LAGE3
geneOn this page
Also known as ITBA2CVG5DXS9951EDXS9879EESO3Pcc1
Summary
LAGE3 (L antigen family member 3, HGNC:26058) is a protein-coding gene on chromosome Xq28, encoding EKC/KEOPS complex subunit LAGE3 (Q14657). Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. It is a selective cancer dependency (DepMap: 11.3% of cell lines).
This gene belongs to the ESO/LAGE gene family, members of which are clustered together on chromosome Xq28, and have similar exon-intron structures. Unlike the other family members which are normally expressed only in testis and activated in a wide range of human tumors, this gene is ubiquitously expressed in somatic tissues. The latter, combined with the finding that it is highly conserved in mouse and rat, suggests that the encoded protein is functionally important. An intronless pseudogene with high sequence similarity to this gene is located on chromosome 9.
Source: NCBI Gene 8270 — RefSeq curated summary.
At a glance
- Gene–disease (curated): Galloway-Mowat syndrome 2, X-linked (Strong, GenCC) — +1 more curated relationship
- Clinical variants (ClinVar): 109 total — 3 pathogenic
- Phenotypes (HPO): 49
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 11.3% of screened cell lines
- MANE Select transcript:
NM_006014
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26058 |
| Approved symbol | LAGE3 |
| Name | L antigen family member 3 |
| Location | Xq28 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ITBA2, CVG5, DXS9951E, DXS9879E, ESO3, Pcc1 |
| Ensembl gene | ENSG00000196976 |
| Ensembl biotype | protein_coding |
| OMIM | 300060 |
| Entrez | 8270 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000357360
RefSeq mRNA: 1 — MANE Select: NM_006014
NM_006014
CCDS: CCDS14753
Canonical transcript exons
ENST00000357360 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001408883 | 154478283 | 154478411 |
| ENSE00001431841 | 154478728 | 154479281 |
| ENSE00001929073 | 154477775 | 154478058 |
Expression profiles
Bgee: expression breadth ubiquitous, 273 present calls, max score 98.23.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.4745 / max 179.3704, expressed in 1808 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 201029 | 11.0139 | 1736 |
| 201028 | 9.6523 | 1755 |
| 201025 | 4.6404 | 1453 |
| 201026 | 2.2392 | 1069 |
| 201032 | 1.8785 | 965 |
| 201031 | 0.4757 | 275 |
| 201027 | 0.3793 | 221 |
| 201030 | 0.1952 | 81 |
Top tissues by expression
292 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 98.23 | gold quality |
| secondary oocyte | CL:0000655 | 95.55 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 94.69 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 93.97 | gold quality |
| endometrium epithelium | UBERON:0004811 | 93.53 | gold quality |
| frontal pole | UBERON:0002795 | 93.37 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 92.96 | gold quality |
| cingulate cortex | UBERON:0003027 | 92.93 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 92.41 | gold quality |
| nucleus accumbens | UBERON:0001882 | 91.94 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 91.92 | gold quality |
| right frontal lobe | UBERON:0002810 | 91.66 | gold quality |
| putamen | UBERON:0001874 | 91.60 | gold quality |
| endothelial cell | CL:0000115 | 91.55 | gold quality |
| amygdala | UBERON:0001876 | 91.51 | gold quality |
| caudate nucleus | UBERON:0001873 | 91.35 | gold quality |
| prefrontal cortex | UBERON:0000451 | 90.88 | gold quality |
| neocortex | UBERON:0001950 | 90.75 | gold quality |
| frontal cortex | UBERON:0001870 | 90.61 | gold quality |
| cerebral cortex | UBERON:0000956 | 90.47 | gold quality |
| telencephalon | UBERON:0001893 | 90.19 | gold quality |
| pituitary gland | UBERON:0000007 | 90.14 | gold quality |
| Ammon’s horn | UBERON:0001954 | 90.08 | gold quality |
| forebrain | UBERON:0001890 | 89.95 | gold quality |
| temporal lobe | UBERON:0001871 | 89.64 | gold quality |
