TM9SF2
gene geneOn this page
Also known as P76Lnc-PCIR
Summary
TM9SF2 (transmembrane 9 superfamily member 2, HGNC:11865) is a protein-coding gene on chromosome 13q32.3, encoding Transmembrane 9 superfamily member 2 (Q99805). In the intracellular compartments, may function as a channel or small molecule transporter.
This gene encodes a member of the transmembrane 9 superfamily. The encoded 76 kDa protein localizes to early endosomes in human cells. The encoded protein possesses a conserved and highly hydrophobic C-terminal domain which contains nine transmembrane domains. The protein may play a role in small molecule transport or act as an ion channel. A pseudogene associated with this gene is located on the X chromosome.
Source: NCBI Gene 9375 — RefSeq curated summary.
At a glance
- GWAS associations: 10
- Clinical variants (ClinVar): 71 total
- Druggable target: yes
- MANE Select transcript:
NM_004800
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11865 |
| Approved symbol | TM9SF2 |
| Name | transmembrane 9 superfamily member 2 |
| Location | 13q32.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | P76, Lnc-PCIR |
| Ensembl gene | ENSG00000125304 |
| Ensembl biotype | protein_coding |
| OMIM | 604678 |
| Entrez | 9375 |
Gene structure
Transcript identifiers
Ensembl transcripts: 20 — 16 protein_coding, 4 protein_coding_CDS_not_defined
ENST00000376387, ENST00000463709, ENST00000466555, ENST00000626308, ENST00000627052, ENST00000642146, ENST00000642475, ENST00000865264, ENST00000865265, ENST00000865266, ENST00000865267, ENST00000930902, ENST00000930903, ENST00000951398, ENST00000951399, ENST00000951400, ENST00000951401, ENST00000951402, ENST00000951403, ENST00000951404
RefSeq mRNA: 1 — MANE Select: NM_004800
NM_004800
CCDS: CCDS9493
Canonical transcript exons
ENST00000376387 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000514825 | 99541559 | 99541667 |
| ENSE00000685722 | 99539446 | 99539557 |
| ENSE00000685729 | 99540714 | 99540793 |
| ENSE00000685735 | 99555536 | 99555647 |
| ENSE00000853929 | 99537739 | 99537863 |
| ENSE00000853930 | 99546985 | 99547104 |
| ENSE00000853931 | 99549165 | 99549222 |
| ENSE00000853932 | 99552167 | 99552326 |
| ENSE00000853933 | 99554304 | 99554455 |
| ENSE00000853934 | 99559363 | 99559534 |
| ENSE00001470453 | 99501472 | 99501777 |
| ENSE00001943947 | 99562691 | 99564048 |
| ENSE00003517797 | 99536608 | 99536737 |
| ENSE00003529242 | 99543863 | 99543995 |
| ENSE00003530956 | 99520036 | 99520129 |
| ENSE00003545195 | 99517614 | 99517681 |
| ENSE00003680503 | 99529467 | 99529594 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 99.08.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 97.0357 / max 574.8540, expressed in 1825 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 135832 | 38.7585 | 1820 |
| 135831 | 31.7446 | 1811 |
| 135830 | 12.4535 | 1775 |
| 135829 | 9.7895 | 1767 |
| 135828 | 3.2529 | 1563 |
| 135833 | 1.0244 | 628 |
| 135834 | 0.0123 | 3 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of sigmoid colon | UBERON:0004993 | 99.08 | gold quality |
| bronchial epithelial cell | CL:0002328 | 98.95 | gold quality |
| colonic mucosa | UBERON:0000317 | 98.87 | gold quality |
| jejunal mucosa | UBERON:0000399 | 98.72 | gold quality |
| corpus epididymis | UBERON:0004359 | 98.65 | gold quality |
| rectum | UBERON:0001052 | 98.36 | gold quality |
| duodenum | UBERON:0002114 | 98.35 | gold quality |
| islet of Langerhans | UBERON:0000006 | 98.30 | gold quality |
| ileal mucosa | UBERON:0000331 | 98.30 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 98.30 | gold quality |
| bronchus | UBERON:0002185 | 98.25 | gold quality |
