RGS20
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Also known as RGSZ1ZGAP1
Summary
RGS20 (regulator of G protein signaling 20, HGNC:14600) is a protein-coding gene on chromosome 8q11.23, encoding Regulator of G-protein signaling 20 (O76081). Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form.
The protein encoded by this gene belongs to the family of regulator of G protein signaling (RGS) proteins, which are regulatory and structural components of G protein-coupled receptor complexes. RGS proteins inhibit signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound forms. This protein selectively binds to G(z)-alpha and G(alpha)-i2 subunits, and regulates their signaling activities. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 8601 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 77 total
- MANE Select transcript:
NM_003702
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14600 |
| Approved symbol | RGS20 |
| Name | regulator of G protein signaling 20 |
| Location | 8q11.23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RGSZ1, ZGAP1 |
| Ensembl gene | ENSG00000147509 |
| Ensembl biotype | protein_coding |
| OMIM | 607193 |
| Entrez | 8601 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 4 protein_coding, 4 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
ENST00000276500, ENST00000297313, ENST00000344277, ENST00000517405, ENST00000517659, ENST00000518286, ENST00000522225, ENST00000523064, ENST00000523280, ENST00000523414
RefSeq mRNA: 5 — MANE Select: NM_003702
NM_001286673, NM_001286674, NM_001286675, NM_003702, NM_170587
CCDS: CCDS6155, CCDS6156, CCDS69482
Canonical transcript exons
ENST00000276500 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002103643 | 53880872 | 53881084 |
| ENSE00003506955 | 53939576 | 53939724 |
| ENSE00003542199 | 53954076 | 53954310 |
| ENSE00003559471 | 53958270 | 53959303 |
| ENSE00003607399 | 53946665 | 53946748 |
Expression profiles
Bgee: expression breadth ubiquitous, 190 present calls, max score 94.00.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.8063 / max 80.8415, expressed in 1185 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 88856 | 1.2764 | 730 |
| 88851 | 1.2567 | 625 |
| 88857 | 0.7043 | 480 |
| 88854 | 0.5107 | 308 |
| 88855 | 0.4967 | 278 |
| 88853 | 0.1646 | 68 |
| 88852 | 0.1553 | 63 |
| 88850 | 0.1086 | 47 |
| 88849 | 0.1071 | 49 |
| 88848 | 0.0258 | 5 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| caudate nucleus | UBERON:0001873 | 94.00 | gold quality |
| nucleus accumbens | UBERON:0001882 | 93.79 | gold quality |
| putamen | UBERON:0001874 | 93.40 | gold quality |
| ventricular zone | UBERON:0003053 | 90.98 | gold quality |
| amygdala | UBERON:0001876 | 89.81 | gold quality |
| ganglionic eminence | UBERON:0004023 | 88.57 | gold quality |
| cingulate cortex | UBERON:0003027 | 86.72 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 86.69 | gold quality |
| right frontal lobe | UBERON:0002810 | 86.67 | gold quality |
| temporal lobe | UBERON:0001871 | 86.17 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 85.99 | gold quality |
| telencephalon | UBERON:0001893 | 85.42 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 85.22 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 83.60 | gold quality |
| Ammon’s horn | UBERON:0001954 | 83.07 | gold quality |
| neocortex | UBERON:0001950 | 82.89 | gold quality |
| cerebral cortex | UBERON:0000956 | 82.88 | gold quality |
| prefrontal cortex | UBERON:0000451 | 82.77 | gold quality |
| frontal cortex | UBERON:0001870 | 82.29 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 82.24 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 82.13 | gold quality |
| forebrain | UBERON:0001890 | 81.61 | gold quality |
| entorhinal cortex | UBERON:0002728 | 81.30 | gold quality |
| primary visual cortex | UBERON:0002436 | 80.71 | gold quality |
| brain | UBERON:0000955 | 79.87 | gold quality |
| central nervous system | UBERON:0001017 | 79.61 | gold quality |
| stromal cell of endometrium | CL:0002255 | 79.12 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 78.58 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 77.94 | gold quality |
