TMEM9
gene geneOn this page
Also known as TMEM9A
Summary
TMEM9 (transmembrane protein 9, HGNC:18823) is a protein-coding gene on chromosome 1q32.1, encoding Proton-transporting V-type ATPase complex assembly regulator TMEM9 (Q9P0T7). Transmembrane protein that binds to and facilitates the assembly of lysosomal proton-transporting V-type ATPase (v-ATPase), resulting in enhanced lysosomal acidification and trafficking.
Involved in intracellular pH reduction; positive regulation of canonical Wnt signaling pathway; and proton-transporting V-type ATPase complex assembly. Located in bounding membrane of organelle; intercellular bridge; and mitotic spindle.
Source: NCBI Gene 252839 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 22 total
- MANE Select transcript:
NM_001288565
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18823 |
| Approved symbol | TMEM9 |
| Name | transmembrane protein 9 |
| Location | 1q32.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TMEM9A |
| Ensembl gene | ENSG00000116857 |
| Ensembl biotype | protein_coding |
| OMIM | 616877 |
| Entrez | 252839 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 11 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000367330, ENST00000367332, ENST00000367333, ENST00000367334, ENST00000414605, ENST00000435310, ENST00000455367, ENST00000472411, ENST00000485839, ENST00000495205, ENST00000497582, ENST00000904676, ENST00000904677, ENST00000904678
RefSeq mRNA: 9 — MANE Select: NM_001288565
NM_001288564, NM_001288565, NM_001288566, NM_001288567, NM_001288568, NM_001288569, NM_001288570, NM_001288571, NM_016456
CCDS: CCDS1408, CCDS73001
Canonical transcript exons
ENST00000367330 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001444236 | 201153858 | 201154474 |
| ENSE00001927890 | 201134772 | 201135815 |
| ENSE00003704790 | 201151761 | 201151852 |
| ENSE00003709361 | 201146740 | 201146848 |
| ENSE00003709991 | 201143820 | 201143951 |
Expression profiles
Bgee: expression breadth ubiquitous, 254 present calls, max score 97.46.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.8585 / max 169.1686, expressed in 1782 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 16609 | 16.9629 | 1776 |
| 16608 | 1.2815 | 577 |
| 16605 | 0.8275 | 556 |
| 16611 | 0.4890 | 254 |
| 16610 | 0.1206 | 49 |
| 16612 | 0.1015 | 53 |
| 16606 | 0.0416 | 13 |
| 16607 | 0.0338 | 6 |
Top tissues by expression
255 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| anterior cingulate cortex | UBERON:0009835 | 97.46 | gold quality |
| hypothalamus | UBERON:0001898 | 97.38 | gold quality |
| right adrenal gland | UBERON:0001233 | 97.14 | gold quality |
| right frontal lobe | UBERON:0002810 | 97.14 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 97.14 | gold quality |
| left adrenal gland | UBERON:0001234 | 97.12 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 97.04 | gold quality |
| nucleus accumbens | UBERON:0001882 | 97.03 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 97.02 | gold quality |
| amygdala | UBERON:0001876 | 97.00 | gold quality |
| secondary oocyte | CL:0000655 | 96.95 | gold quality |
| prefrontal cortex | UBERON:0000451 | 96.95 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 96.82 | gold quality |
| oocyte | CL:0000023 | 96.81 | gold quality |
| adrenal cortex | UBERON:0001235 | 96.70 | gold quality |
| putamen | UBERON:0001874 | 96.68 | gold quality |
| caudate nucleus | UBERON:0001873 | 96.64 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 96.60 | gold quality |
| right ovary | UBERON:0002118 | 96.54 | gold quality |
| right uterine tube | UBERON:0001302 | 96.43 | gold quality |
| endocervix | UBERON:0000458 | 96.35 | gold quality |
| neocortex | UBERON:0001950 | 96.31 | gold quality |
| ventricular zone | UBERON:0003053 | 96.30 | gold quality |
| left ovary | UBERON:0002119 | 96.29 | gold quality |
| adrenal gland | UBERON:0002369 | 96.22 | gold quality |
| frontal cortex | UBERON:0001870 | 96.10 | gold quality |
| cerebral cortex | UBERON:0000956 | 95.78 | gold quality |
