole-3-acetic acid. |
| 352 | abolishes the effect of cholesterol depletion in mtorc1 activity. abolishes the effect of cholesterol depletion in mtorc |
| 551 | abolished ability to regulate mtorc1. |
| 595 | in 4ca, abolished ability to regulate mtorc1; when associated with a-604, a-629 and a-638. |
| 604 | in 4ca, abolished ability to regulate mtorc1; when associated with a-595, a-629 and a-638. |
| 629 | in 4ca, abolished ability to regulate mtorc1; when associated with a-595, a-604 and a-638. |
| 638 | in 4ca, abolished ability to regulate mtorc1; when associated with a-595, a-604 and a-629. |
| 678 | abolishes the effect of cholestrol depletion in mtorc1 activity; when associated with a-352. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 261 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GSE45365_NK_CELL_VS_CD8_TCELL_UP, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_COGNITION, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOCC_VACUOLAR_MEMBRANE, GOBP_POSITIVE_REGULATION_OF_TOR_SIGNALING, RACCACAR_AML_Q6, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY, GOBP_RESPONSE_TO_STEROL, GATA6_01, INGRAM_SHH_TARGETS_UP, GOBP_NEGATIVE_REGULATION_OF_BMP_SIGNALING_PATHWAY
GO Biological Process (15): negative regulation of BMP signaling pathway (GO:0030514), cellular response to amino acid starvation (GO:0034198), intracellular signal transduction (GO:0035556), cognition (GO:0050890), transmembrane transport (GO:0055085), cellular response to cholesterol (GO:0071397), positive regulation of TORC1 signaling (GO:1904263), cytoplasmic translation (GO:0002181), protein-containing complex localization (GO:0031503), cellular response to nutrient levels (GO:0031669), TORC1 signaling (GO:0038202), negative regulation of translational initiation (GO:0045947), positive regulation of translational initiation (GO:0045948), protein localization to lysosome (GO:0061462), negative regulation of TORC1 signaling (GO:1904262)
GO Molecular Function (2): cholesterol binding (GO:0015485), lipid binding (GO:0008289)
GO Cellular Component (4): lysosomal membrane (GO:0005765), extracellular exosome (GO:0070062), lysosome (GO:0005764), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| TORC1 signaling | 2 |
| regulation of TORC1 signaling | 2 |
| translational initiation | 2 |
| regulation of translational initiation | 2 |
| BMP signaling pathway | 1 |
| regulation of BMP signaling pathway | 1 |
| negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 1 |
| negative regulation of cellular response to growth factor stimulus | 1 |
| cellular response to starvation | 1 |
| response to amino acid starvation | 1 |
| intracellular anatomical structure | 1 |
| signal transduction | 1 |
| nervous system process | 1 |
| transport | 1 |
| cellular process | 1 |
| cellular response to sterol | 1 |
| response to cholesterol | 1 |
| cellular response to alcohol | 1 |
| positive regulation of TOR signaling | 1 |
| translation | 1 |
| macromolecule localization | 1 |
| response to nutrient levels | 1 |
| cellular response to stimulus | 1 |
| TOR signaling | 1 |
| negative regulation of translation | 1 |
| positive regulation of translation | 1 |
| protein localization to vacuole | 1 |
| negative regulation of TOR signaling | 1 |
| sterol binding | 1 |
| alcohol binding | 1 |
| binding | 1 |
| lysosome | 1 |
| lytic vacuole membrane | 1 |
| extracellular vesicle | 1 |
| lytic vacuole | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
532 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GPR155 | JAKMIP1 | Q96N16 | 521 |
| GPR155 | MTCL2 | O94964 | 519 |
| GPR155 | GPR137B | O60478 | 483 |
| GPR155 | TTC29 | Q8NA56 | 453 |
| GPR155 | GPR137 | Q96N19 | 450 |
| GPR155 | GPRC5C | Q9NQ84 | 444 |
| GPR155 | MORN5 | Q5VZ52 | 412 |
| GPR155 | ZMYND15 | Q9H091 | 399 |
| GPR155 | SCNM1 | Q9BWG6 | 385 |
| GPR155 | RIBC1 | Q8N443 | 384 |
| GPR155 | GPR152 | Q8TDT2 | 382 |
| GPR155 | SLC60A1 | Q8N468 | 377 |
| GPR155 | ZFYVE26 | Q68DK2 | 375 |
| GPR155 | GPR82 | Q96P67 | 366 |
| GPR155 | CYFIP1 | Q7L576 | 365 |
IntAct
7 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FPR2 | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
| FPR2 | SCAMP3 | psi-mi:“MI:0914”(association) | 0.350 |
