DRG2
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Summary
DRG2 (developmentally regulated GTP binding protein 2, HGNC:3030) is a protein-coding gene on chromosome 17p11.2, encoding Developmentally-regulated GTP-binding protein 2 (P55039). Catalyzes the conversion of GTP to GDP through hydrolysis of the gamma-phosphate bond in GTP.
This gene encodes a GTP-binding protein known to function in the regulation of cell growth and differentiation. Read-through transcripts containing this gene and a downstream gene have been identified, but they are not thought to encode a fusion protein. This gene is located within the Smith-Magenis syndrome region on chromosome 17.
Source: NCBI Gene 1819 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 65 total — 1 pathogenic
- MANE Select transcript:
NM_001388
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:3030 |
| Approved symbol | DRG2 |
| Name | developmentally regulated GTP binding protein 2 |
| Location | 17p11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000108591 |
| Ensembl biotype | protein_coding |
| OMIM | 602986 |
| Entrez | 1819 |
Gene structure
Transcript identifiers
Ensembl transcripts: 34 — 18 protein_coding, 9 retained_intron, 7 nonsense_mediated_decay
ENST00000225729, ENST00000395726, ENST00000467099, ENST00000473213, ENST00000482564, ENST00000496428, ENST00000497744, ENST00000577450, ENST00000577771, ENST00000578173, ENST00000578767, ENST00000579224, ENST00000579601, ENST00000580055, ENST00000580929, ENST00000582314, ENST00000582419, ENST00000582528, ENST00000583162, ENST00000583355, ENST00000584212, ENST00000864160, ENST00000864161, ENST00000864162, ENST00000864163, ENST00000864164, ENST00000864165, ENST00000864166, ENST00000864167, ENST00000864168, ENST00000925712, ENST00000925714, ENST00000968692, ENST00000968693
RefSeq mRNA: 2 — MANE Select: NM_001388
NM_001330144, NM_001388
CCDS: CCDS11191, CCDS82082
Canonical transcript exons
ENST00000225729 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002371187 | 18107154 | 18107969 |
| ENSE00002701416 | 18087948 | 18088087 |
| ENSE00003494670 | 18099017 | 18099077 |
| ENSE00003499494 | 18101921 | 18101997 |
| ENSE00003507447 | 18103801 | 18103889 |
| ENSE00003576648 | 18101493 | 18101590 |
| ENSE00003593531 | 18100569 | 18100659 |
| ENSE00003596392 | 18104623 | 18104681 |
| ENSE00003628935 | 18106433 | 18106486 |
| ENSE00003648761 | 18099633 | 18099723 |
| ENSE00003650739 | 18093813 | 18093973 |
| ENSE00003662247 | 18098270 | 18098359 |
| ENSE00003669408 | 18100363 | 18100435 |
Expression profiles
Bgee: expression breadth ubiquitous, 251 present calls, max score 93.30.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 27.3530 / max 191.2047, expressed in 1802 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 159782 | 25.9208 | 1792 |
| 159781 | 0.9038 | 617 |
| 159783 | 0.5284 | 136 |
Top tissues by expression
281 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 93.30 | gold quality |
| right lobe of liver | UBERON:0001114 | 93.11 | gold quality |
| adenohypophysis | UBERON:0002196 | 92.70 | gold quality |
| apex of heart | UBERON:0002098 | 92.02 | gold quality |
| pituitary gland | UBERON:0000007 | 91.87 | gold quality |
| type B pancreatic cell | CL:0000169 | 91.84 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 91.81 | gold quality |
| body of uterus | UBERON:0009853 | 91.79 | gold quality |
| gastrocnemius | UBERON:0001388 | 91.70 | gold quality |
| right ovary | UBERON:0002118 | 91.53 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 91.49 | gold quality |
| olfactory bulb | UBERON:0002264 | 91.47 | gold quality |
| left ovary | UBERON:0002119 | 91.44 | gold quality |
| endocervix | UBERON:0000458 | 91.38 | gold quality |
| muscle of leg | UBERON:0001383 | 91.24 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 91.12 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 90.89 | gold quality |
| skin of leg | UBERON:0001511 | 90.83 | gold quality |
| lower esophagus | UBERON:0013473 | 90.82 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 90.82 | gold quality |
| left uterine tube | UBERON:0001303 | 90.73 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 90.73 | gold quality |
| right uterine tube | UBERON:0001302 | 90.69 | gold quality |
| metanephros cortex | UBERON:0010533 | 90.68 | gold quality |
| ectocervix | UBERON:0012249 | 90.66 | gold quality |