| postcentral gyrus | UBERON:0002581 | 76.81 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-13 | yes | 8.45 |
| E-ANND-3 | no | 4.38 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): RELA, TP63
miRNA regulators (miRDB)
44 targeting RGS20, 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-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-636 | 99.80 | 69.58 | 1500 |
| HSA-MIR-204-5P | 99.79 | 71.62 | 2439 |
| HSA-MIR-211-5P | 99.79 | 71.65 | 2440 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
| HSA-MIR-548AJ-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548F-5P | 99.78 | 71.02 | 3093 |
| HSA-MIR-548G-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548X-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-2681-5P | 99.75 | 67.64 | 1655 |
| HSA-MIR-4530 | 99.69 | 66.47 | 1509 |
| HSA-MIR-10393-5P | 99.65 | 68.01 | 1368 |
| HSA-MIR-7159-5P | 99.53 | 72.12 | 2472 |
| HSA-MIR-766-3P | 99.47 | 65.24 | 1811 |
| HSA-MIR-365A-3P | 99.43 | 70.02 | 836 |
| HSA-MIR-365B-3P | 99.43 | 70.02 | 836 |
| HSA-MIR-4762-3P | 99.43 | 69.72 | 2363 |
| HSA-MIR-4666A-5P | 99.41 | 69.72 | 1887 |
| HSA-MIR-508-5P | 99.41 | 64.25 | 1248 |
| HSA-MIR-5697 | 99.39 | 67.74 | 1249 |
| HSA-MIR-4641 | 99.28 | 66.64 | 744 |
| HSA-MIR-4293 | 99.22 | 65.46 | 1263 |
Literature-anchored findings (GeneRIF, showing 8)
- provide new evidence that RGSZ1 interacts not only with Galpha(z,) but also with Galpha(i), as supported by in vitro binding assays and functional studies (PMID:12379657)
- 1H, 13C and 15N resonance assignments of human RGSZ1. (PMID:14872136)
- The major function of PKCI-1 is to modulate mu opioid receptor signaling pathway along with RGSZ1, rather than directly mediating the Galphaz RGSZ1 interaction. (PMID:17126529)
- These results suggest that the expression of RGS20 may promote metastasis of tumor cells. (PMID:27495875)
- Findings suggest that high regulator of G protein signaling 20 (RGS20) expression is associated with unfavorable survival in triple-negative breast cancer (TNBC). (PMID:28237701)
- Data suggest that Gpr176 (G-protein coupled receptor 176) is an SCN-(suprachiasmatic nucleus-)enriched orphan GPCR (G-protein-coupled receptor) that sets the pace of circadian behavior; a unique cAMP-repressing G-protein subclass Gz is required for the activity of Gpr176. [REVIEW] (PMID:28502923)
- NEAT1 silencing also inhibited tumor growth in vivo. Collectively, we revealed that the NEAT1/miR365/RGS20 axis may be a novel mechanism or therapeutic strategy for OSCC treatment. (PMID:29484420)
- RGS20 acted as an oncogene in bladder cancer. (PMID:31212130)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rgs20 | ENSDARG00000038859 |
| mus_musculus | Rgs20 | ENSMUSG00000002459 |
| rattus_norvegicus | Rgs20 | ENSRNOG00000008100 |
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), RGS10 (ENSG00000148908), RGS18 (ENSG00000150681), RGS12 (ENSG00000159788), AXIN2 (ENSG00000168646), RGS14 (ENSG00000169220), RGS19 (ENSG00000171700), RGS6 (ENSG00000182732), RGS7 (ENSG00000182901), RGS21 (ENSG00000253148)
Protein
Protein identifiers
Regulator of G-protein signaling 20 — O76081 (reviewed: O76081)
Alternative names: Gz-selective GTPase-activating protein, Regulator of G-protein signaling Z1, Regulator of Gz-selective protein signaling 1
All UniProt accessions (5): O76081, B3KSW4, E5RGA3, E5RH54, H9NIM5
UniProt curated annotations — full annotation on UniProt →
Function. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds selectively to G(z)-alpha and G(alpha)-i2 subunits, accelerates their GTPase activity and regulates their signaling activities. The G(z)-alpha activity is inhibited by the phosphorylation and palmitoylation of the G-protein. Negatively regulates mu-opioid receptor-mediated activation of the G-proteins.
Subunit / interactions. Forms a complex with G(alpha)z/i2 subunits and mu-opioid receptors; the formation of this complex results in mu-opioid receptor desensitization. Interacts with OPRM1.
Subcellular location. Membrane. Nucleus. Cytoplasm.
Tissue specificity. Isoform 5 is expressed in brain at high levels in the caudate nucleus and temporal lobe.
