TRAPPC1
gene geneOn this page
Also known as MUM2BET5
Summary
TRAPPC1 (trafficking protein particle complex subunit 1, HGNC:19894) is a protein-coding gene on chromosome 17p13.1, encoding Trafficking protein particle complex subunit 1 (Q9Y5R8). May play a role in vesicular transport from endoplasmic reticulum to Golgi. It is a common-essential gene (DepMap: required in 98.7% of cancer cell lines).
This gene product plays a role in vesicular transport of proteins to the Golgi apparatus from the endoplasmic reticulum. The encoded protein is a component of the multisubunit transport protein particle (TRAPP) complex. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 58485 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 18 total
- Cancer dependency (DepMap): dependent in 98.7% of screened cell lines (common-essential)
- MANE Select transcript:
NM_021210
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19894 |
| Approved symbol | TRAPPC1 |
| Name | trafficking protein particle complex subunit 1 |
| Location | 17p13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MUM2, BET5 |
| Ensembl gene | ENSG00000170043 |
| Ensembl biotype | protein_coding |
| OMIM | 610969 |
| Entrez | 58485 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 9 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron
ENST00000303731, ENST00000540486, ENST00000571739, ENST00000571947, ENST00000572656, ENST00000573989, ENST00000575639, ENST00000924843, ENST00000924844, ENST00000924845, ENST00000968005, ENST00000968006
RefSeq mRNA: 2 — MANE Select: NM_021210
NM_001166621, NM_021210
CCDS: CCDS11125
Canonical transcript exons
ENST00000303731 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001144941 | 7931506 | 7931576 |
| ENSE00001303169 | 7931731 | 7931946 |
| ENSE00002679263 | 7930349 | 7930734 |
| ENSE00003520520 | 7931011 | 7931149 |
Expression profiles
Bgee: expression breadth ubiquitous, 243 present calls, max score 99.10.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 92.0771 / max 584.3812, expressed in 1824 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 164341 | 85.8658 | 1824 |
| 164340 | 2.1490 | 1278 |
| 164336 | 1.2246 | 787 |
| 164338 | 1.1323 | 757 |
| 164339 | 0.8461 | 581 |
| 164337 | 0.8437 | 576 |
| 164342 | 0.0155 | 5 |
Top tissues by expression
254 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| monocyte | CL:0000576 | 99.10 | gold quality |
| leukocyte | CL:0000738 | 99.08 | gold quality |
| stromal cell of endometrium | CL:0002255 | 98.93 | gold quality |
| granulocyte | CL:0000094 | 98.68 | gold quality |
| islet of Langerhans | UBERON:0000006 | 98.16 | gold quality |
| right adrenal gland | UBERON:0001233 | 98.09 | gold quality |
| prefrontal cortex | UBERON:0000451 | 98.07 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 98.06 | gold quality |
| right coronary artery | UBERON:0001625 | 98.03 | gold quality |
| bone marrow cell | CL:0002092 | 98.02 | gold quality |
| adenohypophysis | UBERON:0002196 | 98.01 | gold quality |
| right lung | UBERON:0002167 | 97.97 | gold quality |
| left adrenal gland | UBERON:0001234 | 97.91 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 97.91 | gold quality |
| right frontal lobe | UBERON:0002810 | 97.88 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 97.88 | gold quality |