| upper leg skin | UBERON:0004262 | 98.07 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 98.05 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 97.98 | gold quality |
| caput epididymis | UBERON:0004358 | 97.94 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 97.93 | gold quality |
| adult organism | UBERON:0007023 | 97.88 | gold quality |
| parotid gland | UBERON:0001831 | 97.84 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 97.81 | gold quality |
| monocyte | CL:0000576 | 97.80 | gold quality |
| skin of hip | UBERON:0001554 | 97.80 | gold quality |
| adrenal tissue | UBERON:0018303 | 97.77 | gold quality |
| mononuclear cell | CL:0000842 | 97.75 | gold quality |
| placenta | UBERON:0001987 | 97.75 | gold quality |
| urethra | UBERON:0000057 | 97.73 | gold quality |
| leukocyte | CL:0000738 | 97.69 | gold quality |
| oral cavity | UBERON:0000167 | 97.67 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 97.67 | gold quality |
| sperm | CL:0000019 | 97.66 | gold quality |
| body of pancreas | UBERON:0001150 | 97.64 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-112 | yes | 14.67 |
| E-MTAB-7303 | no | 470.35 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AP1, NFKB
miRNA regulators (miRDB)
101 targeting TM9SF2, 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-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-6888-3P | 99.97 | 65.95 | 1170 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-4525 | 99.94 | 64.38 | 675 |
| HSA-MIR-5010-5P | 99.94 | 64.11 | 705 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-10523-5P | 99.91 | 69.22 | 2038 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
Literature-anchored findings (GeneRIF, showing 5)
- Among the genes enriched in this screening, the authors found that TM9SF2 is critical for N-sulfation of heparan sulfate and therefore for chikungunya virus infection because it is involved in the proper localization and stability of NDST1. (PMID:28404855)
- TM9SF2 is identified as novel oncogene in colorectal cancer (CRC). TM9SF2 is potentially regulated by the Ets-family transcription factor ELF1, and TM9SF2 is upregulated in approximately one-third of human CRC samples. Transcriptome analysis of TM9SF2 knockout cells revealed a potential role for TM9SF2 in cell cycle progression, oxidative phosphorylation, and ceramide signaling. (PMID:30333512)
- Study validated EXT1, TM9SF2, and TMED10 as important host factors for vaccinia virus infection. (PMID:30996093)
- LINC01232 exerts oncogenic activities in pancreatic adenocarcinoma via regulation of TM9SF2. (PMID:31541081)
- Identification of sulfur metabolism-related gene signature in osteoarthritis and TM9SF2’s sustenance effect on M2 macrophages’ phagocytic activity. (PMID:38218914)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tm9sf2 | ENSDARG00000003866 |
| mus_musculus | Tm9sf2 | ENSMUSG00000025544 |
| rattus_norvegicus | Tm9sf2 | ENSRNOG00000012751 |
| drosophila_melanogaster | TM9SF2 | FBGN0032880 |
Paralogs (3): TM9SF3 (ENSG00000077147), TM9SF1 (ENSG00000100926), TM9SF4 (ENSG00000101337)
Protein
Protein identifiers
Transmembrane 9 superfamily member 2 — Q99805 (reviewed: Q99805)
Alternative names: p76
All UniProt accessions (3): Q99805, A0A024QYR8, A0A2R8Y4S7
UniProt curated annotations — full annotation on UniProt →
Function. In the intracellular compartments, may function as a channel or small molecule transporter.
Subcellular location. Endosome membrane. Golgi outpost. Cytoplasm. Cytoskeleton. Microtubule organizing center.
Tissue specificity. Ubiquitously expressed. Especially abundant in pancreas, highly expressed in kidney, lower levels in heart, brain, skeletal muscle and placenta. Lowest expression in lung and liver.
Similarity. Belongs to the nonaspanin (TM9SF) (TC 8.A.68) family.
