GAREM2
geneOn this page
Also known as KIAA2038FLJ00375
Summary
GAREM2 (GRB2 associated regulator of MAPK1 subtype 2, HGNC:27172) is a protein-coding gene on chromosome 2p23.3, encoding GRB2-associated and regulator of MAPK protein 2 (Q75VX8). Probable adapter protein that may provide a link between cell surface epidermal growth factor receptor and the MAPK/ERK signaling pathway.
Predicted to act upstream of or within several processes, including cognition; neuron projection extension; and social behavior.
Source: NCBI Gene 150946 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 426 total — 32 pathogenic, 43 likely-pathogenic
- MANE Select transcript:
NM_001168241
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:27172 |
| Approved symbol | GAREM2 |
| Name | GRB2 associated regulator of MAPK1 subtype 2 |
| Location | 2p23.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA2038, FLJ00375 |
| Ensembl gene | ENSG00000157833 |
| Ensembl biotype | protein_coding |
| OMIM | 617999 |
| Entrez | 150946 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000401533, ENST00000407684, ENST00000496070
RefSeq mRNA: 2 — MANE Select: NM_001168241
NM_001168241, NM_001191033
CCDS: CCDS54336, CCDS54337
Canonical transcript exons
ENST00000401533 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000730265 | 26186189 | 26186358 |
| ENSE00001035337 | 26184233 | 26185276 |
| ENSE00001035341 | 26182967 | 26183097 |
| ENSE00001485856 | 26187231 | 26189663 |
| ENSE00001485865 | 26176344 | 26176484 |
| ENSE00001485869 | 26173088 | 26173332 |
Expression profiles
Bgee: expression breadth ubiquitous, 187 present calls, max score 95.59.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.1852 / max 54.6453, expressed in 1333 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 19251 | 2.2393 | 503 |
| 19253 | 2.1823 | 944 |
| 19252 | 1.7636 | 826 |
Top tissues by expression
251 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ventricular zone | UBERON:0003053 | 95.59 | gold quality |
| ganglionic eminence | UBERON:0004023 | 91.80 | gold quality |
| caudate nucleus | UBERON:0001873 | 84.61 | gold quality |
| amygdala | UBERON:0001876 | 84.43 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 84.06 | gold quality |
| putamen | UBERON:0001874 | 83.61 | gold quality |
| hypothalamus | UBERON:0001898 | 83.39 | gold quality |
| nucleus accumbens | UBERON:0001882 | 83.21 | gold quality |
| medial globus pallidus | UBERON:0002477 | 82.94 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 82.48 | gold quality |
| secondary oocyte | CL:0000655 | 82.39 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 82.36 | gold quality |
| oocyte | CL:0000023 | 82.10 | gold quality |
| right frontal lobe | UBERON:0002810 | 82.03 | gold quality |
| substantia nigra | UBERON:0002038 | 81.28 | gold quality |
| spinal cord | UBERON:0002240 | 80.91 | gold quality |
| cortical plate | UBERON:0005343 | 80.24 | gold quality |
| temporal lobe | UBERON:0001871 | 80.12 | gold quality |
| globus pallidus | UBERON:0001875 | 79.38 | gold quality |
| midbrain | UBERON:0001891 | 79.28 | gold quality |
| neocortex | UBERON:0001950 | 79.22 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 78.80 | gold quality |
| Ammon’s horn | UBERON:0001954 | 78.71 | gold quality |
| cerebral cortex | UBERON:0000956 | 78.62 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 78.58 | gold quality |
| forebrain | UBERON:0001890 | 78.51 | gold quality |