| paraflocculus | UBERON:0005351 | 89.63 | gold quality |
| adenohypophysis | UBERON:0002196 | 89.61 | gold quality |
| brain | UBERON:0000955 | 88.95 | gold quality |
| central nervous system | UBERON:0001017 | 88.91 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 88.74 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-112 | yes | 9.98 |
| E-ANND-3 | yes | 8.78 |
| E-CURD-10 | no | 52.21 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
15 targeting LAGE3, 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-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-802 | 99.61 | 67.70 | 1254 |
| HSA-MIR-4328 | 99.57 | 71.06 | 4094 |
| HSA-MIR-548B-3P | 99.38 | 67.26 | 1000 |
| HSA-MIR-20B-3P | 99.29 | 67.05 | 784 |
| HSA-MIR-488-5P | 99.28 | 68.12 | 821 |
| HSA-MIR-6840-3P | 98.68 | 65.95 | 1923 |
| HSA-MIR-4290 | 98.51 | 65.17 | 907 |
| HSA-MIR-5008-5P | 98.42 | 65.87 | 1019 |
| HSA-MIR-4511 | 98.32 | 67.97 | 1500 |
| HSA-MIR-562 | 97.66 | 65.63 | 698 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 11.3% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 6)
- Upregulation of LAGE3 correlates with prognosis and immune infiltrates in colorectal cancer: A bioinformatic analysis. (PMID:32438075)
- LAGE3 correlates with tumorigenic immune infiltrates in the clear cell renal cell carcinoma microenvironment. (PMID:32683301)
- lncRNA NEAT1 regulates the proliferation and migration of hepatocellular carcinoma cells by acting as a miR320a molecular sponge and targeting L antigen family member 3. (PMID:32945386)
- Identification and validation of L Antigen Family Member 3 as an immune-related biomarker associated with the progression of papillary thyroid cancer. (PMID:33310661)
- LAGE3 promoted cell proliferation, migration, and invasion and inhibited cell apoptosis of hepatocellular carcinoma by facilitating the JNK and ERK signaling pathway. (PMID:34837962)
- LAGE3 promotes cell metastasis and stemness in non-small cell lung cancer companied with AKT/PI3K signaling pathway activation. (PMID:37473499)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ENSDARG00000116344 | |
| mus_musculus | Lage3 | ENSMUSG00000015289 |
| drosophila_melanogaster | Tcs6 | FBGN0260224 |
Paralogs (3): CTAG2 (ENSG00000126890), CTAG1B (ENSG00000184033), CTAG1A (ENSG00000268651)
Protein
Protein identifiers
EKC/KEOPS complex subunit LAGE3 — Q14657 (reviewed: Q14657)
Alternative names: L antigen family member 3, Protein ESO-3, Protein ITBA2
All UniProt accessions (1): Q14657
UniProt curated annotations — full annotation on UniProt →
Function. Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. LAGE3 functions as a dimerization module for the complex.
Subunit / interactions. Component of the EKC/KEOPS complex composed of at least GON7, TP53RK, TPRKB, OSGEP and LAGE3; the whole complex dimerizes.
Subcellular location. Cytoplasm. Nucleus.
Tissue specificity. Ubiquitous.
Disease relevance. Galloway-Mowat syndrome 2, X-linked (GAMOS2) [MIM:301006] A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the CTAG/PCC1 family.
RefSeq proteins (1): NP_006005* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR015419 | CTAG/Pcc1 | Family |
Pfam: PF09341
UniProt features (11 total): strand 3, helix 2, sequence variant 2, chain 1, region of interest 1, compositionally biased region 1, turn 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6GWJ | X-RAY DIFFRACTION | 1.95 |
| 9FL9 | ELECTRON MICROSCOPY | 3.74 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q14657-F1 | 76.32 | 0.45 |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-6782315 | tRNA modification in the nucleus and cytosol |
| R-HSA-72306 | tRNA processing |
| R-HSA-8953854 | Metabolism of RNA |
MSigDB gene sets: 231 (showing top):
BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, KAAB_FAILED_HEART_ATRIUM_DN, PAL_PRMT5_TARGETS_UP, GOBP_TRNA_METABOLIC_PROCESS, RIZKI_TUMOR_INVASIVENESS_3D_DN, PATIL_LIVER_CANCER, GOBP_TRANSLATION, WATANABE_RECTAL_CANCER_RADIOTHERAPY_RESPONSIVE_UP, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13, GOBP_TRNA_THREONYLCARBAMOYLADENOSINE_METABOLIC_PROCESS, HAN_SATB1_TARGETS_DN, MARKEY_RB1_ACUTE_LOF_UP, MARTORIATI_MDM4_TARGETS_FETAL_LIVER_UP, DANG_BOUND_BY_MYC, CONCANNON_APOPTOSIS_BY_EPOXOMICIN_DN
GO Biological Process (2): tRNA processing (GO:0008033), tRNA threonylcarbamoyladenosine metabolic process (GO:0070525)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (5): EKC/KEOPS complex (GO:0000408), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), nuclear body (GO:0016604)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| tRNA processing | 1 |
| Metabolism of RNA | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| tRNA metabolic process | 2 |
| cellular anatomical structure | 2 |
| RNA processing | 1 |
| binding | 1 |
| transferase complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| nucleoplasm | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
598 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LAGE3 | OSGEP | Q9NPF4 | 998 |
| LAGE3 | TPRKB | Q9Y3C4 | 998 |
| LAGE3 | TP53RK | Q96S44 | 997 |
| LAGE3 | GON7 | Q9BXV9 | 995 |
| LAGE3 | TMEM187 | Q14656 | 943 |
| LAGE3 | OSGEPL1 | Q9H4B0 | 852 |
| LAGE3 | YRDC | Q86U90 | 846 |
| LAGE3 | L1CAM | P32004 | 669 |
| LAGE3 | HCFC1 | P51610 | 666 |
| LAGE3 | WDR73 | Q6P4I2 | 628 |
| LAGE3 | FAM216A | Q8WUB2 | 497 |
| LAGE3 | TMEM101 | Q96IK0 | 445 |
| LAGE3 | SLCO6A1 | Q86UG4 | 432 |
| LAGE3 | CTAG2 | O75638 | 430 |
| LAGE3 | RPP40 | O75818 | 374 |
IntAct
124 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| UBA5 | GABARAPL2 | psi-mi:“MI:0914”(association) | 0.950 |
| LAGE3 | GON7 | psi-mi:“MI:0915”(physical association) | 0.880 |
| GON7 | LAGE3 | psi-mi:“MI:0915”(physical association) | 0.880 |
| LAGE3 | GON7 | psi-mi:“MI:0407”(direct interaction) | 0.880 |
| GON7 | LAGE3 | psi-mi:“MI:0407”(direct interaction) | 0.880 |
| GON7 | LAGE3 | psi-mi:“MI:0914”(association) | 0.880 |
| LAGE3 | OSGEP | psi-mi:“MI:0915”(physical association) | 0.850 |
| POP7 | LAGE3 | psi-mi:“MI:0915”(physical association) | 0.740 |
| KRT40 | LAGE3 | psi-mi:“MI:0915”(physical association) | 0.720 |
| LAGE3 | KRT40 | psi-mi:“MI:0915”(physical association) | 0.720 |
| IFT81 | NDC80 | psi-mi:“MI:0914”(association) | 0.640 |
| NAP1L5 | IQGAP1 | psi-mi:“MI:0914”(association) | 0.640 |
| VWCE | HSPA5 | psi-mi:“MI:0914”(association) | 0.640 |
| PSMB9 | LAGE3 | psi-mi:“MI:0915”(physical association) | 0.600 |
| LAGE3 | PDE9A | psi-mi:“MI:0915”(physical association) | 0.560 |
| PDE9A | LAGE3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP10-8 | LAGE3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP6-3 | LAGE3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GOLGA6L9 | LAGE3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LAGE3 | MID2 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (148): LAGE3 (Two-hybrid), KRT40 (Two-hybrid), LAGE3 (Affinity Capture-MS), LAGE3 (Affinity Capture-MS), LAGE3 (Co-fractionation), LAGE3 (Co-fractionation), LAGE3 (Co-fractionation), LAGE3 (Co-fractionation), LAGE3 (Co-fractionation), LAGE3 (Co-fractionation), LAGE3 (Co-fractionation), LAGE3 (Co-fractionation), LAGE3 (Co-fractionation), LAGE3 (Co-fractionation), LAGE3 (Affinity Capture-MS)
ESM2 similar proteins: A0JPP1, A1A4I4, A1A5B6, A4K436, A6QQ14, A6QQ47, C5IJB0, E1BSW7, O00459, O04173, O08908, O14908, O35465, P23726, P70268, Q12962, Q14318, Q14657, Q14919, Q16512, Q17QX2, Q1JQD7, Q32NY4, Q3B7U9, Q3MII6, Q3V1H9, Q496Y0, Q4R4E4, Q5C9Z4, Q5RE34, Q5XIU9, Q5ZIW1, Q63433, Q63788, Q6K461, Q6PZ03, Q6ZT62, Q7Z6J2, Q8CFK2, Q8HXH0
Diamond homologs: O75638, P78358, Q14657, Q9CR70, Q10220, Q6BNU4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
109 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 3 |
| Likely pathogenic | 0 |
| Uncertain significance | 56 |
| Likely benign | 18 |
| Benign | 10 |
Top pathogenic / likely-pathogenic (3)
| Variant ID | HGVS | Classification |
|---|---|---|
