GPN3
gene geneOn this page
Also known as MGC14560
Summary
GPN3 (GPN-loop GTPase 3, HGNC:30186) is a protein-coding gene on chromosome 12q24.11, encoding GPN-loop GTPase 3 (Q9UHW5). Small GTPase involved in the correct assembly of RNA polymerase II (RNAPII) complex, ensuring proper nuclear import of RNAPII. It is a common-essential gene (DepMap: required in 98.6% of cancer cell lines).
Predicted to enable GTPase activity. Part of protein-containing complex.
Source: NCBI Gene 51184 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 29 total
- Cancer dependency (DepMap): dependent in 98.6% of screened cell lines (common-essential)
- MANE Select transcript:
NM_016301
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30186 |
| Approved symbol | GPN3 |
| Name | GPN-loop GTPase 3 |
| Location | 12q24.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC14560 |
| Ensembl gene | ENSG00000111231 |
| Ensembl biotype | protein_coding |
| Entrez | 51184 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 8 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000228827, ENST00000537466, ENST00000543199, ENST00000546592, ENST00000547323, ENST00000549963, ENST00000550228, ENST00000550974, ENST00000551079, ENST00000552180, ENST00000912297
RefSeq mRNA: 3 — MANE Select: NM_016301
NM_001164372, NM_001164373, NM_016301
CCDS: CCDS53830, CCDS53831, CCDS9147
Canonical transcript exons
ENST00000228827 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000755100 | 110453743 | 110453871 |
| ENSE00000834802 | 110455586 | 110455682 |
| ENSE00000834803 | 110455815 | 110455930 |
| ENSE00000834804 | 110457510 | 110457634 |
| ENSE00000834805 | 110459695 | 110459862 |
| ENSE00001133231 | 110468156 | 110468257 |
| ENSE00002351545 | 110452486 | 110453096 |
| ENSE00003681158 | 110465106 | 110465214 |
Expression profiles
Bgee: expression breadth ubiquitous, 285 present calls, max score 96.05.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.4492 / max 146.3959, expressed in 1797 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 133234 | 16.6967 | 1791 |
| 133233 | 1.0913 | 594 |
| 133237 | 0.6320 | 166 |
| 133236 | 0.0172 | 4 |
| 133235 | 0.0119 | 5 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 96.05 | gold quality |
| biceps brachii | UBERON:0001507 | 95.88 | gold quality |
| vastus lateralis | UBERON:0001379 | 93.28 | gold quality |
| heart right ventricle | UBERON:0002080 | 92.86 | gold quality |
| gastrocnemius | UBERON:0001388 | 92.65 | gold quality |
| quadriceps femoris | UBERON:0001377 | 92.63 | gold quality |
| muscle organ | UBERON:0001630 | 92.60 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 92.60 | gold quality |
| muscle of leg | UBERON:0001383 | 92.59 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 92.23 | gold quality |
| nephron tubule | UBERON:0001231 | 92.07 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 91.78 | gold quality |
| deltoid | UBERON:0001476 | 91.62 | gold quality |
| renal glomerulus | UBERON:0000074 | 91.30 | gold quality |
| right testis | UBERON:0004534 | 91.30 | gold quality |
| left testis | UBERON:0004533 | 91.23 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 91.23 | gold quality |
| testis | UBERON:0000473 | 90.97 | gold quality |
| sperm | CL:0000019 | 90.86 | gold quality |
| parotid gland | UBERON:0001831 | 90.74 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 90.73 | gold quality |
| popliteal artery | UBERON:0002250 | 90.65 | gold quality |
| tibial artery | UBERON:0007610 | 90.64 | gold quality |
| calcaneal tendon | UBERON:0003701 | 90.58 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 90.52 | gold quality |
