C8G
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Summary
C8G (complement C8 gamma chain, HGNC:1354) is a protein-coding gene on chromosome 9q34.3, encoding Complement component C8 gamma chain (P07360). Component of the membrane attack complex (MAC), a multiprotein complex activated by the complement cascade, which inserts into a target cell membrane and forms a pore, leading to target cell membrane rupture and cell lysis.
The protein encoded by this gene belongs to the lipocalin family. It is one of the three subunits that constitutes complement component 8 (C8), which is composed of a disulfide-linked C8 alpha-gamma heterodimer and a non-covalently associated C8 beta chain. C8 participates in the formation of the membrane attack complex (MAC) on bacterial cell membranes. While subunits alpha and beta play a role in complement-mediated bacterial killing, the gamma subunit is not required for the bactericidal activity.
Source: NCBI Gene 733 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 71 total
- MANE Select transcript:
NM_000606
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1354 |
| Approved symbol | C8G |
| Name | complement C8 gamma chain |
| Location | 9q34.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000176919 |
| Ensembl biotype | protein_coding |
| OMIM | 120930 |
| Entrez | 733 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 14 protein_coding, 2 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000371634, ENST00000465773, ENST00000484376, ENST00000647910, ENST00000649480, ENST00000649755, ENST00000870160, ENST00000870161, ENST00000870162, ENST00000870163, ENST00000870164, ENST00000870165, ENST00000870166, ENST00000870167, ENST00000870168, ENST00000870169, ENST00000870170, ENST00000870171, ENST00000870172
RefSeq mRNA: 1 — MANE Select: NM_000606
NM_000606
CCDS: CCDS7017
Canonical transcript exons
ENST00000371634 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000734162 | 136945243 | 136945458 |
| ENSE00000734163 | 136945634 | 136945770 |
| ENSE00000734168 | 136946085 | 136946192 |
| ENSE00000734170 | 136946465 | 136946566 |
| ENSE00001194952 | 136945929 | 136945999 |
| ENSE00003686215 | 136946651 | 136946689 |
| ENSE00003831539 | 136946768 | 136946975 |
Expression profiles
Bgee: expression breadth ubiquitous, 164 present calls, max score 99.51.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.2664 / max 845.4551, expressed in 59 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 99590 | 1.3284 | 48 |
| 99592 | 0.5861 | 34 |
| 99591 | 0.3292 | 31 |
| 99589 | 0.0226 | 9 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 99.51 | gold quality |
| liver | UBERON:0002107 | 96.45 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 91.26 | gold quality |
| duodenum | UBERON:0002114 | 90.42 | gold quality |
| jejunal mucosa | UBERON:0000399 | 86.48 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 86.03 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 85.11 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.11 | gold quality |
| gastrocnemius | UBERON:0001388 | 83.81 | gold quality |
| granulocyte | CL:0000094 | 82.31 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 81.64 | gold quality |
| muscle of leg | UBERON:0001383 | 81.00 | gold quality |
| gall bladder | UBERON:0002110 | 80.91 | gold quality |
| left testis | UBERON:0004533 | 79.04 | gold quality |
| right testis | UBERON:0004534 | 78.93 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 78.81 | gold quality |
| small intestine | UBERON:0002108 | 78.56 | gold quality |
| spleen | UBERON:0002106 | 77.01 | gold quality |
| apex of heart | UBERON:0002098 | 75.74 | gold quality |
| testis | UBERON:0000473 | 75.19 | gold quality |
| transverse colon | UBERON:0001157 | 73.53 | gold quality |
| heart left ventricle | UBERON:0002084 | 72.84 | gold quality |
| muscle organ | UBERON:0001630 | 72.68 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 72.43 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 72.34 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 72.10 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 71.93 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 71.93 | gold quality |
