GNG4
gene geneOn this page
Summary
GNG4 (G protein subunit gamma 4, HGNC:4407) is a protein-coding gene on chromosome 1q42.3, encoding Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-4 (P50150). Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems.
Predicted to enable G-protein beta-subunit binding activity. Involved in negative regulation of cell growth. Located in extracellular exosome.
Source: NCBI Gene 2786 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 15 total
- MANE Select transcript:
NM_001098722
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4407 |
| Approved symbol | GNG4 |
| Name | G protein subunit gamma 4 |
| Location | 1q42.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000168243 |
| Ensembl biotype | protein_coding |
| OMIM | 604388 |
| Entrez | 2786 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 11 protein_coding
ENST00000366597, ENST00000366598, ENST00000391854, ENST00000450593, ENST00000484517, ENST00000901785, ENST00000901786, ENST00000937073, ENST00000937074, ENST00000961844, ENST00000961845
RefSeq mRNA: 3 — MANE Select: NM_001098722
NM_001098721, NM_001098722, NM_004485
CCDS: CCDS1607
Canonical transcript exons
ENST00000391854 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001509898 | 235595400 | 235595511 |
| ENSE00001509899 | 235649662 | 235649784 |
| ENSE00003848164 | 235547685 | 235552237 |
| ENSE00003892798 | 235583740 | 235583848 |
Expression profiles
Bgee: expression breadth ubiquitous, 125 present calls, max score 97.99.
FANTOM5 (CAGE): breadth broad, TPM avg 7.3705 / max 431.7931, expressed in 748 samples.
FANTOM5 promoters (13 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 18147 | 4.3610 | 603 |
| 18151 | 0.9818 | 352 |
| 18152 | 0.6053 | 296 |
| 18154 | 0.4111 | 209 |
| 18150 | 0.2491 | 131 |
| 18144 | 0.2059 | 103 |
| 18149 | 0.1310 | 67 |
| 18148 | 0.0983 | 56 |
| 18146 | 0.0946 | 47 |
| 18153 | 0.0882 | 52 |
Top tissues by expression
131 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ganglionic eminence | UBERON:0004023 | 97.99 | gold quality |
| islet of Langerhans | UBERON:0000006 | 96.12 | gold quality |
| cortical plate | UBERON:0005343 | 93.90 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 91.93 | gold quality |
| ventricular zone | UBERON:0003053 | 91.83 | gold quality |
| hypothalamus | UBERON:0001898 | 90.42 | gold quality |
| temporal lobe | UBERON:0001871 | 88.54 | gold quality |
| amygdala | UBERON:0001876 | 88.54 | gold quality |
| left ovary | UBERON:0002119 | 88.28 | gold quality |
| ovary | UBERON:0000992 | 87.93 | gold quality |
| pituitary gland | UBERON:0000007 | 87.15 | gold quality |
| caudate nucleus | UBERON:0001873 | 86.86 | gold quality |
| nucleus accumbens | UBERON:0001882 | 86.80 | gold quality |
| prefrontal cortex | UBERON:0000451 | 86.64 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 86.42 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 85.90 | gold quality |
| adenohypophysis | UBERON:0002196 | 85.46 | gold quality |
| frontal cortex | UBERON:0001870 | 84.78 | gold quality |
| brain | UBERON:0000955 | 84.77 | gold quality |
| cerebral cortex | UBERON:0000956 | 84.20 | gold quality |
| right ovary | UBERON:0002118 | 84.08 | gold quality |
| putamen | UBERON:0001874 | 83.90 | gold quality |
| Ammon’s horn | UBERON:0001954 | 83.44 | gold quality |
| right frontal lobe | UBERON:0002810 | 82.21 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 82.21 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 81.65 | gold quality |
| cerebellum | UBERON:0002037 | 81.59 | gold quality |
| cerebellar cortex | UBERON:0002129 | 81.54 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 81.46 | gold quality |
| prostate gland | UBERON:0002367 | 80.98 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-5061 | yes | 25.71 |
| E-GEOD-81547 | yes | 19.43 |
| E-ANND-3 | no | 1.41 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
