RGS10
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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
| Field | Value |
|---|---|
| HGNC ID | HGNC:9992 |
| Approved symbol | RGS10 |
| Name | regulator of G protein signaling 10 |
| Location | 10q26.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000148908 |
| Ensembl biotype | protein_coding |
| OMIM | 602856 |
| Entrez | 6001 |
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
| Exon | Start | End |
|---|---|---|
| ENSE00000988020 | 119526032 | 119526118 |
| ENSE00000988021 | 119515509 | 119515652 |
| ENSE00001095534 | 119527306 | 119527424 |
| ENSE00001429158 | 119542590 | 119542719 |
| ENSE00003843858 | 119499817 | 119500259 |
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 ID | TPM avg | Samples expressed |
|---|---|---|
| 111692 | 37.1160 | 1805 |
| 111691 | 8.9730 | 1540 |
| 111688 | 0.2045 | 97 |
| 111689 | 0.0931 | 55 |
Top tissues by expression
292 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| monocyte | CL:0000576 | 99.09 | gold quality |
| mononuclear cell | CL:0000842 | 98.98 | gold quality |
| leukocyte | CL:0000738 | 98.85 | gold quality |
| thymus | UBERON:0002370 | 98.12 | gold quality |
| granulocyte | CL:0000094 | 97.36 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 97.02 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 96.62 | gold quality |
| periodontal ligament | UBERON:0008266 | 96.43 | gold quality |
| blood | UBERON:0000178 | 96.34 | gold quality |
| lymph node | UBERON:0000029 | 95.96 | gold quality |
| sigmoid colon | UBERON:0001159 | 95.81 | gold quality |
| vermiform appendix | UBERON:0001154 | 95.44 | gold quality |
| rectum | UBERON:0001052 | 95.33 | gold quality |
| caecum | UBERON:0001153 | 94.79 | gold quality |
| bone marrow | UBERON:0002371 | 94.61 | gold quality |
| stromal cell of endometrium | CL:0002255 | 94.52 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 94.52 | gold quality |
| colonic epithelium | UBERON:0000397 | 94.47 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 94.02 | gold quality |
| right uterine tube | UBERON:0001302 | 93.97 | gold quality |
| synovial joint | UBERON:0002217 | 93.97 | gold quality |
| gall bladder | UBERON:0002110 | 93.96 | gold quality |
| endocervix | UBERON:0000458 | 93.79 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 93.76 | gold quality |
| large intestine | UBERON:0000059 | 93.68 | gold quality |
| colon | UBERON:0001155 | 93.63 | gold quality |
| calcaneal tendon | UBERON:0003701 | 93.61 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 93.44 | gold quality |
| spinal cord | UBERON:0002240 | 93.24 | gold quality |
| intestine | UBERON:0000160 | 93.22 | gold quality |
Single-cell (SCXA)
Detected in 31 experiment(s), a significant marker in 28.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-149689 | yes | 8363.04 |
| E-MTAB-10432 | yes | 5441.40 |
| E-MTAB-8207 | yes | 3993.43 |
| E-MTAB-8322 | yes | 2592.74 |
| E-HCAD-56 | yes | 623.91 |
| E-MTAB-9388 | yes | 147.14 |
| E-HCAD-4 | yes | 119.82 |
| E-MTAB-6701 | yes | 71.11 |
| E-HCAD-1 | yes | 59.73 |
| E-HCAD-10 | yes | 58.68 |
| E-HCAD-11 | yes | 45.81 |
| E-CURD-46 | yes | 40.76 |
| E-MTAB-10553 | yes | 37.43 |
| E-CURD-122 | yes | 34.19 |
| E-CURD-112 | yes | 32.68 |
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):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-187-5P | 99.74 | 70.26 | 1404 |
| HSA-MIR-199A-5P | 99.51 | 69.71 | 1107 |
| HSA-MIR-199B-5P | 99.51 | 69.74 | 1098 |
| HSA-MIR-330-3P | 99.41 | 69.95 | 2521 |
| HSA-MIR-103A-1-5P | 99.39 | 67.78 | 1545 |
| HSA-MIR-103A-2-5P | 99.39 | 67.72 | 1577 |
| HSA-MIR-3908 | 98.75 | 67.31 | 1160 |
| HSA-MIR-6864-5P | 98.38 | 66.59 | 1079 |
| HSA-MIR-1910-5P | 97.42 | 66.36 | 844 |
| HSA-MIR-3121-5P | 97.30 | 66.62 | 1146 |
| HSA-MIR-6774-3P | 89.14 | 65.20 | 68 |
| HSA-MIR-941 | 79.36 | 58.80 | 51 |
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
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Rgs10 | ENSMUSG00000030844 |
| rattus_norvegicus | Rgs10 | ENSRNOG00000042592 |
| drosophila_melanogaster | loco | FBGN0020278 |
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 10 — O43665 (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 ID | Names | Canonical? |