| muscle tissue | UBERON:0002385 | 90.40 | gold quality |
| artery | UBERON:0001637 | 90.35 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 90.10 | gold quality |
| heart left ventricle | UBERON:0002084 | 90.08 | gold quality |
| cardiac ventricle | UBERON:0002082 | 90.05 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.54 |
| E-CURD-112 | yes | 9.30 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
47 targeting GPN3, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-369-3P | 99.85 | 70.52 | 2264 |
| HSA-MIR-5003-3P | 99.85 | 69.29 | 2517 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
| HSA-MIR-548H-3P | 99.84 | 70.80 | 4349 |
| HSA-MIR-548Z | 99.84 | 70.80 | 4349 |
| HSA-MIR-548AZ-5P | 99.83 | 69.94 | 3230 |
| HSA-MIR-548T-5P | 99.83 | 69.91 | 3220 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-374C-5P | 99.80 | 72.06 | 2910 |
| HSA-MIR-655-3P | 99.80 | 72.19 | 2909 |
| HSA-MIR-8084 | 99.73 | 69.57 | 1760 |
| HSA-MIR-4446-5P | 99.72 | 69.19 | 2544 |
| HSA-MIR-466 | 99.67 | 70.85 | 2863 |
| HSA-MIR-3609 | 99.52 | 69.89 | 2587 |
| HSA-MIR-548AH-5P | 99.52 | 69.73 | 2626 |
| HSA-MIR-6083 | 99.47 | 68.73 | 2393 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 98.6% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 6)
- Data show that GPN1/GPN3 define a new family of small GTPases that are specialized for the transport of RNA polymerase II into the nucleus. (PMID:21768307)
- Parcs/Gpn3 plays a critical role in the nuclear accumulation of RNAP II, and this function explains the relative importance of Parcs/Gpn3 in cell proliferation. (PMID:21782856)
- Gpn1-Gpn3 interaction was essential to maintain steady-state protein levels of both GTPases (PMID:25241168)
- an acquired PDZ-binding motif in Gpn3 Q279* caused Gpn3 nuclear entry, and inhibited Gpn1 nuclear export and Gpn3-mediated RNAPII nuclear targeting. (PMID:28940195)
- Results indicate that polyubiquitination on lysine 216 is a regulatory process for proteasomal degradation of Gpn3 that is not in a complex with Gpn1, a critical partner of Gpn3 in human cells. (PMID:29029378)
- our analysis of public data revealed that Gpn3 overexpression was associated with a significant decrease in overall survival in patients with estrogen receptor-positive and Human epidermal growth factor receptor 2 (HER2+) breast cancer, supporting our proposal that targeting Gpn3 could potentially benefit patients with breast cancer. (PMID:31431135)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gpn3 | ENSDARG00000069525 |
| mus_musculus | Gpn3 | ENSMUSG00000029464 |
| rattus_norvegicus | Gpn3 | ENSRNOG00000001278 |
| drosophila_melanogaster | CG2656 | FBGN0037478 |
| caenorhabditis_elegans | WBGENE00013550 |
Paralogs (2): GPN2 (ENSG00000142751), GPN1 (ENSG00000198522)
Protein
Protein identifiers
GPN-loop GTPase 3 — Q9UHW5 (reviewed: Q9UHW5)
Alternative names: ATP-binding domain 1 family member C
All UniProt accessions (5): Q9UHW5, F8W1F4, H0YHZ5, H0YI19, S4R3M7
UniProt curated annotations — full annotation on UniProt →
Function. Small GTPase involved in the correct assembly of RNA polymerase II (RNAPII) complex, ensuring proper nuclear import of RNAPII.
Subunit / interactions. Heterodimer with GPN1. Binds to RNA polymerase II (RNAPII). Interacts directly with subunits RPB4 and RPB7 and the CTD of RPB1.
Subcellular location. Cytoplasm. Nucleus.
Post-translational modifications. Polyubiquitinated and degraded by the proteasome in the nucleus. Polyubiquitination is tightly controlled by GPN1 through interaction.
