GNG10
gene geneOn this page
Summary
GNG10 (G protein subunit gamma 10, HGNC:4402) is a protein-coding gene on chromosome 9q31.3, encoding Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-10 (P50151). 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. Predicted to be involved in G protein-coupled receptor signaling pathway. Predicted to be located in plasma membrane. Predicted to be part of heterotrimeric G-protein complex.
Source: NCBI Gene 2790 — RefSeq curated summary.
At a glance
- MANE Select transcript:
NM_001017998
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4402 |
| Approved symbol | GNG10 |
| Name | G protein subunit gamma 10 |
| Location | 9q31.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000242616 |
| Ensembl biotype | protein_coding |
| OMIM | 604389 |
| Entrez | 2790 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 10 protein_coding
ENST00000374293, ENST00000856097, ENST00000856098, ENST00000856099, ENST00000856100, ENST00000936108, ENST00000936109, ENST00000936110, ENST00000936111, ENST00000936112
RefSeq mRNA: 2 — MANE Select: NM_001017998
NM_001017998, NM_001198664
CCDS: CCDS35107
Canonical transcript exons
ENST00000374293 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001463059 | 111661605 | 111661715 |
| ENSE00001816903 | 111669269 | 111670226 |
| ENSE00003550470 | 111666815 | 111666946 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 97.79.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.0053 / max 965.7419, expressed in 1792 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 98020 | 32.1678 | 1789 |
| 98018 | 0.6923 | 279 |
| 98019 | 0.1452 | 62 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| monocyte | CL:0000576 | 97.79 | gold quality |
| leukocyte | CL:0000738 | 97.66 | gold quality |
| amygdala | UBERON:0001876 | 97.39 | gold quality |
| islet of Langerhans | UBERON:0000006 | 97.34 | gold quality |
| nucleus accumbens | UBERON:0001882 | 97.21 | gold quality |
| vermiform appendix | UBERON:0001154 | 97.19 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 97.17 | gold quality |
| temporal lobe | UBERON:0001871 | 97.10 | gold quality |
| hypothalamus | UBERON:0001898 | 97.01 | gold quality |
| adenohypophysis | UBERON:0002196 | 96.99 | gold quality |
| putamen | UBERON:0001874 | 96.94 | gold quality |
| Ammon’s horn | UBERON:0001954 | 96.91 | gold quality |
| omental fat pad | UBERON:0010414 | 96.81 | gold quality |
| gall bladder | UBERON:0002110 | 96.72 | gold quality |
| pituitary gland | UBERON:0000007 | 96.70 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 96.69 | gold quality |
| caudate nucleus | UBERON:0001873 | 96.68 | gold quality |
| lymph node | UBERON:0000029 | 96.65 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 96.64 | gold quality |
| substantia nigra | UBERON:0002038 | 96.61 | gold quality |
| left coronary artery | UBERON:0001626 | 96.41 | gold quality |
| left adrenal gland | UBERON:0001234 | 96.33 | gold quality |
| adipose tissue | UBERON:0001013 | 96.32 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 96.32 | gold quality |
| calcaneal tendon | UBERON:0003701 | 96.27 | gold quality |
| right coronary artery | UBERON:0001625 | 96.26 | gold quality |
| thoracic aorta | UBERON:0001515 | 96.25 | gold quality |
| placenta | UBERON:0001987 | 96.24 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 96.23 | gold quality |
| ascending aorta | UBERON:0001496 | 96.21 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 10.51 |
| E-HCAD-13 | no | 828.45 |
| E-MTAB-7381 | no | 610.21 |
