RAB15
gene geneOn this page
Summary
RAB15 (RAB15, member RAS oncogene family, HGNC:20150) is a protein-coding gene on chromosome 14q23.3, encoding Ras-related protein Rab-15 (P59190). The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes.
Enables G protein activity. Involved in positive regulation of regulated secretory pathway and receptor-mediated endocytosis. Located in cilium; endosome membrane; and perinuclear region of cytoplasm.
Source: NCBI Gene 376267 — RefSeq curated summary.
At a glance
- MANE Select transcript:
NM_001308154
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20150 |
| Approved symbol | RAB15 |
| Name | RAB15, member RAS oncogene family |
| Location | 14q23.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000139998 |
| Ensembl biotype | protein_coding |
| OMIM | 619547 |
| Entrez | 376267 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 8 protein_coding, 2 retained_intron, 2 nonsense_mediated_decay
ENST00000267512, ENST00000426039, ENST00000533601, ENST00000554593, ENST00000555256, ENST00000585059, ENST00000642625, ENST00000642782, ENST00000646728, ENST00000646754, ENST00000865638, ENST00000969799
RefSeq mRNA: 3 — MANE Select: NM_001308154
NM_001308154, NM_001330182, NM_198686
CCDS: CCDS76691, CCDS81812, CCDS9768
Canonical transcript exons
ENST00000533601 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000940985 | 64951603 | 64951663 |
| ENSE00001656040 | 64951074 | 64951151 |
| ENSE00002140752 | 64971953 | 64972336 |
| ENSE00002200375 | 64945816 | 64948512 |
| ENSE00003635194 | 64952511 | 64952571 |
| ENSE00003641581 | 64948668 | 64948733 |
| ENSE00003666275 | 64950325 | 64950414 |
Expression profiles
Bgee: expression breadth ubiquitous, 248 present calls, max score 97.63.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.5259 / max 129.1071, expressed in 1402 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 143689 | 7.0305 | 1356 |
| 143688 | 0.4218 | 177 |
| 143690 | 0.3369 | 183 |
| 143682 | 0.3327 | 179 |
| 143686 | 0.1548 | 69 |
| 143683 | 0.0860 | 24 |
| 143685 | 0.0678 | 37 |
| 143687 | 0.0497 | 25 |
| 143684 | 0.0458 | 24 |
Top tissues by expression
280 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 97.63 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 97.48 | gold quality |
| cerebellar cortex | UBERON:0002129 | 97.43 | gold quality |
| cerebellum | UBERON:0002037 | 96.71 | gold quality |
| right frontal lobe | UBERON:0002810 | 96.07 | gold quality |
| prefrontal cortex | UBERON:0000451 | 95.12 | gold quality |
| frontal cortex | UBERON:0001870 | 94.65 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 94.63 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 94.46 | gold quality |
| cingulate cortex | UBERON:0003027 | 94.44 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 94.43 | gold quality |
| neocortex | UBERON:0001950 | 94.35 | gold quality |
| cortical plate | UBERON:0005343 | 94.03 | gold quality |
| endothelial cell | CL:0000115 | 93.75 | gold quality |
| parotid gland | UBERON:0001831 | 93.43 | gold quality |
| cerebral cortex | UBERON:0000956 | 93.40 | gold quality |
| primary visual cortex | UBERON:0002436 | 93.25 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 93.20 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 92.59 | gold quality |
| oocyte | CL:0000023 | 92.41 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 92.11 | gold quality |
| occipital lobe | UBERON:0002021 | 92.03 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 91.84 | gold quality |
| secondary oocyte | CL:0000655 | 91.78 | gold quality |
| parietal lobe | UBERON:0001872 | 91.69 | gold quality |
| postcentral gyrus | UBERON:0002581 | 91.50 | gold quality |
| telencephalon | UBERON:0001893 | 91.34 | gold quality |