Similarity. Belongs to the GPN-loop GTPase family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UHW5-1 | 1 | yes |
| Q9UHW5-2 | 2 | |
| Q9UHW5-3 | 3 |
RefSeq proteins (3): NP_001157844, NP_001157845, NP_057385* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004130 | Gpn | Family |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR030228 | Gpn3 | Family |
Pfam: PF03029
Catalyzed reactions (Rhea), 1 shown:
- GTP + H2O = GDP + phosphate + H(+) (RHEA:19669)
UniProt features (32 total): binding site 13, short sequence motif 6, sequence conflict 3, splice variant 2, sequence variant 2, mutagenesis site 2, chain 1, domain 1, site 1, cross-link 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UHW5-F1 | 85.88 | 0.57 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 74 (stabilizes the phosphate intermediate; shared with dimeric partner)
Ligand- & substrate-binding residues (13): 15; 15; 16; 17; 17; 17; 18; 18; 40; 177; 177; 13 …
Post-translational modifications (1): 216
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 210 | slightly decreased ubiquitination. further decreased ubiquitination; when associated with r-216. |
| 216 | markedly decreased ubiquitination. does not affect the movement between the cytoplasm and the nucleus. slowly decreased |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 172 (showing top):
E2F_Q4_01, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_NUCLEAR_TRANSPORT, WEI_MYCN_TARGETS_WITH_E_BOX, E2F_Q3, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, E2F1_Q3, DANG_BOUND_BY_MYC, GOBP_PROTEIN_LOCALIZATION_TO_NUCLEUS, E2F_Q3_01, MARSON_BOUND_BY_FOXP3_STIMULATED
GO Biological Process (1): protein import into nucleus (GO:0006606)
GO Molecular Function (5): GTPase activity (GO:0003924), GTP binding (GO:0005525), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787)
GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), protein-containing complex (GO:0032991)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular protein transport | 1 |
| protein localization to nucleus | 1 |
| import into nucleus | 1 |
| establishment of protein localization to organelle | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| guanyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| cellular_component | 1 |
Protein interactions and networks
STRING
1839 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GPN3 | RPAP2 | Q8IXW5 | 736 |
| GPN3 | RPAP1 | Q9BWH6 | 691 |
| GPN3 | GPN1 | Q9HCN4 | 679 |
| GPN3 | POLR2K | P53803 | 663 |
| GPN3 | SLC7A6OS | Q96CW6 | 662 |
| GPN3 | GPN2 | Q9H9Y4 | 652 |
| GPN3 | POLR2L | P52436 | 616 |
| GPN3 | POLR2C | P19387 | 615 |
| GPN3 | POLR2B | P30876 | 603 |
| GPN3 | FAM216A | Q8WUB2 | 596 |
| GPN3 | POLR2J | P52435 | 555 |
| GPN3 | POLR2F | P41584 | 555 |
| GPN3 | POLR2D | O15514 | 524 |
| GPN3 | POLR2A | P24928 | 516 |
| GPN3 | POLR2E | P19388 | 484 |
IntAct
96 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| POLR2E | POLR3A | psi-mi:“MI:0914”(association) | 0.870 |
| POLR2J | POLR1C | psi-mi:“MI:0914”(association) | 0.830 |
| MED9 | MED19 | psi-mi:“MI:0914”(association) | 0.790 |
| MED14 | MED19 | psi-mi:“MI:0914”(association) | 0.790 |
| MED26 | MED19 | psi-mi:“MI:0914”(association) | 0.730 |
| POLR2C | POLR2D | psi-mi:“MI:0914”(association) | 0.730 |
| RPRD1B | RECQL5 | psi-mi:“MI:0914”(association) | 0.730 |
| VAPB | FAM83G | psi-mi:“MI:0914”(association) | 0.730 |
| POLR2J | POLR2D | psi-mi:“MI:0914”(association) | 0.730 |
| RPRD1B | POLR2D | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| GPN3 | GPN1 | psi-mi:“MI:0915”(physical association) | 0.700 |
