RAB44
gene geneOn this page
Also known as dJ431A14.3
Summary
RAB44 (RAB44, member RAS oncogene family, HGNC:21068) is a protein-coding gene on chromosome 6p21.2, encoding Ras-related protein Rab-44 (Q7Z6P3). The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes.
Predicted to enable GTP binding activity and GTPase activity. Predicted to be involved in vesicle-mediated transport. Predicted to act upstream of or within histamine secretion by mast cell and histamine secretion mediated by IgE immunoglobulin. Predicted to be located in azurophil granule membrane; plasma membrane; and specific granule membrane.
Source: NCBI Gene 401258 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 9 total
- MANE Select transcript:
NM_001257357
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21068 |
| Approved symbol | RAB44 |
| Name | RAB44, member RAS oncogene family |
| Location | 6p21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | dJ431A14.3 |
| Ensembl gene | ENSG00000255587 |
| Ensembl biotype | protein_coding |
| Entrez | 401258 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000612677, ENST00000957683
RefSeq mRNA: 1 — MANE Select: NM_001257357
NM_001257357
CCDS: CCDS75442
Canonical transcript exons
ENST00000612677 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000749010 | 36727577 | 36727691 |
| ENSE00001159145 | 36725862 | 36725943 |
| ENSE00001192733 | 36721151 | 36722733 |
| ENSE00002224510 | 36728700 | 36728801 |
| ENSE00003279854 | 36730673 | 36730749 |
| ENSE00003432941 | 36720363 | 36720550 |
| ENSE00003705387 | 36715479 | 36715653 |
| ENSE00003708428 | 36717273 | 36717419 |
| ENSE00003710671 | 36718493 | 36718588 |
| ENSE00003710885 | 36718028 | 36718118 |
| ENSE00003718758 | 36704224 | 36704442 |
| ENSE00003726304 | 36732003 | 36733184 |
| ENSE00003734569 | 36713828 | 36713939 |
| ENSE00003743820 | 36697826 | 36697915 |
Expression profiles
Bgee: expression breadth broad, 75 present calls, max score 85.95.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.5414 / max 364.7018, expressed in 149 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 67560 | 2.2942 | 146 |
| 67561 | 0.2472 | 64 |
Top tissues by expression
117 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| bone marrow | UBERON:0002371 | 85.95 | gold quality |
| monocyte | CL:0000576 | 80.37 | gold quality |
| leukocyte | CL:0000738 | 79.95 | gold quality |
| bone marrow cell | CL:0002092 | 79.44 | gold quality |
| granulocyte | CL:0000094 | 78.79 | gold quality |
| blood | UBERON:0000178 | 74.53 | gold quality |
| gall bladder | UBERON:0002110 | 58.76 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 58.30 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 57.49 | gold quality |
| urinary bladder | UBERON:0001255 | 57.44 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 57.40 | gold quality |
| lower esophagus | UBERON:0013473 | 57.35 | gold quality |
| duodenum | UBERON:0002114 | 57.33 | gold quality |
| vermiform appendix | UBERON:0001154 | 56.53 | gold quality |
| right lung | UBERON:0002167 | 56.50 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 55.74 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 55.69 | gold quality |