| frontal cortex | UBERON:0001870 | 78.29 | gold quality |
| prefrontal cortex | UBERON:0000451 | 78.15 | gold quality |
| stromal cell of endometrium | CL:0002255 | 77.54 | gold quality |
| brain | UBERON:0000955 | 77.48 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.54 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
59 targeting GAREM2, 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-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-577 | 99.78 | 69.13 | 2479 |
| HSA-MIR-3714 | 99.71 | 70.74 | 2671 |
| HSA-MIR-1179 | 99.71 | 68.70 | 1040 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-4716-3P | 99.69 | 66.73 | 1022 |
| HSA-MIR-12124 | 99.68 | 69.17 | 2700 |
| HSA-MIR-6134 | 99.63 | 65.68 | 1537 |
| HSA-MIR-1827 | 99.63 | 68.57 | 3265 |
| HSA-MIR-6132 | 99.60 | 65.83 | 1554 |
| HSA-MIR-6836-5P | 99.60 | 65.62 | 1538 |
| HSA-MIR-766-5P | 99.47 | 67.91 | 2225 |
| HSA-MIR-516A-3P | 99.46 | 67.96 | 1378 |
| HSA-MIR-516B-3P | 99.46 | 67.96 | 1378 |
| HSA-MIR-7162-5P | 99.46 | 68.08 | 1368 |
| HSA-MIR-4316 | 99.37 | 65.75 | 1360 |
| HSA-MIR-122B-3P | 99.21 | 68.90 | 1333 |
| HSA-MIR-4291 | 99.20 | 68.88 | 2969 |
| HSA-MIR-6815-3P | 99.13 | 68.98 | 1530 |
| HSA-MIR-4651 | 99.06 | 67.57 | 2002 |
| HSA-MIR-608 | 98.93 | 67.83 | 2013 |
| HSA-MIR-2276-3P | 98.76 | 67.75 | 1384 |
| HSA-MIR-6501-3P | 98.71 | 67.45 | 1480 |
| HSA-MIR-6818-3P | 98.56 | 68.23 | 1307 |
| HSA-MIR-6776-5P | 98.54 | 67.43 | 1304 |
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gareml | ENSDARG00000073933 |
| mus_musculus | Garem2 | ENSMUSG00000044576 |
| rattus_norvegicus | Garem2 | ENSRNOG00000048004 |
Paralogs (1): GAREM1 (ENSG00000141441)
Protein
Protein identifiers
GRB2-associated and regulator of MAPK protein 2 — Q75VX8 (reviewed: Q75VX8)
Alternative names: GRB2-associated and regulator of MAPK1-like
All UniProt accessions (1): Q75VX8
UniProt curated annotations — full annotation on UniProt →
Function. Probable adapter protein that may provide a link between cell surface epidermal growth factor receptor and the MAPK/ERK signaling pathway.
Similarity. Belongs to the GAREM family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q75VX8-1 | 1 | yes |
| Q75VX8-2 | 2 | |
| Q75VX8-3 | 3 |
RefSeq proteins (2): NP_001161713, NP_001177962 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013761 | SAM/pointed_sf | Homologous_superfamily |
| IPR025946 | CABIT_dom | Domain |
| IPR052281 | GAREM | Family |
Pfam: PF12736
UniProt features (23 total): compositionally biased region 6, region of interest 6, sequence conflict 5, splice variant 3, chain 1, domain 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q75VX8-F1 | 61.81 | 0.29 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 735
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 65 (showing top):
GOBP_COGNITION, GOBP_BEHAVIOR, GOBP_NEURON_PROJECTION_EXTENSION, GOBP_GROWTH, GOBP_NEUROGENESIS, GOBP_BIOLOGICAL_PROCESS_INVOLVED_IN_INTRASPECIES_INTERACTION_BETWEEN_ORGANISMS, GOBP_DEVELOPMENTAL_CELL_GROWTH, GOBP_CELL_PROJECTION_ORGANIZATION, GOBP_DEVELOPMENTAL_GROWTH_INVOLVED_IN_MORPHOGENESIS, GOBP_CELL_GROWTH, GEORGES_TARGETS_OF_MIR192_AND_MIR215, GOBP_DEVELOPMENTAL_GROWTH, GOBERT_OLIGODENDROCYTE_DIFFERENTIATION_DN, PLASARI_TGFB1_TARGETS_10HR_UP, E2F5_TARGET_GENES
GO Biological Process (4): response to stress (GO:0006950), social behavior (GO:0035176), cognition (GO:0050890), neuron projection extension (GO:1990138)
GO Molecular Function (0):
GO Cellular Component (0):