| mucosa of stomach | UBERON:0001199 | 90.58 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 90.58 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 90.56 | gold quality |
| skin of abdomen | UBERON:0001416 | 90.55 | gold quality |
| left adrenal gland | UBERON:0001234 | 90.49 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.91 |
| E-CURD-10 | no | 274.03 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): GLI1, SP1
miRNA regulators (miRDB)
38 targeting DRG2, 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-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-6740-5P | 100.00 | 65.64 | 932 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-1343-3P | 99.89 | 66.78 | 1815 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-6794-5P | 99.76 | 66.38 | 1048 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-7106-5P | 99.53 | 67.47 | 3574 |
| HSA-MIR-3612 | 99.45 | 66.02 | 1333 |
| HSA-MIR-650 | 99.45 | 65.77 | 1309 |
| HSA-MIR-6722-3P | 99.45 | 67.62 | 1919 |
| HSA-MIR-3182 | 99.40 | 68.15 | 2454 |
| HSA-MIR-4652-3P | 99.33 | 70.02 | 2742 |
| HSA-MIR-6852-5P | 99.17 | 66.69 | 2073 |
| HSA-MIR-6799-5P | 99.14 | 65.72 | 2093 |
| HSA-MIR-939-3P | 98.97 | 65.07 | 2347 |
| HSA-MIR-5001-3P | 98.91 | 67.28 | 1394 |
| HSA-MIR-501-5P | 98.77 | 68.88 | 1328 |
| HSA-MIR-7155-5P | 98.65 | 66.14 | 1290 |
| HSA-MIR-4700-5P | 98.63 | 67.43 | 1915 |
| HSA-MIR-6742-3P | 97.95 | 64.50 | 1490 |
| HSA-MIR-8089 | 97.74 | 66.21 | 1698 |
Literature-anchored findings (GeneRIF, showing 13)
- overexpression of DRG2 in Jurkat cells affects genes regulating cell-cycle arrest and apoptosis, and that these molecular changes may be important in the growth or differentiation of cells (PMID:15113831)
- Basal expression level of DRG2 is regulated by the Sp1 transcription factor. (PMID:21296692)
- miR19153p functions as a silencer of apoptosis, which regulates lung cancer apoptosis via targeting DRG2/PBX2. (PMID:26572100)
- Results demonstrate that DRG2 is an endosomal protein and a key regulator of Rab5 deactivation and Tfn recycling. (PMID:26582392)
- Authors observed that knockdown of DRG2 in HeLa cells affected growth in a wound-healing assay, and tumorigenicity in nude mice xenografts. (PMID:27669826)
- Taken together, our data demonstrate that DRG2 acts as a regulator of mitochondrial fission by controlling the expression of Drp1. (PMID:28363867)
- Results show that the SNP (rs2257609 C>T) located in the intron region of SLC5A10 variant does not affect the expression of SLC5A10 mRNA, but alters the mRNA expression and promoter activity of DRG2. It is significantly associated with worse overall and disease-free survival of non-small-cell lung cancer (NSCLC) patients. (PMID:30281872)
- Using immunoprecipitation, authors show that DRG2 interacts with tau, which regulates microtubule polymerization. Collectively, these data demonstrate that DRG2 may aid in affecting microtubule dynamics in HeLa cells. (PMID:30453731)
- Knockdown of DRG2 in HeLa cells treated with epidermal growth factor (EGF) affects microtubule dynamics, perinuclear Golgi stacking, and cell migration. (PMID:31199931)
- DRG2 supports the growth of primary tumors and metastases of melanoma by enhancing VEGF-A expression. (PMID:31693298)
- Developmentally regulated GTP-binding protein 2 levels in prostate cancer cell lines impact docetaxel-induced apoptosis. (PMID:34190439)
- Developmentally regulated GTP-binding protein-2 regulates adipocyte differentiation. (PMID:34520979)
- Developmentally regulated GTPases: structure, function and roles in disease. (PMID:34664086)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | drg2 | ENSDARG00000006642 |
| mus_musculus | Drg2 | ENSMUSG00000020537 |
| rattus_norvegicus | Drg2 | ENSRNOG00000055309 |
| drosophila_melanogaster | CG6195 | FBGN0038723 |
| caenorhabditis_elegans | WBGENE00015346 |
Paralogs (4): MTG2 (ENSG00000101181), GTPBP10 (ENSG00000105793), GTPBP4 (ENSG00000107937), DRG1 (ENSG00000185721)
Protein
Protein identifiers
Developmentally-regulated GTP-binding protein 2 — P55039 (reviewed: P55039)
Alternative names: Translation factor GTPase DRG2
All UniProt accessions (10): P55039, A8MZF9, J3KRL5, J3QKV7, J3QKW7, J3QL90, J3QLF3, J3QQI1, J3QR71, J3QRI9
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the conversion of GTP to GDP through hydrolysis of the gamma-phosphate bond in GTP. When hydroxylated at C-3 of ‘Lys-21’ by JMJD7, may bind to RNA and play a role in translation.