| GPN1 | GPN3 | psi-mi:“MI:0915”(physical association) | 0.700 |
| GPN3 | GPN1 | psi-mi:“MI:0403”(colocalization) | 0.700 |
| POLR2L | RCCD1 | psi-mi:“MI:0914”(association) | 0.640 |
| SCN2B | EXOC5 | psi-mi:“MI:0914”(association) | 0.640 |
| POLR3K | POLR3A | psi-mi:“MI:0914”(association) | 0.640 |
| POLR2D | RECQL5 | psi-mi:“MI:0914”(association) | 0.640 |
| POLR2F | POLR3A | psi-mi:“MI:0914”(association) | 0.640 |
| GTPBP2 | GPN3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KSR2 | POLR3A | psi-mi:“MI:0914”(association) | 0.530 |
| POLR2I | SUPT5H | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (220): RPRD1A (Affinity Capture-MS), POLR3K (Affinity Capture-MS), PIH1D1 (Affinity Capture-MS), POLR2G (Affinity Capture-MS), POLR3H (Affinity Capture-MS), POLR1E (Affinity Capture-MS), POLR1B (Affinity Capture-MS), ASPM (Affinity Capture-MS), POLR1A (Affinity Capture-MS), POLR3A (Affinity Capture-MS), RPAP2 (Affinity Capture-MS), POLR3E (Affinity Capture-MS), POLR2A (Affinity Capture-MS), POLR2D (Affinity Capture-MS), POLR3B (Affinity Capture-MS)
ESM2 similar proteins: A4FV08, A4IHW6, A5PJI5, G3V9T7, O43681, O54984, O94973, P16298, P17427, P18484, P20651, P48452, P48453, P63328, P63329, Q08209, Q08211, Q0IIZ2, Q0P5E2, Q0VCK5, Q17QL1, Q28141, Q2KJ61, Q2YDH6, Q2YDM2, Q3MHC2, Q503E1, Q5HZM6, Q5NVE6, Q5R5S4, Q5R874, Q5RIC0, Q5TA45, Q5ZHS1, Q5ZIH0, Q6GNQ1, Q6IQE5, Q6NVL5, Q6R518, Q7RTP6
Diamond homologs: A6H7F2, D4A7C0, O14443, P0CN94, P0CN95, Q06543, Q08726, Q0P5E2, Q28I42, Q4IQT8, Q4PF70, Q4R579, Q4V7Z0, Q4WT40, Q54NK8, Q54TE7, Q56XY2, Q58DD9, Q5A0W6, Q5BJ53, Q66KF6, Q6BI59, Q6CBB5, Q6CQA6, Q6FSS0, Q6PUR6, Q6R518, Q6ZM63, Q750Q9, Q8VEJ1, Q9D3W4, Q9H9Y4, Q9UHW5, Q9UTL7, Q54C25, Q8W586, A4FUD1, O42906, P46577, P47122
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 109 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 |
|---|---|---|---|
| RNA Polymerase III Chain Elongation | 12 | 101.5× | 1e-20 |
| FGFR2 mutant receptor activation | 10 | 101.5× | 8e-18 |
| Signaling by FGFR2 IIIa TM | 10 | 80.1× | 2e-16 |
| RNA Polymerase III Transcription Termination | 12 | 79.4× | 2e-19 |
| RNA Polymerase III Transcription Initiation From Type 2 Promoter | 13 | 73.3× | 4e-20 |
| Abortive elongation of HIV-1 transcript in the absence of Tat | 11 | 72.8× | 2e-17 |
| RNA Polymerase III Transcription Initiation From Type 1 Promoter | 13 | 70.7× | 4e-20 |
| RNA Polymerase III Transcription Initiation From Type 3 Promoter | 13 | 70.7× | 4e-20 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of transcription elongation by RNA polymerase II | 7 | 21.7× | 9e-06 |
| RNA polymerase II preinitiation complex assembly | 6 | 16.8× | 2e-04 |
| positive regulation of transcription initiation by RNA polymerase II | 6 | 16.8× | 2e-04 |
| transcription by RNA polymerase II | 11 | 8.0× | 3e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
29 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 24 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1440 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:110453101:C:CT | acceptor_gain | 1.0000 |
| 12:110453103:CAA:C | acceptor_gain | 1.0000 |
| 12:110453105:A:AC | acceptor_gain | 1.0000 |
| 12:110453105:A:C | acceptor_gain | 1.0000 |
| 12:110453738:ATTAC:A | donor_loss | 1.0000 |
| 12:110453739:TTAC:T | donor_loss | 1.0000 |
| 12:110453740:TACC:T | donor_loss | 1.0000 |
| 12:110453741:A:C | donor_loss | 1.0000 |
| 12:110453742:CCTT:C | donor_loss | 1.0000 |
| 12:110453835:C:CT | acceptor_gain | 1.0000 |
| 12:110453836:G:C | acceptor_gain | 1.0000 |
| 12:110453868:CAAT:C | acceptor_gain | 1.0000 |
| 12:110453875:CAAGT:C | acceptor_gain | 1.0000 |