| spleen | UBERON:0002106 | 55.47 | gold quality |
| skin of leg | UBERON:0001511 | 55.39 | gold quality |
| mucosa of stomach | UBERON:0001199 | 55.28 | gold quality |
| esophagus | UBERON:0001043 | 55.24 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 55.20 | gold quality |
| lung | UBERON:0002048 | 54.76 | gold quality |
| zone of skin | UBERON:0000014 | 53.88 | gold quality |
| colonic epithelium | UBERON:0000397 | 53.56 | gold quality |
| esophagus mucosa | UBERON:0002469 | 53.38 | gold quality |
| muscle tissue | UBERON:0002385 | 53.11 | gold quality |
| right uterine tube | UBERON:0001302 | 52.79 | gold quality |
| adipose tissue | UBERON:0001013 | 52.74 | gold quality |
| body of stomach | UBERON:0001161 | 52.74 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6075 | yes | 55.95 |
| E-MTAB-9067 | yes | 14.11 |
| E-ANND-3 | yes | 4.40 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
40 targeting RAB44, 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-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-6844 | 99.82 | 70.69 | 2423 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
| HSA-MIR-1299 | 99.77 | 71.24 | 2389 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-875-3P | 99.63 | 69.47 | 2548 |
| HSA-MIR-12131 | 99.48 | 68.72 | 1673 |
| HSA-MIR-653-5P | 99.46 | 67.35 | 1300 |
| HSA-MIR-4762-3P | 99.43 | 69.72 | 2363 |
| HSA-MIR-5695 | 99.41 | 67.48 | 1047 |
| HSA-MIR-519D-5P | 99.41 | 69.30 | 2057 |
| HSA-MIR-520A-5P | 99.35 | 66.72 | 1632 |
| HSA-MIR-525-5P | 99.35 | 66.85 | 1615 |
| HSA-MIR-542-3P | 99.34 | 67.58 | 1270 |
| HSA-MIR-3692-5P | 99.29 | 67.04 | 1421 |
| HSA-MIR-5589-3P | 99.29 | 68.30 | 1443 |
| HSA-MIR-6071 | 99.16 | 67.77 | 1780 |
| HSA-MIR-7854-3P | 99.08 | 66.26 | 1117 |
| HSA-MIR-8070 | 99.07 | 69.30 | 1303 |
| HSA-MIR-1257 | 98.97 | 68.02 | 1133 |
| HSA-MIR-6770-5P | 98.97 | 66.76 | 1853 |
| HSA-MIR-6074 | 98.89 | 69.64 | 2187 |
| HSA-MIR-6769B-5P | 98.73 | 64.91 | 1092 |
| HSA-MIR-6840-3P | 98.68 | 65.95 | 1923 |
| HSA-MIR-6771-3P | 98.20 | 66.53 | 971 |
| HSA-MIR-6867-3P | 98.12 | 66.07 | 1305 |
Literature-anchored findings (GeneRIF, showing 1)
- Rab44 isoforms similarly promote lysosomal exocytosis, but exhibit differential localization in mast cells. (PMID:33641252)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rab44 | ENSDARG00000028389 |
| mus_musculus | Rab44 | ENSMUSG00000064147 |
| rattus_norvegicus | Rab44 | ENSRNOG00000001869 |
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), RAB15 (ENSG00000139998), RAB40B (ENSG00000141542), RAB13 (ENSG00000143545), RABL2A (ENSG00000144134), RAB5A (ENSG00000144566), RAB19 (ENSG00000146955)
Protein
Protein identifiers
Ras-related protein Rab-44 — Q7Z6P3 (reviewed: Q7Z6P3)
All UniProt accessions (1): Q7Z6P3
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. Promotes mast cell degranulation upon IgE Fc receptor (FcERI)-mediated activation.
Subunit / interactions. Interacts with VAMP8; VAMP8 may act as RAB44 effector in mast cell degranulation.
Subcellular location. Cell membrane. Lysosome 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 I, switch II 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 drive 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.