Subunit / interactions. Interacts with RWDD1; this interaction confers protection to polyubiquitination and proteolytic degradation. Interacts with JMJD7; this interaction is direct.
Subcellular location. Nucleus. Cytoplasm.
Tissue specificity. Highest levels in skeletal muscle, heart and kidney. Low levels in colon, thymus, spleen, small intestine, lung and Leukocytes.
Post-translational modifications. Hydroxylated (with S stereochemistry) at C-3 of Lys-21 by JMJD7; this modification hinders trypsin-catalyzed proteolysis in vitro. Polyubiquitinated.
Similarity. Belongs to the TRAFAC class OBG-HflX-like GTPase superfamily. OBG GTPase family.
RefSeq proteins (2): NP_001317073, NP_001379* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004095 | TGS | Domain |
| IPR005225 | Small_GTP-bd | Domain |
| IPR006073 | GTP-bd | Domain |
| IPR006074 | GTP1-OBG_CS | Conserved_site |
| IPR012675 | Beta-grasp_dom_sf | Homologous_superfamily |
| IPR012676 | TGS-like | Homologous_superfamily |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR031167 | G_OBG | Domain |
| IPR031662 | GTP-binding_2 | Domain |
| IPR045001 | DRG | Family |
Pfam: PF01926, PF02824, PF16897
Catalyzed reactions (Rhea), 1 shown:
- GTP + H2O = GDP + phosphate + H(+) (RHEA:19669)
UniProt features (14 total): binding site 7, domain 2, sequence variant 2, chain 1, modified residue 1, mutagenesis site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P55039-F1 | 85.40 | 0.54 |
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 (7): 69–76; 76; 94–98; 96; 115–118; 246–249; 269–271
Post-translational modifications (1): 21
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 21 | impairs jmjd7-mediated hydroxylation and ribonucleic acid binding. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9629569 | Protein hydroxylation |
MSigDB gene sets: 188 (showing top):
GOBP_CYTOPLASMIC_TRANSLATION, HORIUCHI_WTAP_TARGETS_DN, SHEPARD_CRASH_AND_BURN_MUTANT_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GCM_MYCL1, GOBP_TRANSLATION, GCM_PRKCG, GCM_RING1, HOSHIDA_LIVER_CANCER_SUBCLASS_S3, GCM_FCGR2B, GCM_DPF2, MORF_PML, GCM_ATM, MORF_PDPK1, MORF_IKBKG
GO Biological Process (2): cytoplasmic translation (GO:0002181), signal transduction (GO:0007165)
GO Molecular Function (7): RNA binding (GO:0003723), GTPase activity (GO:0003924), GTP binding (GO:0005525), metal ion binding (GO:0046872), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787)
GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Gamma carboxylation, hypusinylation, hydroxylation, and arylsulfatase activation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| translation | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| nucleic acid binding | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| guanyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| cation binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
2718 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DRG2 | RWDD1 | Q9H446 | 926 |
| DRG2 | ZC3H15 | Q8WU90 | 805 |
| DRG2 | GCN1 | Q92616 | 615 |
| DRG2 | LRRC18 | Q8N456 | 605 |
| DRG2 | JMJD7 | P0C870 | 507 |
| DRG2 | MAP7 | Q14244 | 476 |
| DRG2 | EAPP | Q56P03 | 472 |
| DRG2 | ARFGEF3 | Q5TH69 | 449 |
| DRG2 | RPL27A | P46776 | 445 |
| DRG2 | DRC3 | Q9H069 | 432 |
| DRG2 | MYO15A | Q9UKN7 | 419 |
| DRG2 | ATPAF2 | Q8N5M1 | 409 |
| DRG2 | ZCCHC4 | Q9H5U6 | 409 |
| DRG2 | NATD1 | Q8N6N6 | 400 |
| DRG2 | MLEC | Q14165 | 394 |
IntAct
53 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RWDD1 | DRG2 | psi-mi:“MI:0915”(physical association) | 0.900 |