| E-GEOD-86618 | no | 191.48 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
62 targeting GNG10, 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-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-605-3P | 99.88 | 69.22 | 1833 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-548AZ-5P | 99.83 | 69.94 | 3230 |
| HSA-MIR-548T-5P | 99.83 | 69.91 | 3220 |
| HSA-MIR-4799-5P | 99.82 | 70.60 | 2663 |
| HSA-MIR-4495 | 99.82 | 72.08 | 3080 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-4639-5P | 99.81 | 67.37 | 1028 |
| HSA-MIR-636 | 99.80 | 69.58 | 1500 |
| HSA-MIR-4679 | 99.76 | 69.19 | 1229 |
| HSA-MIR-4255 | 99.72 | 67.70 | 1541 |
| HSA-MIR-494-3P | 99.70 | 71.45 | 2795 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
Literature-anchored findings (GeneRIF, showing 1)
- GNG10 mutations are associated with melanoma. (PMID:20424519)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gng10 | ENSDARG00000104043 |
| mus_musculus | Gng10 | ENSMUSG00000038607 |
| rattus_norvegicus | Gng10-ps1 | ENSRNOG00000070865 |
| drosophila_melanogaster | Ggamma1 | FBGN0004921 |
Paralogs (11): GNG11 (ENSG00000127920), GNGT1 (ENSG00000127928), GNG5B (ENSG00000133136), GNG3 (ENSG00000162188), GNGT2 (ENSG00000167083), GNG8 (ENSG00000167414), GNG4 (ENSG00000168243), GNG12 (ENSG00000172380), GNG5 (ENSG00000174021), GNG7 (ENSG00000176533), GNG2 (ENSG00000186469)
Protein
Protein identifiers
Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-10 — P50151 (reviewed: P50151)
All UniProt accessions (1): P50151
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. Interacts with beta-1 and beta-2, but not with beta-3.
Subunit / interactions. G proteins are composed of 3 units, alpha, beta and gamma.
Subcellular location. Cell membrane.
Tissue specificity. Abundantly and ubiquitously expressed.
Similarity. Belongs to the G protein gamma family.
RefSeq proteins (2): NP_001017998, NP_001185593 (=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 (6 total): modified residue 2, initiator methionine 1, chain 1, propeptide 1, lipid moiety-binding region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P50151-F1 | 89.58 | 0.67 |
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 (3): 2, 65, 65
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: 262 (showing top):
HORIUCHI_WTAP_TARGETS_DN, REACTOME_GLUCAGON_TYPE_LIGAND_RECEPTORS, DORSAM_HOXA9_TARGETS_UP, MODULE_169, REACTOME_ADRENALINE_NORADRENALINE_INHIBITS_INSULIN_SECRETION, REACTOME_POTASSIUM_CHANNELS, MODULE_151, REACTOME_INWARDLY_RECTIFYING_K_CHANNELS, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, REACTOME_G_ALPHA_Z_SIGNALLING_EVENTS, SHAFFER_IRF4_TARGETS_IN_ACTIVATED_B_LYMPHOCYTE, REACTOME_GLUCAGON_SIGNALING_IN_METABOLIC_REGULATION, GOLDRATH_ANTIGEN_RESPONSE, LINDGREN_BLADDER_CANCER_CLUSTER_2A_DN, GTGCCTT_MIR506
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
1168 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GNG10 | GNG11 | P50152 | 982 |
| GNG10 | GNG13 | Q9P2W3 | 751 |
| GNG10 | GNB1 | P04697 | 743 |
| GNG10 | GNB4 | Q9HAV0 | 669 |
| GNG10 | DEFB124 | Q8NES8 | 478 |
| GNG10 | GNB2 | P11016 | 451 |
| GNG10 | GNGT2 | O14610 | 435 |
| GNG10 | LPAR1 | P78351 | 423 |
| GNG10 | GNB3 | P16520 | 417 |
| GNG10 | GNG12 | Q9UBI6 | 414 |
| GNG10 | ENAH | Q8N8S7 | 411 |
| GNG10 | CACNA1B | Q00975 | 410 |
| GNG10 | SBF2 | Q86WG5 | 406 |
| GNG10 | FOXK2 | Q01167 | 405 |
| GNG10 | CLPSL2 | Q6UWE3 | 399 |
IntAct
61 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PCGF2 | CBX4 | psi-mi:“MI:0914”(association) | 0.840 |
