TAMM41
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Also known as MGC16471DKFZp434E0519
Summary
TAMM41 (TAM41 mitochondrial translocator assembly and maintenance homolog, HGNC:25187) is a protein-coding gene on chromosome 3p25.2, encoding Phosphatidate cytidylyltransferase, mitochondrial (Q96BW9). Catalyzes the conversion of phosphatidic acid (PA) to CDP-diacylglycerol (CDP-DAG), an essential intermediate in the synthesis of phosphatidylglycerol, cardiolipin and phosphatidylinositol. It is a selective cancer dependency (DepMap: 83.4% of cell lines).
Predicted to enable phosphatidate cytidylyltransferase activity. Predicted to be involved in CDP-diacylglycerol biosynthetic process and cardiolipin biosynthetic process. Is active in mitochondrion. Implicated in combined oxidative phosphorylation deficiency 56.
Source: NCBI Gene 132001 — RefSeq curated summary.
At a glance
- Gene–disease (curated): combined oxidative phosphorylation deficiency 56 (Strong, GenCC) — +1 more curated relationship
- GWAS associations: 3
- Clinical variants (ClinVar): 75 total — 4 pathogenic, 1 likely-pathogenic
- Phenotypes (HPO): 22
- Cancer dependency (DepMap): dependent in 83.4% of screened cell lines
- MANE Select transcript:
NM_001284401
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25187 |
| Approved symbol | TAMM41 |
| Name | TAM41 mitochondrial translocator assembly and maintenance homolog |
| Location | 3p25.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC16471, DKFZp434E0519 |
| Ensembl gene | ENSG00000144559 |
| Ensembl biotype | protein_coding |
| OMIM | 614948 |
| Entrez | 132001 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 10 protein_coding, 4 nonsense_mediated_decay, 4 retained_intron
ENST00000273037, ENST00000411947, ENST00000414736, ENST00000417723, ENST00000444133, ENST00000455809, ENST00000457498, ENST00000460246, ENST00000486090, ENST00000494388, ENST00000498127, ENST00000630288, ENST00000879036, ENST00000879037, ENST00000937105, ENST00000937106, ENST00000937107, ENST00000937108
RefSeq mRNA: 6 — MANE Select: NM_001284401
NM_001284401, NM_001321294, NM_001321295, NM_001366031, NM_001394474, NM_138807
CCDS: CCDS2607, CCDS68345, CCDS93211
Canonical transcript exons
ENST00000455809 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001782172 | 11846502 | 11846885 |
| ENSE00003507905 | 11839222 | 11839314 |
| ENSE00003532497 | 11817192 | 11817337 |
| ENSE00003563466 | 11844029 | 11844211 |
| ENSE00003564046 | 11790442 | 11790581 |
| ENSE00003613210 | 11809517 | 11809682 |
| ENSE00003667651 | 11829714 | 11829864 |
| ENSE00003671197 | 11807833 | 11807895 |
Expression profiles
Bgee: expression breadth ubiquitous, 136 present calls, max score 91.79.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.5609 / max 352.0826, expressed in 1802 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 41111 | 25.5609 | 1802 |
Top tissues by expression
138 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 91.79 | gold quality |
| granulocyte | CL:0000094 | 87.00 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 86.77 | gold quality |
| ovary | UBERON:0000992 | 86.18 | gold quality |
| left ovary | UBERON:0002119 | 86.14 | gold quality |
| right ovary | UBERON:0002118 | 85.70 | gold quality |
| skin of abdomen | UBERON:0001416 | 85.66 | gold quality |
| zone of skin | UBERON:0000014 | 85.56 | gold quality |
| skin of leg | UBERON:0001511 | 85.50 | gold quality |
| tonsil | UBERON:0002372 | 85.42 | gold quality |
| uterine cervix | UBERON:0000002 | 85.03 | gold quality |
| tibial nerve | UBERON:0001323 | 85.03 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 84.52 | gold quality |
| endocervix | UBERON:0000458 | 84.35 | gold quality |
| vagina | UBERON:0000996 | 84.12 | gold quality |
| lymph node | UBERON:0000029 | 84.07 | gold quality |
