ADGRL4
geneOn this page
Also known as ETL
Summary
ADGRL4 (adhesion G protein-coupled receptor L4, HGNC:20822) is a protein-coding gene on chromosome 1p31.1, encoding Adhesion G protein-coupled receptor L4 (Q9HBW9). Endothelial orphan receptor that acts as a key regulator of angiogenesis.
Predicted to enable G protein-coupled receptor activity. Predicted to be involved in adenylate cyclase-activating G protein-coupled receptor signaling pathway. Predicted to be located in cytoplasmic vesicle. Predicted to be active in plasma membrane. Biomarker of glioblastoma and hypertrophic cardiomyopathy.
Source: NCBI Gene 64123 — RefSeq curated summary.
At a glance
- GWAS associations: 34
- Clinical variants (ClinVar): 129 total
- Druggable target: yes
- MANE Select transcript:
NM_022159
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20822 |
| Approved symbol | ADGRL4 |
| Name | adhesion G protein-coupled receptor L4 |
| Location | 1p31.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ETL |
| Ensembl gene | ENSG00000162618 |
| Ensembl biotype | protein_coding |
| OMIM | 616419 |
| Entrez | 64123 |
Gene structure
Transcript identifiers
Ensembl transcripts: 23 — 16 protein_coding, 4 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay, 1 retained_intron
ENST00000370742, ENST00000401034, ENST00000640664, ENST00000655029, ENST00000656204, ENST00000656300, ENST00000656841, ENST00000659100, ENST00000659463, ENST00000659905, ENST00000661030, ENST00000661361, ENST00000662530, ENST00000662640, ENST00000662895, ENST00000664452, ENST00000671209, ENST00000870761, ENST00000870762, ENST00000870763, ENST00000954023, ENST00000954024, ENST00000954025
RefSeq mRNA: 1 — MANE Select: NM_022159
NM_022159
CCDS: CCDS41352
Canonical transcript exons
ENST00000370742 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001066948 | 78917634 | 78917700 |
| ENSE00001066955 | 78893098 | 78893189 |
| ENSE00001066961 | 78891524 | 78891692 |
| ENSE00001453511 | 78889764 | 78891216 |
| ENSE00001604519 | 79005070 | 79005219 |
| ENSE00001605048 | 78920183 | 78920386 |
| ENSE00001614417 | 78938100 | 78938279 |
| ENSE00001633254 | 78926886 | 78927091 |
| ENSE00001651406 | 78946274 | 78946426 |
| ENSE00001664982 | 78937807 | 78937990 |
| ENSE00001685557 | 78936295 | 78936411 |
| ENSE00001687024 | 78921613 | 78921786 |
| ENSE00001764197 | 78917830 | 78918050 |
| ENSE00001886600 | 79006633 | 79006730 |
| ENSE00003887835 | 78939188 | 78939258 |
Expression profiles
Bgee: expression breadth ubiquitous, 256 present calls, max score 97.25.
FANTOM5 (CAGE): breadth broad, TPM avg 10.8128 / max 351.0348, expressed in 836 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 12921 | 9.2387 | 795 |
| 12923 | 0.8564 | 392 |
| 12922 | 0.5165 | 278 |
| 12925 | 0.1483 | 59 |
| 12924 | 0.0528 | 22 |
Top tissues by expression
278 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pericardium | UBERON:0002407 | 97.25 | gold quality |
| visceral pleura | UBERON:0002401 | 97.18 | gold quality |
| parietal pleura | UBERON:0002400 | 97.17 | gold quality |
| pleura | UBERON:0000977 | 96.85 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 96.75 | gold quality |
| omental fat pad | UBERON:0010414 | 96.56 | gold quality |
| peritoneum | UBERON:0002358 | 96.53 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 96.50 | gold quality |
| adipose tissue | UBERON:0001013 | 96.18 | gold quality |
| connective tissue | UBERON:0002384 | 95.54 | gold quality |
| calcaneal tendon | UBERON:0003701 | 94.12 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 91.87 | gold quality |
| lower lobe of lung | UBERON:0008949 | 91.53 | gold quality |
| gall bladder | UBERON:0002110 | 91.40 | gold quality |
| vena cava | UBERON:0004087 | 91.35 | gold quality |