| DRG2 | RWDD1 | psi-mi:“MI:0915”(physical association) | 0.900 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| DRG2 | NAB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DRG2 | TSSK3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| JMJD7 | DRG2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EIF4A3 | DRG2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DRG2 | JPH3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DRG2 | SPRED1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DRG2 | HSPA8 | psi-mi:“MI:0914”(association) | 0.530 |
| nleB1 | DRG2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| DRG2 | nleB1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| MKI67 | ARHGAP10 | psi-mi:“MI:0914”(association) | 0.350 |
| LRRK2 | psi-mi:“MI:0914”(association) | 0.350 | |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| KCNE3 | PIK3R2 | psi-mi:“MI:0914”(association) | 0.350 |
| DRG2 | MAPK13 | psi-mi:“MI:0914”(association) | 0.350 |
| TNFRSF1B | MAP3K7 | psi-mi:“MI:0914”(association) | 0.350 |
| DRG2 | DHPS | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (105): RWDD1 (Two-hybrid), HSPA8 (Affinity Capture-MS), RWDD1 (Affinity Capture-MS), RWDD1 (Two-hybrid), DDX55 (Co-fractionation), RWDD1 (Co-fractionation), DRG2 (Proximity Label-MS), DRG2 (Proximity Label-MS), DRG2 (Affinity Capture-MS), CUL1 (Affinity Capture-Western), SKP1 (Affinity Capture-Western), RWDD1 (Affinity Capture-MS), HSPA8 (Affinity Capture-MS), DRG2 (Affinity Capture-MS), DRG2 (Proximity Label-MS)
ESM2 similar proteins: A0A384E139, A1RRV1, A1RVI0, A4YF02, B5YA17, C0QTG9, C3MKR6, C3MRI1, C3MUB4, C3MY77, C3MZK6, C3N1A2, C3N7M8, C3N992, C3NFU5, C3NMW1, C4KIT6, C4KKU5, E3GZ90, O27449, O29758, O58452, O67004, P32235, P39466, P55039, P77919, Q3AC00, Q4JC10, Q51796, Q54WT4, Q55075, Q57557, Q58947, Q58D56, Q5JGT7, Q6L0E6, Q8PWQ0, Q8RDH4, Q8U374
Diamond homologs: A0M5C6, A0Q1T4, A1VXH9, A2RE30, A2RJQ6, A3CM33, A3DBS5, A4VUC8, A4W0M2, A6TQJ6, A7H1H0, A7I166, A7Z781, A8AWM9, A8EV83, A8F478, A8FJQ1, A8MHK8, A8Z631, A8Z6G0, A9KMF5, B0K414, B0KAB8, B0S3Z4, B1HVB2, B1IBL9, B1YJR9, B2A6B7, B2GGD9, B2IQ29, B2USD4, B3PMC1, B4U3Q7, B5E4J4, B5YEQ1, B5ZA69, B6JKN2, B8CXZ0, B8E0B2, B8FM68
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
65 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 49 |
| Likely benign | 1 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 155143 | GRCh38/hg38 17p11.2(chr17:16858500-20559337)x1 | Pathogenic |
SpliceAI
2105 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:18088085:AGG:A | donor_gain | 1.0000 |
| 17:18088086:GG:G | donor_gain | 1.0000 |
| 17:18088086:GGG:G | donor_gain | 1.0000 |
| 17:18088086:GGGTG:G | donor_loss | 1.0000 |
| 17:18088087:G:GT | donor_gain | 1.0000 |
| 17:18088087:GGTGA:G | donor_loss | 1.0000 |
| 17:18088088:G:GG | donor_gain | 1.0000 |
| 17:18088088:GTGA:G | donor_loss | 1.0000 |
| 17:18088089:T:A | donor_loss | 1.0000 |
| 17:18093805:T:G | acceptor_gain | 1.0000 |
| 17:18093811:A:AG | acceptor_gain | 1.0000 |
| 17:18093812:G:GG | acceptor_gain | 1.0000 |
| 17:18098268:A:AG | acceptor_gain | 1.0000 |
| 17:18098269:G:GG | acceptor_gain | 1.0000 |
| 17:18098360:G:GG | donor_gain | 1.0000 |
| 17:18099015:A:AG | acceptor_gain | 1.0000 |
| 17:18099016:G:GG | acceptor_gain | 1.0000 |
| 17:18099630:CA:C | acceptor_loss | 1.0000 |
| 17:18099631:A:AC | acceptor_loss | 1.0000 |
| 17:18099632:G:T | acceptor_loss | 1.0000 |
| 17:18099632:GGAA:G | acceptor_gain | 1.0000 |
| 17:18099710:G:GT | donor_gain | 1.0000 |
| 17:18099711:G:T | donor_gain | 1.0000 |
| 17:18100432:CAAGG:C | donor_loss | 1.0000 |
| 17:18100434:AGGTG:A | donor_loss | 1.0000 |
| 17:18100437:T:G | donor_loss | 1.0000 |
| 17:18100567:A:AG | acceptor_gain | 1.0000 |