Post-translational modifications. Fatty acylated. Heavily palmitoylated in the cysteine string motif. N- and O-glycosylated in synapsomal membranes. Serine phosphorylated in synapsomal membranes. Sumoylated with SUMO1 and SUMO2 in synaptosomes. The sumoylated forms act as a scaffold for sequestering mu-opioid receptor-activated G(alpha) subunits.
Isoforms (6)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O76081-1 | 6 | yes |
| O76081-2 | 1 | |
| O76081-3 | 2 | |
| O76081-4 | 3 | |
| O76081-5 | 4 | |
| O76081-6 | 5 |
RefSeq proteins (5): NP_001273602, NP_001273603, NP_001273604, NP_003693, NP_733466 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR016137 | RGS | Domain |
| IPR036305 | RGS_sf | Homologous_superfamily |
| IPR044926 | RGS_subdomain_2 | Homologous_superfamily |
Pfam: PF00615
UniProt features (11 total): splice variant 7, chain 1, domain 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O76081-F1 | 62.78 | 0.36 |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-418594 | G alpha (i) signalling events |
| R-HSA-418597 | G alpha (z) signalling events |
MSigDB gene sets: 144 (showing top):
BENPORATH_ES_WITH_H3K27ME3, REACTOME_G_ALPHA_Z_SIGNALLING_EVENTS, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOCC_TRANS_GOLGI_NETWORK, ONKEN_UVEAL_MELANOMA_UP, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, BROWNE_HCMV_INFECTION_14HR_DN, MODULE_99, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_DN, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_UP, MILI_PSEUDOPODIA_CHEMOTAXIS_UP, RICKMAN_HEAD_AND_NECK_CANCER_C, chr8q11, GOCC_CYTOPLASMIC_SIDE_OF_MEMBRANE
GO Biological Process (3): G protein-coupled receptor signaling pathway (GO:0007186), regulation of G protein-coupled receptor signaling pathway (GO:0008277), negative regulation of signal transduction (GO:0009968)
GO Molecular Function (3): GTPase activity (GO:0003924), GTPase activator activity (GO:0005096), protein binding (GO:0005515)
GO Cellular Component (5): nucleus (GO:0005634), cytoplasm (GO:0005737), trans-Golgi network (GO:0005802), plasma membrane (GO:0005886), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| GPCR downstream signalling | 2 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| signal transduction | 2 |
| regulation of signal transduction | 2 |
| cellular anatomical structure | 2 |
| G protein-coupled receptor activity | 1 |
| G protein-coupled receptor signaling pathway | 1 |
| negative regulation of cell communication | 1 |
| negative regulation of signaling | 1 |
| negative regulation of response to stimulus | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| GTPase activity | 1 |
| enzyme activator activity | 1 |
| GTPase regulator activity | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| Golgi apparatus subcompartment | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
1430 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RGS20 | GNB5 | O14775 | 878 |
| RGS20 | SUCLG2 | Q96I99 | 853 |
| RGS20 | GNAQ | P50148 | 789 |
| RGS20 | ARHGEF1 | Q92888 | 788 |
| RGS20 | ARHGEF11 | O15085 | 785 |
| RGS20 | RGSL1 | A5PLK6 | 771 |
| RGS20 | GRK2 | P25098 | 769 |
| RGS20 | HINT1 | P49773 | 751 |
| RGS20 | RGS7BP | Q6MZT1 | 725 |
| RGS20 | SUCLG1 | P53597 | 721 |
| RGS20 | GNAZ | P19086 | 710 |
| RGS20 | GNA13 | Q14344 | 707 |
| RGS20 | MCF2 | P10911 | 706 |
| RGS20 | PLEK | P08567 | 688 |
| RGS20 | AKAP10 | O43572 | 662 |
IntAct
102 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GLRX3 | RGS20 | psi-mi:“MI:0915”(physical association) | 0.810 |
| RGS20 | GLRX3 | psi-mi:“MI:0915”(physical association) | 0.810 |
| RGS20 | GLRX3 | psi-mi:“MI:0914”(association) | 0.810 |