| 444871 | NM_006014.5(LAGE3):c.316G>T (p.Val106Phe) | Pathogenic |
| 444872 | NM_006014.5(LAGE3):c.410T>C (p.Phe137Ser) | Pathogenic |
| 444873 | NM_006014.5(LAGE3):c.188+1G>A | Pathogenic |
SpliceAI
350 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:154478056:CGG:C | acceptor_gain | 1.0000 |
| X:154478057:GG:G | acceptor_gain | 1.0000 |
| X:154478059:C:CC | acceptor_gain | 1.0000 |
| X:154478054:AGCGG:A | acceptor_gain | 0.9900 |
| X:154478055:GCGG:G | acceptor_gain | 0.9900 |
| X:154478056:CGGC:C | acceptor_gain | 0.9900 |
| X:154478058:GC:G | acceptor_loss | 0.9900 |
| X:154478059:C:CA | acceptor_loss | 0.9900 |
| X:154478060:T:G | acceptor_loss | 0.9900 |
| X:154478065:G:C | acceptor_gain | 0.9900 |
| X:154478065:G:GC | acceptor_gain | 0.9900 |
| X:154478667:T:A | donor_gain | 0.9800 |
| X:154478753:C:CA | donor_gain | 0.9800 |
| X:154479036:AGGTC:A | donor_gain | 0.9800 |
| X:154479040:C:A | donor_gain | 0.9700 |
| X:154478726:A:AC | donor_gain | 0.9600 |
| X:154478727:C:CC | donor_gain | 0.9600 |
| X:154479134:T:A | donor_gain | 0.9500 |
| X:154478721:AGGAT:A | donor_loss | 0.9400 |
| X:154478722:GGATA:G | donor_loss | 0.9400 |
| X:154478723:GAT:G | donor_loss | 0.9400 |
| X:154478724:ATA:A | donor_loss | 0.9400 |
| X:154478725:T:TG | donor_loss | 0.9400 |
| X:154478057:G:T | acceptor_gain | 0.9300 |
| X:154478382:A:T | acceptor_gain | 0.9300 |
| X:154478727:CA:C | donor_gain | 0.9300 |
| X:154478727:CAAT:C | donor_gain | 0.9300 |
| X:154478748:TG:T | donor_gain | 0.9300 |
| X:154478727:CAA:C | donor_gain | 0.9100 |
| X:154479164:A:C | donor_gain | 0.9000 |
AlphaMissense
910 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:154478367:G:T | A78D | 0.977 |
| X:154477965:A:C | F137L | 0.974 |
| X:154477965:A:T | F137L | 0.974 |
| X:154477967:A:G | F137L | 0.974 |
| X:154478393:G:C | F69L | 0.966 |
| X:154478393:G:T | F69L | 0.966 |
| X:154478395:A:G | F69L | 0.966 |
| X:154478054:A:G | W108R | 0.960 |
| X:154478054:A:T | W108R | 0.960 |
| X:154478394:A:G | F69S | 0.956 |
| X:154478377:C:G | A75P | 0.955 |
| X:154478315:C:A | K95N | 0.939 |
| X:154478315:C:G | K95N | 0.939 |
| X:154478017:A:T | V120D | 0.938 |
| X:154478394:A:C | F69C | 0.933 |
| X:154478400:A:T | V67E | 0.932 |
| X:154478052:C:A | W108C | 0.929 |
| X:154478052:C:G | W108C | 0.929 |
| X:154478053:C:G | W108S | 0.927 |
| X:154478007:A:C | F123L | 0.925 |
| X:154478007:A:T | F123L | 0.925 |
| X:154478009:A:G | F123L | 0.925 |
| X:154478048:C:G | A110P | 0.920 |
| X:154478370:A:C | I77S | 0.909 |
| X:154478283:A:T | V106D | 0.902 |
| X:154478395:A:T | F69I | 0.899 |
| X:154478411:G:C | F63L | 0.898 |
| X:154478411:G:T | F63L | 0.898 |
| X:154478729:A:G | F63L | 0.898 |
| X:154478008:A:G | F123S | 0.895 |
dbSNP variants (sampled 300 via entrez): RS1000807733 (X:154478970 C>A), RS10011 (X:154477866 C>A,T), RS1001156590 (X:154478865 G>A,T), RS1002426504 (X:154477651 C>G), RS1003253315 (X:154481112 C>T), RS1005605707 (X:154479924 T>C), RS1007283352 (X:154478476 C>T), RS1012023429 (X:154478883 G>A), RS1013026504 (X:154480488 C>T), RS1013075516 (X:154480960 C>A,T), RS1013730007 (X:154477684 A>C,T), RS1013782347 (X:154477971 C>A,T), RS1018277707 (X:154479646 A>G), RS1018290595 (X:154479931 T>C), RS1020897902 (X:154478604 C>G,T)
Disease associations
OMIM: gene MIM:300060 | disease phenotypes: MIM:301006, MIM:300908, MIM:302060
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| Galloway-Mowat syndrome 2, X-linked | Strong | X-linked |
| Galloway-Mowat syndrome | Supportive | Autosomal recessive |
Mondo (4): Galloway-Mowat syndrome 2, X-linked (MONDO:0033006), anemia, nonspherocytic hemolytic, due to G6PD deficiency (MONDO:0010480), Barth syndrome (MONDO:0010543), Galloway-Mowat syndrome (MONDO:0009627)
Orphanet (2): Barth syndrome (Orphanet:111), Class I glucose-6-phosphate dehydrogenase deficiency (Orphanet:466026)
HPO phenotypes
49 total (30 of 49 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000093 | Proteinuria |
