GNG3
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Summary
GNG3 (G protein subunit gamma 3, HGNC:4405) is a protein-coding gene on chromosome 11q12.3, encoding Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-3 (P63215). Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems.
Guanine nucleotide binding proteins are heterotrimeric signal-transducing molecules consisting of alpha, beta, and gamma subunits. The gamma subunit determines the specificity of which signaling pathways will be affected by this particular complex. The protein encoded by this gene represents the gamma subunit of both inhibitory and stimulatory complexes.
Source: NCBI Gene 2785 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 4 total
- MANE Select transcript:
NM_012202
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4405 |
| Approved symbol | GNG3 |
| Name | G protein subunit gamma 3 |
| Location | 11q12.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000162188 |
| Ensembl biotype | protein_coding |
| OMIM | 608941 |
| Entrez | 2785 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 11 protein_coding
ENST00000294117, ENST00000850846, ENST00000854340, ENST00000854341, ENST00000854342, ENST00000912501, ENST00000951615, ENST00000951616, ENST00000951617, ENST00000951618, ENST00000951619
RefSeq mRNA: 1 — MANE Select: NM_012202
NM_012202
CCDS: CCDS8032
Canonical transcript exons
ENST00000294117 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001063210 | 62708295 | 62708394 |
| ENSE00001063212 | 62708678 | 62709201 |
| ENSE00001331002 | 62707676 | 62707915 |
Expression profiles
Bgee: expression breadth ubiquitous, 193 present calls, max score 99.41.
FANTOM5 (CAGE): breadth broad, TPM avg 31.9702 / max 1716.6144, expressed in 325 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 114727 | 31.8147 | 325 |
| 114728 | 0.1555 | 61 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right frontal lobe | UBERON:0002810 | 99.41 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 99.19 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 99.10 | gold quality |
| cerebellar cortex | UBERON:0002129 | 99.08 | gold quality |
| prefrontal cortex | UBERON:0000451 | 99.03 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 99.03 | gold quality |
| frontal cortex | UBERON:0001870 | 98.84 | gold quality |
| frontal lobe | UBERON:0016525 | 98.84 | gold quality |
| cingulate cortex | UBERON:0003027 | 98.80 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 98.80 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 98.76 | gold quality |
| cerebellum | UBERON:0002037 | 98.72 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 98.59 | gold quality |
| neocortex | UBERON:0001950 | 98.54 | gold quality |
| amygdala | UBERON:0001876 | 98.52 | gold quality |
| ganglionic eminence | UBERON:0004023 | 98.36 | gold quality |
| nucleus accumbens | UBERON:0001882 | 98.31 | gold quality |
| cerebral cortex | UBERON:0000956 | 98.14 | gold quality |
| caudate nucleus | UBERON:0001873 | 98.14 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 98.14 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 98.04 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 97.97 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 97.89 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 97.81 | gold quality |
| telencephalon | UBERON:0001893 | 97.78 | gold quality |
| temporal lobe | UBERON:0001871 | 97.66 | gold quality |
| hypothalamus | UBERON:0001898 | 97.56 | gold quality |
| putamen | UBERON:0001874 | 97.47 | gold quality |
| Ammon’s horn | UBERON:0001954 | 97.35 | gold quality |
| parietal lobe | UBERON:0001872 | 97.28 | gold quality |
Single-cell (SCXA)
Detected in 7 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7316 | yes | 1360.89 |
| E-MTAB-6911 | yes | 560.00 |
| E-HCAD-5 | yes | 14.56 |
| E-GEOD-93593 | yes | 12.31 |
| E-HCAD-10 | yes | 4.66 |
| E-MTAB-9154 | no | 1163.89 |