| left coronary artery | UBERON:0001626 | 97.87 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 97.85 | gold quality |
| apex of heart | UBERON:0002098 | 97.84 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 97.79 | gold quality |
| vermiform appendix | UBERON:0001154 | 97.76 | gold quality |
| thoracic aorta | UBERON:0001515 | 97.73 | gold quality |
| ascending aorta | UBERON:0001496 | 97.71 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 97.71 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 97.70 | gold quality |
| coronary artery | UBERON:0001621 | 97.69 | gold quality |
| hypothalamus | UBERON:0001898 | 97.68 | gold quality |
| metanephros cortex | UBERON:0010533 | 97.66 | gold quality |
| lower esophagus | UBERON:0013473 | 97.61 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 97.61 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 17.62 |
| E-CURD-88 | yes | 7.58 |
| E-MTAB-10042 | yes | 6.96 |
| E-MTAB-7316 | yes | 6.92 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
27 targeting TRAPPC1, 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-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
| HSA-MIR-548BC | 99.82 | 70.61 | 3524 |
| HSA-MIR-548E-3P | 99.82 | 70.59 | 3514 |
| HSA-MIR-548F-3P | 99.82 | 70.59 | 3540 |
| HSA-MIR-548A-3P | 99.76 | 70.58 | 3524 |
| HSA-MIR-561-3P | 99.64 | 70.90 | 3647 |
| HSA-MIR-1249-5P | 99.61 | 66.55 | 2049 |
| HSA-MIR-1207-5P | 99.49 | 69.11 | 2983 |
| HSA-MIR-6722-3P | 99.45 | 67.62 | 1919 |
| HSA-MIR-940 | 99.37 | 66.14 | 2064 |
| HSA-MIR-6808-5P | 99.31 | 66.23 | 2150 |
| HSA-MIR-6893-5P | 99.31 | 66.25 | 2119 |
| HSA-MIR-4279 | 99.19 | 66.70 | 2437 |
| HSA-MIR-4504 | 99.10 | 69.14 | 1328 |
| HSA-MIR-4763-3P | 99.10 | 67.83 | 2649 |
| HSA-MIR-4324 | 99.04 | 70.14 | 1569 |
| HSA-MIR-1909-3P | 99.03 | 66.56 | 1662 |
| HSA-MIR-6846-5P | 98.81 | 65.86 | 1121 |
| HSA-MIR-4778-5P | 97.96 | 68.06 | 1634 |
| HSA-MIR-4715-5P | 97.62 | 67.47 | 506 |
| HSA-MIR-296-5P | 97.61 | 64.02 | 851 |
| HSA-MIR-1236-5P | 96.62 | 66.38 | 856 |
| HSA-MIR-4693-3P | 95.23 | 65.92 | 735 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 98.7% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 2)
- This paper studies human as well as yeast TRAPP subunits. (PMID:11805826)
- Mum2 binds to the alpha1-alpha2 loop of the Bet3-Tpc6B heterodimer. (PMID:16828797)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | trappc1 | ENSDARG00000039005 |
| mus_musculus | Trappc1 | ENSMUSG00000049299 |
| rattus_norvegicus | Trappc1 | ENSRNOG00000037627 |
| drosophila_melanogaster | Bet5 | FBGN0260860 |
| caenorhabditis_elegans | WBGENE00077643 |
Paralogs (1): TRAPPC4 (ENSG00000196655)
Protein
Protein identifiers
Trafficking protein particle complex subunit 1 — Q9Y5R8 (reviewed: Q9Y5R8)
Alternative names: BET5 homolog, Multiple myeloma protein 2
All UniProt accessions (4): Q9Y5R8, I3L1R8, I3L3S0, I3L3V5
UniProt curated annotations — full annotation on UniProt →
Function. May play a role in vesicular transport from endoplasmic reticulum to Golgi.
Subunit / interactions. Part of the multisubunit transport protein particle (TRAPP) complex. The heterodimer TRAPPC6B-TRAPPC3 interacts with TRAPPC1 likely providing a core for TRAPP complex formation.
Subcellular location. Golgi apparatus. cis-Golgi network. Endoplasmic reticulum.
Similarity. Belongs to the TRAPP small subunits family. BET5 subfamily.