| forebrain | UBERON:0001890 | 95.76 | gold quality |
| islet of Langerhans | UBERON:0000006 | 95.73 | gold quality |
| metanephros | UBERON:0000081 | 95.70 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 16.56 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
45 targeting TMEM9, 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-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-3941 | 99.86 | 70.54 | 2735 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-5004-5P | 99.68 | 66.63 | 1294 |
| HSA-MIR-3202 | 99.66 | 67.70 | 2737 |
| HSA-MIR-6134 | 99.63 | 65.68 | 1537 |
| HSA-MIR-4516 | 99.61 | 67.78 | 3390 |
| HSA-MIR-24-3P | 99.59 | 69.97 | 1934 |
| HSA-MIR-762 | 99.58 | 66.61 | 1994 |
| HSA-MIR-141-5P | 99.57 | 67.86 | 897 |
| HSA-MIR-4437 | 99.52 | 65.29 | 1266 |
| HSA-MIR-766-5P | 99.47 | 67.91 | 2225 |
| HSA-MIR-4498 | 99.47 | 67.42 | 2360 |
| HSA-MIR-324-3P | 99.26 | 66.31 | 1034 |
| HSA-MIR-149-5P | 99.25 | 67.16 | 1315 |
| HSA-MIR-6815-3P | 99.13 | 68.98 | 1530 |
| HSA-MIR-4434 | 99.10 | 67.01 | 1984 |
| HSA-MIR-5703 | 99.10 | 67.09 | 2053 |
| HSA-MIR-5001-5P | 99.05 | 66.76 | 1972 |
Literature-anchored findings (GeneRIF, showing 11)
- phylogenetically conserved, widely expressed transmembrane protein with a potential, but unknown function in intracellular transport that localizes to lysosomes and late endosomes (PMID:12359240)
- TMEM9B is a key component of inflammatory signaling pathways and suggest that endosomal or lysosomal compartments regulate these pathways (PMID:18541524)
- TMEM9 knockdown by RNA interference resulted in G1 arrest. (PMID:27220462)
- TMEM9 plays a significant role in TNF-alpha-enhanced cytokines (IL-6 and IL-1beta) secretion in LX-2 cells and that the canonical Wnt/beta-catenin signaling pathway is involved in the induction of these cytokine expressions. (PMID:30119033)
- Data show that TMEM9 binds to and facilitates assembly of vacuolar-ATPase (v-ATPase), a vacuolar proton pump, resulting in enhanced vesicular acidification and trafficking. (PMID:30374053)
- TMEM9-activated v-ATPase downregulates APC via lysosomal degradation, which hyperactivates WNT/beta-Catenin signaling. (PMID:32380568)
- TMEM9-v-ATPase Activates Wnt/beta-Catenin Signaling Via APC Lysosomal Degradation for Liver Regeneration and Tumorigenesis. (PMID:32380568)
- Lysosomal TMEM9-LAMTOR4-controlled mTOR signaling integrity is required for mammary tumorigenesis. (PMID:36336962)
- Tumor-Promoting Properties of TMEM9A in Breast Cancer Progression via Activating the Wnt/beta-Catenin Signaling Pathway. (PMID:36596527)
- TMEM9 promotes lung adenocarcinoma progression via activating the MEK/ERK/STAT3 pathway to induce VEGF expression. (PMID:38664392)
- TMEM9 activates Rab9-dependent alternative autophagy through interaction with Beclin1. (PMID:39078420)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tmem9 | ENSDARG00000055757 |
| mus_musculus | Tmem9 | ENSMUSG00000026411 |
| rattus_norvegicus | Tmem9 | ENSRNOG00000010204 |
| drosophila_melanogaster | CG1161 | FBGN0037313 |
| caenorhabditis_elegans | WBGENE00020026 |
Paralogs (1): TMEM9B (ENSG00000175348)
Protein
Protein identifiers
Proton-transporting V-type ATPase complex assembly regulator TMEM9 — Q9P0T7 (reviewed: Q9P0T7)
Alternative names: Dermal papilla-derived protein 4, Transmembrane protein 9
All UniProt accessions (6): Q9P0T7, B1ALM4, B1ALM5, B1ALM7, B1ALM8, F2Z389
UniProt curated annotations — full annotation on UniProt →
Function. Transmembrane protein that binds to and facilitates the assembly of lysosomal proton-transporting V-type ATPase (v-ATPase), resulting in enhanced lysosomal acidification and trafficking. By bringing the v-ATPase accessory protein ATP6AP2 and the v-ATPase subunit ATP6V0D1 together, allows v-ATPase complex formation and activation. TMEM9-controlled vesicular acidification induces hyperactivation of Wnt/beta-catenin signaling, involved in development, tissue homeostasis and tissue regeneration, through lysosomal degradation of adenomatous polyposis coli/APC. In the liver, involved in hepatic regeneration.