| HP:0000097 | Focal segmental glomerulosclerosis |
| HP:0000100 | Nephrotic syndrome |
| HP:0000112 | Nephropathy |
| HP:0000164 | Abnormality of the dentition |
| HP:0000218 | High palate |
| HP:0000252 | Microcephaly |
| HP:0000316 | Hypertelorism |
| HP:0000341 | Narrow forehead |
| HP:0000347 | Micrognathia |
| HP:0000400 | Macrotia |
| HP:0000565 | Esotropia |
| HP:0000601 | Hypotelorism |
| HP:0000639 | Nystagmus |
| HP:0000750 | Delayed speech and language development |
| HP:0001166 | Arachnodactyly |
| HP:0001181 | Adducted thumb |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001257 | Spasticity |
| HP:0001263 | Global developmental delay |
| HP:0001272 | Cerebellar atrophy |
| HP:0001276 | Hypertonia |
| HP:0001302 | Pachygyria |
| HP:0001310 | Dysmetria |
| HP:0001419 | X-linked recessive inheritance |
| HP:0001511 | Intrauterine growth retardation |
| HP:0001622 | Premature birth |
| HP:0002036 | Hiatus hernia |
GWAS associations
0 associations (top):
MeSH disease descriptors (3)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D056889 | Barth Syndrome | C14.240.400.172; C14.280.400.172; C16.131.077.121; C16.131.240.400.172; C16.320.322.068; C16.320.565.398.224; C18.452.584.563.224; C18.452.648.398.224 |
| C567533 | Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency (supp.) | |
| C537548 | Galloway Mowat syndrome (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066468 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 2 |
| Acetaminophen | increases expression, affects response to substance | 2 |
| Phenylmercuric Acetate | decreases expression, affects cotreatment | 2 |
| Valproic Acid | affects expression, decreases expression | 2 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| bisphenol A | decreases expression | 1 |
| methylselenic acid | decreases expression | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| mono-(2-ethylhexyl)phthalate | decreases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| azoxystrobin | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | decreases expression, affects cotreatment | 1 |
| pyrachlostrobin | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| jinfukang | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cisplatin | increases expression | 1 |
| Coumestrol | affects cotreatment, increases expression | 1 |
| Methotrexate | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Testosterone | increases expression | 1 |
| Dronabinol | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651676 | Binding | Binding affinity to human LAGE3 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Clinical trials (associated diseases)
9 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT07531251 | PHASE4 | NOT_YET_RECRUITING | Clinical Trial in Patients With Barth Syndrome- 4TAZPower |
| NCT03098797 | PHASE2/PHASE3 | COMPLETED | A Trial to Evaluate Safety, Tolerability and Efficacy of Elamipretide in Subjects With Barth Syndrome |
| NCT01194141 | Not specified | COMPLETED | Exercise Training in Barth Syndrome |
| NCT01461304 | Not specified | NO_LONGER_AVAILABLE | Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism |
| NCT01625663 | Not specified | COMPLETED | Heart and Muscle Metabolism in Barth Syndrome |
| NCT01629459 | Not specified | COMPLETED | Resistance Exercise in Barth Syndrome |
| NCT03655223 | Not specified | ENROLLING_BY_INVITATION | Early Check: Expanded Screening in Newborns |
| NCT04689360 | Not specified | AVAILABLE | An Intermediate Size Expanded Access Protocol of Elamipretide |
| NCT05554835 | Not specified | RECRUITING | Global Registry and Natural History Study for Mitochondrial Disorders |
Related Atlas pages
- Associated diseases: Galloway-Mowat syndrome 2, X-linked, Galloway-Mowat syndrome
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): anemia, nonspherocytic hemolytic, due to G6PD deficiency, Barth syndrome, Galloway-Mowat syndrome, Galloway-Mowat syndrome 2, X-linked