142 targeting GNG4, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-12121 | 99.99 | 66.64 | 255 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-6793-5P | 99.97 | 65.95 | 758 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-3941 | 99.86 | 70.54 | 2735 |
Literature-anchored findings (GeneRIF, showing 5)
- Common genetic variation in GNG4 and KCNQ2 was associated with cognitive decline. In human brain tissue data sets, both GNG4 and KCNQ2 show higher expression in hippocampus relative to other brain regions. (PMID:29338302)
- G-protein subunit gamma-4 expression has potential for detection, prediction and therapeutic targeting in liver metastasis of gastric cancer. (PMID:33854208)
- Identifying GNG4 might play an important role in colorectal cancer TMB. (PMID:34275892)
- G-Protein Subunit Gamma 4 as a Potential Biomarker for Predicting the Response of Chemotherapy and Immunotherapy in Bladder Cancer. (PMID:35456499)
- GNG4, as a potential predictor of prognosis, is correlated with immune infiltrates in colon adenocarcinoma. (PMID:37448185)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | GNG4 | ENSDARG00000111259 |
| mus_musculus | Gng4 | ENSMUSG00000021303 |
| rattus_norvegicus | Gng4 | ENSRNOG00000068923 |
Paralogs (11): GNG11 (ENSG00000127920), GNGT1 (ENSG00000127928), GNG5B (ENSG00000133136), GNG3 (ENSG00000162188), GNGT2 (ENSG00000167083), GNG8 (ENSG00000167414), 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-4 — P50150 (reviewed: P50150)
All UniProt accessions (2): B1APZ0, P50150
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. Interacts with beta-1 and beta-2, but not with beta-3. Interacts with KCNK1. Interacts (via C-terminus) with KCNK2/TREK-1 (via N-terminus); this interaction confers ion selectivity to Cl(-) and L-glutamate.
Subcellular location. Cell membrane.
Tissue specificity. Brain, kidney, pancreas, skeletal muscle and faintly in cardiac muscle.
Similarity. Belongs to the G protein gamma family.
RefSeq proteins (3): NP_001092191, NP_001092192, NP_004476 (=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 (4 total): chain 1, propeptide 1, modified residue 1, lipid moiety-binding region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P50150-F1 | 87.79 | 0.65 |
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 (2): 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: 279 (showing top):
CREL_01, REACTOME_GLUCAGON_TYPE_LIGAND_RECEPTORS, MORF_MSH3, 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, GOBP_NEGATIVE_REGULATION_OF_CELL_GROWTH, MORF_BRCA1, GOBP_GROWTH, CREBP1_Q2, REACTOME_GLUCAGON_SIGNALING_IN_METABOLIC_REGULATION, MORF_RAD51L3, MODULE_66
GO Biological Process (4): G protein-coupled receptor signaling pathway (GO:0007186), regulation of G protein-coupled receptor signaling pathway (GO:0008277), negative regulation of cell growth (GO:0030308), signal transduction (GO:0007165)
GO Molecular Function (2): G-protein beta-subunit binding (GO:0031681), protein binding (GO:0005515)
GO Cellular Component (5): heterotrimeric G-protein complex (GO:0005834), plasma membrane (GO:0005886), synapse (GO:0045202), extracellular exosome (GO:0070062), membrane (GO:0016020)
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 |
|---|---|
| G protein-coupled receptor activity | 1 |
| signal transduction | 1 |
| G protein-coupled receptor signaling pathway | 1 |
| regulation of signal transduction | 1 |
| regulation of cell growth | 1 |
| cell growth | 1 |
| negative regulation of growth | 1 |
| negative regulation of cellular process | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 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 |
| cell junction | 1 |
| extracellular vesicle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1482 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GNG4 | GNG11 | P50152 | 971 |
| GNG4 | GNGT2 | O14610 | 876 |
| GNG4 | GNGT1 | P63211 | 846 |
| GNG4 | GNB4 | Q9HAV0 | 834 |
| GNG4 | PLCB2 | Q00722 | 750 |
| GNG4 | GNB3 | P16520 | 720 |