RefSeq proteins (1): NP_004791* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004240 | EMP70 | Family |
Pfam: PF02990
UniProt features (21 total): topological domain 10, transmembrane region 9, signal peptide 1, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q99805-F1 | 84.95 | 0.48 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 203 (showing top):
GOBP_GLYCOLIPID_BIOSYNTHETIC_PROCESS, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, CHEOK_RESPONSE_TO_MERCAPTOPURINE_AND_LD_MTX_UP, MORF_HDAC2, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_REGULATION_OF_GLYCOPROTEIN_METABOLIC_PROCESS, ONKEN_UVEAL_MELANOMA_UP, GOBP_SPHINGOLIPID_METABOLIC_PROCESS, GOBP_AMIDE_METABOLIC_PROCESS, GOBP_HEPARAN_SULFATE_PROTEOGLYCAN_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_GLYCOSPHINGOLIPID_BIOSYNTHETIC_PROCESS, MORF_PRKDC, GOBP_LIPID_METABOLIC_PROCESS
GO Biological Process (4): ceramide metabolic process (GO:0006672), glycosphingolipid biosynthetic process (GO:0006688), regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010908), protein localization to membrane (GO:0072657)
GO Molecular Function (0):
GO Cellular Component (9): endosome (GO:0005768), Golgi apparatus (GO:0005794), microtubule organizing center (GO:0005815), plasma membrane (GO:0005886), endosome membrane (GO:0010008), membrane (GO:0016020), extracellular exosome (GO:0070062), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| endomembrane system | 2 |
| sphingolipid metabolic process | 1 |
| glycosphingolipid metabolic process | 1 |
| glycolipid biosynthetic process | 1 |
| sphingolipid biosynthetic process | 1 |
| heparan sulfate proteoglycan biosynthetic process | 1 |
| regulation of protein O-linked glycosylation | 1 |
| intracellular protein localization | 1 |
| localization within membrane | 1 |
| cytoplasmic vesicle | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| microtubule cytoskeleton | 1 |
| membrane | 1 |
| cell periphery | 1 |
| endosome | 1 |
| cytoplasmic vesicle membrane | 1 |
| bounding membrane of organelle | 1 |
| extracellular vesicle | 1 |
| intracellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
942 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TM9SF2 | LAPTM4A | Q15012 | 661 |
| TM9SF2 | CLEC19A | Q6UXS0 | 624 |
| TM9SF2 | TMEM165 | Q9HC07 | 607 |
| TM9SF2 | SPTSSA | Q969W0 | 567 |
| TM9SF2 | B4GALT5 | O43286 | 563 |
| TM9SF2 | UNC50 | Q53HI1 | 545 |
| TM9SF2 | A4GALT | Q9NPC4 | 496 |
| TM9SF2 | FAM234B | A2RU67 | 494 |
| TM9SF2 | RIN2 | Q8WYP3 | 490 |
| TM9SF2 | CLYBL | Q8N0X4 | 461 |
| TM9SF2 | SPTLC1 | O15269 | 453 |
| TM9SF2 | VPS54 | Q9P1Q0 | 452 |
| TM9SF2 | GPR108 | Q9NPR9 | 447 |
| TM9SF2 | UGCG | Q16739 | 443 |
| TM9SF2 | VPS51 | Q9UID3 | 438 |
IntAct
74 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IFT70B | IFT56 | psi-mi:“MI:0914”(association) | 0.790 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| TACR1 | ATP5PB | psi-mi:“MI:0914”(association) | 0.640 |
| CFTR | HAX1 | psi-mi:“MI:0914”(association) | 0.610 |
| SLC22A9 | GPR89A | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM9 | ESYT2 | psi-mi:“MI:0914”(association) | 0.530 |
| NCEH1 | CLGN | psi-mi:“MI:0914”(association) | 0.530 |
| LPAR1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| sseJ | AGPS | psi-mi:“MI:0914”(association) | 0.460 |
| TMEM18 | TM9SF2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TM9SF2 | HTR2C | psi-mi:“MI:0915”(physical association) | 0.370 |
| TM9SF2 | SMAD4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ESYT2 | psi-mi:“MI:0914”(association) | 0.350 | |
| MAPK6 | psi-mi:“MI:0914”(association) | 0.350 | |
| ORF47 | ZZEF1 | psi-mi:“MI:0914”(association) | 0.350 |
| TSPO | psi-mi:“MI:0914”(association) | 0.350 | |