| E-ANND-3 | no | 0.86 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): MAX, MYB, TBX4
miRNA regulators (miRDB)
26 targeting GNG3, 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-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-6744-5P | 99.93 | 66.82 | 748 |
| HSA-MIR-1321 | 99.84 | 65.30 | 1811 |
| HSA-MIR-4739 | 99.84 | 65.25 | 1832 |
| HSA-MIR-4756-5P | 99.84 | 64.98 | 1809 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-636 | 99.80 | 69.58 | 1500 |
| HSA-MIR-11181-3P | 99.75 | 66.38 | 2205 |
| HSA-MIR-6892-3P | 99.68 | 66.40 | 1178 |
| HSA-MIR-5003-5P | 99.61 | 69.13 | 1624 |
| HSA-MIR-136-5P | 99.50 | 67.26 | 1153 |
| HSA-MIR-4717-3P | 99.06 | 66.34 | 1072 |
| HSA-MIR-330-5P | 98.73 | 67.63 | 1788 |
| HSA-MIR-7155-5P | 98.65 | 66.14 | 1290 |
| HSA-MIR-6873-5P | 98.45 | 66.14 | 1417 |
| HSA-MIR-4664-5P | 98.17 | 65.07 | 1020 |
| HSA-MIR-615-5P | 98.10 | 63.76 | 591 |
| HSA-MIR-6757-5P | 98.08 | 65.50 | 724 |
| HSA-MIR-3977 | 98.00 | 68.17 | 1500 |
| HSA-MIR-2467-5P | 97.36 | 67.71 | 991 |
| HSA-MIR-342-5P | 97.25 | 64.10 | 817 |
| HSA-MIR-125A-3P | 97.04 | 66.92 | 902 |
| HSA-MIR-873-3P | 96.84 | 66.09 | 786 |
| HSA-MIR-7160-3P | 96.40 | 64.15 | 462 |
| HSA-MIR-7704 | 95.30 | 62.35 | 115 |
Literature-anchored findings (GeneRIF, showing 2)
- Golgi structure and secretion is regulated by receptor-induced G protein betagamma complex translocation (PMID:20534534)
- Findings suggest a wide-ranging mechanism by which direct interaction of Gbetagamma with specific chromatin bound transcription factors regulates functional gene networks in response to GPCR activation in cells including the angiotensin II type 1 receptor. (PMID:23326349)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gng3 | ENSDARG00000009553 |
| mus_musculus | Gng3 | ENSMUSG00000071658 |
| rattus_norvegicus | Gng3 | ENSRNOG00000019570 |
Paralogs (11): GNG11 (ENSG00000127920), GNGT1 (ENSG00000127928), GNG5B (ENSG00000133136), GNGT2 (ENSG00000167083), GNG8 (ENSG00000167414), GNG4 (ENSG00000168243), GNG12 (ENSG00000172380), GNG5 (ENSG00000174021), GNG7 (ENSG00000176533), GNG2 (ENSG00000186469), GNG10 (ENSG00000242616)
Protein
Protein identifiers
Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-3 — P63215 (reviewed: P63215)
All UniProt accessions (1): P63215
UniProt curated annotations — full annotation on UniProt →
Function. Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.
Subunit / interactions. G proteins are composed of 3 units, alpha, beta and gamma. Forms a complex with GNAO1 and GNB1. Interacts with SCN8A.
Subcellular location. Cell membrane.
Similarity. Belongs to the G protein gamma family.
RefSeq proteins (1): NP_036334* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001770 | G-protein_gamma | Family |
| IPR015898 | G-protein_gamma-like_dom | Domain |
| IPR036284 | GGL_sf | Homologous_superfamily |
Pfam: PF00631
UniProt features (8 total): modified residue 5, chain 1, propeptide 1, lipid moiety-binding region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P63215-F1 | 85.44 | 0.56 |
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 (6): 5, 9, 10, 12, 72, 72
Function
Pathways and Gene Ontology
Reactome pathways
29 pathways
| ID | Pathway |
|---|---|
| R-HSA-1296041 | Activation of G protein gated Potassium channels |
| R-HSA-163359 | Glucagon signaling in metabolic regulation |
| R-HSA-202040 | G-protein activation |
| R-HSA-381676 | Glucagon-like Peptide-1 (GLP1) regulates insulin secretion |
| R-HSA-392170 | ADP signalling through P2Y purinoceptor 12 |
| R-HSA-392451 | G beta:gamma signalling through PI3Kgamma |
| R-HSA-392851 | Prostacyclin signalling through prostacyclin receptor |
| R-HSA-400042 | Adrenaline,noradrenaline inhibits insulin secretion |
| R-HSA-4086398 | Ca2+ pathway |
| R-HSA-416476 | G alpha (q) signalling events |
| R-HSA-416482 | G alpha (12/13) signalling events |
| R-HSA-418217 | G beta:gamma signalling through PLC beta |
| R-HSA-418555 | G alpha (s) signalling events |
