RGS10

gene
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Summary

RGS10 (regulator of G protein signaling 10, HGNC:9992) is a protein-coding gene on chromosome 10q26.11, encoding Regulator of G-protein signaling 10 (O43665). Regulates G protein-coupled receptor signaling cascades, including signaling downstream of the muscarinic acetylcholine receptor CHRM2.

Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G proteins into their inactive GDP-bound forms. Regulator of G protein signaling 10 belongs to this family. All RGS proteins share a conserved 120-amino acid sequence termed the RGS domain. This protein associates specifically with the activated forms of the two related G-protein subunits, G-alphai3 and G-alphaz but fails to interact with the structurally and functionally distinct G-alpha subunits. Regulator of G protein signaling 10 protein is localized in the nucleus. Two transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 6001 — RefSeq curated summary.

At a glance

  • Gene–disease (curated): immunodeficiency disease (Limited, GenCC)
  • GWAS associations: 3
  • Clinical variants (ClinVar): 21 total
  • MANE Select transcript: NM_001005339

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:9992
Approved symbolRGS10
Nameregulator of G protein signaling 10
Location10q26.11
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000148908
Ensembl biotypeprotein_coding
OMIM602856
Entrez6001

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 8 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000369101, ENST00000369103, ENST00000392865, ENST00000469575, ENST00000473563, ENST00000903912, ENST00000903913, ENST00000939616, ENST00000949340, ENST00000949341

RefSeq mRNA: 2 — MANE Select: NM_001005339 NM_001005339, NM_002925

CCDS: CCDS31294, CCDS41572

Canonical transcript exons

ENST00000369103 — 5 exons

ExonStartEnd
ENSE00000988020119526032119526118
ENSE00000988021119515509119515652
ENSE00001095534119527306119527424
ENSE00001429158119542590119542719
ENSE00003843858119499817119500259

Expression profiles

Bgee: expression breadth ubiquitous, 276 present calls, max score 99.09.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 46.3867 / max 814.2416, expressed in 1810 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter IDTPM avgSamples expressed
11169237.11601805
1116918.97301540
1116880.204597
1116890.093155

Top tissues by expression

292 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
monocyteCL:000057699.09gold quality
mononuclear cellCL:000084298.98gold quality
leukocyteCL:000073898.85gold quality
thymusUBERON:000237098.12gold quality
granulocyteCL:000009497.36gold quality
muscle layer of sigmoid colonUBERON:003580597.02gold quality
trabecular bone tissueUBERON:000248396.62gold quality
periodontal ligamentUBERON:000826696.43gold quality
bloodUBERON:000017896.34gold quality
lymph nodeUBERON:000002995.96gold quality
sigmoid colonUBERON:000115995.81gold quality
vermiform appendixUBERON:000115495.44gold quality
rectumUBERON:000105295.33gold quality
caecumUBERON:000115394.79gold quality
bone marrowUBERON:000237194.61gold quality
stromal cell of endometriumCL:000225594.52gold quality
smooth muscle tissueUBERON:000113594.52gold quality
colonic epitheliumUBERON:000039794.47gold quality
layer of synovial tissueUBERON:000761694.02gold quality
right uterine tubeUBERON:000130293.97gold quality
synovial jointUBERON:000221793.97gold quality
gall bladderUBERON:000211093.96gold quality
endocervixUBERON:000045893.79gold quality
C1 segment of cervical spinal cordUBERON:000646993.76gold quality
large intestineUBERON:000005993.68gold quality
colonUBERON:000115593.63gold quality
calcaneal tendonUBERON:000370193.61gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099193.44gold quality
spinal cordUBERON:000224093.24gold quality
intestineUBERON:000016093.22gold quality

Single-cell (SCXA)

Detected in 31 experiment(s), a significant marker in 28.