RefSeq proteins (2): NP_001160093, NP_067033* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007233 | TRAPPC | Family |
| IPR011012 | Longin-like_dom_sf | Homologous_superfamily |
Pfam: PF04099
UniProt features (2 total): chain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y5R8-F1 | 95.64 | 0.96 |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-204005 | COPII-mediated vesicle transport |
| R-HSA-6798695 | Neutrophil degranulation |
| R-HSA-8876198 | RAB GEFs exchange GTP for GDP on RABs |
MSigDB gene sets: 185 (showing top):
ATF_B, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_VESICLE_LOCALIZATION, GOCC_SECRETORY_GRANULE, GOBP_VESICLE_ORGANIZATION, GOBP_VESICLE_TARGETING, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, CHANDRAN_METASTASIS_DN, GOLDRATH_ANTIGEN_RESPONSE, RICKMAN_METASTASIS_DN, GOBP_ENDOPLASMIC_RETICULUM_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT, ELK1_01, NOUZOVA_TRETINOIN_AND_H4_ACETYLATION, GOBP_MEMBRANE_ORGANIZATION
GO Biological Process (5): endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), vesicle coat assembly (GO:0006901), COPII vesicle coat assembly (GO:0048208), obsolete vesicle tethering (GO:0099022), vesicle-mediated transport (GO:0016192)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (9): extracellular region (GO:0005576), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), cytosol (GO:0005829), TRAPP complex (GO:0030008), azurophil granule lumen (GO:0035578), TRAPPII protein complex (GO:1990071), TRAPPIII protein complex (GO:1990072), Golgi apparatus (GO:0005794)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| ER to Golgi Anterograde Transport | 1 |
| Innate Immune System | 1 |
| Rab regulation of trafficking | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 4 |
| cellular anatomical structure | 3 |
| endomembrane system | 2 |
| intracellular membrane-bounded organelle | 2 |
| Golgi apparatus | 2 |
| TRAPP complex | 2 |
| intercellular transport | 1 |
| intracellular transport | 1 |
| Golgi vesicle transport | 1 |
| vesicle budding from membrane | 1 |
| vesicle organization | 1 |
| vesicle coat assembly | 1 |
| protein-containing complex assembly | 1 |
| COPII-coated vesicle budding | 1 |
| transport | 1 |
| cellular process | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| vesicle tethering complex | 1 |
| intracellular protein-containing complex | 1 |
| vacuolar lumen | 1 |
| secretory granule lumen | 1 |
| azurophil granule | 1 |
| endosome | 1 |
Protein interactions and networks
STRING
1110 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TRAPPC1 | TRAPPC6A | O75865 | 998 |
| TRAPPC1 | TRAPPC3 | O43617 | 998 |
| TRAPPC1 | TRAPPC2 | P0DI81 | 998 |
| TRAPPC1 | TRAPPC5 | Q8IUR0 | 998 |
| TRAPPC1 | TRAPPC4 | Q9Y296 | 991 |
| TRAPPC1 | TRAPPC8 | Q9Y2L5 | 966 |
| TRAPPC1 | TRAPPC9 | Q96Q05 | 896 |
| TRAPPC1 | RAB1A | P11476 | 888 |
| TRAPPC1 | TRAPPC10 | P48553 | 838 |
| TRAPPC1 | TRAPPC13 | A5PLN9 | 804 |
| TRAPPC1 | TRAPPC12 | Q8WVT3 | 768 |
| TRAPPC1 | TRAPPC11 | Q7Z392 | 751 |
| TRAPPC1 | RYR2 | Q92736 | 717 |
| TRAPPC1 | TRAPPC2L | Q9UL33 | 717 |
| TRAPPC1 | USO1 | O60763 | 645 |
IntAct
66 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TRAPPC6A | TRAPPC3 | psi-mi:“MI:0914”(association) | 0.850 |
| TRAPPC3 | TRAPPC1 | psi-mi:“MI:0915”(physical association) | 0.840 |
| RUFY4 | NDC80 | psi-mi:“MI:0914”(association) | 0.830 |