RefSeq proteins (1): NP_001244286* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001806 | Small_GTPase | Family |
| IPR002048 | EF_hand_dom | Domain |
| IPR005225 | Small_GTP-bd | Domain |
| IPR011992 | EF-hand-dom_pair | Homologous_superfamily |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR050227 | Rab | Family |
Pfam: PF00071
Catalyzed reactions (Rhea), 1 shown:
- GTP + H2O = GDP + phosphate + H(+) (RHEA:19669)
UniProt features (37 total): binding site 13, compositionally biased region 10, region of interest 7, lipid moiety-binding region 2, mutagenesis site 2, chain 1, domain 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q7Z6P3-F1 | 58.25 | 0.21 |
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 (13): 842; 845; 846; 847; 847; 865; 865; 888; 891; 946; 947; 949 …
Post-translational modifications (2): 1019, 1020
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 847 | constitutively inactive (gdp-bound) mutant. increased b-hexosaminidase secretion upon fceri-mediated activation, similar |
| 892 | constitutively active (gtp-bound) mutant. no change in beta-hexosaminidase secretion upon fceri-mediated activation, com |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-6798695 | Neutrophil degranulation |
| R-HSA-8873719 | RAB geranylgeranylation |
MSigDB gene sets: 82 (showing top):
GOBP_RESPONSE_TO_NITROGEN_COMPOUND, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_INFLAMMATORY_RESPONSE, GOCC_VACUOLAR_MEMBRANE, GOCC_SECRETORY_GRANULE, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_HORMONE_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, GOBP_CELL_CELL_SIGNALING, GOBP_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE, GOBP_MAST_CELL_ACTIVATION, GOBP_EXOCYTOSIS, GOBP_MYELOID_LEUKOCYTE_ACTIVATION
GO Biological Process (4): histamine secretion by mast cell (GO:0002553), vesicle-mediated transport (GO:0016192), mast cell degranulation (GO:0043303), histamine secretion mediated by IgE immunoglobulin (GO:0097279)
GO Molecular Function (6): GTPase activity (GO:0003924), G protein activity (GO:0003925), calcium ion binding (GO:0005509), GTP binding (GO:0005525), nucleotide binding (GO:0000166), protein binding (GO:0005515)
GO Cellular Component (8): lysosomal membrane (GO:0005765), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), early endosome membrane (GO:0031901), azurophil granule membrane (GO:0035577), specific granule membrane (GO:0035579), membrane (GO:0016020), specific granule (GO:0042581)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Innate Immune System | 1 |
| Post-translational protein modification | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| secretory granule membrane | 2 |
| histamine secretion involved in inflammatory response | 1 |
| mast cell degranulation | 1 |
| establishment of localization in cell | 1 |
| exocytic process | 1 |
| transport | 1 |
| cellular process | 1 |
| mast cell activation involved in immune response | 1 |
| mast cell mediated immunity | 1 |
| lysosome localization | 1 |
| leukocyte degranulation | 1 |
| establishment of organelle localization | 1 |
| histamine secretion mediated by immunoglobulin | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| GTPase activity | 1 |
| molecular function regulator activity | 1 |
| metal ion binding | 1 |
| guanyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| lysosome | 1 |
| lytic vacuole membrane | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| membrane | 1 |
| cell periphery | 1 |
| early endosome | 1 |