| body of pancreas | UBERON:0001150 | 84.03 | gold quality |
| esophagus mucosa | UBERON:0002469 | 84.03 | gold quality |
| endometrium | UBERON:0001295 | 83.93 | gold quality |
| body of uterus | UBERON:0009853 | 83.78 | gold quality |
| colonic epithelium | UBERON:0000397 | 83.73 | gold quality |
| ectocervix | UBERON:0012249 | 83.71 | gold quality |
| calcaneal tendon | UBERON:0003701 | 83.49 | gold quality |
| sural nerve | UBERON:0015488 | 83.49 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 83.46 | gold quality |
| spleen | UBERON:0002106 | 83.44 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 83.34 | gold quality |
| myometrium | UBERON:0001296 | 83.31 | gold quality |
| urinary bladder | UBERON:0001255 | 83.29 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 83.28 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.50 |
Regulation
Is transcription factor: no
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 83.4% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 1)
- Association of mitochondrial variants and haplogroups identified by whole exome sequencing with Alzheimer’s disease. (PMID:34152079)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tamm41 | ENSDARG00000100157 |
| mus_musculus | Tamm41 | ENSMUSG00000030316 |
| rattus_norvegicus | Tamm41 | ENSRNOG00000007874 |
| drosophila_melanogaster | CG33331 | FBGN0067628 |
| caenorhabditis_elegans | Y71F9B.2 | WBGENE00022126 |
Protein
Protein identifiers
Phosphatidate cytidylyltransferase, mitochondrial — Q96BW9 (reviewed: Q96BW9)
Alternative names: CDP-diacylglycerol synthase, Mitochondrial translocator assembly and maintenance protein 41 homolog
All UniProt accessions (4): Q96BW9, B4E101, G3V0F3, H7C1A2
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the conversion of phosphatidic acid (PA) to CDP-diacylglycerol (CDP-DAG), an essential intermediate in the synthesis of phosphatidylglycerol, cardiolipin and phosphatidylinositol.
Subcellular location. Mitochondrion inner membrane.
Disease relevance. Combined oxidative phosphorylation deficiency 56 (COXPD56) [MIM:620139] An autosomal recessive mitochondrial disease characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis. The disease may be caused by variants affecting the gene represented in this entry.
Pathway. Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol 3-phosphate: step 3/3.
Similarity. Belongs to the TAM41 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96BW9-1 | 1 | yes |
| Q96BW9-2 | 2 | |
| Q96BW9-3 | 3 |
RefSeq proteins (6): NP_001271330, NP_001308223, NP_001308224, NP_001352960, NP_001381403, NP_620162 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR015222 | Tam41 | Family |
Pfam: PF09139
Catalyzed reactions (Rhea), 1 shown:
- a 1,2-diacyl-sn-glycero-3-phosphate + CTP + H(+) = a CDP-1,2-diacyl-sn-glycerol + diphosphate (RHEA:16229)
UniProt features (10 total): sequence variant 5, splice variant 4, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96BW9-F1 | 73.42 | 0.50 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 132 (showing top):
GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLGLYCEROL_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, GOCC_MITOCHONDRIAL_ENVELOPE, GOBP_GLYCEROLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_LIPID_BIOSYNTHETIC_PROCESS, GOBP_CARDIOLIPIN_METABOLIC_PROCESS, POU3F2_02, IVANOVA_HEMATOPOIESIS_INTERMEDIATE_PROGENITOR
GO Biological Process (4): CDP-diacylglycerol biosynthetic process (GO:0016024), cardiolipin biosynthetic process (GO:0032049), lipid metabolic process (GO:0006629), phospholipid biosynthetic process (GO:0008654)
GO Molecular Function (4): phosphatidate cytidylyltransferase activity (GO:0004605), protein binding (GO:0005515), transferase activity (GO:0016740), nucleotidyltransferase activity (GO:0016779)