| RAMAC | RNMT | psi-mi:“MI:0914”(association) | 0.810 |
| GNG10 | KRT38 | psi-mi:“MI:0915”(physical association) | 0.740 |
| KRT38 | GNG10 | psi-mi:“MI:0915”(physical association) | 0.740 |
| HNRNPCL1 | HNRNPC | psi-mi:“MI:0914”(association) | 0.670 |
| GNG10 | GNB1 | psi-mi:“MI:0914”(association) | 0.640 |
| GNG10 | GNB2 | psi-mi:“MI:0914”(association) | 0.640 |
| GNG10 | GNAI1 | psi-mi:“MI:0914”(association) | 0.640 |
| GNAI3 | RGS12 | psi-mi:“MI:0914”(association) | 0.640 |
| GNG10 | TCF4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GNG10 | KRT31 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT31 | GNG10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TCF4 | GNG10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT34 | GNG10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT16 | GNG10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GNG10 | GNB3 | psi-mi:“MI:0914”(association) | 0.530 |
| FYTTD1 | UBA6 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC25A41 | NUDT19 | psi-mi:“MI:0914”(association) | 0.530 |
| GNG10 | GNAS | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (67): KRT31 (Two-hybrid), TCF4 (Two-hybrid), KRT38 (Two-hybrid), GNG10 (Affinity Capture-MS), GNG10 (Affinity Capture-MS), GNG10 (Affinity Capture-MS), GNG10 (Affinity Capture-MS), GNG10 (Affinity Capture-MS), GNG10 (Affinity Capture-MS), GNG10 (Affinity Capture-MS), GNG10 (Affinity Capture-MS), GNG10 (Affinity Capture-MS), GNG10 (Affinity Capture-MS), GNG10 (Affinity Capture-MS), GNG10 (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: A0A804HLA8, O60262, P30671, P38040, P43425, P50150, P50151, P50153, P59768, P63077, P63078, P63212, P63213, P63214, P63215, P63216, P63217, P63218, P63219, Q28024, Q4VT26, Q5R639, Q5R7U4, Q5RBQ0, Q5REH7, Q61016, Q80SZ7, Q9CXP8, Q9DAS9, Q9UBI6, Q9UK08, O14610, O97564, P02698, P50154, P54406, P61952, P61953, P61954, P63210
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 48 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 | 8 | 104.5× | 4e-13 |
| Prostacyclin signalling through prostacyclin receptor | 5 | 79.1× | 9e-08 |
| Adrenaline,noradrenaline inhibits insulin secretion | 6 | 62.2× | 1e-08 |
| G alpha (z) signalling events | 10 | 61.3× | 8e-14 |
| ADORA2B mediated anti-inflammatory cytokines production | 9 | 60.1× | 1e-12 |
| GPER1 signaling | 9 | 58.8× | 1e-12 |
| Glucagon signaling in metabolic regulation | 5 | 45.5× | 1e-06 |
| Glucagon-type ligand receptors | 5 | 45.5× | 1e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| G protein-coupled receptor signaling pathway | 8 | 6.3× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
0 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
847 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:111663345:GAGGA:G | donor_gain | 0.9900 |
| 9:111663347:GGA:G | donor_gain | 0.9900 |
| 9:111663348:GAG:G | donor_gain | 0.9900 |
| 9:111666897:G:GT | donor_gain | 0.9900 |
| 9:111661713:AAGG:A | donor_loss | 0.9800 |
| 9:111661714:AG:A | donor_loss | 0.9800 |
| 9:111661715:GG:G | donor_loss | 0.9800 |
| 9:111663350:G:GG | donor_gain | 0.9800 |
| 9:111666942:GACTC:G | donor_gain | 0.9800 |
| 9:111666947:G:GG | donor_gain | 0.9800 |
| 9:111666811:TCA:T | acceptor_loss | 0.9700 |
| 9:111666812:CAGGT:C | acceptor_loss | 0.9700 |
| 9:111666813:A:C | acceptor_loss | 0.9700 |
| 9:111661772:G:GT | donor_gain | 0.9600 |
| 9:111666814:G:GT | acceptor_loss | 0.9600 |
| 9:111666951:G:GG | donor_gain | 0.9600 |
| 9:111669267:A:AG | acceptor_gain | 0.9600 |
| 9:111669268:G:GG | acceptor_gain | 0.9600 |
| 9:111669268:GTA:G | acceptor_gain | 0.9600 |