| mammary gland | UBERON:0001911 | 90.83 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 90.83 | gold quality |
| spleen | UBERON:0002106 | 90.29 | gold quality |
| heart right ventricle | UBERON:0002080 | 89.89 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 89.77 | gold quality |
| right lung | UBERON:0002167 | 89.76 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 89.41 | gold quality |
| skin of hip | UBERON:0001554 | 89.06 | gold quality |
| periodontal ligament | UBERON:0008266 | 88.97 | gold quality |
| colonic epithelium | UBERON:0000397 | 88.91 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 88.90 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 88.90 | gold quality |
| upper lobe of lung | UBERON:0008948 | 88.79 | gold quality |
| tendon | UBERON:0000043 | 88.69 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 88.60 | gold quality |
Single-cell (SCXA)
Detected in 25 experiment(s), a significant marker in 25.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8142 | yes | 1262.14 |
| E-CURD-7 | yes | 1096.54 |
| E-ENAD-21 | yes | 1050.25 |
| E-HCAD-15 | yes | 654.32 |
| E-ENAD-27 | yes | 642.85 |
| E-MTAB-5061 | yes | 468.19 |
| E-CURD-126 | yes | 377.05 |
| E-MTAB-10287 | yes | 81.17 |
| E-GEOD-135922 | yes | 47.03 |
| E-HCAD-11 | yes | 47.00 |
| E-GEOD-134144 | yes | 46.09 |
| E-MTAB-10553 | yes | 45.68 |
| E-HCAD-1 | yes | 40.94 |
| E-HCAD-10 | yes | 39.13 |
| E-MTAB-6701 | yes | 36.98 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
84 targeting ADGRL4, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-12133 | 99.92 | 71.82 | 2006 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-1271-5P | 99.91 | 71.99 | 1972 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-4503 | 99.85 | 71.45 | 1869 |
| HSA-MIR-5003-3P | 99.85 | 69.29 | 2517 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
| HSA-MIR-548BC | 99.82 | 70.61 | 3524 |
| HSA-MIR-548E-3P | 99.82 | 70.59 | 3514 |
| HSA-MIR-548F-3P | 99.82 | 70.59 | 3540 |
| HSA-MIR-4420 | 99.82 | 70.08 | 1624 |
| HSA-MIR-6844 | 99.82 | 70.69 | 2423 |
| HSA-MIR-181B-2-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-181B-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-139-5P | 99.80 | 69.50 | 1399 |
Literature-anchored findings (GeneRIF, showing 13)
- Genes such as ELTD1 on chromosome 1, in addition to genes on chromosomes 4 (eg, GABRA2) and 6 (eg, CNR1), may be associated with the genetic risk for cannabis use disorders. (PMID:18519829)
- Results of this study strongly suggests that associative analysis was able to accurately identify ELTD1 as a putative glioma-associated biomarker (PMID:23096411)
- Two of these (D1S0818i-ELTD1 and D6S0035i-MAPK14) remain associated following application of Bonferroni’s correction and multivariate analysis. (PMID:23474535)
- Results provide insight into the regulation of tumor angiogenesis and highlight ELTD1 as key player in blood vessel formation. (PMID:23871637)
- miR-139-5p suppresses glioblastoma multiforme cell proliferation by targeting ELTD1 and regulating cell cycle. (PMID:26449464)
- High ELTD1 expression is associated with glioma. (PMID:27416955)
- ELTD1 facilitates glioma proliferation, migration and invasion by activating JAK/STAT3/HIF-1alpha signaling axis. (PMID:31554859)
- Adhesion G protein-coupled receptor, ELTD1, is a potential therapeutic target for retinoblastoma migration and invasion. (PMID:33430814)
- Elevated expression of the adhesion GPCR ADGRL4/ELTD1 promotes endothelial sprouting angiogenesis without activating canonical GPCR signalling. (PMID:33893326)
- ELTD1 deletion reduces vascular abnormality and improves T-cell recruitment after PD-1 blockade in glioma. (PMID:34347079)
- ADGRL4/ELTD1 Expression in Breast Cancer Cells Induces Vascular Normalization and Immune Suppression. (PMID:34348993)