| cardiac ventricle | UBERON:0002082 | 71.77 | gold quality |
| adenohypophysis | UBERON:0002196 | 71.49 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-9 | yes | 57.40 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
4 targeting C8G, 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-4649-3P | 99.56 | 66.90 | 1783 |
| HSA-MIR-6801-3P | 98.04 | 64.64 | 805 |
| HSA-MIR-6810-3P | 97.96 | 64.57 | 1023 |
| HSA-MIR-4329 | 97.68 | 66.26 | 1003 |
Literature-anchored findings (GeneRIF, showing 9)
- Binding of C8 gamma subunit to C8 beta is dependent on the thrombospondin type 1 module + low-density lipoprotein receptor class A module + membrane attack complex/perforin domain of C8 beta. (PMID:12220191)
- C8 alpha and C8 beta have correspondingly similar roles in MAC-mediated lysis of erythrocytes and bacterial killing. C8 gamma is not required for complement-mediated killing of Gram-negative bacteria. (PMID:12413696)
- results indicate that the principal binding site for C9 lies within the MACPF domain of C8alpha; they also suggest this site and the binding sites for C8beta and C8gamma are distinct (PMID:16618117)
- One can predict that the indel segment of C8alpha assumes a conformation that allows for multiple points of contact with C8gamma. (PMID:16935577)
- structure of a C8gamma.laurate complex revealed Y83 and Y131 can move to allow penetration of hydrocarbon chain of laurate into the lower cavity. A Y83W mutation blocked access but had no effect on the ability of C8gamma to enhance C8 cytolytic activity (PMID:17452033)
- Results describe the crystal structure of the human C8 alpha MACPF domain disulfide-linked to C8 gamma (alphaMACPF-gamma) at 2.15 A resolution. (PMID:18440555)
- C8gamma binds an indel peptide of C8alpha sequence and forms a non-covalent complex. (PMID:19048311)
- These data provide a detailed specification of co-occurring C8 proteoforms, including experimental evidence on N-glycosylation, C-mannosylation, and O-glycosylation. (PMID:29532326)
- Elevated complement component 8 gamma levels in astrocyte-derived exosomes are associated with cognitive impairment in obstructive sleep apnea patients without dementia. (PMID:36509166)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | c8g | ENSDARG00000032098 |
| mus_musculus | C8g | ENSMUSG00000015083 |
| rattus_norvegicus | C8g | ENSRNOG00000028701 |
Protein
Protein identifiers
Complement component C8 gamma chain — P07360 (reviewed: P07360)
All UniProt accessions (3): A0A3B3ITK5, A0A3B3ITY0, P07360
UniProt curated annotations — full annotation on UniProt →
Function. Component of the membrane attack complex (MAC), a multiprotein complex activated by the complement cascade, which inserts into a target cell membrane and forms a pore, leading to target cell membrane rupture and cell lysis. The MAC is initiated by proteolytic cleavage of C5 into complement C5b in response to the classical, alternative, lectin and GZMK complement pathways. The complement pathways consist in a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system. C8G, together with C8A and C8B, inserts into the target membrane, but does not form pores by itself. During MAC assembly, associates with C5b, C6 and C7 to form the C5b8 intermediate complex that inserts into the target membrane and traverses the bilayer increasing membrane rigidity.
Subunit / interactions. Heterotrimer of 3 chains: alpha (C8A), beta (C8B) and gamma (C8G); the alpha and gamma chains are disulfide bonded. Component of the membrane attack complex (MAC), composed of complement C5b, C6, C7, C8A, C8B, C8G and multiple copies of the pore-forming subunit C9.
Subcellular location. Secreted. Target cell membrane.
Activity regulation. Membrane attack complex (MAC) assembly is inhibited by CD59, thereby protecting self-cells from damage during complement activation. MAC assembly is also inhibited by clusterin (CLU) chaperones that inhibit polymerization of C9.
Similarity. Belongs to the calycin superfamily. Lipocalin family.