GO Cellular Component (4): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial matrix (GO:0005759), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| CDP-diacylglycerol metabolic process | 1 |
| glycerophospholipid biosynthetic process | 1 |
| phosphatidylglycerol biosynthetic process | 1 |
| cardiolipin metabolic process | 1 |
| primary metabolic process | 1 |
| phospholipid metabolic process | 1 |
| lipid biosynthetic process | 1 |
| organophosphate biosynthetic process | 1 |
| cytidylyltransferase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| transferase activity, transferring phosphorus-containing groups | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| mitochondrion | 1 |
| intracellular organelle lumen | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
726 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TAMM41 | CDS1 | Q92903 | 985 |
| TAMM41 | CDS2 | O95674 | 983 |
| TAMM41 | CDIPT | O14735 | 962 |
| TAMM41 | PTPMT1 | Q8WUK0 | 772 |
| TAMM41 | TAFAZZIN | Q16635 | 722 |
| TAMM41 | PGS1 | Q32NB8 | 710 |
| TAMM41 | PRELID1 | Q9Y255 | 691 |
| TAMM41 | TRIAP1 | O43715 | 689 |
| TAMM41 | CRLS1 | Q9UJA2 | 628 |
| TAMM41 | MBOAT2 | Q6ZWT7 | 600 |
| TAMM41 | PITPNM1 | O00562 | 562 |
| TAMM41 | PISD | Q9UG56 | 542 |
| TAMM41 | AGK | Q53H12 | 539 |
| TAMM41 | LCLAT1 | Q6UWP7 | 527 |
| TAMM41 | CEPT1 | Q9Y6K0 | 506 |
IntAct
64 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| TNFSF14 | TMEM11 | psi-mi:“MI:0914”(association) | 0.670 |
| TNFSF8 | TOR1B | psi-mi:“MI:0914”(association) | 0.640 |
| FAM174A | BLTP3B | psi-mi:“MI:0914”(association) | 0.530 |
| LPAR4 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| SLC15A1 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC2A12 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| LAMP3 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| APBA3 | DUSP11 | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM9 | ESYT2 | psi-mi:“MI:0914”(association) | 0.530 |
| CD70 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| TAMM41 | BCKDHA | psi-mi:“MI:0915”(physical association) | 0.400 |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| CD70 | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| LAMP2 | HSPA12A | psi-mi:“MI:0914”(association) | 0.350 |
| APBB1 | HERC2 | psi-mi:“MI:0914”(association) | 0.350 |
| TNFSF8 | NME4 | psi-mi:“MI:0914”(association) | 0.350 |
| NMES1 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.350 |
| MIX23 | TAMM41 | psi-mi:“MI:0914”(association) | 0.350 |
| COQ9 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.350 |
| NDUFA4 | NUDT19 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (79): TAMM41 (Affinity Capture-MS), TAMM41 (Affinity Capture-MS), TAMM41 (Affinity Capture-MS), TAMM41 (Affinity Capture-MS), TAMM41 (Affinity Capture-MS), GPI (Affinity Capture-MS), PMPCB (Affinity Capture-MS), ECH1 (Affinity Capture-MS), TAMM41 (Affinity Capture-MS), TAMM41 (Affinity Capture-MS), TAMM41 (Affinity Capture-MS), TAMM41 (Affinity Capture-MS), TAMM41 (Affinity Capture-MS), TAMM41 (Affinity Capture-MS), TAMM41 (Affinity Capture-MS)
ESM2 similar proteins: A0A0R4IXF6, A1XQS2, B0UYT5, B4PQ50, F1M7L9, F4I4P8, F6QZ15, M0R2J8, O09111, O14548, O60397, O82067, P0CU26, P34660, Q0MQJ3, Q0MQJ4, Q0MQJ5, Q1LUC3, Q2KI08, Q3SYY7, Q3T061, Q4QQV3, Q4R6H1, Q56VL3, Q5REP2, Q5XTS1, Q61387, Q6DQX6, Q6GL38, Q7SXI1, Q8BGY7, Q8HXG5, Q8WWI1, Q92830, Q92831, Q95JR3, Q96BW9, Q96P26, Q96Q45, Q99KD6
Diamond homologs: D3ZKT0, O74339, P53230, Q32L81, Q3B7H2, Q3TUH1, Q550P4, Q61X59, Q6DJM2, Q8INF2, Q96BW9, Q9N4G7
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
75 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 4 |
| Likely pathogenic | 1 |
| Uncertain significance | 49 |
| Likely benign | 7 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (5)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1299473 | NM_001284401.2(TAMM41):c.329A>G (p.Tyr110Cys) | Pathogenic |