- ELTD1 promotes invasion and metastasis by activating MMP2 in colorectal cancer. (PMID:34421349)
- ELTD1 Activation Induces an Endothelial-EMT Transition to a Myofibroblast Phenotype. (PMID:34681953)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | adgrl4 | ENSDARG00000013653 |
| mus_musculus | Adgrl4 | ENSMUSG00000039167 |
| rattus_norvegicus | Adgrl4 | ENSRNOG00000033940 |
Paralogs (42): CALCR (ENSG00000004948), GIPR (ENSG00000010310), ADGRA2 (ENSG00000020181), CALCRL (ENSG00000064989), GLP2R (ENSG00000065325), ADGRF5 (ENSG00000069122), ADGRL1 (ENSG00000072071), ADCYAP1R1 (ENSG00000078549), SCTR (ENSG00000080293), VIPR2 (ENSG00000106018), CRHR2 (ENSG00000106113), GHRHR (ENSG00000106128), ADGRD1 (ENSG00000111452), GLP1R (ENSG00000112164), ADGRG6 (ENSG00000112414), VIPR1 (ENSG00000114812), ADGRL2 (ENSG00000117114), CRHR1 (ENSG00000120088), ADGRB2 (ENSG00000121753), ADGRE5 (ENSG00000123146), ADGRE2 (ENSG00000127507), ADGRE3 (ENSG00000131355), ADGRB3 (ENSG00000135298), PTH2R (ENSG00000144407), ADGRG7 (ENSG00000144820), ADGRL3 (ENSG00000150471), ADGRA3 (ENSG00000152990), ADGRF1 (ENSG00000153292), ADGRF4 (ENSG00000153294), ADGRG4 (ENSG00000156920), ADGRG5 (ENSG00000159618), PTH1R (ENSG00000160801), EVA1C (ENSG00000166979), ADGRF3 (ENSG00000173567), ADGRG2 (ENSG00000173698), ADGRE1 (ENSG00000174837), ADGRD2 (ENSG00000180264), ADGRB1 (ENSG00000181790), ADGRG3 (ENSG00000182885), ADGRA1 (ENSG00000197177)
Protein
Protein identifiers
Adhesion G protein-coupled receptor L4 — Q9HBW9 (reviewed: Q9HBW9)
Alternative names: EGF, latrophilin and seven transmembrane domain-containing protein 1, EGF-TM7-latrophilin-related protein
All UniProt accessions (10): A0A1W2PP07, Q9HBW9, A0A590UJ41, A0A590UJN9, A0A590UJS7, A0A590UJU5, A0A590UJX8, A0A590UK74, A0A590UK90, B1AR72
UniProt curated annotations — full annotation on UniProt →
Function. Endothelial orphan receptor that acts as a key regulator of angiogenesis.
Subunit / interactions. Heterodimer of 2 chains generated by proteolytic processing; the large extracellular N-terminal fragment and the membrane-bound C-terminal fragment predominantly remain associated and non-covalently linked.
Subcellular location. Cell membrane.
Tissue specificity. Detected in the majority of epithelial cells in tumor and normal tissues. Expressed also in human umbilical vein endothelial cells.
Post-translational modifications. Glycosylated. Proteolytically cleaved into 2 subunits, an extracellular alpha subunit and a seven-transmembrane subunit.
Domain organisation. The transmembrane domain is not required for cleavage, but it is required for dimer formation.
Induction. Up-regulated in tumor endothelial cells. Up-regulated by DLL4.
Similarity. Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily.
RefSeq proteins (1): NP_071442* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000152 | EGF-type_Asp/Asn_hydroxyl_site | PTM |
| IPR000203 | GPS | Conserved_site |
| IPR000742 | EGF | Domain |
| IPR000832 | GPCR_2_secretin-like | Family |
| IPR001881 | EGF-like_Ca-bd_dom | Domain |
| IPR017981 | GPCR_2-like_7TM | Domain |
| IPR017983 | GPCR_2_secretin-like_CS | Conserved_site |
| IPR018097 | EGF_Ca-bd_CS | Conserved_site |
| IPR032471 | AGRL2-4_GAIN_subdom_A | Domain |
| IPR046338 | GAIN_dom_sf | Homologous_superfamily |
| IPR049883 | NOTCH1_EGF-like | Domain |
| IPR057244 | GAIN_B | Domain |
Pfam: PF00002, PF01825, PF07645, PF16489
UniProt features (42 total): glycosylation site 9, topological domain 8, disulfide bond 8, transmembrane region 7, domain 3, sequence variant 3, signal peptide 1, chain 1, region of interest 1, site 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9QXL | ELECTRON MICROSCOPY | 3.14 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9HBW9-F1 | 81.09 | 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.