Subunit / interactions. Interacts with the v-ATPase accessory protein ATP6AP2 and with the v-ATPase complex subunit ATP6V0D1; these interactions lead to the assembly of the v-ATPase complex.
Subcellular location. Lysosome membrane. Late endosome membrane. Endosome. Multivesicular body membrane.
Tissue specificity. Highly expressed in adrenal gland, thyroid gland, testis, ovary and prostate. Moderate expression in trachea, spinal cord, stomach, colon, small intestine and spleen. Low expression in bone marrow, lymph node, thymus and peripheral blood lymphocytes. Expression is detected in hematopoietic cell lines including those of myeloid, erythroid, B- and T-cell origin.
Post-translational modifications. N-glycosylated.
Domain organisation. The transmembrane domain (TMD) is essential for the interaction with ATP6AP2.
Similarity. Belongs to the TMEM9 family.
RefSeq proteins (9): NP_001275493, NP_001275494, NP_001275495, NP_001275496, NP_001275497, NP_001275498, NP_001275499, NP_001275500, NP_057540 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008853 | TMEM9/TMEM9B | Family |
Pfam: PF05434
UniProt features (12 total): glycosylation site 3, sequence conflict 2, topological domain 2, modified residue 2, signal peptide 1, chain 1, transmembrane region 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9DNX | ELECTRON MICROSCOPY | 2.86 |
| 9DNY | ELECTRON MICROSCOPY | 3.01 |
| 9DNZ | ELECTRON MICROSCOPY | 3.16 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9P0T7-F1 | 73.45 | 0.18 |
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): 137, 144
Glycosylation sites (3): 21, 38, 47
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 134 (showing top):
GOBP_ENDOSOME_ORGANIZATION, GOBP_VACUOLE_ORGANIZATION, GOCC_VACUOLAR_MEMBRANE, GOBP_VESICLE_ORGANIZATION, AAGCCAT_MIR135A_MIR135B, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_CANONICAL_WNT_SIGNALING_PATHWAY, GOBP_VACUOLAR_ACIDIFICATION, GOBP_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, GOBP_REGULATION_OF_PH, GOBP_POSITIVE_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY, GOBP_MONOATOMIC_ION_HOMEOSTASIS
GO Biological Process (6): lysosomal lumen acidification (GO:0007042), protein transport (GO:0015031), regulation of protein catabolic process (GO:0042176), endosomal lumen acidification (GO:0048388), proton-transporting V-type ATPase complex assembly (GO:0070070), positive regulation of canonical Wnt signaling pathway (GO:0090263)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (10): lysosome (GO:0005764), lysosomal membrane (GO:0005765), late endosome (GO:0005770), microtubule cytoskeleton (GO:0015630), multivesicular body membrane (GO:0032585), intercellular bridge (GO:0045171), mitotic spindle (GO:0072686), endosome (GO:0005768), membrane (GO:0016020), late endosome membrane (GO:0031902)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| vacuolar acidification | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| regulation of catabolic process | 1 |
| protein catabolic process | 1 |
| regulation of protein metabolic process | 1 |
| endosome organization | 1 |
| intracellular pH reduction | 1 |
| proton-transporting two-sector ATPase complex assembly | 1 |
| positive regulation of Wnt signaling pathway | 1 |
| canonical Wnt signaling pathway | 1 |
| regulation of canonical Wnt signaling pathway | 1 |
| binding | 1 |
| lytic vacuole | 1 |
| lysosome | 1 |
| lytic vacuole membrane | 1 |
| endosome | 1 |