| endosome membrane | 1 |
| lysosomal membrane | 1 |
| azurophil granule | 1 |
| specific granule | 1 |
| cellular anatomical structure | 1 |
| secretory granule | 1 |
Protein interactions and networks
STRING
952 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RAB44 | VAMP8 | Q9BV40 | 535 |
| RAB44 | PTX4 | Q96A99 | 485 |
| RAB44 | SYTL2 | Q9HCH5 | 451 |
| RAB44 | FOXRED2 | Q8IWF2 | 381 |
| RAB44 | CCDC13 | Q8IYE1 | 375 |
| RAB44 | NFATC1 | O95644 | 372 |
| RAB44 | OR1E2 | P47887 | 368 |
| RAB44 | VPS52 | Q8N1B4 | 362 |
| RAB44 | TREML2 | Q5T2D2 | 357 |
| RAB44 | CCDC148 | Q8NFR7 | 356 |
| RAB44 | RASEF | Q8IZ41 | 352 |
| RAB44 | MTCH1 | Q9NZJ7 | 342 |
| RAB44 | RGL2 | O15211 | 342 |
| RAB44 | RILPL2 | Q969X0 | 340 |
| RAB44 | MRPL50 | Q8N5N7 | 332 |
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CRY1 | IGKV2D-30 | psi-mi:“MI:0914”(association) | 0.350 |
ESM2 similar proteins: A1YGK1, A2T7E6, A4D1S0, A9YTQ3, B1WBS3, I7HJS4, O43593, O43918, O60304, O75593, O95201, P0C6A0, P0C7X2, P97609, Q2MHN3, Q3B7M4, Q3SY56, Q3U133, Q58DK7, Q5JPB2, Q5SXI5, Q5T619, Q61645, Q6KAU7, Q6NUN9, Q6ZMS7, Q76NI1, Q7Z6P3, Q8BZ34, Q8BZW2, Q8CGW9, Q8IWN7, Q8IXT2, Q8IZ20, Q8NBB4, Q8NDX1, Q8NHY3, Q91X45, Q96PX9, Q99558
Diamond homologs: A0JP75, A1A600, B0BNK9, Q3UP38, Q7Z6P3, Q80ZJ8, Q8CB87, Q8N4Y2, Q9BSW2, Q619T5, A4IHM6, F1PTE3, F4KFD8, O13876, O23657, O49841, P35286, P51153, P51157, P51158, P51159, Q14964, Q17QU4, Q18969, Q32LJ6, Q3SWY9, Q58DS5, Q5HYI8, Q5KTJ6, Q5RFI2, Q5UQ27, Q5ZKR4, Q6GPS4, Q6TNS7, Q7T3A4, Q8BHC1, Q8BHD0, Q8N4Z0, Q948K8, Q96DA2
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
9 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 3 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2686 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:36704440:GCG:G | donor_gain | 1.0000 |
| 6:36713935:ACTCA:A | donor_gain | 1.0000 |
| 6:36713937:TCAGT:T | donor_loss | 1.0000 |
| 6:36713938:CAG:C | donor_loss | 1.0000 |
| 6:36713939:AGTA:A | donor_loss | 1.0000 |
| 6:36713940:GTAT:G | donor_gain | 1.0000 |
| 6:36713941:T:G | donor_loss | 1.0000 |
| 6:36715477:AGA:A | acceptor_loss | 1.0000 |
| 6:36715478:GA:G | acceptor_gain | 1.0000 |
| 6:36715478:GAAA:G | acceptor_gain | 1.0000 |
| 6:36715601:G:GT | donor_gain | 1.0000 |
| 6:36715651:CAAGT:C | donor_loss | 1.0000 |
| 6:36715652:AA:A | donor_gain | 1.0000 |
| 6:36715652:AAG:A | donor_loss | 1.0000 |
| 6:36715653:AGTA:A | donor_loss | 1.0000 |
| 6:36715654:G:GG | donor_gain | 1.0000 |
| 6:36715654:GT:G | donor_loss | 1.0000 |
| 6:36715655:T:A | donor_loss | 1.0000 |
| 6:36717270:CA:C | acceptor_loss | 1.0000 |
| 6:36717271:A:AG | acceptor_gain | 1.0000 |
| 6:36717272:G:GT | acceptor_gain | 1.0000 |
| 6:36717272:GGC:G | acceptor_gain | 1.0000 |
| 6:36717272:GGCA:G | acceptor_gain | 1.0000 |
| 6:36717394:G:GT | donor_gain | 1.0000 |
| 6:36717415:AGGAA:A | donor_gain | 1.0000 |
| 6:36717416:GGAA:G | donor_gain | 1.0000 |
| 6:36717416:GGAAG:G | donor_gain | 1.0000 |
| 6:36717417:G:T | donor_gain | 1.0000 |
| 6:36717417:GAA:G | donor_gain | 1.0000 |
| 6:36717417:GAAG:G | donor_gain | 1.0000 |
AlphaMissense
6591 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:36722671:A:T | K846I | 0.999 |
| 6:36725925:A:C | D888A | 0.997 |
| 6:36725925:A:T | D888V | 0.997 |
| 6:36722652:G:A | G840R | 0.996 |
| 6:36722652:G:C | G840R | 0.996 |
| 6:36722653:G:A | G840E | 0.996 |
| 6:36722653:G:T | G840V | 0.996 |
| 6:36722672:A:C | K846N | 0.996 |
| 6:36722672:A:T | K846N | 0.996 |
| 6:36704423:T:A | V63D | 0.995 |