| GNG4 | GNG13 | Q9P2W3 | 716 |
| GNG4 | GNB1 | P04697 | 693 |
| GNG4 | GNB5 | O14775 | 628 |
| GNG4 | GNAO1 | P09471 | 581 |
| GNG4 | INSL5 | Q9Y5Q6 | 550 |
| GNG4 | PENK | P01210 | 524 |
| GNG4 | CCL19 | Q99731 | 511 |
| GNG4 | GRIK2 | Q13002 | 492 |
| GNG4 | PLCB3 | Q01970 | 488 |
IntAct
150 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GNG4 | GNAI1 | psi-mi:“MI:0914”(association) | 0.640 |
| Kcnk2 | GNG4 | psi-mi:“MI:0915”(physical association) | 0.580 |
| GNG4 | Kcnk2 | psi-mi:“MI:0915”(physical association) | 0.580 |
| GNG4 | FHL2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GNG4 | GNB1 | psi-mi:“MI:0914”(association) | 0.530 |
| GNG4 | GNB5 | psi-mi:“MI:0914”(association) | 0.500 |
| GNG4 | GNB5 | psi-mi:“MI:0915”(physical association) | 0.500 |
| ARHGEF12 | GNG4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GNG4 | MAST2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GNG4 | HTRA1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GNG4 | PDZD7 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GNG4 | PDZK1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GNG4 | ARHGEF11 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GNG4 | SCRIB | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GNG4 | TAX1BP3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GNG4 | RADIL | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GNG4 | SHANK1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GNG4 | MAST1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GNG4 | GOPC | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GNG4 | SNX27 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GNG4 | TAMALIN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GNG4 | LNX1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GRID2IP | GNG4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GNG4 | GORASP1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GORASP2 | GNG4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GNG4 | PARD3B | psi-mi:“MI:0407”(direct interaction) | 0.440 |
BioGRID (50): TFIP11 (Two-hybrid), USHBP1 (Two-hybrid), GNG4 (Affinity Capture-MS), GNG4 (Affinity Capture-MS), GNG4 (Affinity Capture-MS), GNG4 (Affinity Capture-MS), GNAI3 (Affinity Capture-MS), GNAI1 (Affinity Capture-MS), GNAS (Affinity Capture-MS), GNAI2 (Affinity Capture-MS), GNB4 (Affinity Capture-MS), MOSPD2 (Affinity Capture-MS), GNAQ (Affinity Capture-MS), PDCL (Affinity Capture-MS), GNB1 (Affinity Capture-MS)
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
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 93 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 |
|---|---|---|---|
| Prostacyclin signalling through prostacyclin receptor | 5 | 48.5× | 1e-06 |
| ADP signalling through P2Y purinoceptor 12 | 6 | 48.0× | 1e-07 |
| Ras activation upon Ca2+ influx through NMDA receptor | 5 | 46.0× | 2e-06 |
| Unblocking of NMDA receptors, glutamate binding and activation | 5 | 43.9× | 2e-06 |
| Negative regulation of NMDA receptor-mediated neuronal transmission | 5 | 43.9× | 2e-06 |
| Long-term potentiation | 5 | 38.4× | 3e-06 |
| Adrenaline,noradrenaline inhibits insulin secretion | 6 | 38.1× | 3e-07 |
| Assembly and cell surface presentation of NMDA receptors | 9 | 36.8× | 2e-10 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| establishment or maintenance of epithelial cell apical/basal polarity | 10 | 66.0× | 9e-14 |
| protein localization to synapse | 6 | 52.2× | 2e-07 |
| receptor clustering | 7 | 49.6× | 2e-08 |
| regulation of postsynaptic membrane neurotransmitter receptor levels | 6 | 33.8× | 2e-06 |
| cell-cell adhesion | 10 | 11.5× | 2e-06 |
| protein-containing complex assembly | 8 | 10.3× | 7e-05 |
| regulation of small GTPase mediated signal transduction | 5 | 8.2× | 8e-03 |
| chemical synaptic transmission | 7 | 6.2× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