| R-HSA-418592 | ADP signalling through P2Y purinoceptor 1 |
| R-HSA-418594 | G alpha (i) signalling events |
| R-HSA-418597 | G alpha (z) signalling events |
| R-HSA-420092 | Glucagon-type ligand receptors |
| R-HSA-428930 | Thromboxane signalling through TP receptor |
| R-HSA-432040 | Vasopressin regulates renal water homeostasis via Aquaporins |
| R-HSA-456926 | Thrombin signalling through proteinase activated receptors (PARs) |
| R-HSA-500657 | Presynaptic function of Kainate receptors |
| R-HSA-6814122 | Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding |
| R-HSA-8964315 | G beta:gamma signalling through BTK |
| R-HSA-8964616 | G beta:gamma signalling through CDC42 |
| R-HSA-9009391 | Extra-nuclear estrogen signaling |
| R-HSA-9634597 | GPER1 signaling |
| R-HSA-9660821 | ADORA2B mediated anti-inflammatory cytokines production |
| R-HSA-9856530 | High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells |
| R-HSA-997272 | Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits |
MSigDB gene sets: 187 (showing top):
REACTOME_GLUCAGON_TYPE_LIGAND_RECEPTORS, XU_GH1_AUTOCRINE_TARGETS_UP, REACTOME_ADRENALINE_NORADRENALINE_INHIBITS_INSULIN_SECRETION, REACTOME_POTASSIUM_CHANNELS, REACTOME_INWARDLY_RECTIFYING_K_CHANNELS, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, REACTOME_G_ALPHA_Z_SIGNALLING_EVENTS, AP4_Q6, REACTOME_GLUCAGON_SIGNALING_IN_METABOLIC_REGULATION, AATGGAG_MIR136, CAGCTG_AP4_Q5, REACTOME_G_PROTEIN_ACTIVATION, TGACATY_UNKNOWN, REACTOME_G_BETA_GAMMA_SIGNALLING_THROUGH_PI3KGAMMA, REACTOME_G_PROTEIN_BETA_GAMMA_SIGNALLING
GO Biological Process (3): G protein-coupled receptor signaling pathway (GO:0007186), positive regulation of cytosolic calcium ion concentration (GO:0007204), signal transduction (GO:0007165)
GO Molecular Function (3): GTPase activity (GO:0003924), G-protein beta-subunit binding (GO:0031681), protein binding (GO:0005515)
GO Cellular Component (7): heterotrimeric G-protein complex (GO:0005834), plasma membrane (GO:0005886), postsynaptic density (GO:0014069), dendrite (GO:0030425), cell body (GO:0044297), membrane (GO:0016020), synapse (GO:0045202)
Reactome top-level categories
Rollup of top-12 pathways:
| Category | Pathways |
|---|---|
| GPCR downstream signalling | 5 |
| Signal amplification | 3 |
| Regulation of insulin secretion | 2 |
| G-protein beta:gamma signalling | 2 |
| G protein gated Potassium channels | 1 |
| Integration of energy metabolism | 1 |
| Opioid Signalling | 1 |
| Platelet homeostasis | 1 |
| Beta-catenin independent WNT signaling | 1 |
| Class B/2 (Secretin family receptors) | 1 |
| Aquaporin-mediated transport | 1 |
| Platelet activation, signaling and aggregation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| G protein-coupled receptor activity | 1 |
| signal transduction | 1 |
| regulation of biological quality | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| protein binding | 1 |
| binding | 1 |
| extrinsic component of cytoplasmic side of plasma membrane | 1 |
| plasma membrane protein complex | 1 |
| GTPase complex | 1 |
| membrane | 1 |
| cell periphery | 1 |
| asymmetric synapse | 1 |
| postsynaptic specialization | 1 |
| neuron projection | 1 |
| dendritic tree | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
34 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GNG3 | GNB1 | psi-mi:“MI:0914”(association) | 0.640 |
| GNG3 | GNAI1 | psi-mi:“MI:0914”(association) | 0.640 |
| SS18L2 | GNG3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GNG3 | NTAQ1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GNG3 | TRIM74 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GNG3 | SS18L2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GNG3 | GNB5 | psi-mi:“MI:0914”(association) | 0.500 |
| GNG3 | GNB5 | psi-mi:“MI:0915”(physical association) | 0.500 |
| SNAP23 | GNG3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| GNG3 | GNB2 | psi-mi:“MI:0914”(association) | 0.350 |
| GNG3 | GNB3 | psi-mi:“MI:0914”(association) | 0.350 |