| 6:36725924:G:C | D888H | 0.995 |
| 6:36727627:T:C | L911P | 0.995 |
| 6:36727632:T:G | Y913D | 0.995 |
| 6:36722671:A:C | K846T | 0.994 |
| 6:36725913:T:C | L884P | 0.994 |
| 6:36727636:A:T | D914V | 0.994 |
| 6:36722641:T:A | V836D | 0.992 |
| 6:36722668:G:A | G845D | 0.992 |
| 6:36722668:G:T | G845V | 0.992 |
| 6:36727653:A:C | S920R | 0.992 |
| 6:36727655:C:A | S920R | 0.992 |
| 6:36727655:C:G | S920R | 0.992 |
| 6:36722670:A:C | K846Q | 0.991 |
| 6:36722680:T:C | F849S | 0.991 |
| 6:36725925:A:G | D888G | 0.991 |
| 6:36725924:G:T | D888Y | 0.990 |
| 6:36727674:T:A | W927R | 0.990 |
| 6:36727674:T:C | W927R | 0.990 |
| 6:36728744:G:C | K947N | 0.990 |
| 6:36728744:G:T | K947N | 0.990 |
dbSNP variants (sampled 300 via entrez): RS1000041053 (6:36699512 G>A,C), RS1000098835 (6:36705086 A>C,T), RS1000158524 (6:36719246 G>A), RS1000212932 (6:36704865 A>G), RS1000285436 (6:36711208 A>G), RS1000379554 (6:36701688 C>A), RS1000384016 (6:36732708 C>G), RS1000408445 (6:36708093 T>A), RS1000459835 (6:36720282 G>A), RS1000522823 (6:36703331 T>C), RS1000559365 (6:36699296 C>A,T), RS1000743433 (6:36715504 C>A,T), RS1000798981 (6:36710982 C>T), RS1000801189 (6:36709867 G>A), RS1000856940 (6:36732646 G>A)
Disease associations
OMIM: gene `` | disease phenotypes: MIM:607174
GenCC curated gene-disease
Mondo (1): familial meningioma (MONDO:0011789)
Orphanet (1): Familial multiple meningioma (Orphanet:263662)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST009187_2 | Lateral occipital cortex volume | 3.000000e-06 |
| GCST010041_1 | Cortical thickness | 3.000000e-07 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004840 | cortical thickness |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C537443 | Meningioma, familial (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
12 total (human), top 12 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| theaflavin-3,3’-digallate | affects expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Atrazine | increases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Okadaic Acid | increases expression | 1 |
Clinical trials (associated diseases)
127 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04081701 | PHASE4 | RECRUITING | 68-Ga DOTATATE PET/MRI in the Diagnosis and Management of Somatostatin Receptor Positive CNS Tumors. |
| NCT04386642 | PHASE4 | UNKNOWN | Tranexamic Acid Reduce Blood Loss in Meningioma Resection |
| NCT06377371 | PHASE4 | RECRUITING | Feasibility of Intraoperative Tracing of Meningioma Using [Cu64]DOTATATE |
| NCT00517959 | PHASE3 | UNKNOWN | SCRT Versus Conventional RT in Children and Young Adults With Low Grade and Benign Brain Tumors |
| NCT01655927 | PHASE3 | UNKNOWN | Efficacy of Tranexamic Acid in Brain Tumor Resections |
| NCT03015701 | PHASE3 | COMPLETED | S9005 Mifepristone in Meningioma |
| NCT03558516 | PHASE3 | COMPLETED | Magnesium and Intraoperative Blood Loss in Meningioma Surgery |
| NCT04305470 | PHASE3 | COMPLETED | Gleolan for Visualization of Newly Diagnosed or Recurrent Meningioma |
| NCT00003483 | PHASE2 | TERMINATED | Antineoplaston Therapy in Treating Patients With Meningioma |
| NCT00589784 | PHASE2 | COMPLETED | Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma |
| NCT00706810 | PHASE2 | COMPLETED | Combination of Hydroxyurea and Verapamil for Refractory Meningiomas |
| NCT00859040 | PHASE2 | COMPLETED | Monthly SOM230C for Recurrent or Progressive Meningioma |
| NCT01967823 | PHASE2 | COMPLETED | T Cell Receptor Immunotherapy Targeting NY-ESO-1 for Patients With NY-ESO-1 Expressing Cancer |