Catalytic / active sites (1): 406–407 (cleavage; by autolysis)
Disulfide bonds (8): 22–33, 27–42, 44–56, 62–75, 69–84, 86–107, 370–401, 389–403
Glycosylation sites (9): 21, 64, 74, 127, 177, 188, 249, 381, 395
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 126 (showing top):
GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, PICCALUGA_ANGIOIMMUNOBLASTIC_LYMPHOMA_UP, CUI_TCF21_TARGETS_2_DN, BOQUEST_STEM_CELL_DN, SCHUETZ_BREAST_CANCER_DUCTAL_INVASIVE_UP, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, SENESE_HDAC1_AND_HDAC2_TARGETS_UP, MODULE_470, GOMF_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY, WONG_ADULT_TISSUE_STEM_MODULE, FIGUEROA_AML_METHYLATION_CLUSTER_6_DN, CHYLA_CBFA2T3_TARGETS_UP, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_A, GOBP_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, PRC2_EED_DN.V1_UP
GO Biological Process (3): cell surface receptor signaling pathway (GO:0007166), G protein-coupled receptor signaling pathway (GO:0007186), signal transduction (GO:0007165)
GO Molecular Function (3): G protein-coupled receptor activity (GO:0004930), calcium ion binding (GO:0005509), transmembrane signaling receptor activity (GO:0004888)
GO Cellular Component (3): plasma membrane (GO:0005886), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| signal transduction | 2 |
| G protein-coupled receptor activity | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| transmembrane signaling receptor activity | 1 |
| G protein-coupled receptor signaling pathway | 1 |
| metal ion binding | 1 |
| signaling receptor activity | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
| cytoplasm | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
930 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ADGRL4 | EDNRA | P25101 | 575 |
| ADGRL4 | SCT | P09683 | 561 |
| ADGRL4 | DLL4 | Q9NR61 | 555 |
| ADGRL4 | EDNRB | P24530 | 552 |
| ADGRL4 | PTGFR | P43088 | 480 |
| ADGRL4 | MIGA1 | Q8NAN2 | 475 |
| ADGRL4 | MYCT1 | Q8N699 | 462 |
| ADGRL4 | ANKRD29 | Q8N6D5 | 455 |
| ADGRL4 | EMCN | Q9ULC0 | 454 |
| ADGRL4 | IFI44 | Q8TCB0 | 438 |
| ADGRL4 | TEX9 | Q8N6V9 | 404 |
| ADGRL4 | EDN1 | P05305 | 400 |
| ADGRL4 | ZZZ3 | Q8IYH5 | 400 |
| ADGRL4 | CCDC117 | Q8IWD4 | 390 |
| ADGRL4 | C10orf88 | Q9H8K7 | 382 |
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NPC1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (2): ELTD1 (Synthetic Lethality), ELTD1 (Affinity Capture-Western)
ESM2 similar proteins: A6QP74, O08893, O35659, O97148, P23811, P25107, P25117, P30082, P30083, P30988, P32214, P32215, P32241, P32301, P35000, P35464, P41586, P41587, P41588, P43220, P49190, P70205, P70555, P79222, P83120, Q09460, Q0P4Y4, Q16602, Q28992, Q29627, Q5FWI2, Q60755, Q63118, Q68EK2, Q7ZXS8, Q8AXU4, Q8WN93, Q90308, Q91085, Q91V95
Diamond homologs: A6QLU6, C0HL12, D4A3T6, E9Q4J9, G5ECX0, G5EDW2, O14514, O35161, O60242, O88278, O88917, O88923, O94910, O95490, O97817, O97827, O97831, P30083, P48960, Q14246, Q2Q421, Q2Q426, Q3UHD1, Q54MC6, Q58Y75, Q59I63, Q5T601, Q5Y4N8, Q61549, Q6F3F9, Q6QNK2, Q7SY09, Q7Z7M1, Q80T32, Q80TR1, Q80TS3, Q80ZF8, Q86SQ3, Q86SQ4, Q8IZF2
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
129 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 106 |
| Likely benign | 4 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2480 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:78891217:C:CC | acceptor_gain | 1.0000 |
| 1:78891217:CTAA:C | acceptor_loss | 1.0000 |
| 1:78891218:T:A | acceptor_loss | 1.0000 |
| 1:78891562:T:TA | donor_gain | 1.0000 |
| 1:78891563:C:A | donor_gain | 1.0000 |
| 1:78891564:C:A | donor_gain | 1.0000 |