| 12:110453879:T:TC | acceptor_gain | 1.0000 |
| 12:110455813:A:AC | donor_gain | 1.0000 |
| 12:110455814:C:CC | donor_gain | 1.0000 |
| 12:110455814:CTT:C | donor_gain | 1.0000 |
| 12:110455814:CTTCT:C | donor_gain | 1.0000 |
| 12:110455820:AATTT:A | donor_gain | 1.0000 |
| 12:110455926:ATAAA:A | acceptor_gain | 1.0000 |
| 12:110455927:TAAA:T | acceptor_gain | 1.0000 |
| 12:110455928:AAAC:A | acceptor_loss | 1.0000 |
| 12:110455930:AC:A | acceptor_loss | 1.0000 |
| 12:110455931:C:CC | acceptor_gain | 1.0000 |
| 12:110455932:T:G | acceptor_loss | 1.0000 |
| 12:110457501:G:C | donor_gain | 1.0000 |
| 12:110459721:T:TA | donor_gain | 1.0000 |
| 12:110459776:C:CA | donor_gain | 1.0000 |
| 12:110459860:TGT:T | acceptor_gain | 1.0000 |
| 12:110465100:ACTT:A | donor_loss | 1.0000 |
AlphaMissense
1916 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:110455857:T:A | K175I | 1.000 |
| 12:110459780:G:C | C80W | 1.000 |
| 12:110459781:C:T | C80Y | 1.000 |
| 12:110468160:C:T | G15E | 1.000 |
| 12:110468161:C:A | G15W | 1.000 |
| 12:110468176:C:G | G10R | 1.000 |
| 12:110455856:T:A | K175N | 0.999 |
| 12:110455856:T:G | K175N | 0.999 |
| 12:110457630:C:A | Q110H | 0.999 |
| 12:110457630:C:G | Q110H | 0.999 |
| 12:110457634:C:T | G109D | 0.999 |
| 12:110459695:C:A | G109C | 0.999 |
| 12:110459695:C:G | G109R | 0.999 |
| 12:110459701:A:G | C107R | 0.999 |
| 12:110459703:T:C | D106G | 0.999 |
| 12:110459703:T:G | D106A | 0.999 |
| 12:110459798:G:C | N74K | 0.999 |
| 12:110459798:G:T | N74K | 0.999 |
| 12:110459805:C:T | G72D | 0.999 |
| 12:110459856:C:G | R55P | 0.999 |
| 12:110465141:G:T | P41Q | 0.999 |
| 12:110465143:A:C | D40E | 0.999 |
| 12:110465143:A:T | D40E | 0.999 |
| 12:110465144:T:A | D40V | 0.999 |
| 12:110465144:T:C | D40G | 0.999 |
| 12:110465149:G:C | N38K | 0.999 |
| 12:110465149:G:T | N38K | 0.999 |
| 12:110465168:C:G | R32P | 0.999 |
| 12:110465203:A:C | C20W | 0.999 |
| 12:110465204:C:T | C20Y | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000234468 (12:110467687 C>G,T), RS1000288999 (12:110453836 G>A,T), RS1000308884 (12:110461376 A>G), RS1000350321 (12:110467906 GGTT>G), RS1000458476 (12:110460920 C>T), RS1000462140 (12:110461120 G>A), RS1000757989 (12:110453459 A>G), RS1000795077 (12:110459578 G>A,T), RS1000867822 (12:110459326 C>A), RS1000974828 (12:110465993 C>T), RS1001604658 (12:110452489 T>G), RS1001684684 (12:110462246 A>G), RS1001685093 (12:110460018 A>G), RS1001755729 (12:110454148 G>A), RS1001929509 (12:110452868 G>A)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST008103_92 | Bipolar disorder | 1.000000e-06 |
| GCST010988_502 | Adult body size | 3.000000e-11 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
23 total (human), top 23 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | affects expression, increases abundance, decreases expression | 2 |
| Cyclosporine | decreases expression, increases expression | 2 |
| dicrotophos | decreases expression | 1 |
| pirinixic acid | increases activity, affects binding, decreases expression | 1 |
| bisphenol A | decreases expression | 1 |
| sodium arsenite | increases expression, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| MT19c compound | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Air Pollutants, Occupational | decreases expression | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Nickel | decreases expression | 1 |
| Ozone | increases abundance, affects expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Valproic Acid | increases expression | 1 |
| Vitamin E | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 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.