| Ammon’s horn | UBERON:0001954 | 91.30 | gold quality |
| amygdala | UBERON:0001876 | 90.94 | gold quality |
| cerebellar vermis | UBERON:0004720 | 90.83 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-3929 | yes | 414.76 |
| E-ANND-3 | yes | 6.07 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): EGR4
miRNA regulators (miRDB)
137 targeting RAB15, 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-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-7152-3P | 99.97 | 67.47 | 849 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
Literature-anchored findings (GeneRIF, showing 4)
- Rab15 effector protein is a binding partner for Rab15-GTP. (PMID:16195351)
- Rab15 expression correlates with retinoic acid-induced differentiation of neuroblastoma cells (PMID:21491086)
- identified 4 Rab15 isoforms, Rab15CN, Rab15AN1, Rab15AN2 and Rab15AN3 in neuroblastoma cells and demonstrated that Rab15 isoform balance was significantly decreased in spheres of neuroblastoma cells; study suggests Rab15 alternative splicing may serve as a biomarker to discriminate tumor-initiating cells (TICs) from non-TICs in neuroblastoma (PMID:22427180)
- Ehrlichia chaffeensis Etf-3 Induces Host RAB15 Upregulation for Bacterial Intracellular Growth. (PMID:38473798)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rab15 | ENSDARG00000026484 |
| mus_musculus | Rab15 | ENSMUSG00000021062 |
| rattus_norvegicus | Rab15 | ENSRNOG00000007364 |
Paralogs (68): RAB27B (ENSG00000041353), RAB27A (ENSG00000069974), RAB7A (ENSG00000075785), RABL2B (ENSG00000079974), RAB21 (ENSG00000080371), RAB10 (ENSG00000084733), RAB18 (ENSG00000099246), RAB36 (ENSG00000100228), IFT27 (ENSG00000100360), RAB40AL (ENSG00000102128), RAB11A (ENSG00000103769), RAB2A (ENSG00000104388), RAB3D (ENSG00000105514), RAB3A (ENSG00000105649), RAB5C (ENSG00000108774), RAB34 (ENSG00000109113), RAB5B (ENSG00000111540), RAB35 (ENSG00000111737), RAB23 (ENSG00000112210), DNAJC27 (ENSG00000115137), RAB29 (ENSG00000117280), RAB32 (ENSG00000118508), RAB14 (ENSG00000119396), RAB9B (ENSG00000123570), RAB9A (ENSG00000123595), RAB38 (ENSG00000123892), RAB22A (ENSG00000124209), RAB17 (ENSG00000124839), RAB2B (ENSG00000129472), RAB25 (ENSG00000132698), RAB33A (ENSG00000134594), RAB30 (ENSG00000137502), RAB1A (ENSG00000138069), RAB20 (ENSG00000139832), RAB40B (ENSG00000141542), RAB13 (ENSG00000143545), RABL2A (ENSG00000144134), RAB5A (ENSG00000144566), RAB19 (ENSG00000146955), RAB41 (ENSG00000147127)
Protein
Protein identifiers
Ras-related protein Rab-15 — P59190 (reviewed: P59190)
All UniProt accessions (8): P59190, A0A2R8Y7G7, A0A2R8YDI9, A0A2R8YFB8, G3V196, G3V562, G5EMR8, J3QSF4
UniProt curated annotations — full annotation on UniProt →
Function. The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. RAB15 may act in concert with RAB3A in regulating aspects of synaptic vesicle membrane flow within the nerve terminal.
Subunit / interactions. The GTP bound form of RAB15 interacts with REP15. Interacts (GTP-bound form) with MICAL1, MICAL3, MICALCL, EHBP1 and EHBP1L1.
Subcellular location. Cell membrane.
Activity regulation. Regulated by guanine nucleotide exchange factors (GEFs) which promote the exchange of bound GDP for free GTP. Regulated by GTPase activating proteins (GAPs) which increase the GTP hydrolysis activity. Inhibited by GDP dissociation inhibitors (GDIs).
Domain organisation. Switch 1, switch 2 and the interswitch regions are characteristic of Rab GTPases and mediate the interactions with Rab downstream effectors. The switch regions undergo conformational changes upon nucleotide binding which drives interaction with specific sets of effector proteins, with most effectors only binding to GTP-bound Rab.