|---|---|---|
| O43665-3 | 3 | yes |
| O43665-1 | 1 | |
| O43665-2 | 2 |
RefSeq proteins (2): NP_001005339, NP_002916 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR016137 | RGS | Domain |
| IPR024066 | RGS_subdom1/3 | Homologous_superfamily |
| IPR036305 | RGS_sf | Homologous_superfamily |
| IPR037879 | RGS10_RGS | Domain |
| IPR044926 | RGS_subdomain_2 | Homologous_superfamily |
| IPR046995 | RGS10/12/14-like | Family |
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.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2IHB | X-RAY DIFFRACTION | 2.71 |
| 2DLR | SOLUTION NMR | |
| 2I59 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O43665-F1 | 82.20 | 0.60 |
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):
| Position | Phenotype |
|---|---|
| 176 | abolishes phosphorylation site and leads to strongly reduced overall phosphorylation. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-418594 | G 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:
| Category | Pathways |
|---|---|
| GPCR downstream signalling | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| signal transduction | 2 |
| G protein-coupled receptor signaling pathway | 2 |
| regulation of signal transduction | 2 |
| GTPase activity | 2 |
| G protein-coupled receptor activity | 1 |
| G protein-coupled acetylcholine receptor activity | 1 |
| acetylcholine receptor signaling pathway | 1 |
| negative regulation of cell communication | 1 |
| negative regulation of signaling | 1 |
| negative regulation of response to stimulus | 1 |
| regulation of GTPase activity | 1 |
| positive regulation of hydrolase activity | 1 |
| protein binding | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| enzyme activator activity | 1 |
| GTPase regulator activity | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| nucleoplasm | 1 |
| intracellular membraneless organelle | 1 |
| cell junction | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1106 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RGS10 | GNB5 | O14775 | 878 |
| RGS10 | SUCLG2 | Q96I99 | 847 |
| RGS10 | GNAQ | P50148 | 783 |
| RGS10 | ARHGEF11 | O15085 | 778 |
| RGS10 | ARHGEF1 | Q92888 | 775 |
| RGS10 | RGSL1 | A5PLK6 | 759 |
| RGS10 | GRK2 | P25098 | 755 |
| RGS10 | GNAO1 | P09471 | 736 |
| RGS10 | RGS7BP | Q6MZT1 | 726 |
| RGS10 | MCF2 | P10911 | 705 |
| RGS10 | GNA13 | Q14344 | 692 |
| RGS10 | PLEK | P08567 | 685 |
| RGS10 | AKAP10 | O43572 | 659 |
| RGS10 | PLEK2 | Q9NYT0 | 650 |
| RGS10 | ARHGEF25 | Q86VW2 | 634 |
IntAct
13 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RGS10 | PLEKHF2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| IL1R2 | EXOC5 | psi-mi:“MI:0914”(association) | 0.530 |
| Gnao1 | RGS10 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| BBS1 | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| DNAJB6 | SCAMP1 | psi-mi:“MI:0914”(association) | 0.350 |
| EIF6 | RGS10 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ARF6 | RGS10 | psi-mi:“MI:0915”(physical association) | 0.000 |
| RGS10 | psi-mi:“MI:0915”(physical association) | 0.000 | |
| SAP18 | RGS10 | psi-mi:“MI:0915”(physical association) | 0.000 |
| RGS10 | SAP18 | psi-mi:“MI:0915”(physical association) | 0.000 |
| RGS10 | PLEKHF2 | psi-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.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PRKACA | “down-regulates activity” | RGS10 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
21 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 15 |
| Likely benign | 0 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1301 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:119500255:AAGAT:A | acceptor_gain | 1.0000 |
| 10:119515650:CAT:C | acceptor_gain | 1.0000 |
| 10:119527334:T:TA | donor_gain | 1.0000 |
| 10:119542584:GCTTA:G | donor_loss | 1.0000 |
| 10:119542585:CTTAC:C | donor_loss | 1.0000 |
| 10:119542586:TTAC:T | donor_loss | 1.0000 |
| 10:119542587:TAC:T | donor_loss | 1.0000 |
| 10:119542588:A:AC | donor_gain | 1.0000 |
| 10:119542588:A:AT | donor_loss | 1.0000 |
| 10:119542589:C:CC | donor_gain | 1.0000 |
| 10:119542589:C:CG | donor_loss | 1.0000 |
| 10:119542589:CCTGA:C | donor_gain | 1.0000 |