| 1299474 | NM_001284401.2(TAMM41):c.806dup (p.Asn269fs) | Pathogenic |
| 1800463 | NM_001284401.2(TAMM41):c.410C>T (p.Pro137Leu) | Pathogenic |
| 1800464 | NM_001284401.2(TAMM41):c.709-2A>G | Pathogenic |
| 3775079 | NM_001284401.2(TAMM41):c.709-3C>A | Likely pathogenic |
SpliceAI
1464 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:11809513:GTACC:G | donor_loss | 1.0000 |
| 3:11809514:TACCT:T | donor_loss | 1.0000 |
| 3:11809515:A:AC | donor_gain | 1.0000 |
| 3:11809515:A:AG | donor_loss | 1.0000 |
| 3:11809516:C:CC | donor_gain | 1.0000 |
| 3:11809679:CTAT:C | acceptor_gain | 1.0000 |
| 3:11809680:TAT:T | acceptor_gain | 1.0000 |
| 3:11809681:AT:A | acceptor_gain | 1.0000 |
| 3:11809683:C:CC | acceptor_gain | 1.0000 |
| 3:11809683:CT:C | acceptor_loss | 1.0000 |
| 3:11829710:TAA:T | donor_loss | 1.0000 |
| 3:11829711:AAC:A | donor_loss | 1.0000 |
| 3:11829712:A:T | donor_loss | 1.0000 |
| 3:11829864:CCT:C | acceptor_loss | 1.0000 |
| 3:11829865:C:CC | acceptor_gain | 1.0000 |
| 3:11829865:CTG:C | acceptor_loss | 1.0000 |
| 3:11829866:T:C | acceptor_loss | 1.0000 |
| 3:11832996:T:TA | donor_gain | 1.0000 |
| 3:11833001:A:AC | donor_gain | 1.0000 |
| 3:11833002:C:CC | donor_gain | 1.0000 |
| 3:11833002:CT:C | donor_gain | 1.0000 |
| 3:11833005:A:AC | donor_gain | 1.0000 |
| 3:11833006:A:C | donor_gain | 1.0000 |
| 3:11839214:ACACT:A | donor_loss | 1.0000 |
| 3:11839215:CACT:C | donor_loss | 1.0000 |
| 3:11839216:ACTCA:A | donor_loss | 1.0000 |
| 3:11839217:CTCAC:C | donor_loss | 1.0000 |
| 3:11839218:TCA:T | donor_loss | 1.0000 |
| 3:11839219:CA:C | donor_loss | 1.0000 |
| 3:11839220:A:AC | donor_gain | 1.0000 |
AlphaMissense
2209 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:11839260:A:G | W125R | 0.997 |
| 3:11839260:A:T | W125R | 0.997 |
| 3:11809552:G:T | A280D | 0.995 |
| 3:11809648:A:G | L248P | 0.993 |
| 3:11839268:A:G | L122P | 0.993 |
| 3:11839258:C:A | W125C | 0.990 |
| 3:11839258:C:G | W125C | 0.990 |
| 3:11809553:C:G | A280P | 0.986 |
| 3:11829746:A:G | L177P | 0.986 |
| 3:11829808:A:C | N156K | 0.986 |
| 3:11829808:A:T | N156K | 0.986 |
| 3:11839232:A:G | L134P | 0.986 |
| 3:11839241:G:T | A131D | 0.986 |
| 3:11829798:C:G | A160P | 0.984 |
| 3:11829797:G:T | A160D | 0.981 |
| 3:11844166:A:G | W61R | 0.981 |
| 3:11844166:A:T | W61R | 0.981 |
| 3:11839259:C:G | W125S | 0.980 |
| 3:11839307:T:A | K109I | 0.980 |
| 3:11817265:A:G | F212S | 0.978 |
| 3:11844152:G:C | N65K | 0.978 |
| 3:11844152:G:T | N65K | 0.978 |
| 3:11829806:A:G | L157P | 0.973 |
| 3:11829785:G:T | A164D | 0.972 |
| 3:11829786:C:G | A164P | 0.972 |
| 3:11839259:C:A | W125L | 0.972 |
| 3:11839226:T:A | K136I | 0.971 |
| 3:11839235:C:G | R133P | 0.971 |
| 3:11809636:G:C | P252R | 0.970 |
| 3:11809636:G:T | P252H | 0.970 |
dbSNP variants (sampled 300 via entrez): RS1000005940 (3:11826493 C>T), RS1000040520 (3:11806345 A>G), RS1000049683 (3:11791942 G>A), RS1000057109 (3:11757458 C>T), RS1000058378 (3:11766355 C>T), RS1000104647 (3:11800899 A>G), RS1000161125 (3:11765115 C>A), RS1000166682 (3:11801556 G>A), RS1000177037 (3:11822453 A>C), RS1000192843 (3:11741997 A>G), RS1000206580 (3:11822764 A>C), RS1000265063 (3:11759838 G>A), RS1000279256 (3:11735501 G>T), RS1000280727 (3:11722417 C>T), RS1000296825 (3:11769376 G>T)
Disease associations
OMIM: gene MIM:614948 | disease phenotypes: MIM:609060, MIM:620139
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| combined oxidative phosphorylation deficiency 56 | Strong | Autosomal recessive |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| mitochondrial disease | Moderate | AR |
Mondo (3): combined oxidative phosphorylation deficiency (MONDO:0000732), combined oxidative phosphorylation deficiency 56 (MONDO:0859323), respiratory failure (MONDO:0021113)
Orphanet (0):
HPO phenotypes