| NCT02523014 | PHASE2 | RECRUITING | Vismodegib, FAK Inhibitor GSK2256098, Capivasertib, and Abemaciclib in Treating Patients With Progressive Meningiomas |
| NCT02648997 | PHASE2 | ACTIVE_NOT_RECRUITING | An Open-Label Phase II Study of Nivolumab or Nivolumab/Ipilimumab in Adult Participants With Progessive/ Recurrent Meningioma |
| NCT02831257 | PHASE2 | COMPLETED | AZD2014 In NF2 Patients With Progressive or Symptomatic Meningiomas |
| NCT02847559 | PHASE2 | RECRUITING | Optune Delivered Electric Field Therapy and Bevacizumab in Treating Patients With Recurrent or Progressive Grade 2 or 3 Meningioma |
| NCT03013387 | PHASE2 | WITHDRAWN | Dosimetry Guided PRRT With 90Y-DOTATOC |
| NCT03071874 | PHASE2 | UNKNOWN | Vistusertib (AZD2014) For Recurrent Grade II-III Meningiomas |
| NCT03095248 | PHASE2 | TERMINATED | Trial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors |
| NCT03273712 | PHASE2 | COMPLETED | Dosimetry-Guided, Peptide Receptor Radiotherapy (PRRT) With 90Y-DOTA- tyr3-Octreotide (90Y-DOTATOC) |
| NCT03971461 | PHASE2 | ACTIVE_NOT_RECRUITING | Phase II Study of 177Lu-DOTATATE Radionuclide in Adults With Progressive or High-risk Meningioma |
| NCT04082520 | PHASE2 | RECRUITING | Lutathera for the Treatment of Inoperable, Progressive Meningioma After External Beam Radiation Therapy |
| NCT04298541 | PHASE2 | NOT_YET_RECRUITING | Direct Comparison of Ga-68-DOTATATE and Ga-68-DOTATOC |
| NCT04374305 | PHASE2 | RECRUITING | Innovative Trial for Understanding the Impact of Targeted Therapies in NF2-Related Schwannomatosis (INTUITT-NF2) |
| NCT04659811 | PHASE2 | ACTIVE_NOT_RECRUITING | Stereotactic Radiosurgery and Immunotherapy (Pembrolizumab) for the Treatment of Recurrent Meningioma |
| NCT05425004 | PHASE2 | RECRUITING | Cabozantinib for Patients With Recurrent or Progressive Meningioma |
| NCT05940493 | PHASE2 | RECRUITING | Abemaciclib in Newly Diagnosed Meningioma Patients |
| NCT06012929 | PHASE2 | WITHDRAWN | A Study of ONC201 for Refractory Meningioma |
| NCT06126588 | PHASE2 | RECRUITING | Combination of Everolimus and 177Lu-DOTATATE in the Treatment of Grades 2 and 3 Refractory Meningioma: a Phase IIb Clinical Trial |
| NCT06132685 | PHASE2 | RECRUITING | Post-Operative Dosing of Dexamethasone in Patients With Brain Tumors After a Craniotomy, PODS Trial |
| NCT06322342 | PHASE2 | COMPLETED | Phase 2 Ascending Dose Safety and Efficacy Study of RVP-001, a Manganese-based MRI Contrast Agent |
| NCT06326190 | PHASE2 | RECRUITING | 177Lu-DOTATATE for Recurrent Meningioma |
| NCT06439420 | PHASE2 | COMPLETED | CBT-I in Primary Brain Tumor Patients: Phase IIc Randomized Feasibility Pilot Trial |
| NCT06684795 | PHASE2 | RECRUITING | FG001 in Subjects with Meningiomas or Presumed Low-Grade Gliomas Scheduled for Neurosurgery |
| NCT06710249 | PHASE2 | RECRUITING | Impact of Salovum® and SPC® Flakes on Brain Tumor Induced Edema |
| NCT06804655 | PHASE2 | NOT_YET_RECRUITING | Pharmacoscopy for Patients With Refractory Primary Brain Tumors |
| NCT07428616 | PHASE2 | RECRUITING | A Study of Zanzalintinib in Participants With Recurrent or Progressive Meningioma |
| NCT07533942 | PHASE2 | NOT_YET_RECRUITING | A Study of JZP3507 (ONC206) in Recurrent Grade 2 or 3 Meningioma |
| NCT03267836 | PHASE1 | TERMINATED | Neoadjuvant Avelumab and Hypofractionated Proton Radiation Therapy Followed by Surgery for Recurrent Radiation-refractory Meningioma |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): familial meningioma