Similarity. Belongs to the small GTPase superfamily. Rab family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P59190-1 | 1 | yes |
| P59190-2 | 2 |
RefSeq proteins (3): NP_001295083, NP_001317111, NP_941959 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001806 | Small_GTPase | Family |
| IPR005225 | Small_GTP-bd | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR041826 | Rab15 | Family |
| IPR050305 | Small_GTPase_Rab | Family |
Pfam: PF00071
Catalyzed reactions (Rhea), 1 shown:
- GTP + H2O = GDP + phosphate + H(+) (RHEA:19669)
UniProt features (27 total): binding site 19, short sequence motif 2, lipid moiety-binding region 2, chain 1, region of interest 1, modified residue 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P59190-F1 | 89.77 | 0.74 |
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 (19): 22; 23; 35; 39; 40; 40; 63; 66; 121; 122; 124; 151 …
Post-translational modifications (3): 212, 210, 212
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-8873719 | RAB geranylgeranylation |
MSigDB gene sets: 109 (showing top):
TGGTGCT_MIR29A_MIR29B_MIR29C, KOBAYASHI_EGFR_SIGNALING_24HR_UP, GOBP_REGULATION_OF_EXOCYTOSIS, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, GOBP_EXOCYTOSIS, GOBP_POSITIVE_REGULATION_OF_REGULATED_SECRETORY_PATHWAY, DOANE_RESPONSE_TO_ANDROGEN_DN, BILD_E2F3_ONCOGENIC_SIGNATURE, GOBP_POSITIVE_REGULATION_OF_EXOCYTOSIS, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, GOBP_SECRETION, GOBP_REGULATION_OF_REGULATED_SECRETORY_PATHWAY, TATA_C, TCCAGAG_MIR518C
GO Biological Process (5): exocytosis (GO:0006887), receptor-mediated endocytosis (GO:0006898), protein transport (GO:0015031), Rab protein signal transduction (GO:0032482), positive regulation of regulated secretory pathway (GO:1903307)
GO Molecular Function (7): G protein activity (GO:0003925), GTP binding (GO:0005525), metal ion binding (GO:0046872), nucleotide binding (GO:0000166), GTPase activity (GO:0003924), protein binding (GO:0005515), hydrolase activity (GO:0016787)
GO Cellular Component (7): cytoplasm (GO:0005737), plasma membrane (GO:0005886), cilium (GO:0005929), endosome membrane (GO:0010008), perinuclear region of cytoplasm (GO:0048471), extracellular exosome (GO:0070062), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Post-translational protein modification | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| vesicle-mediated transport | 1 |
| secretion by cell | 1 |
| vesicle fusion to plasma membrane | 1 |
| endocytosis | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| small GTPase-mediated signal transduction | 1 |
| regulated exocytosis | 1 |
| positive regulation of exocytosis | 1 |
| regulation of regulated secretory pathway | 1 |
| GTPase activity | 1 |
| molecular function regulator activity | 1 |
| guanyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| cation binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| intracellular anatomical structure | 1 |
| membrane | 1 |
| cell periphery | 1 |
| intraciliary transport particle | 1 |
| membrane-bounded organelle | 1 |
| plasma membrane bounded cell projection | 1 |
| endosome | 1 |
| cytoplasmic vesicle membrane | 1 |
| bounding membrane of organelle | 1 |
| cytoplasm | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
946 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RAB15 | REP15 | Q6BDI9 | 884 |
| RAB15 | MICALL1 | Q8N3F8 | 721 |
| RAB15 | EEA1 | Q15075 | 660 |