| RAB3IP | TRAPPC3 | psi-mi:“MI:0914”(association) | 0.700 |
| KANK4 | TRAPPC3 | psi-mi:“MI:0914”(association) | 0.640 |
| TRAPPC2L | TRAPPC13 | psi-mi:“MI:0914”(association) | 0.560 |
| TRAPPC1 | TRAPPC13 | psi-mi:“MI:0914”(association) | 0.530 |
| BCL2L14 | CHEK1 | psi-mi:“MI:0914”(association) | 0.530 |
| CABS1 | TRAPPC10 | psi-mi:“MI:0914”(association) | 0.530 |
| Trappc11 | TRAPPC3 | psi-mi:“MI:0914”(association) | 0.350 |
| Trappc8 | TRAPPC13 | psi-mi:“MI:0914”(association) | 0.350 |
| TRAPPC3 | TRAPPC6B | psi-mi:“MI:0914”(association) | 0.350 |
| BCL2L14 | psi-mi:“MI:0914”(association) | 0.350 | |
| TAFA3 | FUOM | psi-mi:“MI:0914”(association) | 0.350 |
| TRAPPC13 | psi-mi:“MI:0914”(association) | 0.350 | |
| TRAPPC5 | TRAPPC13 | psi-mi:“MI:0914”(association) | 0.350 |
| TBC1D14 | psi-mi:“MI:0914”(association) | 0.350 | |
| TRAPPC1 | TRAPPC13 | psi-mi:“MI:0914”(association) | 0.350 |
| KANK4 | psi-mi:“MI:0914”(association) | 0.350 | |
| CABS1 | psi-mi:“MI:0914”(association) | 0.350 | |
| STMN4 | psi-mi:“MI:0914”(association) | 0.350 | |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| ITM2B | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| TRAPPC11 | TRAPPC13 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (120): TRAPPC1 (Affinity Capture-MS), TRAPPC1 (Affinity Capture-MS), TRAPPC1 (Affinity Capture-MS), TRAPPC1 (Affinity Capture-MS), TRAPPC1 (Affinity Capture-MS), TRAPPC12 (Affinity Capture-MS), TRAPPC1 (Affinity Capture-MS), TRAPPC1 (Affinity Capture-MS), TRAPPC11 (Affinity Capture-MS), TRAPPC6A (Affinity Capture-MS), TRAPPC6B (Affinity Capture-MS), TRAPPC13 (Affinity Capture-MS), TRAPPC4 (Affinity Capture-MS), TRAPPC8 (Affinity Capture-MS), C7orf43 (Affinity Capture-MS)
ESM2 similar proteins: A0JN39, D2SW95, O08810, O22715, O23140, P23514, P35602, P35603, P49661, P53618, P84091, P84092, P91926, Q0DJ99, Q0DJA0, Q15029, Q15437, Q17QI1, Q29N38, Q2KMM2, Q3SZN2, Q3ZC13, Q4R706, Q54HS9, Q5F3X4, Q5NCF2, Q5NVF7, Q5R4A0, Q5R5G2, Q5R922, Q5ZIA5, Q5ZK03, Q5ZL57, Q5ZMP6, Q66HV4, Q6NWK2, Q6P856, Q7QG73, Q7ZVX6, Q7ZW98
Diamond homologs: Q03630, Q17QI1, Q2KMM2, Q557G3, Q5NCF2, Q9UT70, Q9Y5R8, Q2TBL9, Q5R9J9, Q69BT7, Q9ES56, Q9Y296, O43041, Q54UU1
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| TRAPPC1 | “form complex” | “TRAPP III complex, TRAPPC2 variant” | binding |
| TRAPPC1 | “form complex” | “TRAPP III complex, TRAPPC2B variant” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 51 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 |
|---|---|---|---|
| RAB GEFs exchange GTP for GDP on RABs | 13 | 47.5× | 6e-17 |
| COPII-mediated vesicle transport | 9 | 43.2× | 5e-11 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| obsolete vesicle tethering | 11 | 259.6× | 2e-23 |
| COPII vesicle coat assembly | 7 | 117.0× | 8e-12 |
| endoplasmic reticulum to Golgi vesicle-mediated transport | 12 | 38.8× | 1e-14 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
18 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 12 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
506 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:7930732:CAG:C | acceptor_gain | 1.0000 |
| 17:7930735:C:CC | acceptor_gain | 1.0000 |
| 17:7931006:CTGA:C | donor_loss | 1.0000 |
| 17:7931007:TGA:T | donor_loss | 1.0000 |
| 17:7931008:GACC:G | donor_loss | 1.0000 |
| 17:7931009:A:AC | donor_gain | 1.0000 |
| 17:7931009:A:AG | donor_loss | 1.0000 |
| 17:7931010:C:CC | donor_gain | 1.0000 |