| GNG3 | Ntsr1 | psi-mi:“MI:0914”(association) | 0.350 |
| GNG3 | GNAI2 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| GNG3 | GNAS | psi-mi:“MI:0914”(association) | 0.350 |
| GNG3 | GNAI3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| NTAQ1 | GNG3 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (42): GNAT2 (Affinity Capture-MS), GNAQ (Affinity Capture-MS), GNAO1 (Affinity Capture-MS), GNA13 (Affinity Capture-MS), GNB4 (Affinity Capture-MS), GNAZ (Affinity Capture-MS), GNA11 (Affinity Capture-MS), FLNC (Affinity Capture-MS), GNB1 (Affinity Capture-MS), GNAI2 (Affinity Capture-MS), GNAI1 (Affinity Capture-MS), PDCL (Affinity Capture-MS), GNG3 (Two-hybrid), GNG3 (Two-hybrid), TRIM73 (Two-hybrid)
ESM2 similar proteins: A0A804HLA8, O14610, O60262, O97564, P02698, P30671, P38040, P43425, P50150, P50151, P50153, P50154, P54406, P59768, P61952, P61953, P61954, P63077, P63078, P63210, P63211, P63212, P63213, P63214, P63215, P63216, P63217, P63218, P63219, Q28024, Q4VT26, Q5E9F0, Q5R639, Q5R7U4, Q5RBQ0, Q5REH7, Q61012, Q61016, Q61017, Q6CPB4
Diamond homologs: A0A1W2PPG7, O60262, P30671, P43425, P50150, P50153, P59768, P63212, P63213, P63214, P63215, P63216, Q28024, Q5R639, Q5R7U4, Q5RBQ0, Q61016, Q9DAS9, Q9UBI6, A0A804HLA8, P38040, P50151, P63077, P63078, P63217, P63218, P63219, Q4VT26, Q5REH7, Q80SZ7, Q9CXP8, Q9UK08, O14610, O97564, P02698, P50154, P54406, P61952, P61953, P61954
SIGNOR signaling
7 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| GNG3 | up-regulates | PIK3CA | binding |
| SMO | up-regulates | GNG3 | binding |
| GNG3 | up-regulates | PLCG1 | binding |
| GNG3 | up-regulates | PI3K | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 15 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 |
|---|---|---|---|
| ADP signalling through P2Y purinoceptor 12 | 7 | 316.0× | 3e-16 |
| Prostacyclin signalling through prostacyclin receptor | 5 | 273.2× | 3e-11 |
| Adrenaline,noradrenaline inhibits insulin secretion | 6 | 214.8× | 9e-13 |
| ADORA2B mediated anti-inflammatory cytokines production | 8 | 184.6× | 2e-16 |
| GPER1 signaling | 8 | 180.6× | 2e-16 |
| G alpha (z) signalling events | 8 | 169.5× | 3e-16 |
| Glucagon-type ligand receptors | 5 | 157.3× | 5e-10 |
| Glucagon-like Peptide-1 (GLP1) regulates insulin secretion | 5 | 120.7× | 2e-09 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| G protein-coupled receptor signaling pathway | 7 | 19.5× | 3e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
4 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 3 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
484 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:62708290:TCCA:T | acceptor_loss | 1.0000 |
| 11:62708293:A:AC | acceptor_loss | 1.0000 |
| 11:62708293:A:AG | acceptor_gain | 1.0000 |
| 11:62708293:AG:A | acceptor_gain | 1.0000 |
| 11:62708293:AGGAT:A | acceptor_gain | 1.0000 |
| 11:62708294:G:GT | acceptor_gain | 1.0000 |
| 11:62708294:GG:G | acceptor_gain | 1.0000 |
| 11:62708294:GGA:G | acceptor_gain | 1.0000 |
| 11:62708294:GGAT:G | acceptor_gain | 1.0000 |
| 11:62708294:GGATG:G | acceptor_gain | 1.0000 |
| 11:62708393:AGGTA:A | donor_loss | 1.0000 |
| 11:62708395:G:GA | donor_loss | 1.0000 |
| 11:62708396:T:G | donor_loss | 1.0000 |
| 11:62708674:CCAG:C | acceptor_loss | 1.0000 |
| 11:62708675:CAG:C | acceptor_loss | 1.0000 |
| 11:62708676:A:AT | acceptor_loss | 1.0000 |
| 11:62707110:T:TA | donor_gain | 0.9900 |
| 11:62707323:CC:C | acceptor_gain | 0.9900 |
| 11:62707324:CC:C | acceptor_gain | 0.9900 |
| 11:62707325:C:CA | acceptor_loss | 0.9900 |
| 11:62708395:G:GG | donor_gain | 0.9900 |
| 11:62708664:T:TA | acceptor_gain | 0.9900 |
| 11:62708668:T:A | acceptor_gain | 0.9900 |
| 11:62708670:T:TA | acceptor_gain | 0.9900 |
| 11:62708676:A:AG | acceptor_gain | 0.9900 |
| 11:62708677:G:GG | acceptor_gain | 0.9900 |
| 11:62708677:GGT:G | acceptor_gain | 0.9900 |
| 11:62707325:C:CC | acceptor_gain | 0.9800 |
| 11:62708393:AG:A | donor_gain | 0.9800 |