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| response to stimulus | 1 |
| behavior | 1 |
| biological process involved in intraspecies interaction between organisms | 1 |
| nervous system process | 1 |
| developmental cell growth | 1 |
| neuron projection morphogenesis | 1 |
| developmental growth involved in morphogenesis | 1 |
Protein interactions and networks
STRING
632 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GAREM2 | FAM24A | A6NFZ4 | 511 |
| GAREM2 | THEMIS2 | Q5TEJ8 | 475 |
| GAREM2 | ZNF562 | Q6V9R5 | 434 |
| GAREM2 | PM20D1 | Q6GTS8 | 373 |
| GAREM2 | MAB21L3 | Q8N8X9 | 372 |
| GAREM2 | KLHL35 | Q6PF15 | 355 |
| GAREM2 | FAM53A | Q6NSI3 | 349 |
| GAREM2 | TTC23 | Q5W5X9 | 348 |
| GAREM2 | RNF182 | Q8N6D2 | 324 |
| GAREM2 | OR2L13 | Q8N349 | 309 |
| GAREM2 | CWC25 | Q9NXE8 | 308 |
| GAREM2 | PIGZ | Q86VD9 | 304 |
| GAREM2 | MVB12A | Q96EY5 | 303 |
| GAREM2 | UMODL1 | Q5DID0 | 300 |
| GAREM2 | SPATA19 | Q7Z5L4 | 296 |
IntAct
8 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GRB2 | WIPF3 | psi-mi:“MI:0914”(association) | 0.730 |
| GRB2 | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.530 |
| SYNGAP1 | POM121C | psi-mi:“MI:0914”(association) | 0.350 |
| GAREM1 | TNKS | psi-mi:“MI:0914”(association) | 0.350 |
| GAREM1 | SCGB1D2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (27): GAREML (Affinity Capture-MS), GRB2 (Affinity Capture-Western), PTPN11 (Affinity Capture-Western), GAREML (Affinity Capture-MS), GAREML (Affinity Capture-MS), GAREML (Affinity Capture-MS), GAREML (Affinity Capture-MS), GAREML (Affinity Capture-RNA), GAREML (Affinity Capture-MS), GAREML (Proximity Label-MS), GAREML (Proximity Label-MS), GAREML (Proximity Label-MS), GAREML (Proximity Label-MS), GAREML (Proximity Label-MS), GAREML (Proximity Label-MS)
ESM2 similar proteins: A0A0U1RQ45, A0A1B0GWB2, A2A9T0, A6QPA0, A7MCY6, D3ZFB6, E9PUL5, E9Q0B3, F5GYI3, F5H4A9, J3QNX5, O70142, P0C1G7, P81408, P97764, P98077, Q148V8, Q15654, Q2KI80, Q3SX26, Q3SZL6, Q4V9L6, Q5FVJ4, Q5FW56, Q5RAC1, Q5T7N3, Q6DG50, Q6PAJ3, Q6PJ61, Q6ZMQ8, Q6ZNR0, Q6ZRV2, Q75VX8, Q7Z6L0, Q86UK7, Q86VE0, Q8BGW2, Q8BRJ3, Q8BX43, Q8C0R7
Diamond homologs: Q3UFT3, Q6NRE4, Q6PAJ3, Q75VX8, Q7ZVU1, Q9H706
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
426 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 32 |
| Likely pathogenic | 43 |
| Uncertain significance | 126 |
| Likely benign | 149 |
| Benign | 27 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1069908 | NM_000182.5(HADHA):c.1523del (p.Leu508fs) | Pathogenic |
| 1073572 | NM_000182.5(HADHA):c.1319dup (p.Ala441fs) | Pathogenic |
| 1075355 | NM_000182.5(HADHA):c.1528G>T (p.Glu510Ter) | Pathogenic |
| 1386792 | NM_000182.5(HADHA):c.1654dup (p.Ala552fs) | Pathogenic |
| 1390752 | NM_000182.5(HADHA):c.2200A>T (p.Lys734Ter) | Pathogenic |
| 1455936 | NM_000182.5(HADHA):c.1491_1495dup (p.Tyr499fs) | Pathogenic |
| 1459829 | NM_000182.5(HADHA):c.1540del (p.Thr514fs) | Pathogenic |
| 188712 | NM_000182.5(HADHA):c.1967del (p.Ile655_Leu656insTer) | Pathogenic |
| 194808 | NM_000182.5(HADHA):c.1918C>T (p.Gln640Ter) | Pathogenic |
| 194917 | NM_000182.5(HADHA):c.2146+1G>A | Pathogenic |
| 2020384 | NM_000182.5(HADHA):c.2010del (p.Asp670fs) | Pathogenic |
| 2025539 | NC_000002.12:g.26201318_26201321del | Pathogenic |
| 2101164 | NM_000182.5(HADHA):c.2231del (p.Phe744fs) | Pathogenic |
| 2675968 | NM_000182.5(HADHA):c.1533dup (p.Ile512fs) | Pathogenic |