| NIPAL3 | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| SLC16A8 | C15orf61 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC35C2 | PGRMC1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (7): GPR155 (Affinity Capture-MS), GPR155 (Proximity Label-MS), GPR155 (Proximity Label-MS), GPR155 (Affinity Capture-MS), GPR155 (Affinity Capture-MS), GPR155 (Affinity Capture-MS), GPR155 (Affinity Capture-MS)
ESM2 similar proteins: A0A452G813, A0A8V0ZB02, A1L3G9, A2AWR3, A9LIW2, B6HTR9, D3ZNF5, F4I248, F4JCY2, O35379, O57428, O94886, O94911, P08983, Q059Y8, Q06538, Q09427, Q09428, Q09429, Q17JQ7, Q3KTM2, Q3TWI9, Q4R7U0, Q4V8U5, Q5GH22, Q5GH60, Q5GH68, Q5R826, Q5R9A7, Q5T3F8, Q5YCC5, Q6NP91, Q6PP77, Q6UR05, Q7Q5R7, Q7Z3F1, Q7Z402, Q8C428, Q8CBX0, Q8CG09
Diamond homologs: A2AWR3, Q0CHV5, Q3LAC4, Q4PE51, Q570Y9, Q5R9A7, Q69ZK0, Q6CWI2, Q70Z35, Q7Z3F1, Q8TB45, Q8TCU6, Q8WZA2, Q9EQZ6, A1IGU3, A1IGU4, A3LRB2, E2RP94, E7F1U2, M0R4F8, O43307, P47170, P91620, P91621, Q1E9Q9, Q3UTH8, Q58DL7, Q5DU57, Q5RDK0, Q60992, Q6CAP3, Q6KAU7, Q6TXD4, Q6XZF7, Q75DV2, Q7TNR9, Q80VK6, Q96N96, Q9NR80, Q9NXL2
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
126 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 103 |
| Likely benign | 5 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2937 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:174436171:T:A | donor_gain | 1.0000 |
| 2:174436251:AT:A | donor_gain | 1.0000 |
| 2:174436251:ATC:A | donor_gain | 1.0000 |
| 2:174436252:T:C | donor_gain | 1.0000 |
| 2:174439893:CTTA:C | donor_loss | 1.0000 |
| 2:174439894:TTA:T | donor_loss | 1.0000 |
| 2:174439895:TACC:T | donor_loss | 1.0000 |
| 2:174439897:CCTT:C | donor_gain | 1.0000 |
| 2:174440031:CAAGT:C | acceptor_gain | 1.0000 |
| 2:174440032:AAGTC:A | acceptor_loss | 1.0000 |
| 2:174440033:AGTC:A | acceptor_loss | 1.0000 |
| 2:174440034:GT:G | acceptor_gain | 1.0000 |
| 2:174440036:C:CC | acceptor_gain | 1.0000 |
| 2:174440036:CT:C | acceptor_loss | 1.0000 |
| 2:174440037:T:C | acceptor_loss | 1.0000 |
| 2:174442114:TTTA:T | donor_loss | 1.0000 |
| 2:174442115:TTACC:T | donor_loss | 1.0000 |
| 2:174442116:TAC:T | donor_loss | 1.0000 |
| 2:174442117:A:AG | donor_loss | 1.0000 |
| 2:174442118:CCT:C | donor_loss | 1.0000 |
| 2:174442118:CCTT:C | donor_gain | 1.0000 |
| 2:174442184:CTAG:C | acceptor_loss | 1.0000 |
| 2:174445116:A:C | donor_gain | 1.0000 |
| 2:174445121:A:C | donor_gain | 1.0000 |
| 2:174445132:T:TA | donor_gain | 1.0000 |
| 2:174445175:TT:T | acceptor_gain | 1.0000 |
| 2:174445177:C:CC | acceptor_gain | 1.0000 |
| 2:174446609:A:AC | donor_gain | 1.0000 |
| 2:174446610:C:CC | donor_gain | 1.0000 |
| 2:174459876:A:AC | donor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000060635 (2:174477227 T>A), RS1000125780 (2:174479254 G>C), RS1000134341 (2:174449976 A>AAAAAC), RS1000205208 (2:174455476 C>A,G), RS1000207357 (2:174488521 A>G), RS1000273868 (2:174455843 T>G), RS1000367531 (2:174443313 A>G), RS1000396655 (2:174435498 G>T), RS1000410496 (2:174476927 T>G), RS1000460554 (2:174449529 T>C,G), RS1000611131 (2:174454383 C>T), RS1000695103 (2:174442917 C>T), RS1000723238 (2:174440745 T>C), RS1000723877 (2:174465572 G>T), RS1000768619 (2:174447495 G>A)
Disease associations
OMIM: gene MIM:620855 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002827_3 | Urate levels (BMI interaction) | 1.000000e-07 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0004531 | urate measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
44 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 8 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Smoke | increases expression, decreases expression | 2 |
| Tretinoin | increases expression, decreases expression | 2 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| bisphenol A | affects cotreatment, increases expression | 1 |
| trichostatin A | affects expression | 1 |
| beta-lapachone | decreases expression | 1 |
| hydroquinone | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| entinostat | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 1 |
| beta-hydroxy simvastatin acid | increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Arbutin | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Vehicle Emissions | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Cisplatin | increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D9FR | Ubigene HEK293 GPR155 KO | Transformed 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.