| IFT43 | TULP3 | psi-mi:“MI:0914”(association) | 0.790 |
| RGS20 | OTX1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| LCE1B | RGS20 | psi-mi:“MI:0915”(physical association) | 0.740 |
| OTX1 | RGS20 | psi-mi:“MI:0915”(physical association) | 0.740 |
| RGS20 | LCE1B | psi-mi:“MI:0915”(physical association) | 0.740 |
| RGS20 | HOXA1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| CATSPER1 | RGS20 | psi-mi:“MI:0915”(physical association) | 0.670 |
| RGS20 | CATSPER1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| HOXA1 | RGS20 | psi-mi:“MI:0915”(physical association) | 0.670 |
| HRG | PLSCR1 | psi-mi:“MI:0914”(association) | 0.590 |
| RGS20 | MTNR1A | psi-mi:“MI:0915”(physical association) | 0.580 |
| RGS20 | MTNR1A | psi-mi:“MI:2364”(proximity) | 0.580 |
| RGS20 | MTNR1A | psi-mi:“MI:0407”(direct interaction) | 0.580 |
| MTNR1A | RGS20 | psi-mi:“MI:0407”(direct interaction) | 0.580 |
BioGRID (172): RGS20 (Two-hybrid), RGS20 (Two-hybrid), RGS20 (Two-hybrid), RGS20 (Two-hybrid), RGS20 (Two-hybrid), RGS20 (Two-hybrid), RGS20 (Two-hybrid), RGS20 (Two-hybrid), RGS20 (Two-hybrid), CREB5 (Two-hybrid), GLRX3 (Two-hybrid), MAPKBP1 (Two-hybrid), PVRL3 (Two-hybrid), CRCT1 (Two-hybrid), KRTAP4-2 (Two-hybrid)
ESM2 similar proteins: A0A087WVF3, A0A087WXS9, A0A087X179, A0A087X1G2, A6NDS4, A6NER0, A6QPT6, B9A6J9, M3WHG5, O14771, O15482, O15553, O19110, O76081, P0C7X1, P0C7X3, P0C7X4, P35125, P48778, P48967, P79209, Q13670, Q15697, Q2TBC4, Q3T191, Q3UZD7, Q4R2Z8, Q5DRQ5, Q5SSQ6, Q5XFX8, Q69ZB3, Q6DHY5, Q6IPX1, Q6ZMN8, Q8BLR5, Q8BWA8, Q8IYF1, Q8IZP1, Q8JZW5, Q8N7G0
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
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 43 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Keratinization | 6 | 10.1× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
77 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 63 |
| Likely benign | 4 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1735 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:53954062:T:A | acceptor_gain | 1.0000 |
| 8:53954063:G:A | acceptor_gain | 1.0000 |
| 8:53954070:A:AG | acceptor_gain | 1.0000 |
| 8:53954070:AC:A | acceptor_gain | 1.0000 |
| 8:53954071:C:CA | acceptor_gain | 1.0000 |
| 8:53954071:C:G | acceptor_gain | 1.0000 |
| 8:53954074:A:AG | acceptor_gain | 1.0000 |
| 8:53954075:G:GA | acceptor_gain | 1.0000 |
| 8:53954075:GCCCT:G | acceptor_gain | 1.0000 |
| 8:53954233:G:GT | donor_gain | 1.0000 |
| 8:53954307:GGAG:G | donor_gain | 1.0000 |
| 8:53954308:GAGG:G | donor_gain | 1.0000 |
| 8:53954311:GTAT:G | donor_loss | 1.0000 |
| 8:53954312:T:G | donor_loss | 1.0000 |
| 8:53852061:CAAG:C | donor_loss | 0.9900 |
| 8:53852064:GGTAA:G | donor_loss | 0.9900 |
| 8:53852065:GTA:G | donor_loss | 0.9900 |
| 8:53852066:T:A | donor_loss | 0.9900 |
| 8:53898856:A:T | donor_gain | 0.9900 |
| 8:53939575:GCA:G | acceptor_gain | 0.9900 |
| 8:53939722:GTG:G | donor_gain | 0.9900 |
| 8:53946663:A:AG | acceptor_gain | 0.9900 |
| 8:53946664:G:GG | acceptor_gain | 0.9900 |
| 8:53954075:GC:G | acceptor_gain | 0.9900 |
| 8:53954075:GCC:G | acceptor_gain | 0.9900 |
| 8:53954075:GCCC:G | acceptor_gain | 0.9900 |
| 8:53958265:GACA:G | acceptor_loss | 0.9900 |
| 8:53958266:ACAG:A | acceptor_loss | 0.9900 |
| 8:53958267:CA:C | acceptor_loss | 0.9900 |
| 8:53958268:AGGTG:A | acceptor_loss | 0.9900 |
AlphaMissense
1593 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:53954167:T:C | F279L | 0.999 |
| 8:53954169:C:A | F279L | 0.999 |
| 8:53954169:C:G | F279L | 0.999 |
| 8:53954171:T:C | L280P | 0.999 |
| 8:53954182:T:C | F284L | 0.999 |
| 8:53954184:C:A | F284L | 0.999 |
| 8:53954184:C:G | F284L | 0.999 |