RefSeq proteins (1): NP_000597* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000566 | Lipocln_cytosolic_FA-bd_dom | Domain |
| IPR002968 | A1-microglobln | Family |
| IPR012674 | Calycin | Homologous_superfamily |
| IPR022272 | Lipocalin_CS | Conserved_site |
| IPR043245 | C8G | Family |
Pfam: PF00061
UniProt features (26 total): strand 11, helix 7, sequence variant 3, disulfide bond 2, signal peptide 1, chain 1, modified residue 1
Structure
Experimental structures (PDB)
15 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1LF7 | X-RAY DIFFRACTION | 1.2 |
| 2OVA | X-RAY DIFFRACTION | 1.5 |
| 2OVD | X-RAY DIFFRACTION | 1.8 |
| 2QOS | X-RAY DIFFRACTION | 1.81 |
| 1IW2 | X-RAY DIFFRACTION | 1.9 |
| 2OVE | X-RAY DIFFRACTION | 2 |
| 2RD7 | X-RAY DIFFRACTION | 2.15 |
| 3OJY | X-RAY DIFFRACTION | 2.51 |
| 8B0F | ELECTRON MICROSCOPY | 3 |
| 7NYD | ELECTRON MICROSCOPY | 3.27 |
| 8B0G | ELECTRON MICROSCOPY | 3.3 |
| 8B0H | ELECTRON MICROSCOPY | 3.3 |
| 7NYC | ELECTRON MICROSCOPY | 3.54 |
| 6H03 | ELECTRON MICROSCOPY | 5.6 |
| 6H04 | ELECTRON MICROSCOPY | 5.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P07360-F1 | 90.06 | 0.78 |
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): 21
Disulfide bonds (2): 60, 96–188
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-166665 | Terminal pathway of complement |
| R-HSA-977606 | Regulation of Complement cascade |
MSigDB gene sets: 141 (showing top):
REACTOME_INNATE_IMMUNE_SYSTEM, GNF2_GSTM1, GNF2_HPN, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, SHEPARD_BMYB_MORPHOLINO_DN, GOBP_B_CELL_MEDIATED_IMMUNITY, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_REGULATION_OF_IMMUNE_RESPONSE, MODULE_75, GOBP_COMPLEMENT_ACTIVATION, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_LYMPHOCYTE_MEDIATED_IMMUNITY, KEGG_PRION_DISEASES, GOBP_COMPLEMENT_ACTIVATION_ALTERNATIVE_PATHWAY, GNF2_LCAT
GO Biological Process (9): complement activation (GO:0006956), complement activation, alternative pathway (GO:0006957), complement activation, classical pathway (GO:0006958), killing of cells of another organism (GO:0031640), positive regulation of immune response (GO:0050778), transmembrane transport (GO:0055085), complement activation, GZMK pathway (GO:0160257), immune system process (GO:0002376), innate immune response (GO:0045087)
GO Molecular Function (2): retinol binding (GO:0019841), protein binding (GO:0005515)
GO Cellular Component (8): extracellular region (GO:0005576), membrane attack complex (GO:0005579), plasma membrane (GO:0005886), other organism cell membrane (GO:0044218), extracellular exosome (GO:0070062), blood microparticle (GO:0072562), membrane (GO:0016020), transmembrane transporter complex (GO:1902495)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Complement cascade | 2 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| complement activation | 3 |
| cellular anatomical structure | 3 |
| innate immune response | 2 |
| immune response | 2 |
| immune effector process | 1 |
| activation of immune response | 1 |
| humoral immune response | 1 |
| protein activation cascade | 1 |
| humoral immune response mediated by circulating immunoglobulin | 1 |
| cell killing | 1 |
| disruption of cell in another organism | 1 |
| positive regulation of immune system process | 1 |
| positive regulation of response to stimulus | 1 |
| regulation of immune response | 1 |
| transport | 1 |