| 1:78917825:CTTA:C | donor_loss | 1.0000 |
| 1:78917827:TA:T | donor_loss | 1.0000 |
| 1:78917828:A:AC | donor_gain | 1.0000 |
| 1:78917828:ACAC:A | donor_loss | 1.0000 |
| 1:78917829:C:CG | donor_gain | 1.0000 |
| 1:78917829:CA:C | donor_gain | 1.0000 |
| 1:78917829:CACT:C | donor_gain | 1.0000 |
| 1:78917829:CACTT:C | donor_gain | 1.0000 |
| 1:78918046:AAGAG:A | acceptor_gain | 1.0000 |
| 1:78918047:AGAG:A | acceptor_gain | 1.0000 |
| 1:78918048:GAG:G | acceptor_gain | 1.0000 |
| 1:78918048:GAGCT:G | acceptor_loss | 1.0000 |
| 1:78918049:AG:A | acceptor_gain | 1.0000 |
| 1:78918049:AGCTA:A | acceptor_loss | 1.0000 |
| 1:78918050:GCTAG:G | acceptor_loss | 1.0000 |
| 1:78918051:C:CC | acceptor_gain | 1.0000 |
| 1:78918051:CTAGA:C | acceptor_loss | 1.0000 |
| 1:78918059:C:CT | acceptor_gain | 1.0000 |
| 1:78918060:A:T | acceptor_gain | 1.0000 |
| 1:78938094:A:AC | donor_gain | 1.0000 |
| 1:78938095:C:CC | donor_gain | 1.0000 |
| 1:78938096:TTA:T | donor_loss | 1.0000 |
| 1:78938097:TA:T | donor_loss | 1.0000 |
| 1:78938098:A:AC | donor_gain | 1.0000 |
AlphaMissense
4563 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:78891643:A:G | W631R | 1.000 |
| 1:78891643:A:T | W631R | 1.000 |
| 1:78917993:A:G | W507R | 1.000 |
| 1:78917993:A:T | W507R | 1.000 |
| 1:78891565:C:A | G657W | 0.999 |
| 1:78891565:C:G | G657R | 0.999 |
| 1:78891565:C:T | G657R | 0.999 |
| 1:78891587:G:C | F649L | 0.999 |
| 1:78891587:G:T | F649L | 0.999 |
| 1:78891589:A:G | F649L | 0.999 |
| 1:78893184:A:C | N585K | 0.999 |
| 1:78893184:A:T | N585K | 0.999 |
| 1:78917661:A:C | F574L | 0.999 |
| 1:78917661:A:T | F574L | 0.999 |
| 1:78917663:A:G | F574L | 0.999 |
| 1:78917664:A:C | S573R | 0.999 |
| 1:78917664:A:T | S573R | 0.999 |
| 1:78917666:T:G | S573R | 0.999 |
| 1:78917694:C:A | W563C | 0.999 |
| 1:78917694:C:G | W563C | 0.999 |
| 1:78917696:A:G | W563R | 0.999 |
| 1:78917696:A:T | W563R | 0.999 |
| 1:78917699:A:G | C562R | 0.999 |
| 1:78917890:G:C | P541R | 0.999 |
| 1:78917890:G:T | P541Q | 0.999 |
| 1:78917892:G:C | S540R | 0.999 |
| 1:78917892:G:T | S540R | 0.999 |
| 1:78917894:T:G | S540R | 0.999 |
| 1:78917902:C:T | G537D | 0.999 |
| 1:78917968:A:G | L515P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000010971 (1:78901233 T>A), RS1000093521 (1:78980527 T>C), RS1000097858 (1:78932948 A>T), RS1000113063 (1:79000908 C>A), RS1000118557 (1:78963583 T>A), RS1000143808 (1:78984218 T>A), RS1000150551 (1:78935803 A>C), RS1000181936 (1:78923389 C>T), RS1000198781 (1:78974686 T>C), RS1000203982 (1:78895267 G>A), RS1000233555 (1:78953388 G>C), RS1000292984 (1:78968840 G>A,C), RS1000312197 (1:78907046 A>C,G,T), RS1000350607 (1:78968675 G>A,T), RS1000372134 (1:78929878 G>A,T)
Disease associations
OMIM: gene MIM:616419 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
34 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001166_6 | Aging (time to event) | 4.000000e-06 |
| GCST001877_8 | Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) | 4.000000e-06 |
| GCST002829_2 | Urate levels in overweight individuals | 9.000000e-06 |
| GCST002987_15 | Stroke | 7.000000e-07 |
| GCST003659_7 | Modified Stumvoll Insulin Sensitivity Index (BMI interaction) | 8.000000e-09 |
| GCST004001_9 | Bipolar disorder or attention deficit hyperactivity disorder | 4.000000e-07 |
| GCST004002_5 | Bipolar disorder (age of onset <21) or attention deficit hyperactivity disorder | 2.000000e-06 |
| GCST004613_51 | Sum neutrophil eosinophil counts | 2.000000e-11 |
| GCST004614_113 | Granulocyte count | 3.000000e-11 |
| GCST004620_1 | Sum basophil neutrophil counts | 4.000000e-10 |