22 total (22 of 22 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000508 | Ptosis |
| HP:0000590 | Progressive external ophthalmoplegia |
| HP:0001252 | Hypotonia |
| HP:0001254 | Lethargy |
| HP:0001263 | Global developmental delay |
| HP:0001284 | Areflexia |
| HP:0001508 | Failure to thrive |
| HP:0002015 | Dysphagia |
| HP:0002194 | Delayed gross motor development |
| HP:0002878 | Respiratory failure |
| HP:0002919 | Ketonuria |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003557 | Increased variability in muscle fiber diameter |
| HP:0003577 | Congenital onset |
| HP:0003648 | Lacticaciduria |
| HP:0003701 | Proximal muscle weakness |
| HP:0003803 | Type 1 muscle fiber predominance |
| HP:0008347 | Decreased activity of mitochondrial complex IV |
| HP:0011923 | Decreased activity of mitochondrial complex I |
| HP:0011924 | Decreased activity of mitochondrial complex III |
| HP:0012120 | Methylmalonic aciduria |
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000977_1 | Alcohol dependence | 4.000000e-07 |
| GCST009281_1 | Microalbuminuria in type 1 diabetes | 8.000000e-10 |
| GCST90006920_1 | Herpes simplex virus 2 mgG-1 antibody levels | 2.000000e-09 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009350 | Anti-herpes simplex virus 2 IgG measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D012131 | Respiratory Insufficiency | C08.618.846 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
22 total (human), top 22 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases expression | 2 |
| Particulate Matter | affects cotreatment, decreases expression, increases abundance, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| isobutyl alcohol | affects cotreatment, decreases expression, increases abundance | 1 |
| bicalutamide | increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| NSC 689534 | decreases expression, affects binding | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Copper | affects binding, decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Gasoline | decreases expression, increases abundance, affects cotreatment | 1 |
| Ivermectin | decreases expression | 1 |
| Polycyclic Aromatic Hydrocarbons | affects cotreatment, decreases expression, increases abundance | 1 |
| Rotenone | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Aflatoxin B1 | increases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00208078 | PHASE4 | TERMINATED | Effect of Non-Invasive Ventilation in Cystic Fibrosis Patient With Chronic Respiratory Failure. |
| NCT00291460 | PHASE4 | UNKNOWN | Inspiratory Muscle Training in Hypercapnic COPD |
| NCT00355732 | PHASE4 | COMPLETED | Chronic Obstructive Pulmonary Disease and Weaning From Mechanical Ventilation in Difficult to Wean Patients |
| NCT00560287 | PHASE4 | UNKNOWN | Non-Invasive Ventilation in Amyotrophic Lateral Sclerosis |
| NCT00600639 | PHASE4 | TERMINATED | Non-Invasive Mechanical Ventilation in Elderly Patients |
| NCT00698958 | PHASE4 | COMPLETED | Ambulatory Adaptation to Non-Invasive Mechanical Ventilation |
| NCT00708149 | PHASE4 | COMPLETED | Comparison of the Efficacy for Stress Ulcer Prophylaxis Between the Patients Received Lansoprazole OD and Control Group Weaning From Mechanical Ventilator in Respiratory Care Center: a Randomized Control Trial |
| NCT00732537 | PHASE4 | COMPLETED | Inhaled Nitric Oxide by Oxygen Hood in Neonates |
| NCT00925860 | PHASE4 | COMPLETED | Non-Positive Pressure Ventilation in Hypoxemic Patients |
| NCT01204281 | PHASE4 | COMPLETED | Proportional Assist Ventilation (PAV) in Early Stage of Critically Ill Patients |
| NCT01280019 | PHASE4 | UNKNOWN | FRC Guided Therapy in Acute Respiratory Failure |
| NCT01472302 | PHASE4 | COMPLETED | Closed Loop Ventilation Strategy in Intensive Care Unit (ICU) Patients |
| NCT01572337 | PHASE4 | COMPLETED | Early Non-invasive Ventilation Outside the Intensive Care Unit |