| cellular process | 1 |
| biological_process | 1 |
| defense response to symbiont | 1 |
| retinoid binding | 1 |
| vitamin binding | 1 |
| alcohol binding | 1 |
| binding | 1 |
| pore complex | 1 |
| plasma membrane protein complex | 1 |
| membrane | 1 |
| cell periphery | 1 |
| other organism part | 1 |
| extracellular vesicle | 1 |
| extracellular region | 1 |
| membrane protein complex | 1 |
| transporter complex | 1 |
Protein interactions and networks
STRING
676 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| C8G | C8A | P07357 | 984 |
| C8G | C8B | P07358 | 980 |
| C8G | LCN1 | P31025 | 794 |
| C8G | PTGDS | P41222 | 719 |
| C8G | PAEP | P09466 | 719 |
| C8G | C1R | P00736 | 698 |
| C8G | ORM1 | P02763 | 618 |
| C8G | C4BPB | P20851 | 583 |
| C8G | C4BPA | P04003 | 573 |
| C8G | C1S | P09871 | 562 |
| C8G | HLA-DRB5 | Q30154 | 551 |
| C8G | C4A | P01028 | 541 |
| C8G | LCN2 | P30150 | 537 |
| C8G | PGM1 | P36871 | 507 |
| C8G | C1QB | P02746 | 485 |
IntAct
15 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| C8G | UBQLN2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| C5 | C9 | psi-mi:“MI:0915”(physical association) | 0.550 |
| S1PR2 | PALM3 | psi-mi:“MI:0914”(association) | 0.530 |
| C8A | psi-mi:“MI:0915”(physical association) | 0.400 | |
| LECT2 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| C8G | SEC24B | psi-mi:“MI:0914”(association) | 0.350 |
| AGPAT1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| RHBDD1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| C5 | psi-mi:“MI:0915”(physical association) | 0.320 | |
| C8G | UBQLN2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (14): C8G (Affinity Capture-MS), SEC24B (Affinity Capture-MS), TMEM2 (Affinity Capture-MS), SH3GL1 (Affinity Capture-MS), EDEM2 (Affinity Capture-MS), UBQLN2 (Two-hybrid), C8G (Reconstituted Complex), EDEM2 (Affinity Capture-MS), TMEM2 (Affinity Capture-MS), C8G (Affinity Capture-MS), SH3GL1 (Affinity Capture-MS), SEC24B (Affinity Capture-MS), C8G (Affinity Capture-MS), C8G (Affinity Capture-MS)
ESM2 similar proteins: B3EY83, B5X0G2, O02853, O09114, O18873, O97921, P02754, P02758, P04119, P07360, P07380, P09466, P11672, P13613, P19647, P21664, P21760, P22057, P30152, P31025, P33685, P33686, P33687, P33688, P41222, P53715, P62502, P62503, P67975, P67976, P80188, Q01584, Q28679, Q29095, Q29487, Q29562, Q5VSP4, Q6JVE6, Q6JVE9, Q6JVL5
Diamond homologs: P07360, Q28679, Q6UWW0, Q8VCG4, O02853, O09114, O97921, P22057, P41222, Q01584, Q29095, Q29487, Q29562, Q6ZST4, Q8WNM0, Q8WNM1, Q9I9P7, Q9TUI1, Q9XS65, Q9XSM0, P36992
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| C8G | “form complex” | “Membrane attack complex” | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
71 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 44 |
| Likely benign | 12 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
977 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:136945454:AGCAG:A | donor_loss | 1.0000 |
| 9:136945455:GCAG:G | donor_gain | 1.0000 |
| 9:136945455:GCAGG:G | donor_loss | 1.0000 |
| 9:136945456:CAG:C | donor_loss | 1.0000 |
| 9:136945457:AG:A | donor_loss | 1.0000 |
| 9:136945458:GGTAG:G | donor_loss | 1.0000 |
| 9:136946077:T:TA | acceptor_gain | 1.0000 |
| 9:136946082:CAG:C | acceptor_loss | 1.0000 |
| 9:136946083:A:AG | acceptor_gain | 1.0000 |
| 9:136946083:AG:A | acceptor_loss | 1.0000 |
