GNG11
gene geneOn this page
Also known as GNGT11
Summary
GNG11 (G protein subunit gamma 11, HGNC:4403) is a protein-coding gene on chromosome 7q21.3, encoding Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-11 (P61952). Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems.
This gene is a member of the guanine nucleotide-binding protein (G protein) gamma family and encodes a lipid-anchored, cell membrane protein. As a member of the heterotrimeric G protein complex, this protein plays a role in this transmembrane signaling system. This protein is also subject to carboxyl-terminal processing. Decreased expression of this gene is associated with splenic marginal zone lymphomas.
Source: NCBI Gene 2791 — RefSeq curated summary.
At a glance
- GWAS associations: 14
- Clinical variants (ClinVar): 4 total — 1 pathogenic
- MANE Select transcript:
NM_004126
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4403 |
| Approved symbol | GNG11 |
| Name | G protein subunit gamma 11 |
| Location | 7q21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GNGT11 |
| Ensembl gene | ENSG00000127920 |
| Ensembl biotype | protein_coding |
| OMIM | 604390 |
| Entrez | 2791 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000248564
RefSeq mRNA: 1 — MANE Select: NM_004126
NM_004126
CCDS: CCDS5634
Canonical transcript exons
ENST00000248564 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000877334 | 93926091 | 93928610 |
| ENSE00001031672 | 93921735 | 93922233 |
Expression profiles
Bgee: expression breadth ubiquitous, 282 present calls, max score 98.48.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 110.2123 / max 1543.2620, expressed in 1401 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 79583 | 35.7040 | 1293 |
| 79577 | 27.1441 | 1217 |
| 79576 | 15.3357 | 1137 |
| 79578 | 11.8112 | 1090 |
| 79584 | 10.0766 | 1089 |
| 79582 | 6.8492 | 1037 |
| 79579 | 1.1999 | 523 |
| 79580 | 1.1543 | 551 |
| 79581 | 0.9373 | 453 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pigmented layer of retina | UBERON:0001782 | 98.48 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 98.27 | gold quality |
| periodontal ligament | UBERON:0008266 | 98.03 | gold quality |
| monocyte | CL:0000576 | 97.42 | gold quality |
| stromal cell of endometrium | CL:0002255 | 97.37 | gold quality |
| mammary duct | UBERON:0001765 | 97.34 | gold quality |
| mononuclear cell | CL:0000842 | 97.13 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 96.96 | gold quality |
| seminal vesicle | UBERON:0000998 | 96.81 | gold quality |
| parietal pleura | UBERON:0002400 | 96.50 | gold quality |
| placenta | UBERON:0001987 | 96.32 | gold quality |
| adipose tissue | UBERON:0001013 | 96.07 | gold quality |
| leukocyte | CL:0000738 | 96.05 | gold quality |
| diaphragm | UBERON:0001103 | 96.00 | gold quality |
| adult organism | UBERON:0007023 | 95.99 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 95.93 | gold quality |
| connective tissue | UBERON:0002384 | 95.82 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 95.76 | gold quality |
| heart right ventricle | UBERON:0002080 | 95.69 | gold quality |
| renal glomerulus | UBERON:0000074 | 95.60 | gold quality |
| omental fat pad | UBERON:0010414 | 95.55 | gold quality |