| NCT01941524 | PHASE4 | COMPLETED | Brain Oxygenation and Function of Preterm Newborns During Administration of Two Different Surfactant Preparations |
| NCT02203019 | PHASE4 | COMPLETED | Study of Sedative Medications in Patients With Severe Infection and Respiratory Failure |
| NCT02491346 | PHASE4 | UNKNOWN | A Trial Comparing SGC and Conventional Empiric Treatment for Glucose Control in Critically Ill Patients With Mechanical Ventilation in ICU |
| NCT02497729 | PHASE4 | COMPLETED | Checklists and Upright Positioning in Endotracheal Intubation of Critically Ill Patients (Check-UP) Trial |
| NCT02526862 | PHASE4 | COMPLETED | Prevention of Pressure Ulcers in Patients Under Non-Invasive Mechanical Ventilation |
| NCT02958150 | PHASE4 | UNKNOWN | Dexmedetomidine Versus Standard Clinical Practice During Non Invasive Mechanical Ventilation |
| NCT03026777 | PHASE4 | COMPLETED | Preventing Cardiovascular collaPse With Administration of Fluid Resuscitation Before Endotracheal Intubation |
| NCT03337373 | PHASE4 | COMPLETED | The Study of Pharmacokinetics and Pharmacodynamics of Cisatracurium |
| NCT03625687 | PHASE4 | TERMINATED | Pan-genotypic Direct Acting Antiviral Therapy in Donor HCV-positive to Recipient HCV-negative Lung Transplant |
| NCT03787732 | PHASE4 | COMPLETED | Preventing Cardiovascular Collapse With Administration of Fluid Resuscitation During Induction and Intubation |
| NCT03962725 | PHASE4 | TERMINATED | Avoiding Neuromuscular Blockers to Reduce Complications |
| NCT04092621 | PHASE4 | UNKNOWN | Rapid Atrial Fibrillation Treatment Strategy |
| NCT04350086 | PHASE4 | WITHDRAWN | Use of Dexmedetomidine in Light to Moderate Sedation in the Patient in the Palliative Situation of a Sars-cov-2 / COVID-19 Infection |
| NCT04496362 | PHASE4 | ACTIVE_NOT_RECRUITING | Veno-venous Extracorporeal Membrane Oxygenation (VV-ECMO) Heparin Study |
| NCT05277896 | PHASE4 | COMPLETED | Randomized Trial of Sedative Choice for Intubation |
| NCT05322447 | PHASE4 | COMPLETED | High-dose L-Carnitine and Diaphragmatic Function Assessed by Ultrasonography in Patients With Respiratory Failure. |
| NCT05843123 | PHASE4 | COMPLETED | Comparison of Gas Exchange Between Two Invasive Mechanical Ventilation Modes in Children |
| NCT06401083 | PHASE4 | RECRUITING | The Effect of an Additional Pre-extubational Loading Dose of Caffeine-citrate |
| NCT06881927 | PHASE4 | NOT_YET_RECRUITING | Eduction in ImmunoSuppressive Regimen Among Kidney Transplant Recipients Patients Admitted to the Intensive Care Unit for Septic Shock and/or Acute Respiratory Failure |
| NCT00000562 | PHASE3 | COMPLETED | Extracorporeal Support for Respiratory Insufficiency (ECMO) |
| NCT00148642 | PHASE3 | COMPLETED | Silver-Coated Endotracheal Tube to Reduce Ventilator Associated Pneumonia (VAP) |
| NCT00221520 | PHASE3 | UNKNOWN | Sedation in the Intensive Care Unit |
| NCT00230984 | PHASE3 | COMPLETED | IRAD2 : Patients With Respiratory Failure at Home |
| NCT00248443 | PHASE3 | COMPLETED | Réa-MiniMax: Severe Acute Respiratory Failure in Hematology and Cancer Patients Without Bronchoalveolar Lavage |
| NCT00347321 | PHASE3 | COMPLETED | Early Percutaneous Tracheostomy for Cardiac Surgery (ETOC) |
| NCT00549809 | PHASE3 | COMPLETED | Comparison Between IMV and SIMV/PS for Ventilatory Support of Children: a Randomized Clinical Trial |
| NCT01076816 | PHASE3 | TERMINATED | Dexmedetomidine Pharmacokinetics-pharmacodynamics in Mechanically Ventilated Children With Single-organ Respiratory Failure |
Related Atlas pages
- Associated diseases: combined oxidative phosphorylation deficiency 56, mitochondrial disease
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): alcohol dependence, combined oxidative phosphorylation deficiency, combined oxidative phosphorylation deficiency 56, respiratory failure