| 9:136946084:G:GA | acceptor_gain | 1.0000 |
| 9:136946084:GCCC:G | acceptor_gain | 1.0000 |
| 9:136946190:ACGGT:A | donor_loss | 1.0000 |
| 9:136946191:CGG:C | donor_loss | 1.0000 |
| 9:136946192:GGTA:G | donor_loss | 1.0000 |
| 9:136946193:G:GG | donor_gain | 1.0000 |
| 9:136946193:GT:G | donor_loss | 1.0000 |
| 9:136946194:T:G | donor_loss | 1.0000 |
| 9:136946463:A:AG | acceptor_gain | 1.0000 |
| 9:136946464:G:GG | acceptor_gain | 1.0000 |
| 9:136946464:GCCC:G | acceptor_gain | 1.0000 |
| 9:136946562:GTACG:G | donor_loss | 1.0000 |
| 9:136946563:TACGG:T | donor_loss | 1.0000 |
| 9:136946566:GGT:G | donor_loss | 1.0000 |
| 9:136946567:G:GG | donor_gain | 1.0000 |
| 9:136946567:GTGA:G | donor_loss | 1.0000 |
| 9:136946568:T:A | donor_loss | 1.0000 |
| 9:136945456:C:T | donor_gain | 0.9900 |
| 9:136945460:T:G | donor_loss | 0.9900 |
| 9:136945768:GCT:G | donor_gain | 0.9900 |
AlphaMissense
1284 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:136945648:G:C | W51C | 0.984 |
| 9:136945648:G:T | W51C | 0.984 |
| 9:136945646:T:A | W51R | 0.977 |
| 9:136945646:T:C | W51R | 0.977 |
| 9:136945944:G:C | W97C | 0.974 |
| 9:136945944:G:T | W97C | 0.974 |
| 9:136946653:T:C | F187L | 0.974 |
| 9:136946655:C:A | F187L | 0.974 |
| 9:136946655:C:G | F187L | 0.974 |
| 9:136946503:T:C | F165L | 0.973 |
| 9:136946504:T:G | F165C | 0.973 |
| 9:136946505:T:A | F165L | 0.973 |
| 9:136946505:T:G | F165L | 0.973 |
| 9:136946657:G:A | C188Y | 0.969 |
| 9:136945658:G:C | A55P | 0.967 |
| 9:136945939:T:A | C96S | 0.965 |
| 9:136945940:G:C | C96S | 0.965 |
| 9:136946656:T:A | C188S | 0.964 |
| 9:136946657:G:C | C188S | 0.964 |
| 9:136945940:G:A | C96Y | 0.963 |
| 9:136946555:T:G | F182C | 0.962 |
| 9:136946145:C:A | A136D | 0.961 |
| 9:136946504:T:C | F165S | 0.954 |
| 9:136945941:C:G | C96W | 0.953 |
| 9:136945659:C:A | A55D | 0.950 |
| 9:136945987:T:C | F112L | 0.947 |
| 9:136945989:C:A | F112L | 0.947 |
| 9:136945989:C:G | F112L | 0.947 |
| 9:136945939:T:C | C96R | 0.945 |
| 9:136946657:G:T | C188F | 0.945 |
dbSNP variants (sampled 300 via entrez): RS1000090562 (9:136947040 C>T), RS1000096153 (9:136944601 G>A), RS1001147315 (9:136943759 C>A,G), RS1001178432 (9:136943836 A>G,T), RS1001268439 (9:136944754 G>C,T), RS1001896979 (9:136943263 A>C,T), RS1002303627 (9:136945307 C>A), RS1002930194 (9:136945990 C>A,G,T), RS1002945387 (9:136943812 C>G), RS1004106742 (9:136945856 C>A,T), RS1004545737 (9:136944946 T>A,C,G), RS1004793954 (9:136944768 C>G,T), RS1005083108 (9:136944876 C>G,T), RS1005451007 (9:136943244 A>C,G,T), RS1005497833 (9:136946717 G>A)
Disease associations
OMIM: gene MIM:120930 | disease phenotypes: MIM:300755
GenCC curated gene-disease
Mondo (1): immunodeficiency disease (MONDO:0021094)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST90013442_14 | Keratoconus | 1.000000e-11 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
38 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 2 |
| Benzo(a)pyrene | decreases expression | 2 |
| Tetrachlorodibenzodioxin | increases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| Aflatoxin B1 | affects expression, decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| methyleugenol | decreases expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| tributyltin | affects binding, decreases reaction | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| dibutyldichlorotin | affects binding, affects reaction, increases abundance | 1 |