| 2921383 | NM_000182.5(HADHA):c.2011del (p.Glu671fs) | Pathogenic |
| 2922371 | NM_000182.5(HADHA):c.1361_1364dup (p.Lys455delinsAsnTer) | Pathogenic |
| 2934638 | NM_000182.5(HADHA):c.1231_1235del (p.Lys411fs) | Pathogenic |
| 2941242 | NM_000182.5(HADHA):c.2039_2040dup (p.Phe681fs) | Pathogenic |
| 2942406 | NM_000182.5(HADHA):c.1183dup (p.Thr395fs) | Pathogenic |
| 2943817 | NM_000182.5(HADHA):c.2063_2087dup (p.Glu699fs) | Pathogenic |
| 2947613 | NM_000182.5(HADHA):c.1249del (p.Ala416_Leu417insTer) | Pathogenic |
| 2950171 | NM_000182.5(HADHA):c.1921del (p.Glu641fs) | Pathogenic |
| 371597 | NM_000182.5(HADHA):c.1915_1918del (p.Tyr639fs) | Pathogenic |
| 3754541 | NM_000182.5(HADHA):c.1889del (p.Arg630fs) | Pathogenic |
| 4081703 | NM_000182.5(HADHA):c.1249_1259del (p.Ala416_Leu417insTer) | Pathogenic |
| 432660 | NM_000182.5(HADHA):c.1427_1428del (p.Thr476fs) | Pathogenic |
| 4784257 | NM_000182.5(HADHA):c.1586dup (p.Leu530fs) | Pathogenic |
| 801655 | NM_000182.5(HADHA):c.1689+2T>G | Pathogenic |
| 848128 | NM_000182.5(HADHA):c.1690-17_1690-2del | Pathogenic |
| 8729 | NM_000182.5(HADHA):c.1132C>T (p.Gln378Ter) | Pathogenic |
SpliceAI
1212 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:26173330:CAG:C | donor_loss | 1.0000 |
| 2:26173331:AGG:A | donor_loss | 1.0000 |
| 2:26173332:GGT:G | donor_loss | 1.0000 |
| 2:26173333:G:GA | donor_loss | 1.0000 |
| 2:26173334:T:G | donor_loss | 1.0000 |
| 2:26176342:A:AC | acceptor_loss | 1.0000 |
| 2:26176342:A:AG | acceptor_gain | 1.0000 |
| 2:26176342:AG:A | acceptor_gain | 1.0000 |
| 2:26176342:AGG:A | acceptor_gain | 1.0000 |
| 2:26176343:G:GG | acceptor_gain | 1.0000 |
| 2:26176343:GG:G | acceptor_gain | 1.0000 |
| 2:26176343:GGG:G | acceptor_gain | 1.0000 |
| 2:26176343:GGGGA:G | acceptor_gain | 1.0000 |
| 2:26176484:GGTG:G | donor_loss | 1.0000 |
| 2:26176485:GT:G | donor_loss | 1.0000 |
| 2:26176486:T:A | donor_loss | 1.0000 |
| 2:26182962:TGCA:T | acceptor_loss | 1.0000 |
| 2:26182964:CA:C | acceptor_loss | 1.0000 |
| 2:26182965:A:AT | acceptor_loss | 1.0000 |
| 2:26182966:GGGAA:G | acceptor_gain | 1.0000 |
| 2:26183095:AAG:A | donor_loss | 1.0000 |
| 2:26183096:AG:A | donor_loss | 1.0000 |
| 2:26183097:GG:G | donor_loss | 1.0000 |
| 2:26183099:T:G | donor_loss | 1.0000 |
| 2:26188064:T:TA | acceptor_gain | 1.0000 |
| 2:26176323:T:TA | acceptor_gain | 0.9900 |
| 2:26176342:AGGG:A | acceptor_gain | 0.9900 |
| 2:26176343:GGGG:G | acceptor_gain | 0.9900 |
| 2:26176480:CCCAG:C | donor_gain | 0.9900 |
| 2:26182961:AT:A | acceptor_gain | 0.9900 |
AlphaMissense
5557 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:26176383:T:C | L51P | 1.000 |
| 2:26176403:T:A | W58R | 1.000 |
| 2:26176403:T:C | W58R | 1.000 |
| 2:26176419:C:A | A63D | 1.000 |
| 2:26176428:T:C | L66P | 1.000 |
| 2:26176446:T:A | V72D | 1.000 |
| 2:26176449:T:A | I73N | 1.000 |
| 2:26176451:G:A | G74R | 1.000 |
| 2:26176451:G:C | G74R | 1.000 |
| 2:26176451:G:T | G74W | 1.000 |
| 2:26176452:G:A | G74E | 1.000 |
| 2:26176452:G:T | G74V | 1.000 |
| 2:26176467:T:A | I79N | 1.000 |
| 2:26176467:T:G | I79S | 1.000 |
| 2:26182972:T:C | F87L | 1.000 |
| 2:26182973:T:C | F87S | 1.000 |
| 2:26182973:T:G | F87C | 1.000 |
| 2:26182974:C:A | F87L | 1.000 |
| 2:26182974:C:G | F87L | 1.000 |
| 2:26184282:T:C | L145P | 1.000 |
| 2:26184300:T:A | L151H | 1.000 |
| 2:26184300:T:C | L151P | 1.000 |
| 2:26184491:T:C | C215R | 1.000 |
| 2:26184495:T:A | L216H | 1.000 |
| 2:26184495:T:C | L216P | 1.000 |
| 2:26184500:T:C | C218R | 1.000 |