ExperimentMarker?Max mean expression
E-GEOD-149689yes8363.04
E-MTAB-10432yes5441.40
E-MTAB-8207yes3993.43
E-MTAB-8322yes2592.74
E-HCAD-56yes623.91
E-MTAB-9388yes147.14
E-HCAD-4yes119.82
E-MTAB-6701yes71.11
E-HCAD-1yes59.73
E-HCAD-10yes58.68
E-HCAD-11yes45.81
E-CURD-46yes40.76
E-MTAB-10553yes37.43
E-CURD-122yes34.19
E-CURD-112yes32.68

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): DNMT1, HDAC1

miRNA regulators (miRDB)

17 targeting RGS10, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-4795-3P100.0074.624024
HSA-MIR-126-5P100.0072.713180
HSA-MIR-493-5P99.9672.472382
HSA-MIR-1468-3P99.9672.743797
HSA-MIR-5582-3P99.8672.484221
HSA-MIR-187-5P99.7470.261404
HSA-MIR-199A-5P99.5169.711107
HSA-MIR-199B-5P99.5169.741098
HSA-MIR-330-3P99.4169.952521
HSA-MIR-103A-1-5P99.3967.781545
HSA-MIR-103A-2-5P99.3967.721577
HSA-MIR-390898.7567.311160
HSA-MIR-6864-5P98.3866.591079
HSA-MIR-1910-5P97.4266.36844
HSA-MIR-3121-5P97.3066.621146
HSA-MIR-6774-3P89.1465.2068
HSA-MIR-94179.3658.8051

Literature-anchored findings (GeneRIF, showing 17)

  • diffraction data were collected to 2.5 A resolution at 100 K using synchrotron radiation at Pohang beamline 4A (PMID:16511171)
  • Results demonstrate the specificity of RGS10A as a key component in the RANKL-evoked signaling pathway for osteoclast differentiation. (PMID:17881498)
  • RGS10 and RGS4 proteins are both detected in postmortem prefrontal cortex. (PMID:20816714)
  • Results establish RGS10 and RGS17 as novel regulators of cell survival and chemoresistance in ovarian cancer cells and suggest that their reduced expression may be diagnostic of chemoresistance. (PMID:21044322)
  • RGS10 is a key molecule that contributes to the inhibition of Galpha-dependent signaling during chemokine-activated alpha4beta1- and alphaLbeta2-dependent T cell adhesion. (PMID:21705617)
  • Data show that that SPL/RGS/SHP1 complexes are present in resting platelets where constitutive phosphorylation of SPL(Y398) creates an atypical binding site for SHP-1. (PMID:22210881)
  • The results suggest unaltered membrane RGS4 and cytosolic RGS10 proteins levels in schizophrenia and major depression. (PMID:23093381)
  • Inhibition of HDAC1 and DNMT1 modulate RGS10 expression and decrease ovarian cancer chemoresistance. (PMID:24475290)
  • RGS10 plays a role in chemoresistance in ovarian cancer. Loss of RGS10 enhances survival among these cells. (PMID:26293348)
  • RGS10 could serve in a novel, and previously unknown, role by accelerating the hydrolysis of GTP from Rheb in ovarian cancer cells. (PMID:26319900)
  • RGS10 inhibits COX-2 expression. (PMID:30049816)
  • Regulator of G protein signaling 10: Structure, expression and functions in cellular physiology and diseases. (PMID:32882407)
  • A broad analysis in clinical and in vitro models on regulator of G-protein signalling 10 regulation that is associated with ovarian cancer progression and chemoresistance. (PMID:33354811)
  • Short stature and combined immunodeficiency associated with mutations in RGS10. (PMID:34315806)
  • Experimental colitis promotes sustained, sex-dependent, T-cell-associated neuroinflammation and parkinsonian neuropathology. (PMID:34412704)
  • RGS10 suppression by DNA methylation is associated with low survival rates in colorectal carcinoma. (PMID:35810565)
  • Epigenetic insights into Familial Mediterranean Fever: Increased RGS10 expression and histone modifications accompanies inflammation in familial Mediterranean fever disease. (PMID:38331118)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
mus_musculusRgs10ENSMUSG00000030844
rattus_norvegicusRgs10ENSRNOG00000042592
drosophila_melanogasterlocoFBGN0020278