| 11:62708393:AGGT:A | donor_gain | 0.9800 |
AlphaMissense
496 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:62708700:T:C | L41P | 0.999 |
| 11:62708771:T:C | F65L | 0.999 |
| 11:62708773:C:A | F65L | 0.999 |
| 11:62708773:C:G | F65L | 0.999 |
| 11:62708363:T:C | L23P | 0.998 |
| 11:62708767:C:A | N63K | 0.998 |
| 11:62708767:C:G | N63K | 0.998 |
| 11:62708772:T:C | F65S | 0.998 |
| 11:62708733:A:C | D52A | 0.997 |
| 11:62708771:T:A | F65I | 0.997 |
| 11:62708690:G:C | A38P | 0.996 |
| 11:62708732:G:C | D52H | 0.996 |
| 11:62708733:A:G | D52G | 0.996 |
| 11:62708733:A:T | D52V | 0.996 |
| 11:62708734:T:A | D52E | 0.996 |
| 11:62708734:T:G | D52E | 0.996 |
| 11:62708739:T:C | L54P | 0.996 |
| 11:62708765:A:G | N63D | 0.996 |
| 11:62708768:C:T | P64S | 0.996 |
| 11:62708771:T:G | F65V | 0.996 |
| 11:62708772:T:G | F65C | 0.996 |
| 11:62708363:T:A | L23H | 0.995 |
| 11:62708700:T:A | L41Q | 0.994 |
| 11:62708712:G:A | C45Y | 0.994 |
| 11:62708713:T:G | C45W | 0.994 |
| 11:62708374:G:C | A27P | 0.993 |
| 11:62708687:G:C | A37P | 0.993 |
| 11:62708700:T:G | L41R | 0.993 |
| 11:62708739:T:A | L54H | 0.993 |
| 11:62708691:C:A | A38E | 0.992 |
dbSNP variants (sampled 300 via entrez): RS1000220072 (11:62708143 G>A,C,T), RS1001126910 (11:62706647 G>A,C), RS1001313790 (11:62706416 T>C), RS1001519786 (11:62705100 G>A), RS1002061006 (11:62707688 T>A), RS1002299839 (11:62707070 C>A), RS1002675363 (11:62707436 C>T), RS1003017678 (11:62706540 C>G,T), RS1003456487 (11:62706400 G>A,T), RS1004059732 (11:62704539 C>A), RS1004291196 (11:62709129 TCTTG>T), RS1005060866 (11:62706136 C>A), RS1005305189 (11:62707625 A>G), RS1005336475 (11:62707281 C>T), RS1006050346 (11:62707504 G>A)
Disease associations
OMIM: gene MIM:608941 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): monogenic diabetes (MONDO:0015967)
Orphanet (1): Rare genetic diabetes mellitus (Orphanet:183625)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005956_12 | Waist-to-hip ratio adjusted for BMI | 2.000000e-06 |
| GCST005956_2 | Waist-to-hip ratio adjusted for BMI | 1.000000e-08 |
| GCST005962_37 | Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) | 5.000000e-07 |
| GCST005962_51 | Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) | 1.000000e-07 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
9 total (human), top 9 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 3 |
| decabromobiphenyl ether | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Barium | affects binding, decreases reaction, increases transport | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | decreases expression, affects cotreatment | 1 |
| Dimethyl Sulfoxide | affects expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
Clinical trials (associated diseases)
9 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT06976658 | PHASE2 | RECRUITING | Glucokinase Activator in Monogenic Diabetes |
| NCT01795144 | PHASE1 | COMPLETED | Incretin Regulation of Insulin Secretion in Monogenic Diabetes |
| NCT04409795 | PHASE2/PHASE3 | COMPLETED | Oral Hypoglycemic Therapy for Monogenic Variant Carriers of the Joslin Medalist Study |
| NCT03988764 | Not specified | RECRUITING | Monogenic Diabetes Misdiagnosed as Type 1 |
| NCT05586594 | Not specified | NOT_YET_RECRUITING | Identifying Maturity-onset Diabetes of the Young in Emirati Patients |
| NCT06478121 | Not specified | RECRUITING | Understanding Beta Cell Disorders Through the Study of Rare Genotypes (ENDURE) |
| NCT06746610 | Not specified | RECRUITING | Screening and Molecular Diagnosis-based Individualized Precision Management of Monogenic Diabetes |
| NCT07492004 | Not specified | RECRUITING | China Monogenic Diabetes Registry |
| NCT07564518 | Not specified | NOT_YET_RECRUITING | Application of FreeStyle Libre 2 for Evaluating Glycemic Variability Characteristics in Patients With Extreme Glucose Metabolism Phenotypes |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): monogenic diabetes