| peritoneum | UBERON:0002358 | 95.53 | gold quality |
| pleura | UBERON:0000977 | 95.48 | gold quality |
| synovial joint | UBERON:0002217 | 95.12 | gold quality |
| skin of hip | UBERON:0001554 | 95.07 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 94.86 | gold quality |
| vena cava | UBERON:0004087 | 94.80 | gold quality |
| decidua | UBERON:0002450 | 94.63 | gold quality |
| lower lobe of lung | UBERON:0008949 | 94.39 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 94.28 | gold quality |
Single-cell (SCXA)
Detected in 65 experiment(s), a significant marker in 62.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10432 | yes | 11594.28 |
| E-GEOD-139324 | yes | 9796.07 |
| E-MTAB-8207 | yes | 8458.84 |
| E-MTAB-6701 | yes | 8287.31 |
| E-MTAB-9221 | yes | 6652.80 |
| E-GEOD-149689 | yes | 6410.44 |
| E-HCAD-4 | yes | 5715.29 |
| E-MTAB-6308 | yes | 4131.89 |
| E-HCAD-24 | yes | 4005.98 |
| E-GEOD-124263 | yes | 3846.62 |
| E-GEOD-130148 | yes | 3806.10 |
| E-MTAB-10662 | yes | 3658.42 |
| E-MTAB-7407 | yes | 3504.24 |
| E-HCAD-1 | yes | 3491.73 |
| E-HCAD-11 | yes | 2742.06 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
26 targeting GNG11, 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-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-652-5P | 99.91 | 67.49 | 505 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-1323 | 99.83 | 69.89 | 2471 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-4766-5P | 99.75 | 69.23 | 2662 |
| HSA-MIR-548O-3P | 99.74 | 69.30 | 2228 |
| HSA-MIR-4422 | 99.72 | 72.07 | 2908 |
| HSA-MIR-4677-5P | 99.70 | 70.09 | 1940 |
| HSA-MIR-587 | 99.64 | 70.86 | 2611 |
| HSA-MIR-2116-5P | 99.32 | 69.34 | 1273 |
| HSA-MIR-10524-5P | 99.05 | 66.08 | 963 |
| HSA-MIR-6728-3P | 98.63 | 67.63 | 1534 |
| HSA-MIR-4720-3P | 98.50 | 68.88 | 988 |
| HSA-MIR-204-3P | 97.80 | 66.84 | 1656 |
| HSA-MIR-4646-5P | 97.70 | 66.84 | 1692 |
| HSA-MIR-22-5P | 97.67 | 68.92 | 1355 |
| HSA-MIR-4314 | 97.50 | 67.30 | 1369 |
| HSA-MIR-4436B-5P | 96.71 | 68.37 | 1346 |
| HSA-MIR-454-5P | 96.51 | 68.35 | 263 |
| HSA-MIR-3174 | 94.63 | 63.64 | 577 |
| HSA-MIR-1298-3P | 94.05 | 64.84 | 620 |
Literature-anchored findings (GeneRIF, showing 2)
- Collectively, these results suggest a novel senescence pathway mediated by GNG11 in response to environmental cues. (PMID:17092487)
- expression of GNG11 induced the generation of reactive oxygen species (ROS) and abnormal nuclear morphology in SUSM-1 cells but not in HeLa cells (PMID:28380310)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gngt1 | ENSDARG00000035798 |
| mus_musculus | Gng11 | ENSMUSG00000032766 |
| rattus_norvegicus | Gng11 | ENSRNOG00000050469 |
| drosophila_melanogaster | Ggamma1 | FBGN0004921 |
Paralogs (11): GNGT1 (ENSG00000127928), GNG5B (ENSG00000133136), GNG3 (ENSG00000162188), 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-11 — P61952 (reviewed: P61952)
All UniProt accessions (2): P61952, Q53Y01
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-3, but not with beta-2.
Subcellular location. Cell membrane.
Tissue specificity. Abundantly expressed in all tissues tested except for brain.
Similarity. Belongs to the G protein gamma family.