| GCST004626_60 | Myeloid white cell count | 1.000000e-11 |
| GCST004629_9 | Neutrophil count | 3.000000e-10 |
| GCST004632_90 | Lymphocyte percentage of white cells | 7.000000e-09 |
| GCST005212_14 | Asthma | 5.000000e-06 |
| GCST006606_5 | Response to TNF inhibitor in rheumatoid arthritis (change in swollen 28-joint count) | 2.000000e-11 |
| GCST006609_6 | Response to TNF inhibitor in rheumatoid arthritis (change in tender 28-joint count) | 8.000000e-06 |
| GCST006904_14 | Cerebral amyloid deposition (PET imaging) | 8.000000e-06 |
| GCST007576_154 | Chronotype | 3.000000e-10 |
| GCST010396_39 | Gut microbiota (bacterial taxa, hurdle binary method) | 4.000000e-06 |
| GCST011741_72 | LDL cholesterol levels in HIV infection | 4.000000e-06 |
| GCST011741_8 | LDL cholesterol levels in HIV infection | 4.000000e-06 |
| GCST90000025_930 | Appendicular lean mass | 2.000000e-09 |
| GCST90002381_577 | Eosinophil count | 5.000000e-17 |
| GCST90002383_327 | Hematocrit | 2.000000e-12 |
| GCST90002384_2 | Hemoglobin | 2.000000e-09 |
| GCST90002388_649 | Lymphocyte count | 1.000000e-11 |
| GCST90002389_57 | Lymphocyte percentage of white cells | 4.000000e-27 |
| GCST90002393_34 | Monocyte count | 5.000000e-12 |
| GCST90002395_309 | Mean platelet volume | 5.000000e-09 |
| GCST90002398_486 | Neutrophil count | 3.000000e-23 |
EFO canonical traits (23, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0022597 | aging |
| EFO:0004531 | urate measurement |
| EFO:0004340 | body mass index |
| EFO:0004471 | insulin sensitivity measurement |
| EFO:0004833 | neutrophil count |
| EFO:0004842 | eosinophil count |
| EFO:0007987 | granulocyte count |
| EFO:0005090 | basophil count |
| EFO:0007993 | lymphocyte percentage of leukocytes |
| EFO:0004653 | response to TNF antagonist |
| EFO:0005413 | joint damage measurement |
| EFO:0007707 | cerebral amyloid deposition measurement |
| EFO:0008328 | chronotype measurement |
| EFO:0007874 | gut microbiome measurement |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0004980 | appendicular lean mass |
| EFO:0004348 | hematocrit |
| EFO:0004509 | hemoglobin measurement |
| EFO:0004587 | lymphocyte count |
| EFO:0005091 | monocyte count |
| EFO:0007990 | neutrophil percentage of leukocytes |
| EFO:0004305 | erythrocyte count |
| EFO:0009188 | Red cell distribution width |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4523920 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: gpcr — Adhesion Class GPCRs
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 7 |
| bisphenol A | affects cotreatment, decreases methylation, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| methylmercuric chloride | increases expression | 1 |
| ethyl-p-hydroxybenzoate | increases expression | 1 |
| trichostatin A | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| brequinar | increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| Sunitinib | decreases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Carbamazepine | affects expression | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
| Thiram | increases expression | 1 |
| Tretinoin | increases expression | 1 |
| Zinc | decreases expression | 1 |
| Sodium Selenite | increases expression | 1 |
| Particulate Matter | increases abundance, decreases expression | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4883367 | Binding | PRESTO-Tango GPCRome screening (ELTD1) | Data for DCP probe UCSF924 |
Cellosaurus cell lines
1 cell lines: 1 embryonic stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A8ZW | FAHZUe001-A | Embryonic stem cell | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): stroke disorder