| 1-anilino-8-naphthalenesulfonate | affects binding | 1 |
| triphenyltin | affects binding, affects reaction, increases abundance, decreases reaction | 1 |
| 11-(dansylamino)undecanoic acid | affects binding | 1 |
| di-n-butyltin | increases abundance, affects binding, affects reaction | 1 |
| diphenyltin | affects binding, affects reaction, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| diphenyltin chloride | affects binding, affects reaction, increases abundance | 1 |
| triphenyllead chloride | affects binding, decreases reaction | 1 |
| abrine | increases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| Rosiglitazone | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Troglitazone | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Cadmium | affects binding | 1 |
| Estradiol | decreases expression | 1 |
| Nickel | affects binding | 1 |
Clinical trials (associated diseases)
247 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00001542 | PHASE4 | COMPLETED | Fluconazole Prophylaxis of Thrush in AIDS |
| NCT00144157 | PHASE4 | COMPLETED | Open Label Study of NVP+CBV Treatment in Women Who Have Received sdNVP for the pMTCT of HIV |
| NCT00162643 | PHASE4 | UNKNOWN | PI Vs. NNRTI Based Therapy for HIV Advanced Disease |
| NCT00273988 | PHASE4 | COMPLETED | Pharmacokinetic Study of Interaction Between Nevirapine and Methadone in HIV-1 Infected, Opioid-dependent Adults |
| NCT00981318 | PHASE4 | TERMINATED | Pilot Assessment of Lopinavir/Ritonavir and Maraviroc |
| NCT01086878 | PHASE4 | COMPLETED | Safety of Cotrimoxazole in HIV- and HAART-exposed Infants |
| NCT01090102 | PHASE4 | COMPLETED | Mesalamine to Reduce T Cell Activation in HIV Infection |
| NCT01147042 | PHASE4 | TERMINATED | Biochemical Response to Interferon-Gamma in Subjects With Specific Gene Mutation in Chronic Granulomatous Disease |
| NCT01230580 | PHASE4 | UNKNOWN | Protease Inhibitor Monotherapy Versus Ongoing Triple-therapy in the Long Term Management of HIV Infection (PIVOT) |
| NCT01465958 | PHASE4 | COMPLETED | Pharmacokinetics, Safety, and Tolerability of Subcutaneous GAMUNEX-C in Pediatric Subjects With Primary Immunodeficiency |
| NCT02274662 | PHASE4 | COMPLETED | Expanded Access Protocol Thymus Transplantation |
| NCT02348177 | PHASE4 | COMPLETED | Pharmacokinetics of Lopinavir/Ritonavir Superboosting in Infants and Young Children Co-infected With HIV and TB |
| NCT02396979 | PHASE4 | COMPLETED | Intervention of HIV, Drug Use and the Criminal Justice System in Malaysia |
| NCT02490956 | PHASE4 | UNKNOWN | Diagnostic Immunization With Rabies Vaccine in Patients With PID |
| NCT02503293 | PHASE4 | COMPLETED | A Study to Compare Quality of Life and Satisfaction in Primary Immunodeficient Patients Treated With Subcutaneous Injections of Gammanorm® 165 mg/mL Administered With Two Different Delivery Devices: Injections Using Pump or Rapid Push |
| NCT02881437 | PHASE4 | COMPLETED | IgG Level in Primary Immunodeficiency Switching From Standard SCIG to Every Other Week HyQvia |
| NCT03033745 | PHASE4 | COMPLETED | Safety and Tolerability of Higher Infusion Parameters of IgPro20 (Hizentra) in Subjects With Primary Immunodeficiency (PID) |
| NCT03677557 | PHASE4 | UNKNOWN | Safety, Tolerability, Patient Satisfaction and Cost of 16.5% Subcutaneous Immunoglobulin (Cutaquig®) Treatment |