| 17:18100568:G:GG | acceptor_gain | 1.0000 |
| 17:18100660:G:GG | donor_gain | 1.0000 |
| 17:18100687:G:GT | donor_gain | 1.0000 |
AlphaMissense
2365 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:18088086:G:C | K21N | 1.000 |
| 17:18088086:G:T | K21N | 1.000 |
| 17:18093816:C:T | T23I | 1.000 |
| 17:18093824:C:G | H26D | 1.000 |
| 17:18093837:T:C | L30P | 1.000 |
| 17:18093842:G:C | A32P | 1.000 |
| 17:18093849:T:C | L34P | 1.000 |
| 17:18093861:G:C | R38P | 1.000 |
| 17:18093911:T:C | F55L | 1.000 |
| 17:18093913:T:A | F55L | 1.000 |
| 17:18093913:T:G | F55L | 1.000 |
| 17:18093953:G:A | G69R | 1.000 |
| 17:18093953:G:C | G69R | 1.000 |
| 17:18093954:G:A | G69E | 1.000 |
| 17:18093968:G:C | G74R | 1.000 |
| 17:18093969:G:A | G74D | 1.000 |
| 17:18093971:A:C | K75Q | 1.000 |
| 17:18093972:A:T | K75M | 1.000 |
| 17:18098324:T:C | F94L | 1.000 |
| 17:18098325:T:C | F94S | 1.000 |
| 17:18098325:T:G | F94C | 1.000 |
| 17:18098326:C:A | F94L | 1.000 |
| 17:18098326:C:G | F94L | 1.000 |
| 17:18098341:T:G | C99W | 1.000 |
| 17:18099042:T:C | L114P | 1.000 |
| 17:18099044:G:C | D115H | 1.000 |
| 17:18099045:A:G | D115G | 1.000 |
| 17:18099048:T:C | L116P | 1.000 |
| 17:18099053:G:A | G118R | 1.000 |
| 17:18099053:G:C | G118R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000210526 (17:18105177 G>C), RS1000268454 (17:18098855 C>A), RS1000325226 (17:18092717 T>C), RS1000395212 (17:18094431 C>T), RS1000706461 (17:18106449 G>A), RS1000840361 (17:18089365 C>T), RS1001107885 (17:18090816 G>T), RS1001270265 (17:18091726 C>T), RS1001274133 (17:18088490 G>T), RS1001580384 (17:18101181 C>G), RS1001599269 (17:18104575 G>T), RS1001675008 (17:18095323 T>C), RS1001937548 (17:18103227 G>C), RS1002005408 (17:18096436 C>T), RS1002052549 (17:18103498 GC>G)
Disease associations
OMIM: gene MIM:602986 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002539_86 | Schizophrenia | 2.000000e-08 |
| GCST004946_149 | Schizophrenia | 7.000000e-10 |
| GCST012229_193 | Hip index | 5.000000e-09 |
| GCST012229_194 | Hip index | 5.000000e-08 |
| GCST90020024_515 | A body shape index | 2.000000e-08 |
| GCST90020029_583 | Waist circumference adjusted for body mass index | 7.000000e-11 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008039 | BMI-adjusted hip circumference |
| EFO:0007789 | BMI-adjusted waist circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| aristolochic acid I | increases expression | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| 2,4,6-tribromophenol | increases expression | 1 |
| bisphenol A | decreases expression | 1 |
| decabromobiphenyl ether | increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| 14-deoxy-11,12-didehydroandrographolide | decreases expression | 1 |
| abrine | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | increases expression | 1 |
| pentabrominated diphenyl ether 100 | increases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Air Pollutants, Occupational | affects expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Dexamethasone | increases expression, affects cotreatment | 1 |
| Doxorubicin | increases expression | 1 |
| Estradiol | decreases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Quercetin | decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Selenium | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Vitallium | increases expression | 1 |
| Vitamin E | increases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| beta-Naphthoflavone | increases expression | 1 |
| Genistein | decreases expression, increases expression | 1 |
| Acrylamide | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.