| Prdm16 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| LRRK2 | psi-mi:“MI:0914”(association) | 0.350 | |
| TMPRSS11B | psi-mi:“MI:0914”(association) | 0.350 | |
| SLC22A9 | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
| P | psi-mi:“MI:0914”(association) | 0.350 | |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (114): TM9SF2 (Affinity Capture-MS), TM9SF2 (Proximity Label-MS), TM9SF2 (Synthetic Lethality), TM9SF2 (Affinity Capture-MS), TM9SF2 (Affinity Capture-MS), TM9SF2 (Affinity Capture-MS), TM9SF2 (Affinity Capture-MS), TM9SF2 (Two-hybrid), TM9SF2 (Affinity Capture-MS), TM9SF2 (Affinity Capture-MS), TM9SF2 (Affinity Capture-MS), TM9SF2 (Affinity Capture-MS), TM9SF2 (Affinity Capture-MS), TM9SF2 (Affinity Capture-MS), TM9SF2 (Affinity Capture-MS)
ESM2 similar proteins: A0A060LAL9, A0A097ZPE6, A0A1I9R3Y5, A2VEI2, A2XVG1, A8B479, A8WQT4, B3H7A9, F4I1L3, G1JSL4, H2E7T7, O22585, O22788, O45228, O64407, O65015, O81270, P10538, P16098, Q0KHU5, Q19337, Q28C60, Q2QRX6, Q43727, Q5QIT3, Q5R8Y6, Q5Z8Y4, Q66HG5, Q6DCK1, Q7FAX1, Q7JW12, Q8CD10, Q8IYU8, Q8VZQ4, Q95PZ2, Q99805, Q99P63, Q9CAB7, Q9CAB8, Q9D5U0
Diamond homologs: A4IFE9, A5D7E2, F4HW17, F4KIB2, O15321, P58021, Q4KLL4, Q54ZW0, Q5R8F1, Q5R8Y6, Q5RDY2, Q66HF2, Q66HG5, Q8BH24, Q8RWW1, Q92544, Q940G0, Q940S0, Q99805, Q9C5N2, Q9C720, Q9DBU0, Q9ET30, Q9FHT4, Q9HD45, Q9LIC2, Q9Y819, Q9ZPS7, F4JRE0, P32802, Q04562, Q55FP0, Q9FYQ8, Q7YTA6
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
71 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 45 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2056 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 13:99501774:CAAG:C | donor_loss | 1.0000 |
| 13:99501775:AAG:A | donor_loss | 1.0000 |
| 13:99501776:AG:A | donor_loss | 1.0000 |
| 13:99501777:GG:G | donor_loss | 1.0000 |
| 13:99501778:G:A | donor_loss | 1.0000 |
| 13:99501779:T:A | donor_loss | 1.0000 |
| 13:99517606:A:AG | acceptor_gain | 1.0000 |
| 13:99517607:T:G | acceptor_gain | 1.0000 |
| 13:99517609:TTCA:T | acceptor_loss | 1.0000 |
| 13:99517611:CAG:C | acceptor_loss | 1.0000 |
| 13:99517612:A:AG | acceptor_gain | 1.0000 |
| 13:99517612:AG:A | acceptor_gain | 1.0000 |
| 13:99517612:AGGCC:A | acceptor_gain | 1.0000 |
| 13:99517613:G:C | acceptor_loss | 1.0000 |
| 13:99517613:G:GA | acceptor_gain | 1.0000 |
| 13:99517613:GG:G | acceptor_gain | 1.0000 |
| 13:99517613:GGCC:G | acceptor_gain | 1.0000 |
| 13:99517613:GGCCG:G | acceptor_gain | 1.0000 |
| 13:99517677:ACAGC:A | donor_gain | 1.0000 |
| 13:99517678:CAGC:C | donor_gain | 1.0000 |
| 13:99517678:CAGCG:C | donor_loss | 1.0000 |
| 13:99517679:AGC:A | donor_gain | 1.0000 |
| 13:99517679:AGCG:A | donor_loss | 1.0000 |
| 13:99517680:GC:G | donor_gain | 1.0000 |
| 13:99517680:GCG:G | donor_gain | 1.0000 |
| 13:99517681:CGT:C | donor_loss | 1.0000 |
| 13:99517682:G:GC | donor_loss | 1.0000 |
| 13:99517682:G:GG | donor_gain | 1.0000 |
| 13:99517683:TAA:T | donor_loss | 1.0000 |
| 13:99520031:CCCA:C | acceptor_loss | 1.0000 |
AlphaMissense
4376 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 13:99520081:T:A | N95K | 1.000 |
| 13:99520081:T:G | N95K | 1.000 |
| 13:99520085:G:C | G97R | 1.000 |
| 13:99520085:G:T | G97C | 1.000 |
| 13:99540732:T:A | W283R | 1.000 |
| 13:99540732:T:C | W283R | 1.000 |
| 13:99540734:G:C | W283C | 1.000 |
| 13:99540734:G:T | W283C | 1.000 |
| 13:99540741:A:G | R286G | 1.000 |
| 13:99540742:G:C | R286T | 1.000 |
| 13:99540742:G:T | R286I | 1.000 |
| 13:99540743:A:C | R286S | 1.000 |
| 13:99540743:A:T | R286S | 1.000 |
| 13:99540744:T:A | W287R | 1.000 |
| 13:99540744:T:C | W287R | 1.000 |
| 13:99540746:G:C | W287C | 1.000 |
| 13:99540746:G:T | W287C | 1.000 |
| 13:99541568:T:A | N306K | 1.000 |
| 13:99541568:T:G | N306K | 1.000 |