| 2:26184502:C:G | C218W | 1.000 |
| 2:26184534:T:A | L229Q | 1.000 |
| 2:26184534:T:C | L229P | 1.000 |
| 2:26184557:T:C | F237L | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000037528 (2:26193496 C>T), RS1000056377 (2:26197949 C>T), RS1000185624 (2:26190517 C>T), RS1000272229 (2:26190360 T>A,C), RS1000297620 (2:26192008 G>A,T), RS1000426259 (2:26178890 G>GGAGGCGGAGGCGGAGGCA), RS1000475423 (2:26195956 C>T), RS1000567035 (2:26203173 G>A), RS1000578393 (2:26202820 A>G), RS1000758791 (2:26183799 C>A,G,T), RS1000969850 (2:26172622 C>A,G,T), RS1000980828 (2:26171623 G>A,C), RS1001105832 (2:26172010 C>A,G,T), RS1001167089 (2:26178011 G>A), RS1001192623 (2:26184169 G>A)
Disease associations
OMIM: gene MIM:617999 | disease phenotypes: MIM:609015, MIM:609016, MIM:614728
GenCC curated gene-disease
Mondo (5): metabolic disease (MONDO:0005066), mitochondrial trifunctional protein deficiency (MONDO:0012172), long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (MONDO:0012173), mitochondrial trifunctional protein deficiency 1 (MONDO:0958181), Seckel syndrome 6 (MONDO:0013871)
Orphanet (2): Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (Orphanet:5), Mitochondrial trifunctional protein deficiency (Orphanet:746)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008659 | Metabolic Diseases | C18.452 |
| C566945 | Trifunctional Protein Deficiency With Myopathy And Neuropathy (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
14 total (human), top 14 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases expression | 2 |
| Estradiol | increases expression, affects cotreatment | 2 |
| triphenyl phosphate | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Methotrexate | increases expression | 1 |
| Thimerosal | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Aflatoxin B1 | increases expression | 1 |
| Cadmium Chloride | increases expression | 1 |
| Acrylamide | decreases expression | 1 |
| Particulate Matter | increases abundance, increases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00192621 | PHASE4 | COMPLETED | Seronegatives and Metabolic Abnormalities Protocol 2 (SAMA002): Study to Compare the Effect of Kaletra and Combivir® in HIV-Negative Healthy Subjects |
| NCT01443806 | PHASE4 | COMPLETED | Characterisation of the Human Carboxylesterase 1 (CES1) Mutations in Thailand |
| NCT02645279 | PHASE4 | UNKNOWN | Comparison of Oral 30 % Dextrose and iv Midazolam Sedation During MRI in Neonates |
| NCT04653779 | PHASE4 | UNKNOWN | A Clinical Trial to Evaluate the Preference Regarding Convenience of Medication and Efficacy/Safety of SUGAMET®XR Tablet 5/1000mg |
| NCT05084079 | PHASE4 | UNKNOWN | Different Initial Insulin Dose Regimens on Time to Achieve Glycemic Targets and Treatment Safety in SIIT |
| NCT05855577 | PHASE4 | NOT_YET_RECRUITING | Motor Function Efficacy of Pharmacological Treatments Targeting Energy Metabolism, in Parkinson’s Patients |
| NCT06003153 | PHASE4 | RECRUITING | GLUCOSE-MGH: Genetic Links Understood Through Challenge With Oral Semaglutide Exposure at MGH |
| NCT06009653 | PHASE4 | WITHDRAWN | Effects of Tirzepatide Plus Intensive Lifestyle Therapy on Body Weight and Metabolic Health in Latinos With Obesity |
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Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, metabolic disease, mitochondrial trifunctional protein deficiency, mitochondrial trifunctional protein deficiency 1, Seckel syndrome 6