Paralogs (23): RGS11 (ENSG00000076344), RGS1 (ENSG00000090104), RGS17 (ENSG00000091844), AXIN1 (ENSG00000103126), RGS9 (ENSG00000108370), RGS2 (ENSG00000116741), RGS4 (ENSG00000117152), RGSL1 (ENSG00000121446), RGS13 (ENSG00000127074), RGS22 (ENSG00000132554), RGS8 (ENSG00000135824), RGS3 (ENSG00000138835), RGS5 (ENSG00000143248), RGS16 (ENSG00000143333), RGS20 (ENSG00000147509), RGS18 (ENSG00000150681), RGS12 (ENSG00000159788), AXIN2 (ENSG00000168646), RGS14 (ENSG00000169220), RGS19 (ENSG00000171700), RGS6 (ENSG00000182732), RGS7 (ENSG00000182901), RGS21 (ENSG00000253148)

Protein

Protein identifiers

Regulator of G-protein signaling 10O43665 (reviewed: O43665)

All UniProt accessions (1): O43665

UniProt curated annotations — full annotation on UniProt →

Function. Regulates G protein-coupled receptor signaling cascades, including signaling downstream of the muscarinic acetylcholine receptor CHRM2. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. Modulates the activity of potassium channels that are activated in response to CHRM2 signaling. Activity on GNAZ is inhibited by palmitoylation of the G-protein.

Subunit / interactions. Interacts with GNAZ, GNAI1 and GNAI3. Associates specifically with the activated, GTP-bound forms of GNAZ and GNAI3.

Subcellular location. Cytoplasm. Cytosol. Nucleus Nucleus.

Isoforms (3)

UniProt IDNamesCanonical?
O43665-33yes
O43665-11
O43665-22

RefSeq proteins (2): NP_001005339, NP_002916 (=MANE)

Domains & families (InterPro)

IDNameType
IPR016137RGSDomain
IPR024066RGS_subdom1/3Homologous_superfamily
IPR036305RGS_sfHomologous_superfamily
IPR037879RGS10_RGSDomain
IPR044926RGS_subdomain_2Homologous_superfamily
IPR046995RGS10/12/14-likeFamily

Pfam: PF00615

UniProt features (26 total): helix 10, turn 3, modified residue 3, splice variant 2, region of interest 2, chain 1, domain 1, sequence variant 1, mutagenesis site 1, compositionally biased region 1, lipid moiety-binding region 1

Structure

Experimental structures (PDB)

3 structures.

PDBMethodResolution (Å)
2IHBX-RAY DIFFRACTION2.71
2DLRSOLUTION NMR
2I59SOLUTION NMR

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-O43665-F182.200.60

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 (4): 24, 41, 176, 74

Mutagenesis-validated functional residues (1):

PositionPhenotype
176abolishes phosphorylation site and leads to strongly reduced overall phosphorylation.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

IDPathway
R-HSA-418594G alpha (i) signalling events

MSigDB gene sets: 390 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, BENPORATH_ES_WITH_H3K27ME3, MODULE_45, GOBP_REGULATION_OF_GTPASE_ACTIVITY, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, MODULE_16, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_CELL_CELL_SIGNALING, MODULE_118, GOBP_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY, GOBP_REGULATION_OF_HYDROLASE_ACTIVITY, GOBP_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION, SASAI_RESISTANCE_TO_NEOPLASTIC_TRANSFROMATION, WOO_LIVER_CANCER_RECURRENCE_UP

GO Biological Process (5): G protein-coupled receptor signaling pathway (GO:0007186), G protein-coupled acetylcholine receptor signaling pathway (GO:0007213), regulation of G protein-coupled receptor signaling pathway (GO:0008277), negative regulation of signal transduction (GO:0009968), positive regulation of GTPase activity (GO:0043547)

GO Molecular Function (4): G-protein alpha-subunit binding (GO:0001965), GTPase activity (GO:0003924), GTPase activator activity (GO:0005096), protein binding (GO:0005515)

GO Cellular Component (7): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), plasma membrane (GO:0005886), nuclear body (GO:0016604), synapse (GO:0045202), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-1 pathways:

CategoryPathways
GPCR downstream signalling1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure3
signal transduction2
G protein-coupled receptor signaling pathway2
regulation of signal transduction2
GTPase activity2
G protein-coupled receptor activity1
G protein-coupled acetylcholine receptor activity1
acetylcholine receptor signaling pathway1
negative regulation of cell communication1
negative regulation of signaling1
negative regulation of response to stimulus1
regulation of GTPase activity1
positive regulation of hydrolase activity1
protein binding1
ribonucleoside triphosphate phosphatase activity1
enzyme activator activity1
GTPase regulator activity1
binding1
intracellular membrane-bounded organelle1
nuclear lumen1
cytoplasm1
membrane1
cell periphery1
nucleoplasm1
intracellular membraneless organelle1
cell junction1
intracellular anatomical structure1

Protein interactions and networks

STRING

1106 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
RGS10GNB5O14775878
RGS10SUCLG2Q96I99847
RGS10GNAQP50148783
RGS10ARHGEF11O15085778
RGS10ARHGEF1Q92888775
RGS10RGSL1A5PLK6759
RGS10GRK2P25098755
RGS10GNAO1P09471736
RGS10RGS7BPQ6MZT1726
RGS10MCF2P10911705
RGS10GNA13Q14344692
RGS10PLEKP08567685
RGS10AKAP10O43572659
RGS10PLEK2Q9NYT0650
RGS10ARHGEF25Q86VW2634

IntAct

13 interactions, top by confidence:

ABTypeScore
RGS10PLEKHF2psi-mi:“MI:0915”(physical association)0.560
IL1R2EXOC5psi-mi:“MI:0914”(association)0.530
Gnao1RGS10psi-mi:“MI:0407”(direct interaction)0.440
BBS1SHTN1psi-mi:“MI:0914”(association)0.350
DNAJB6SCAMP1psi-mi:“MI:0914”(association)0.350
EIF6RGS10psi-mi:“MI:0915”(physical association)0.000
ARF6RGS10psi-mi:“MI:0915”(physical association)0.000
RGS10psi-mi:“MI:0915”(physical association)0.000
SAP18RGS10psi-mi:“MI:0915”(physical association)0.000
RGS10SAP18psi-mi:“MI:0915”(physical association)0.000
RGS10PLEKHF2psi-mi:“MI:0915”(physical association)0.000

BioGRID (17): RGS10 (Affinity Capture-MS), RGS10 (Affinity Capture-MS), SAP18 (Affinity Capture-MS), RGS10 (Affinity Capture-MS), PLEKHF2 (Two-hybrid), RGS10 (Affinity Capture-Western), RGS10 (Affinity Capture-Western), GNAI3 (Biochemical Activity), RGS10 (Affinity Capture-MS), RGS10 (Affinity Capture-MS), RGS10 (Affinity Capture-MS), RGS10 (Reconstituted Complex), RGS10 (Affinity Capture-MS), RGS10 (Affinity Capture-MS), APP (Reconstituted Complex)

ESM2 similar proteins: A1A643, O08849, O08850, O14921, O15539, O35119, O43665, O46470, O54829, P34295, P41220, P49758, P49800, P49802, P49803, P49806, P49808, P49809, P79100, P97844, Q08116, Q09777, Q0P5H5, Q10955, Q2KHW7, Q2M5E4, Q3S853, Q3T0T8, Q4L0E8, Q5M8L6, Q62240, Q6DGI0, Q6RG78, Q864Z2, Q8K443, Q8VYB9, Q99PG4, Q9CQE5, Q9FLY5, Q9JHX0

Diamond homologs: A1A643, F1S668, O08773, O08774, O08849, O08850, O08899, O14921, O14924, O15169, O15492, O15539, O35625, O42400, O43566, O43665, O46469, O46470, O46471, O54828, O54829, O70239, O70240, O70521, O75916, O76081, O88566, O94810, P34295, P41220, P49758, P49795, P49796, P49797, P49798, P49799, P49800, P49802, P49803, P49804

SIGNOR signaling

1 interactions.