| 13:99541627:T:C | L326P | 1.000 |
| 13:99541635:G:C | D329H | 1.000 |
| 13:99541636:A:C | D329A | 1.000 |
| 13:99541636:A:T | D329V | 1.000 |
| 13:99543884:G:C | G347R | 1.000 |
| 13:99543885:G:A | G347D | 1.000 |
| 13:99543887:T:A | W348R | 1.000 |
| 13:99543887:T:C | W348R | 1.000 |
| 13:99543888:G:C | W348S | 1.000 |
| 13:99543889:G:C | W348C | 1.000 |
| 13:99543889:G:T | W348C | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000044409 (13:99560403 A>G), RS1000095799 (13:99525203 G>A), RS1000114447 (13:99561657 T>C), RS1000152260 (13:99505054 T>A,C), RS1000163514 (13:99519953 C>G), RS1000197426 (13:99524431 G>A,C), RS1000286028 (13:99512545 G>A), RS1000358540 (13:99510467 C>A,T), RS1000454223 (13:99559684 C>G,T), RS1000457357 (13:99535925 C>T), RS1000549559 (13:99524898 G>A), RS1000567275 (13:99545975 G>A), RS1000579767 (13:99529647 T>C,G), RS1000631331 (13:99504744 G>A), RS1000633574 (13:99529382 C>A,T)
Disease associations
OMIM: gene MIM:604678 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
10 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001762_113 | Obesity-related traits | 4.000000e-06 |
| GCST003484_6 | Periodontal disease-related phenotype (Socransky) | 1.000000e-08 |
| GCST007798_145 | Asthma | 5.000000e-18 |
| GCST007799_36 | Asthma (adult onset) | 6.000000e-12 |
| GCST007995_42 | Asthma (childhood onset) | 5.000000e-13 |
| GCST008916_6 | Asthma | 4.000000e-13 |
| GCST009391_105 | Metabolite levels | 3.000000e-07 |
| GCST009391_1981 | Metabolite levels | 1.000000e-06 |
| GCST010043_65 | Asthma | 8.000000e-20 |
| GCST90014325_56 | Asthma | 1.000000e-16 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006336 | diastolic blood pressure |
| EFO:0007780 | periodontal measurement |
| EFO:1002011 | adult onset asthma |
| EFO:0010491 | glycocholate measurement |
| EFO:0005058 | tyrosine measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067238 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.93 | Kd | 118.5 | nM | CHEMBL5653589 |
| 6.93 | ED50 | 118.5 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149596: Binding affinity to human TM9SF2 incubated for 45 mins by Kinobead based pull down assay | kd | 0.1185 | uM |
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Acetaminophen | decreases expression | 2 |
| Rotenone | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| deoxynivalenol | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| 2-bromopalmitate | decreases reaction, increases abundance, increases palmitoylation | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| nivalenol | decreases expression | 1 |
| chromium hexavalent ion | increases abundance, 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 |
| abrine | decreases expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Air Pollutants | increases abundance, decreases expression | 1 |
| Bilirubin | decreases expression | 1 |
| Cadmium | increases palmitoylation, decreases reaction, increases abundance | 1 |
| Cannabidiol | decreases expression | 1 |
| Clozapine | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Haloperidol | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Phenobarbital | affects expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Valproic Acid | increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Cadmium Chloride | decreases reaction, increases abundance, increases palmitoylation | 1 |
| Thapsigargin | increases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652638 | Binding | Binding affinity to human TM9SF2 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TS58 | HAP1 TM9SF2 (-) 1 | Cancer cell line | Male |
| CVCL_TS59 | HAP1 TM9SF2 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): childhood onset asthma