| 8:53954204:T:C | F291S | 0.999 |
| 8:53954225:T:C | L298P | 0.999 |
| 8:53958273:A:C | S328R | 0.999 |
| 8:53958275:C:A | S328R | 0.999 |
| 8:53958275:C:G | S328R | 0.999 |
| 8:53958367:T:C | L359P | 0.999 |
| 8:53958370:T:C | M360T | 0.999 |
| 8:53958379:A:C | D363A | 0.999 |
| 8:53958379:A:G | D363G | 0.999 |
| 8:53958379:A:T | D363V | 0.999 |
| 8:53958384:T:G | Y365D | 0.999 |
| 8:53954107:T:A | W259R | 0.998 |
| 8:53954107:T:C | W259R | 0.998 |
| 8:53954159:T:C | F276S | 0.998 |
| 8:53954168:T:C | F279S | 0.998 |
| 8:53954185:A:C | S285R | 0.998 |
| 8:53954187:T:A | S285R | 0.998 |
| 8:53954187:T:G | S285R | 0.998 |
| 8:53954196:T:A | N288K | 0.998 |
| 8:53954196:T:G | N288K | 0.998 |
| 8:53954203:T:C | F291L | 0.998 |
| 8:53954205:C:A | F291L | 0.998 |
| 8:53954205:C:G | F291L | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000000556 (8:53873016 G>A), RS1000003414 (8:53915883 A>G), RS1000006365 (8:53853341 A>G), RS1000017943 (8:53895792 C>T), RS1000059388 (8:53921933 T>C), RS1000189413 (8:53931991 A>T), RS1000214834 (8:53897759 T>A), RS1000273034 (8:53879049 C>T), RS1000360466 (8:53928158 A>G), RS1000362856 (8:53928575 A>G), RS1000429118 (8:53877318 G>A,C), RS1000452123 (8:53934531 A>G), RS1000476541 (8:53928524 TAAA>T), RS1000494352 (8:53896088 C>T), RS1000545855 (8:53896357 G>A)
Disease associations
OMIM: gene MIM:607193 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003255_6 | Urinary albumin-to-creatinine ratio | 6.000000e-07 |
| GCST005557_7 | Serum uric acid levels | 9.000000e-06 |
| GCST005714_4 | Cerebrospinal fluid beta-site APP cleaving enzyme levels | 8.000000e-06 |
| GCST010249_3 | Chronic obstructive pulmonary disease | 4.000000e-06 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007778 | urinary albumin to creatinine ratio |
| EFO:0004761 | uric acid measurement |
| EFO:0009179 | beta-secretase 1 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 — RZ family
CTD chemical–gene interactions
56 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases expression | 6 |
| Aflatoxin B1 | increases expression, affects expression | 4 |
| Cadmium | increases expression, decreases reaction, increases abundance, increases palmitoylation | 3 |
| Particulate Matter | increases abundance, increases expression, affects cotreatment | 3 |
| arsenite | increases methylation, affects binding, increases reaction | 2 |
| entinostat | decreases expression, affects cotreatment | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Silicon Dioxide | increases expression | 2 |
| Tetrachlorodibenzodioxin | increases expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| Tretinoin | decreases expression | 2 |
| Valproic Acid | decreases expression, decreases methylation | 2 |
| Cyclosporine | increases expression | 2 |
| Cadmium Chloride | decreases reaction, increases abundance, increases palmitoylation, increases expression | 2 |
| bisphenol A | decreases methylation | 1 |
| sodium arsenite | increases expression | 1 |
| 2-bromopalmitate | decreases reaction, increases abundance, increases palmitoylation | 1 |
| cupric chloride | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| isobutyl alcohol | affects cotreatment, increases abundance, increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression, increases expression | 1 |
| 2,2’,4,4’,5-brominated diphenyl ether | increases expression | 1 |
| beta-hydroxy simvastatin acid | decreases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression, increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Decitabine | affects expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): chronic obstructive pulmonary disease