AEffectBMechanism
PRKACA“down-regulates activity”RGS10phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

21 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance15
Likely benign0
Benign1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1301 predictions. Top by Δscore:

VariantEffectΔscore
10:119500255:AAGAT:Aacceptor_gain1.0000
10:119515650:CAT:Cacceptor_gain1.0000
10:119527334:T:TAdonor_gain1.0000
10:119542584:GCTTA:Gdonor_loss1.0000
10:119542585:CTTAC:Cdonor_loss1.0000
10:119542586:TTAC:Tdonor_loss1.0000
10:119542587:TAC:Tdonor_loss1.0000
10:119542588:A:ACdonor_gain1.0000
10:119542588:A:ATdonor_loss1.0000
10:119542589:C:CCdonor_gain1.0000
10:119542589:C:CGdonor_loss1.0000
10:119542589:CCTGA:Cdonor_gain1.0000
10:119500256:AGAT:Aacceptor_gain0.9900
10:119500257:GAT:Gacceptor_gain0.9900
10:119500257:GATC:Gacceptor_loss0.9900
10:119500258:AT:Aacceptor_gain0.9900
10:119500259:TCTAA:Tacceptor_loss0.9900
10:119500260:C:CCacceptor_gain0.9900
10:119500260:CT:Cacceptor_loss0.9900
10:119500261:T:Cacceptor_loss0.9900
10:119515503:GGTTA:Gdonor_loss0.9900
10:119515504:GTTA:Gdonor_loss0.9900
10:119515505:TTA:Tdonor_loss0.9900
10:119515506:TAC:Tdonor_loss0.9900
10:119515507:AC:Adonor_loss0.9900
10:119515508:C:CAdonor_loss0.9900
10:119515649:GCAT:Gacceptor_gain0.9900
10:119515650:CATC:Cacceptor_gain0.9900
10:119515651:AT:Aacceptor_gain0.9900
10:119515653:C:CCacceptor_gain0.9900

AlphaMissense

1223 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
10:119500249:A:GL137P1.000
10:119515617:A:CF97L1.000
10:119515617:A:TF97L1.000
10:119515619:A:GF97L1.000
10:119526098:G:CF63L1.000
10:119526098:G:TF63L1.000
10:119526100:A:GF63L1.000
10:119526113:A:CF58L1.000
10:119526113:A:TF58L1.000
10:119526115:A:GF58L1.000
10:119500221:G:CF146L0.999
10:119500221:G:TF146L0.999
10:119500222:A:GF146S0.999
10:119500223:A:GF146L0.999
10:119500225:C:GR145P0.999
10:119500226:G:TR145S0.999
10:119500233:G:CS142R0.999
10:119500233:G:TS142R0.999
10:119500235:T:GS142R0.999
10:119500236:G:CD141E0.999
10:119500236:G:TD141E0.999
10:119500237:T:AD141V0.999
10:119500237:T:CD141G0.999
10:119500237:T:GD141A0.999
10:119500238:C:GD141H0.999
10:119500246:A:CM138R0.999
10:119500246:A:GM138T0.999
10:119515528:A:GF127S0.999
10:119515587:G:CN107K0.999
10:119515587:G:TN107K0.999

dbSNP variants (sampled 300 via entrez): RS1000089163 (10:119524350 A>G), RS1000101707 (10:119538730 C>T), RS1000163449 (10:119525625 C>T), RS1000208429 (10:119513787 G>A,C,T), RS1000239533 (10:119513517 A>C), RS1000343882 (10:119514103 C>A,G), RS1000356002 (10:119507527 G>A), RS1000386111 (10:119544429 C>CTGT), RS1000640963 (10:119520270 A>G), RS1000701749 (10:119538161 G>T), RS1000765273 (10:119506757 G>A), RS1000803151 (10:119501438 G>A), RS1000831414 (10:119507848 C>G), RS1000870452 (10:119502483 G>A), RS1000932665 (10:119506357 G>A)

Disease associations

OMIM: gene MIM:602856 | disease phenotypes:

GenCC curated gene-disease

DiseaseClassificationInheritance
immunodeficiency diseaseLimitedAutosomal recessive

Mondo (1): immunodeficiency disease (MONDO:0021094)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

3 associations (top):

StudyTraitp-value
GCST003835_1Depressive symptoms (stressful life events interaction)4.000000e-08
GCST004227_13Obstetric antiphospholipid syndrome5.000000e-06
GCST010397_83Gut microbiota (bacterial taxa, rank normal transformation method)8.000000e-06

EFO canonical traits (3, from GWAS)

EFO IDTrait name
EFO:0007006depressive symptom measurement
EFO:0007781stressful life event measurement
EFO:0007874gut microbiome measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: other protein — R12 family

CTD chemical–gene interactions

44 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects expression, increases methylation, affects cotreatment, increases expression8
Benzo(a)pyreneincreases expression, affects methylation6
Estradiolaffects cotreatment, decreases expression, affects expression, increases reaction, increases expression5
Cyclosporinedecreases expression, increases expression4
Cisplatinincreases response to substance, affects expression, affects cotreatment, increases expression, decreases expression3
Tetrachlorodibenzodioxinincreases expression3
Smokedecreases expression, increases abundance2
Tretinoindecreases expression, increases expression2
Genisteinincreases expression2
FR900359decreases phosphorylation1
triphenyl phosphateaffects expression1
bisphenol Aaffects cotreatment, increases methylation1
methylselenic acidincreases expression1
tris(2-butoxyethyl) phosphateaffects expression1
tris(1,3-dichloro-2-propyl)phosphateincreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression1
ICG 001decreases expression1
Grape Seed Proanthocyanidinsaffects cotreatment, decreases expression1
dorsomorphinaffects cotreatment, increases expression1
jinfukangaffects cotreatment, increases expression1
Docetaxelincreases response to substance1
Decitabineaffects expression1
Sunitinibdecreases expression1
Fulvestrantaffects cotreatment, increases methylation1
Vorinostatincreases expression1
Leflunomideincreases expression1
Air Pollutantsdecreases expression, increases abundance1
Carbamazepineaffects expression1
Catechinaffects cotreatment, decreases expression1
Diazinonincreases methylation1

Clinical trials (associated diseases)

247 trials via MONDO — disease-level, not drug-specific.