| 10:119500256:AGAT:A | acceptor_gain | 0.9900 |
| 10:119500257:GAT:G | acceptor_gain | 0.9900 |
| 10:119500257:GATC:G | acceptor_loss | 0.9900 |
| 10:119500258:AT:A | acceptor_gain | 0.9900 |
| 10:119500259:TCTAA:T | acceptor_loss | 0.9900 |
| 10:119500260:C:CC | acceptor_gain | 0.9900 |
| 10:119500260:CT:C | acceptor_loss | 0.9900 |
| 10:119500261:T:C | acceptor_loss | 0.9900 |
| 10:119515503:GGTTA:G | donor_loss | 0.9900 |
| 10:119515504:GTTA:G | donor_loss | 0.9900 |
| 10:119515505:TTA:T | donor_loss | 0.9900 |
| 10:119515506:TAC:T | donor_loss | 0.9900 |
| 10:119515507:AC:A | donor_loss | 0.9900 |
| 10:119515508:C:CA | donor_loss | 0.9900 |
| 10:119515649:GCAT:G | acceptor_gain | 0.9900 |
| 10:119515650:CATC:C | acceptor_gain | 0.9900 |
| 10:119515651:AT:A | acceptor_gain | 0.9900 |
| 10:119515653:C:CC | acceptor_gain | 0.9900 |
AlphaMissense
1223 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:119500249:A:G | L137P | 1.000 |
| 10:119515617:A:C | F97L | 1.000 |
| 10:119515617:A:T | F97L | 1.000 |
| 10:119515619:A:G | F97L | 1.000 |
| 10:119526098:G:C | F63L | 1.000 |
| 10:119526098:G:T | F63L | 1.000 |
| 10:119526100:A:G | F63L | 1.000 |
| 10:119526113:A:C | F58L | 1.000 |
| 10:119526113:A:T | F58L | 1.000 |
| 10:119526115:A:G | F58L | 1.000 |
| 10:119500221:G:C | F146L | 0.999 |
| 10:119500221:G:T | F146L | 0.999 |
| 10:119500222:A:G | F146S | 0.999 |
| 10:119500223:A:G | F146L | 0.999 |
| 10:119500225:C:G | R145P | 0.999 |
| 10:119500226:G:T | R145S | 0.999 |
| 10:119500233:G:C | S142R | 0.999 |
| 10:119500233:G:T | S142R | 0.999 |
| 10:119500235:T:G | S142R | 0.999 |
| 10:119500236:G:C | D141E | 0.999 |
| 10:119500236:G:T | D141E | 0.999 |
| 10:119500237:T:A | D141V | 0.999 |
| 10:119500237:T:C | D141G | 0.999 |
| 10:119500237:T:G | D141A | 0.999 |
| 10:119500238:C:G | D141H | 0.999 |
| 10:119500246:A:C | M138R | 0.999 |
| 10:119500246:A:G | M138T | 0.999 |
| 10:119515528:A:G | F127S | 0.999 |
| 10:119515587:G:C | N107K | 0.999 |
| 10:119515587:G:T | N107K | 0.999 |
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
| Disease | Classification | Inheritance |
|---|---|---|
| immunodeficiency disease | Limited | Autosomal 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):
| Study | Trait | p-value |
|---|---|---|
| GCST003835_1 | Depressive symptoms (stressful life events interaction) | 4.000000e-08 |
| GCST004227_13 | Obstetric antiphospholipid syndrome | 5.000000e-06 |
| GCST010397_83 | Gut microbiota (bacterial taxa, rank normal transformation method) | 8.000000e-06 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007006 | depressive symptom measurement |
| EFO:0007781 | stressful life event measurement |
| EFO:0007874 | gut 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.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases methylation, affects cotreatment, increases expression | 8 |
| Benzo(a)pyrene | increases expression, affects methylation | 6 |
| Estradiol | affects cotreatment, decreases expression, affects expression, increases reaction, increases expression | 5 |
| Cyclosporine | decreases expression, increases expression | 4 |
| Cisplatin | increases response to substance, affects expression, affects cotreatment, increases expression, decreases expression | 3 |
| Tetrachlorodibenzodioxin | increases expression | 3 |
| Smoke | decreases expression, increases abundance | 2 |
| Tretinoin | decreases expression, increases expression | 2 |
| Genistein | increases expression | 2 |
| FR900359 | decreases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| methylselenic acid | increases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Docetaxel | increases response to substance | 1 |
| Decitabine | affects expression | 1 |
| Sunitinib | decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Vorinostat | increases expression | 1 |
| Leflunomide | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Carbamazepine | affects expression | 1 |
| Catechin | affects cotreatment, decreases expression | 1 |
| Diazinon | increases methylation | 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
- Associated diseases: immunodeficiency disease
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): antiphospholipid syndrome, immunodeficiency disease