| 17:7931010:CCG:C | donor_gain | 1.0000 |
| 17:7931010:CCGCA:C | donor_gain | 1.0000 |
| 17:7931014:A:AC | donor_gain | 1.0000 |
| 17:7931015:C:CC | donor_gain | 1.0000 |
| 17:7931146:CTTC:C | acceptor_gain | 1.0000 |
| 17:7931147:TTC:T | acceptor_gain | 1.0000 |
| 17:7931148:TC:T | acceptor_gain | 1.0000 |
| 17:7931149:CC:C | acceptor_gain | 1.0000 |
| 17:7931150:C:CC | acceptor_gain | 1.0000 |
| 17:7931150:CTGC:C | acceptor_loss | 1.0000 |
| 17:7931475:T:TA | donor_gain | 1.0000 |
| 17:7931478:T:TA | donor_gain | 1.0000 |
| 17:7931486:T:TA | donor_gain | 1.0000 |
| 17:7931504:A:AC | donor_gain | 1.0000 |
| 17:7931505:C:CC | donor_gain | 1.0000 |
| 17:7931505:CATGT:C | donor_gain | 1.0000 |
| 17:7931732:T:TA | donor_gain | 1.0000 |
| 17:7931735:T:TA | donor_gain | 1.0000 |
| 17:7930730:TACAG:T | acceptor_gain | 0.9900 |
| 17:7930733:AGC:A | acceptor_loss | 0.9900 |
| 17:7930734:GC:G | acceptor_loss | 0.9900 |
| 17:7930736:T:G | acceptor_loss | 0.9900 |
AlphaMissense
943 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:7931557:C:T | G40E | 1.000 |
| 17:7931558:C:G | G40R | 1.000 |
| 17:7931558:C:T | G40R | 1.000 |
| 17:7931566:A:G | L37P | 1.000 |
| 17:7930643:A:T | V134D | 0.999 |
| 17:7931063:G:A | T86I | 0.999 |
| 17:7931072:A:T | V83D | 0.999 |
| 17:7931108:A:G | L71P | 0.999 |
| 17:7931545:G:A | S44F | 0.999 |
| 17:7931557:C:A | G40V | 0.999 |
| 17:7931558:C:A | G40W | 0.999 |
| 17:7931767:C:A | W21C | 0.999 |
| 17:7931767:C:G | W21C | 0.999 |
| 17:7931769:A:G | W21R | 0.999 |
| 17:7931769:A:T | W21R | 0.999 |
| 17:7931792:C:A | G13V | 0.999 |
| 17:7931792:C:T | G13E | 0.999 |
| 17:7931803:A:C | F9L | 0.999 |
| 17:7931803:A:T | F9L | 0.999 |
| 17:7931804:A:G | F9S | 0.999 |
| 17:7931805:A:G | F9L | 0.999 |
| 17:7931822:A:T | V3D | 0.999 |
| 17:7931065:A:C | N85K | 0.998 |
| 17:7931065:A:T | N85K | 0.998 |
| 17:7931108:A:T | L71H | 0.998 |
| 17:7931115:A:C | Y69D | 0.998 |
| 17:7931123:G:A | T66I | 0.998 |
| 17:7931129:A:G | F64S | 0.998 |
| 17:7931530:A:T | V49D | 0.998 |
| 17:7931537:A:G | S47P | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000040924 (17:7933149 C>A,T), RS1000162751 (17:7932392 C>T), RS1000433162 (17:7932804 G>C,T), RS1001142904 (17:7930848 A>T), RS1002822579 (17:7930937 T>C), RS1003827624 (17:7932260 G>A,T), RS1005044258 (17:7932000 AG>A,AGG), RS1005971911 (17:7930180 G>A,C), RS1006045394 (17:7930521 G>A,T), RS1006218020 (17:7933843 G>A), RS1006718792 (17:7930479 G>A), RS1006957716 (17:7930247 A>G), RS1007909181 (17:7931405 C>A,G,T), RS1007927501 (17:7933651 T>C), RS1008004332 (17:7931745 T>C)
Disease associations
OMIM: gene MIM:610969 | 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
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases methylation, affects expression, increases expression | 4 |
| sodium arsenite | increases expression, decreases expression, increases abundance | 3 |
| Cyclosporine | decreases expression, decreases methylation | 3 |
| Tobacco Smoke Pollution | decreases expression, increases expression | 2 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 2 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| abrine | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Lipopolysaccharides | affects response to substance, affects expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tunicamycin | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | 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.