RefSeq proteins (1): NP_004117* (*=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 (5 total): chain 1, propeptide 1, region of interest 1, modified residue 1, lipid moiety-binding region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P61952-F1 | 88.61 | 0.59 |
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): 70, 70
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: 312 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, BEGUM_TARGETS_OF_PAX3_FOXO1_FUSION_UP, MODULE_52, WALLACE_PROSTATE_CANCER_RACE_UP, REACTOME_GLUCAGON_TYPE_LIGAND_RECEPTORS, 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, MODULE_45, MODULE_64, REACTOME_GLUCAGON_SIGNALING_IN_METABOLIC_REGULATION, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_2_DN
GO Biological Process (2): signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186)
GO Molecular Function (3): GTPase activity (GO:0003924), G-protein beta-subunit binding (GO:0031681), protein binding (GO:0005515)
GO Cellular Component (3): heterotrimeric G-protein complex (GO:0005834), plasma membrane (GO:0005886), 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 |
|---|---|
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| G protein-coupled receptor activity | 1 |
| signal transduction | 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 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
34 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GNAI3 | RGS12 | psi-mi:“MI:0914”(association) | 0.640 |
| GNG11 | CEP44 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GNG11 | REP15 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GNG11 | GNB1 | psi-mi:“MI:0914”(association) | 0.500 |
| GNG11 | GNB2 | psi-mi:“MI:0914”(association) | 0.500 |
| GNG11 | GNB3 | psi-mi:“MI:0914”(association) | 0.500 |
| GNB4 | GNG11 | psi-mi:“MI:0915”(physical association) | 0.500 |
| GNB3 | GNG11 | psi-mi:“MI:0915”(physical association) | 0.500 |
| GNB2 | GNG11 | psi-mi:“MI:0915”(physical association) | 0.500 |
| GNB1 | GNG11 | psi-mi:“MI:0915”(physical association) | 0.500 |
| GNG11 | PDCL | psi-mi:“MI:0915”(physical association) | 0.400 |
| GNG11 | AMOTL2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| GNG11 | GNAI1 | psi-mi:“MI:0914”(association) | 0.350 |
| GNG11 | GNAS | psi-mi:“MI:0914”(association) | 0.350 |
| GNG11 | Ntsr1 | psi-mi:“MI:0914”(association) | 0.350 |
| GNAS | GNG11 | psi-mi:“MI:0914”(association) | 0.350 |
| SMURF1 | GNG11 | psi-mi:“MI:2364”(proximity) | 0.270 |
| GNG11 | CEP44 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (19): GNG11 (Two-hybrid), MEOX2 (Two-hybrid), CEP44 (Two-hybrid), GNG11 (Affinity Capture-MS), AMOTL2 (Two-hybrid), GNG11 (Co-localization), GNG11 (Affinity Capture-MS), PDCL (Affinity Capture-MS), ZHX1 (Two-hybrid), CEP44 (Two-hybrid), REP15 (Two-hybrid), GNG11 (Reconstituted Complex), GNG11 (Reconstituted Complex), GNG11 (Affinity Capture-MS), GNG11 (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: O14610, O60262, O97564, P02698, P30671, P43425, P50150, P50151, P50153, P50154, P54406, P59768, P61952, P61953, P61954, P63077, P63078, P63210, P63211, P63212, P63213, P63214, P63215, P63216, P63217, P63218, P63219, Q28024, Q5E9F0, Q5R639, Q5R7U4, Q5RBQ0, Q5REH7, Q61012, Q61016, Q61017, Q80SZ7, Q9CXP8, Q9DAS9, Q9NFZ2
SIGNOR signaling
0 interactions.