TrialPhaseStatusTitle
NCT00001542PHASE4COMPLETEDFluconazole Prophylaxis of Thrush in AIDS
NCT00144157PHASE4COMPLETEDOpen Label Study of NVP+CBV Treatment in Women Who Have Received sdNVP for the pMTCT of HIV
NCT00162643PHASE4UNKNOWNPI Vs. NNRTI Based Therapy for HIV Advanced Disease
NCT00273988PHASE4COMPLETEDPharmacokinetic Study of Interaction Between Nevirapine and Methadone in HIV-1 Infected, Opioid-dependent Adults
NCT00981318PHASE4TERMINATEDPilot Assessment of Lopinavir/Ritonavir and Maraviroc
NCT01086878PHASE4COMPLETEDSafety of Cotrimoxazole in HIV- and HAART-exposed Infants
NCT01090102PHASE4COMPLETEDMesalamine to Reduce T Cell Activation in HIV Infection
NCT01147042PHASE4TERMINATEDBiochemical Response to Interferon-Gamma in Subjects With Specific Gene Mutation in Chronic Granulomatous Disease
NCT01230580PHASE4UNKNOWNProtease Inhibitor Monotherapy Versus Ongoing Triple-therapy in the Long Term Management of HIV Infection (PIVOT)
NCT01465958PHASE4COMPLETEDPharmacokinetics, Safety, and Tolerability of Subcutaneous GAMUNEX-C in Pediatric Subjects With Primary Immunodeficiency
NCT02274662PHASE4COMPLETEDExpanded Access Protocol Thymus Transplantation
NCT02348177PHASE4COMPLETEDPharmacokinetics of Lopinavir/Ritonavir Superboosting in Infants and Young Children Co-infected With HIV and TB
NCT02396979PHASE4COMPLETEDIntervention of HIV, Drug Use and the Criminal Justice System in Malaysia
NCT02490956PHASE4UNKNOWNDiagnostic Immunization With Rabies Vaccine in Patients With PID
NCT02503293PHASE4COMPLETEDA 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
NCT02881437PHASE4COMPLETEDIgG Level in Primary Immunodeficiency Switching From Standard SCIG to Every Other Week HyQvia
NCT03033745PHASE4COMPLETEDSafety and Tolerability of Higher Infusion Parameters of IgPro20 (Hizentra) in Subjects With Primary Immunodeficiency (PID)
NCT03677557PHASE4UNKNOWNSafety, Tolerability, Patient Satisfaction and Cost of 16.5% Subcutaneous Immunoglobulin (Cutaquig®) Treatment
NCT04192487PHASE4COMPLETEDEffects of Crofelemer on the Gut Microbiome in Healthy Volunteers and in HIV+ Patients With Non-Infectious Diarrhea
NCT04566692PHASE4COMPLETEDA Study to Evaluate IGSC 20% Biweekly Dosing in Treatment-Experienced Participants and Loading/Maintenance Dosing in Treatment-Naïve Participants With Primary Immunodeficiency
NCT05493969PHASE4NOT_YET_RECRUITINGEfficacy and Tolerability of DTG Plus 3TC in HIV Infected Adults With Virologically Suppression and TDF Toxicity
NCT06576024PHASE4COMPLETEDImmunogenicity and Safety of Inactivated Hepatitis A Vaccine in HIV-infected People
NCT06634641PHASE4RECRUITINGClozapine-related Immunodeficiency in Parkinsons Disease
NCT07076446PHASE4ACTIVE_NOT_RECRUITINGAn 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)
NCT00000118PHASE3COMPLETEDGanciclovir Implant Study for Cytomegalovirus Retinitis
NCT00000134PHASE3COMPLETEDStudies of the Ocular Complications of AIDS (SOCA)–Cytomegalovirus Retinitis Retreatment Trial (CRRT)
NCT00000590PHASE3COMPLETEDAnti-HIV Immunoglobulin (HIVIG) in Prevention of Maternal-Fetal HIV Transmission (Pediatric ACTG Protocol 185)
NCT00001267PHASE3COMPLETEDA 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
NCT00001646PHASE3COMPLETEDVoriconazole vs. Amphotericin B in the Treatment of Invasive Aspergillosis
NCT00144183PHASE3COMPLETEDA Study of Single Dose Nevirapine (NVP) Combined With Combivir® for the Prevention of Mother to Child Transmission (pMTCT) - Treatment Options Preservation Study (TOPS)
NCT00243568PHASE3WITHDRAWNVicriviroc, a CCR5 Inhibitor, Added to an Optimized Antiretroviral Therapy for Previously Treated HIV (VICTOR-E2) (Study P04285
NCT00278954PHASE3COMPLETEDEfficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases.
NCT00474370PHASE3COMPLETEDVicriviroc in HIV-Treatment Experienced Subjects (Study P04889AM8)(COMPLETED)
NCT00478231PHASE3COMPLETEDMulticenter, Safety Study Of Maraviroc
NCT00523211PHASE3COMPLETEDVicriviroc in HIV-Treatment Experienced Subjects (Study P04405AM5)
NCT00698334PHASE3COMPLETEDEfficacy of Thrice Weekly Directly Observed Treatment, Short-course (DOTS) in HIV-associated Tuberculosis
NCT00966160PHASE3COMPLETEDCD4 Cell Recovery in HIV-1 Patients Comparing 2 Treatment Regimes
NCT01363011PHASE3COMPLETEDCobicistat-containing Highly Active Antiretroviral Regimens in HIV-1 Infected Patients With Mild to Moderate Renal Impairment
NCT01440569PHASE3COMPLETEDSafety and Efficacy of Cobicistat-boosted Darunavir in HIV Infected Adults
NCT01475838PHASE3COMPLETEDStudy 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