| RAB15 | MAPK1IP1L | Q8NDC0 | 567 |
| RAB15 | TFRC | P02786 | 548 |
| RAB15 | GCC2 | Q8IWJ2 | 474 |
| RAB15 | SMCR8 | Q8TEV9 | 458 |
| RAB15 | WDR41 | Q9HAD4 | 457 |
| RAB15 | C9orf72 | Q96LT7 | 421 |
| RAB15 | MYRIP | Q8NFW9 | 417 |
| RAB15 | MICALL2 | Q8IY33 | 366 |
| RAB15 | UNC13D | Q70J99 | 365 |
| RAB15 | PLLP | Q9Y342 | 361 |
| RAB15 | ZNF205 | O95201 | 359 |
| RAB15 | SLCO6A1 | Q86UG4 | 354 |
IntAct
28 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RAB15 | RAP1GDS1 | psi-mi:“MI:0914”(association) | 0.640 |
| SLC25A6 | HRAS | psi-mi:“MI:0914”(association) | 0.530 |
| CFTR | CNOT1 | psi-mi:“MI:0914”(association) | 0.480 |
| RAB15 | E6 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CD177 | MYO1G | psi-mi:“MI:0914”(association) | 0.350 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| CFTR | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| RYBP | PIPSL | psi-mi:“MI:0914”(association) | 0.350 |
| RYBP | FAM186A | psi-mi:“MI:0914”(association) | 0.350 |
| GABARAPL1 | psi-mi:“MI:0914”(association) | 0.350 | |
| SDCBP | psi-mi:“MI:0914”(association) | 0.350 | |
| CUL3 | KIF21B | psi-mi:“MI:0914”(association) | 0.350 |
| H2AB1 | UBB | psi-mi:“MI:0914”(association) | 0.350 |
| MICALL1 | PLCG1 | psi-mi:“MI:0914”(association) | 0.350 |
| RAB15 | NRDC | psi-mi:“MI:0914”(association) | 0.350 |
| SLC15A3 | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC22A11 | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| IPO5 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (50): RAP1GDS1 (Affinity Capture-MS), TOR1AIP2 (Affinity Capture-MS), RAB15 (Affinity Capture-MS), RAB15 (Affinity Capture-MS), RAB15 (Affinity Capture-MS), VDAC3 (Co-fractionation), BAG6 (Affinity Capture-Western), RAB15 (Affinity Capture-MS), RAB15 (Negative Genetic), RAB15 (Affinity Capture-RNA), RAB15 (Proximity Label-MS), RAB15 (Affinity Capture-MS), RAB15 (Affinity Capture-MS), RABIF (Two-hybrid), TOR1AIP2 (Affinity Capture-MS)
ESM2 similar proteins: A6QR46, C4YL11, O00194, O18334, O23657, O49841, O80501, P0CY30, P0CY31, P10949, P17608, P20340, P34213, P35279, P35289, P35293, P36017, P55745, P59190, P61294, P62823, P62824, P90726, Q05976, Q0IIG8, Q17R06, Q1KME6, Q1RMR4, Q22782, Q54DA7, Q55FK2, Q5R5H5, Q5RAV6, Q5ZLG1, Q6DHC1, Q8CG50, Q8HZJ5, Q8K386, Q8MXS1, Q96E17
Diamond homologs: A4FV54, C4YL11, F1PTE3, O24466, O42819, O76173, O95716, P01123, P07560, P0CY30, P0CY31, P10536, P10949, P11023, P11620, P16976, P17609, P20336, P20790, P20791, P22125, P22127, P22128, P24409, P25228, P28186, P28188, P31584, P33723, P34139, P34140, P35276, P35280, P35281, P35286, P35289, P36861, P40392, P41924, P51153
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
0 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1144 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:64948508:AATGA:A | acceptor_gain | 1.0000 |
| 14:64948509:ATGA:A | acceptor_gain | 1.0000 |
| 14:64948510:TGA:T | acceptor_gain | 1.0000 |
| 14:64948510:TGAC:T | acceptor_loss | 1.0000 |
| 14:64948511:GA:G | acceptor_gain | 1.0000 |
| 14:64948513:C:CC | acceptor_gain | 1.0000 |
| 14:64948513:CT:C | acceptor_loss | 1.0000 |
| 14:64948514:T:C | acceptor_loss | 1.0000 |
| 14:64948663:CTCAC:C | donor_loss | 1.0000 |
| 14:64948665:CA:C | donor_loss | 1.0000 |
| 14:64948667:CCT:C | donor_gain | 1.0000 |
| 14:64948730:CCAG:C | acceptor_gain | 1.0000 |
| 14:64948731:CAG:C | acceptor_gain | 1.0000 |
| 14:64948731:CAGC:C | acceptor_gain | 1.0000 |