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 |
|---|---|---|---|
| Prostacyclin signalling through prostacyclin receptor | 5 | 273.2× | 4e-11 |
| ADP signalling through P2Y purinoceptor 12 | 6 | 270.8× | 2e-13 |
| Adrenaline,noradrenaline inhibits insulin secretion | 5 | 179.0× | 2e-10 |
| ADORA2B mediated anti-inflammatory cytokines production | 7 | 161.5× | 1e-13 |
| GPER1 signaling | 7 | 158.0× | 1e-13 |
| Glucagon signaling in metabolic regulation | 5 | 157.3× | 4e-10 |
| Glucagon-type ligand receptors | 5 | 157.3× | 4e-10 |
| G alpha (z) signalling events | 7 | 148.3× | 1e-13 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| G protein-coupled receptor signaling pathway | 7 | 18.1× | 4e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
4 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 1 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 563412 | GRCh37/hg19 7q21.3(chr7:93285237-96280817)x1 | Pathogenic |
SpliceAI
108 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:93922230:ACAA:A | donor_gain | 1.0000 |
| 7:93922231:CAA:C | donor_gain | 1.0000 |
| 7:93922233:AG:A | donor_loss | 1.0000 |
| 7:93922234:G:GG | donor_gain | 1.0000 |
| 7:93922229:AACAA:A | donor_gain | 0.9900 |
| 7:93922232:AA:A | donor_gain | 0.9900 |
| 7:93926083:T:G | acceptor_gain | 0.9900 |
| 7:93926084:A:AG | acceptor_gain | 0.9900 |
| 7:93926089:A:AG | acceptor_loss | 0.9900 |
| 7:93926089:A:G | acceptor_gain | 0.9900 |
| 7:93926090:G:GC | acceptor_loss | 0.9900 |
| 7:93926090:GGT:G | acceptor_gain | 0.9800 |
| 7:93922210:G:GT | donor_gain | 0.9700 |
| 7:93926088:A:AG | acceptor_gain | 0.9700 |
| 7:93926088:AAG:A | acceptor_gain | 0.9700 |
| 7:93922214:TG:T | donor_gain | 0.9600 |
| 7:93926082:A:AG | acceptor_gain | 0.9600 |
| 7:93926085:C:G | acceptor_gain | 0.9600 |
| 7:93922189:G:GT | donor_gain | 0.9500 |
| 7:93926090:G:GG | acceptor_gain | 0.9400 |
| 7:93922215:G:GT | donor_gain | 0.9300 |
| 7:93922237:A:AG | donor_gain | 0.9000 |
| 7:93922238:G:GG | donor_gain | 0.9000 |
| 7:93926088:AAGGT:A | acceptor_gain | 0.9000 |
| 7:93926090:GGTGT:G | acceptor_gain | 0.8800 |
| 7:93926197:G:GT | donor_gain | 0.8500 |
| 7:93926198:C:T | donor_gain | 0.8500 |
| 7:93926090:G:A | acceptor_gain | 0.8300 |
| 7:93926246:G:GT | donor_gain | 0.8100 |
| 7:93926089:AG:A | acceptor_gain | 0.7800 |
AlphaMissense
480 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:93922227:A:C | R30S | 0.997 |
| 7:93922227:A:T | R30S | 0.997 |
| 7:93922202:T:C | L22P | 0.995 |
| 7:93922226:G:C | R30T | 0.995 |
| 7:93926184:T:C | F64L | 0.991 |
| 7:93926186:T:A | F64L | 0.991 |
| 7:93926186:T:G | F64L | 0.991 |
| 7:93926180:C:A | N62K | 0.989 |
| 7:93926180:C:G | N62K | 0.989 |
| 7:93922226:G:T | R30I | 0.987 |
| 7:93926145:G:C | D51H | 0.987 |
| 7:93926146:A:C | D51A | 0.987 |
| 7:93926147:T:A | D51E | 0.987 |
| 7:93926147:T:G | D51E | 0.987 |
| 7:93926146:A:G | D51G | 0.985 |
| 7:93926146:A:T | D51V | 0.985 |
| 7:93926152:T:C | L53P | 0.985 |
| 7:93926152:T:A | L53Q | 0.984 |
| 7:93926185:T:C | F64S | 0.984 |
| 7:93926184:T:A | F64I | 0.983 |
| 7:93926189:A:C | K65N | 0.982 |
| 7:93926189:A:T | K65N | 0.982 |
| 7:93922199:A:C | Q21P | 0.979 |
| 7:93926178:A:G | N62D | 0.979 |
| 7:93922225:A:G | R30G | 0.978 |
| 7:93926113:T:A | I40K | 0.978 |
| 7:93926113:T:G | I40R | 0.976 |
| 7:93926125:T:A | I44N | 0.976 |
| 7:93926152:T:G | L53R | 0.976 |
| 7:93926181:C:T | P63S | 0.976 |