| cytoskeleton | 1 |
| multivesicular body | 1 |
| late endosome membrane | 1 |
| spindle | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
| late endosome | 1 |
| endosome membrane | 1 |
Protein interactions and networks
STRING
682 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TMEM9 | MINDY3 | Q9H8M7 | 775 |
| TMEM9 | GHITM | Q9H3K2 | 737 |
| TMEM9 | TMEM45A | Q9NWC5 | 711 |
| TMEM9 | COPS7A | Q9UBW8 | 576 |
| TMEM9 | C11orf86 | A6NJI1 | 489 |
| TMEM9 | RBM42 | Q9BTD8 | 475 |
| TMEM9 | MRI1 | Q9BV20 | 449 |
| TMEM9 | ARL6IP5 | O75915 | 431 |
| TMEM9 | TMEM167A | Q8TBQ9 | 397 |
| TMEM9 | TM9SF2 | Q99805 | 396 |
| TMEM9 | DTD2 | Q96FN9 | 393 |
| TMEM9 | FBXL17 | Q9UF56 | 377 |
| TMEM9 | TMEM161A | Q9NX61 | 374 |
| TMEM9 | SHISA4 | Q96DD7 | 374 |
| TMEM9 | WFIKKN2 | Q8TEU8 | 367 |
IntAct
93 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RINT1 | NBAS | psi-mi:“MI:0914”(association) | 0.830 |
| HEATR3 | TMEM186 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| STX6 | TMEM9 | psi-mi:“MI:0915”(physical association) | 0.670 |
| TRDN | TMEM223 | psi-mi:“MI:0914”(association) | 0.640 |
| C2CD2L | TMEM9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CLDN1 | TMEM9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM60 | TMEM9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM9 | PGAP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM140 | TMEM9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CLDN10 | TMEM9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ATP6V0C | TMEM9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPO | TMEM9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NINJ2 | TMEM9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TUSC5 | TMEM9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC30A8 | TMEM9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EMP1 | TMEM9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM9 | ESYT2 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC27A3 | ATP5F1B | psi-mi:“MI:0914”(association) | 0.530 |
| TNFSF8 | LGALS8 | psi-mi:“MI:0914”(association) | 0.530 |
| LGALS3 | PODXL | psi-mi:“MI:0914”(association) | 0.530 |
| CCT8L2 | ACSL4 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC15A4 | PGRMC1 | psi-mi:“MI:0914”(association) | 0.530 |
| NRAS | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.480 |
| TMEM9 | GALNT6 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SORT1 | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.350 |
| P/V/C | PEX1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (279): TMEM9 (Proximity Label-MS), TMEM9 (Proximity Label-MS), TMEM9 (Affinity Capture-MS), TMEM9 (Affinity Capture-MS), TMEM9 (Affinity Capture-RNA), TMEM9 (Affinity Capture-MS), TMEM9 (Affinity Capture-MS), TMEM9 (Proximity Label-MS), TMEM9 (Proximity Label-MS), TMEM9 (Affinity Capture-RNA), TMEM9 (Proximity Label-MS), TMEM9 (Affinity Capture-MS), TMEM9 (Two-hybrid), EMP1 (Two-hybrid), CLDN10 (Two-hybrid)
ESM2 similar proteins: A0A1B0GVV1, A0M8S0, A0M8T1, A0M8U1, A3KN28, A4D7R9, A9JRA0, B1AZA5, E9Q2Z6, P01134, P48030, Q00PJ0, Q07DV5, Q07DW9, Q07DX8, Q07DY8, Q07E08, Q07E45, Q09YH4, Q09YI5, Q09YJ7, Q09YK8, Q09YN2, Q108U3, Q1RLU8, Q2IBA8, Q2IBD0, Q2IBE0, Q2IBE8, Q2PG42, Q2QL86, Q2QLA6, Q2QLB7, Q2QLD7, Q2QLE8, Q2QLG2, Q3KRC4, Q3SXP7, Q5T292, Q68FW3
Diamond homologs: O73698, Q9CR23, Q9JJR8, Q9NQ34, Q9P0T7, Q9VNA4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