| NCT04192487 | PHASE4 | COMPLETED | Effects of Crofelemer on the Gut Microbiome in Healthy Volunteers and in HIV+ Patients With Non-Infectious Diarrhea |
| NCT04566692 | PHASE4 | COMPLETED | A Study to Evaluate IGSC 20% Biweekly Dosing in Treatment-Experienced Participants and Loading/Maintenance Dosing in Treatment-Naïve Participants With Primary Immunodeficiency |
| NCT05493969 | PHASE4 | NOT_YET_RECRUITING | Efficacy and Tolerability of DTG Plus 3TC in HIV Infected Adults With Virologically Suppression and TDF Toxicity |
| NCT06576024 | PHASE4 | COMPLETED | Immunogenicity and Safety of Inactivated Hepatitis A Vaccine in HIV-infected People |
| NCT06634641 | PHASE4 | RECRUITING | Clozapine-related Immunodeficiency in Parkinsons Disease |
| NCT07076446 | PHASE4 | ACTIVE_NOT_RECRUITING | An Open-label, Multicenter Study to Assess the Pharmacokinetics (PK), Safety, and Tolerability of Subcutaneous IgPro20 in Immunoglobulin (IG) Treatment-naïve Participants With Primary Immunodeficiency (PID) |
| NCT00000118 | PHASE3 | COMPLETED | Ganciclovir Implant Study for Cytomegalovirus Retinitis |
| NCT00000134 | PHASE3 | COMPLETED | Studies of the Ocular Complications of AIDS (SOCA)–Cytomegalovirus Retinitis Retreatment Trial (CRRT) |
| NCT00000590 | PHASE3 | COMPLETED | Anti-HIV Immunoglobulin (HIVIG) in Prevention of Maternal-Fetal HIV Transmission (Pediatric ACTG Protocol 185) |
| NCT00001267 | PHASE3 | COMPLETED | A Randomized Pilot Study for the Treatment of AIDS or AIDS Related Complex With an Alternating or Simultaneous Combination Regimen of AZT and 2’,3’-Dideoxyinosine |
| NCT00001646 | PHASE3 | COMPLETED | Voriconazole vs. Amphotericin B in the Treatment of Invasive Aspergillosis |
| NCT00144183 | PHASE3 | COMPLETED | A Study of Single Dose Nevirapine (NVP) Combined With Combivir® for the Prevention of Mother to Child Transmission (pMTCT) - Treatment Options Preservation Study (TOPS) |
| NCT00243568 | PHASE3 | WITHDRAWN | Vicriviroc, a CCR5 Inhibitor, Added to an Optimized Antiretroviral Therapy for Previously Treated HIV (VICTOR-E2) (Study P04285 |
| NCT00278954 | PHASE3 | COMPLETED | Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases. |
| NCT00474370 | PHASE3 | COMPLETED | Vicriviroc in HIV-Treatment Experienced Subjects (Study P04889AM8)(COMPLETED) |
| NCT00478231 | PHASE3 | COMPLETED | Multicenter, Safety Study Of Maraviroc |
| NCT00523211 | PHASE3 | COMPLETED | Vicriviroc in HIV-Treatment Experienced Subjects (Study P04405AM5) |
| NCT00698334 | PHASE3 | COMPLETED | Efficacy of Thrice Weekly Directly Observed Treatment, Short-course (DOTS) in HIV-associated Tuberculosis |
| NCT00966160 | PHASE3 | COMPLETED | CD4 Cell Recovery in HIV-1 Patients Comparing 2 Treatment Regimes |
| NCT01363011 | PHASE3 | COMPLETED | Cobicistat-containing Highly Active Antiretroviral Regimens in HIV-1 Infected Patients With Mild to Moderate Renal Impairment |
| NCT01440569 | PHASE3 | COMPLETED | Safety and Efficacy of Cobicistat-boosted Darunavir in HIV Infected Adults |
| NCT01475838 | PHASE3 | COMPLETED | Study to Evaluate Switching From Regimens Consisting of a Ritonavir-boosted Protease Inhibitor Plus Emtricitabine/Tenofovir Fixed-Dose Combination to the Elvitegravir/Cobicistat/Emtricitabine/Tenofovir DF Single-Tablet Regimen in Virologically Suppressed, HIV-1 Infected Patients |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): immunodeficiency disease, keratoconus