| 14:64948734:C:CC | acceptor_gain | 1.0000 |
| 14:64948735:T:A | acceptor_loss | 1.0000 |
| 14:64950321:TTACC:T | donor_loss | 1.0000 |
| 14:64950322:TACCT:T | donor_loss | 1.0000 |
| 14:64950323:A:AC | donor_gain | 1.0000 |
| 14:64950324:C:CC | donor_gain | 1.0000 |
| 14:64950324:CCTG:C | donor_gain | 1.0000 |
| 14:64950410:GCGTA:G | acceptor_gain | 1.0000 |
| 14:64950411:CGTA:C | acceptor_gain | 1.0000 |
| 14:64950411:CGTAC:C | acceptor_gain | 1.0000 |
| 14:64950412:GTA:G | acceptor_gain | 1.0000 |
| 14:64950413:TA:T | acceptor_gain | 1.0000 |
| 14:64950413:TACT:T | acceptor_loss | 1.0000 |
| 14:64950415:C:CC | acceptor_gain | 1.0000 |
| 14:64950422:C:CT | acceptor_gain | 1.0000 |
| 14:64950423:A:T | acceptor_gain | 1.0000 |
AlphaMissense
1394 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:64951660:G:C | D63E | 1.000 |
| 14:64951660:G:T | D63E | 1.000 |
| 14:64951661:T:A | D63V | 1.000 |
| 14:64951661:T:G | D63A | 1.000 |
| 14:64951662:C:G | D63H | 1.000 |
| 14:64972012:G:A | T22I | 1.000 |
| 14:64950373:C:A | K122N | 0.999 |
| 14:64950373:C:G | K122N | 0.999 |
| 14:64950375:T:C | K122E | 0.999 |
| 14:64950386:A:G | L118P | 0.999 |
| 14:64950386:A:T | L118H | 0.999 |
| 14:64951094:A:G | W102R | 0.999 |
| 14:64951094:A:T | W102R | 0.999 |
| 14:64951150:C:T | G83E | 0.999 |
| 14:64951151:C:A | G83W | 0.999 |
| 14:64951151:C:G | G83R | 0.999 |
| 14:64951151:C:T | G83R | 0.999 |
| 14:64951652:C:T | G66E | 0.999 |
| 14:64951653:C:A | G66W | 0.999 |
| 14:64951653:C:G | G66R | 0.999 |
| 14:64951653:C:T | G66R | 0.999 |
| 14:64951661:T:C | D63G | 0.999 |
| 14:64951662:C:A | D63Y | 0.999 |
| 14:64951663:C:A | W62C | 0.999 |
| 14:64951663:C:G | W62C | 0.999 |
| 14:64952512:A:G | W62R | 0.999 |
| 14:64952512:A:T | W62R | 0.999 |
| 14:64952561:A:C | F45L | 0.999 |
| 14:64952561:A:T | F45L | 0.999 |
| 14:64952563:A:G | F45L | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000009500 (14:64963830 C>A), RS1000368282 (14:64966661 T>A,C), RS1000441747 (14:64966413 C>T), RS1000535100 (14:64963982 G>C), RS1000683510 (14:64960475 A>C), RS1000758060 (14:64973852 C>T), RS1000949489 (14:64970211 C>CA), RS1000999737 (14:64955817 T>C), RS1001115580 (14:64956031 C>T), RS1001269031 (14:64970291 A>T), RS1001345864 (14:64973916 CG>C,CGG), RS1001513221 (14:64946451 G>A), RS1001551050 (14:64956915 C>A), RS1001761891 (14:64950795 A>C,T), RS1001779361 (14:64953355 G>A,C,T)
Disease associations
OMIM: gene MIM:619547 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, increases methylation | 7 |
| Arsenic Trioxide | decreases expression, increases expression | 2 |
| Benzo(a)pyrene | increases expression, affects methylation | 2 |
| Progesterone | affects cotreatment, decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| beta-lapachone | decreases expression, increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | decreases expression, increases abundance | 1 |
| epigallocatechin gallate | increases expression | 1 |
| phenethyl isothiocyanate | affects binding | 1 |
| Am 580 | decreases expression | 1 |
| pentabromodiphenyl ether | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| incobotulinumtoxinA | decreases expression | 1 |
| Rosiglitazone | decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | decreases expression, affects cotreatment | 1 |
| Ivermectin | decreases expression | 1 |
| Lead | affects expression | 1 |
| Tretinoin | 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.