15 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 9 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1578 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:235552132:T:TA | donor_gain | 1.0000 |
| 1:235549547:G:C | acceptor_gain | 0.9900 |
| 1:235552135:T:TA | donor_gain | 0.9900 |
| 1:235583734:GCTTA:G | donor_loss | 0.9900 |
| 1:235583735:CTTA:C | donor_loss | 0.9900 |
| 1:235583736:TTA:T | donor_loss | 0.9900 |
| 1:235583737:TA:T | donor_loss | 0.9900 |
| 1:235583738:A:AG | donor_loss | 0.9900 |
| 1:235583739:C:CA | donor_loss | 0.9900 |
| 1:235595394:CCTTA:C | donor_loss | 0.9900 |
| 1:235595395:CTTAC:C | donor_loss | 0.9900 |
| 1:235595396:TTAC:T | donor_loss | 0.9900 |
| 1:235595397:TAC:T | donor_loss | 0.9900 |
| 1:235595398:ACCT:A | donor_loss | 0.9900 |
| 1:235595399:CCTG:C | donor_gain | 0.9900 |
| 1:235595509:CAC:C | acceptor_gain | 0.9900 |
| 1:235649657:CTTA:C | donor_loss | 0.9900 |
| 1:235649658:TTA:T | donor_loss | 0.9900 |
| 1:235649659:TA:T | donor_loss | 0.9900 |
| 1:235649660:AC:A | donor_gain | 0.9900 |
| 1:235649661:C:A | donor_loss | 0.9900 |
| 1:235649661:CC:C | donor_gain | 0.9900 |
| 1:235583846:CCC:C | acceptor_gain | 0.9800 |
| 1:235583847:CC:C | acceptor_gain | 0.9800 |
| 1:235583847:CCC:C | acceptor_gain | 0.9800 |
| 1:235583848:CC:C | acceptor_gain | 0.9800 |
| 1:235583849:C:CC | acceptor_gain | 0.9800 |
| 1:235583850:T:C | acceptor_loss | 0.9800 |
| 1:235595510:ACCTG:A | acceptor_loss | 0.9800 |
| 1:235595512:C:G | acceptor_loss | 0.9800 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000017347 (1:235593872 G>A), RS1000033319 (1:235563622 T>C,G), RS1000055573 (1:235598993 C>T), RS1000069639 (1:235637316 A>G), RS1000085373 (1:235563404 A>C), RS1000105103 (1:235551556 CAACAAA>C), RS1000115497 (1:235589316 CAGAGAG>C,CAG), RS1000142433 (1:235625361 G>A), RS1000224684 (1:235583986 C>T), RS1000231857 (1:235642884 C>T), RS1000233129 (1:235631287 G>A), RS1000242078 (1:235593949 C>G,T), RS1000269434 (1:235619496 G>A), RS1000314115 (1:235584358 C>G), RS1000316030 (1:235649104 G>A)
Disease associations
OMIM: gene MIM:604388 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000096_5 | Aging traits | 6.000000e-06 |
| GCST003074_5 | Cerebral amyloid deposition in APOEe4 non-carriers (PET imaging) | 5.000000e-08 |
| GCST009379_10 | Type 2 diabetes | 5.000000e-10 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004704 | age at menopause |
| EFO:0007707 | cerebral amyloid deposition measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
51 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 6 |
| methylmercuric chloride | increases expression, affects cotreatment | 4 |
| Benzo(a)pyrene | affects methylation, decreases expression, increases methylation | 4 |
| bisphenol A | decreases expression, decreases methylation, increases methylation | 3 |
| Tretinoin | decreases expression | 3 |
| sodium arsenite | increases expression, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Particulate Matter | increases abundance, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| titanium dioxide | decreases methylation | 1 |
| arsenite | increases methylation | 1 |
| butyraldehyde | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | decreases reaction, increases expression | 1 |
| tamibarotene | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, decreases expression, affects cotreatment | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression, decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Ethanol | affects cotreatment, decreases expression | 1 |
| Atrazine | increases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Diclofenac | affects expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Folic Acid | affects cotreatment, decreases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Lead | affects expression | 1 |
| Lipopolysaccharides | increases expression, decreases reaction | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2XV | Abcam HEK293T GNG4 KO | Transformed cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.