22 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 16 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1182 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:201135812:CATC:C | acceptor_gain | 1.0000 |
| 1:201143814:TCTTA:T | donor_loss | 1.0000 |
| 1:201143815:CTTAC:C | donor_loss | 1.0000 |
| 1:201143816:TTAC:T | donor_loss | 1.0000 |
| 1:201143817:TA:T | donor_loss | 1.0000 |
| 1:201143818:A:AC | donor_gain | 1.0000 |
| 1:201143819:C:CC | donor_gain | 1.0000 |
| 1:201143819:C:CT | donor_loss | 1.0000 |
| 1:201143819:CCT:C | donor_gain | 1.0000 |
| 1:201143948:TGAC:T | acceptor_gain | 1.0000 |
| 1:201146844:AGTTG:A | acceptor_gain | 1.0000 |
| 1:201146845:GTTGC:G | acceptor_loss | 1.0000 |
| 1:201146846:TTG:T | acceptor_gain | 1.0000 |
| 1:201146846:TTGC:T | acceptor_loss | 1.0000 |
| 1:201146847:TG:T | acceptor_gain | 1.0000 |
| 1:201146848:GC:G | acceptor_loss | 1.0000 |
| 1:201146849:C:CC | acceptor_gain | 1.0000 |
| 1:201146849:C:T | acceptor_loss | 1.0000 |
| 1:201146850:T:A | acceptor_loss | 1.0000 |
| 1:201135811:GCATC:G | acceptor_gain | 0.9900 |
| 1:201135812:CATCC:C | acceptor_gain | 0.9900 |
| 1:201135813:ATC:A | acceptor_gain | 0.9900 |
| 1:201135814:TC:T | acceptor_gain | 0.9900 |
| 1:201135815:CC:C | acceptor_gain | 0.9900 |
| 1:201135816:C:CA | acceptor_loss | 0.9900 |
| 1:201135816:C:CC | acceptor_gain | 0.9900 |
| 1:201135817:T:C | acceptor_loss | 0.9900 |
| 1:201135818:G:C | acceptor_gain | 0.9900 |
| 1:201135821:G:GC | acceptor_gain | 0.9900 |
| 1:201143807:AAAGC:A | donor_gain | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000204387 (1:201138097 A>C,G), RS1000274154 (1:201159228 T>C), RS1000317074 (1:201147093 C>A), RS1000344153 (1:201147941 A>C), RS1000418202 (1:201153165 G>A), RS1000424324 (1:201153023 A>G), RS1000591259 (1:201159781 ACT>A), RS1000763948 (1:201151380 A>G), RS1000861338 (1:201172490 T>C), RS1000868453 (1:201171322 C>T), RS1000952616 (1:201164953 T>C), RS1000998227 (1:201138563 A>T), RS1001008849 (1:201157594 A>G), RS1001207594 (1:201165806 G>A), RS1001217589 (1:201152401 T>C,G)
Disease associations
OMIM: gene MIM:616877 | 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 |
|---|---|---|
| GCST005212_6 | Asthma | 2.000000e-06 |
| GCST009391_1089 | Metabolite levels | 5.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010543 | uridine diphosphate galactose measurement |
| EFO:0010544 | uridine diphosphate glucose measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 1 |
| manganese chloride | increases expression, affects cotreatment, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acetaminophen | affects response to substance | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Cisplatin | increases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Hydralazine | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Lead | affects expression | 1 |
| Manganese | affects cotreatment, increases abundance, increases expression | 1 |
| Plant Extracts | decreases expression, affects cotreatment | 1 |
| Thiram | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Cyclosporine | decreases methylation | 1 |
| Cadmium Chloride | increases abundance, increases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 embryonic stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E2VX | H9 AAVS1-TRE3G-NGN2 Flag-EEA1 TMEM9-/- | Embryonic stem cell | Female |
| CVCL_E2VY | H9 AAVS1-TRE3G-NGN2 Flag-EEA1 TMEM9-/-; TMEM9B-/- | Embryonic stem cell | 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.