| 9:111661813:G:GA | donor_gain | 0.9500 |
| 9:111661676:AG:A | donor_gain | 0.9400 |
| 9:111666950:A:AG | donor_gain | 0.9400 |
| 9:111661675:T:TA | donor_gain | 0.9300 |
| 9:111661812:T:TA | donor_gain | 0.9300 |
| 9:111669267:AGTAG:A | acceptor_gain | 0.9300 |
| 9:111669268:GTAGG:G | acceptor_gain | 0.9300 |
| 9:111662447:GAAA:G | donor_gain | 0.9200 |
| 9:111662478:G:GT | donor_gain | 0.9200 |
| 9:111664074:A:AG | donor_gain | 0.8900 |
| 9:111663348:GA:G | donor_gain | 0.8800 |
AlphaMissense
432 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:111666908:T:C | F59L | 0.999 |
| 9:111666910:C:A | F59L | 0.999 |
| 9:111666910:C:G | F59L | 0.999 |
| 9:111661708:G:T | R25M | 0.998 |
| 9:111666837:T:A | L35H | 0.998 |
| 9:111666837:T:C | L35P | 0.998 |
| 9:111666908:T:A | F59I | 0.998 |
| 9:111666828:C:A | A32D | 0.997 |
| 9:111666909:T:C | F59S | 0.997 |
| 9:111661709:G:C | R25S | 0.996 |
| 9:111661709:G:T | R25S | 0.996 |
| 9:111666908:T:G | F59V | 0.996 |
| 9:111661684:T:C | L17P | 0.995 |
| 9:111666827:G:C | A32P | 0.995 |
| 9:111666869:G:C | D46H | 0.995 |
| 9:111666909:T:G | F59C | 0.995 |
| 9:111666824:G:C | A31P | 0.994 |
| 9:111666870:A:C | D46A | 0.994 |
| 9:111666870:A:T | D46V | 0.994 |
| 9:111666876:T:A | L48Q | 0.994 |
| 9:111666845:T:G | Y38D | 0.993 |
| 9:111666904:C:A | N57K | 0.993 |
| 9:111666904:C:G | N57K | 0.993 |
| 9:111661695:G:C | A21P | 0.992 |
| 9:111661708:G:C | R25T | 0.992 |
| 9:111666850:T:G | C39W | 0.992 |
| 9:111666846:A:C | Y38S | 0.991 |
| 9:111666849:G:A | C39Y | 0.991 |
| 9:111666869:G:A | D46N | 0.990 |
| 9:111666870:A:G | D46G | 0.990 |
dbSNP variants (sampled 300 via entrez): RS1000298525 (9:111664315 TAG>T), RS1000510852 (9:111665696 T>C,G), RS1000516030 (9:111668481 C>T), RS1000564181 (9:111664053 T>A), RS1000712983 (9:111660998 A>G), RS1001397678 (9:111661313 T>C), RS1001879633 (9:111664009 A>G,T), RS1001887584 (9:111661356 C>T), RS1002095635 (9:111662547 G>A), RS1002334447 (9:111665285 A>G), RS1002535582 (9:111665425 T>G), RS1002552681 (9:111662105 G>C), RS1003008710 (9:111662140 T>A,C), RS1003240970 (9:111665778 G>C), RS1003879953 (9:111666313 A>G)
Disease associations
OMIM: gene MIM:604389 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| trichostatin A | affects cotreatment, decreases expression | 2 |
| Air Pollutants | decreases expression, affects expression, increases abundance | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| Antirheumatic Agents | decreases expression | 2 |
| methylmercuric chloride | decreases expression | 1 |
| glycidyl methacrylate | decreases expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| sodium arsenite | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| isobutyl alcohol | affects cotreatment, decreases expression, increases abundance | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| MT19c compound | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Cannabidiol | decreases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Gasoline | decreases expression, increases abundance, affects cotreatment | 1 |
| Gold | decreases expression | 1 |
| Manganese | increases expression, increases abundance | 1 |
| Nicotine | increases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Polycyclic Aromatic Hydrocarbons | affects cotreatment, decreases expression, increases abundance | 1 |
| Smoke | increases abundance, decreases expression | 1 |
| Valproic Acid | decreases methylation | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
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.