dbSNP variants (sampled 300 via entrez): RS1000016433 (7:93921801 G>T), RS1000139722 (7:93925826 TGACCAAC>T), RS1000536198 (7:93921333 C>T), RS1000861076 (7:93927307 C>T), RS1000975201 (7:93926984 C>T), RS1001048813 (7:93925023 G>A), RS1001432773 (7:93920552 G>A), RS1002386024 (7:93925056 T>TGGGAGGCTGA), RS1002476447 (7:93919845 T>A,C), RS1002539929 (7:93923370 A>G), RS1002550411 (7:93927932 A>G), RS1002768563 (7:93920109 A>T), RS1003947060 (7:93925468 T>C), RS1003997705 (7:93925225 A>G), RS1004866882 (7:93922167 A>G)
Disease associations
OMIM: gene MIM:604390 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
14 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001969_2 | Heart rate | 7.000000e-12 |
| GCST003818_37 | Resting heart rate | 5.000000e-21 |
| GCST004732_11 | Heart rate variability traits (pvRSA/HF) | 2.000000e-11 |
| GCST004732_12 | Heart rate variability traits (pvRSA/HF) | 2.000000e-11 |
| GCST004733_14 | Heart rate variability traits (RMSSD) | 8.000000e-16 |
| GCST004733_15 | Heart rate variability traits (RMSSD) | 8.000000e-19 |
| GCST004734_19 | Heart rate variability traits (SDNN) | 4.000000e-17 |
| GCST004734_9 | Heart rate variability traits (SDNN) | 5.000000e-19 |
| GCST004863_15 | Mosquito bite size | 2.000000e-07 |
| GCST005846_6 | Heart rate response to recovery post exercise (10 sec) | 7.000000e-12 |
| GCST005847_8 | Heart rate response to recovery post exercise (20 sec) | 9.000000e-11 |
| GCST005848_14 | Heart rate response to recovery post exercise (50 sec) | 4.000000e-11 |
| GCST005849_13 | Heart rate response to recovery post exercise (40 sec) | 2.000000e-12 |
| GCST005850_5 | Heart rate response to recovery post exercise (30 sec) | 2.000000e-11 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008003 | heart rate variability measurement |
| EFO:0008378 | mosquito bite reaction size measurement |
| EFO:0009185 | heart rate response to recovery post exercise |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
60 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, increases methylation, affects cotreatment, increases expression, affects expression | 8 |
| Benzo(a)pyrene | increases expression, increases methylation | 4 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| Air Pollutants | decreases expression, increases abundance | 3 |
| Aflatoxin B1 | affects expression, increases expression, increases methylation | 3 |
| Particulate Matter | decreases expression, increases abundance | 3 |
| bisphenol A | decreases expression, affects cotreatment | 2 |
| cobaltous chloride | decreases expression | 2 |
| Vorinostat | increases expression, affects cotreatment | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Acetaminophen | decreases expression, increases expression | 2 |
| Estradiol | affects expression, affects cotreatment, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Smoke | decreases expression, increases expression | 2 |
| Tetrachlorodibenzodioxin | increases expression | 2 |
| Tretinoin | decreases expression, increases expression | 2 |
| Asbestos, Crocidolite | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| 2,4-dichlorophenol | increases methylation | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| lead acetate | increases expression | 1 |
| 2,5,2’,5’-tetrachlorobiphenyl | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| methylparaben | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| bleomycetin | decreases expression | 1 |
| cupric chloride | increases expression | 1 |
| nickel sulfate | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1T3 | Abcam HeLa GNG11 KO | Cancer 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.