TOM1L2
gene geneOn this page
Summary
TOM1L2 (target of myb1 like 2 membrane trafficking protein, HGNC:11984) is a protein-coding gene on chromosome 17p11.2, encoding TOM1-like protein 2 (Q6ZVM7). Acts as a MYO6/Myosin VI adapter protein that targets myosin VI to endocytic structures.
This gene belongs to a small gene family whose members have an N-terminal VHS domain followed by a GAT domain; domains which typically participate in vesicular trafficking. The canonical protein encoded by this gene also has a C-terminal clathrin binding motif. This protein has been shown to interact with Tollip, clathrin and ubiquitin and is thought to play a role in endosomal sorting. This gene resides in the 3.7 Mb deletion of chromosome region 17p11.2 that is associated with Smith-Magenis syndrome. Alternative splicing results in multiple transcript variants encoding distinct proteins.
Source: NCBI Gene 146691 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 89 total
- MANE Select transcript:
NM_001082968
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11984 |
| Approved symbol | TOM1L2 |
| Name | target of myb1 like 2 membrane trafficking protein |
| Location | 17p11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000175662 |
| Ensembl biotype | protein_coding |
| OMIM | 615519 |
| Entrez | 146691 |
Gene structure
Transcript identifiers
Ensembl transcripts: 39 — 35 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000318094, ENST00000379504, ENST00000395739, ENST00000468944, ENST00000478943, ENST00000486413, ENST00000535933, ENST00000537091, ENST00000540946, ENST00000542206, ENST00000577517, ENST00000577794, ENST00000579586, ENST00000581396, ENST00000890524, ENST00000890525, ENST00000890527, ENST00000890528, ENST00000890532, ENST00000890534, ENST00000890535, ENST00000890537, ENST00000890538, ENST00000890539, ENST00000890541, ENST00000890543, ENST00000890545, ENST00000890546, ENST00000890547, ENST00000890549, ENST00000890550, ENST00000890553, ENST00000890555, ENST00000890557, ENST00000890559, ENST00000890560, ENST00000890561, ENST00000950983, ENST00000950984
RefSeq mRNA: 9 — MANE Select: NM_001082968
NM_001033551, NM_001082968, NM_001288786, NM_001288787, NM_001288788, NM_001288789, NM_001350331, NM_001350332, NM_001350333
CCDS: CCDS32584, CCDS42270, CCDS74000, CCDS74001, CCDS74002, CCDS74003
Canonical transcript exons
ENST00000379504 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001481339 | 17893661 | 17893810 |
| ENSE00002208769 | 17972262 | 17972400 |
| ENSE00002374152 | 17861476 | 17861551 |
| ENSE00002389751 | 17862731 | 17862848 |
| ENSE00002390291 | 17850893 | 17850952 |
| ENSE00003462528 | 17898596 | 17898674 |
| ENSE00003477075 | 17869340 | 17869473 |
| ENSE00003516626 | 17866876 | 17866924 |
| ENSE00003555166 | 17866296 | 17866419 |
| ENSE00003558675 | 17879627 | 17879743 |
| ENSE00003610108 | 17882705 | 17882863 |
| ENSE00003629271 | 17907447 | 17907531 |
| ENSE00003635038 | 17848823 | 17848859 |
| ENSE00003676655 | 17884634 | 17884768 |
| ENSE00004282252 | 17843511 | 17847783 |
Expression profiles
Bgee: expression breadth ubiquitous, 263 present calls, max score 97.88.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.8755 / max 159.9668, expressed in 1759 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 164809 | 12.9946 | 1747 |
| 164810 | 0.8810 | 513 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 97.88 | gold quality |
| apex of heart | UBERON:0002098 | 97.86 | gold quality |
| right atrium auricular region | UBERON:0006631 | 96.79 | gold quality |
| heart left ventricle | UBERON:0002084 | 96.56 | gold quality |
| right frontal lobe | UBERON:0002810 | 96.54 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 96.46 | gold quality |
| cardiac ventricle | UBERON:0002082 | 96.40 | gold quality |
| cardiac atrium | UBERON:0002081 | 96.20 | gold quality |
| tibial nerve | UBERON:0001323 | 96.14 | gold quality |
| heart | UBERON:0000948 | 95.56 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 95.55 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 95.51 | gold quality |
| skin of leg | UBERON:0001511 | 95.35 | gold quality |
| amygdala | UBERON:0001876 | 95.28 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 95.19 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 95.10 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 94.93 | gold quality |
| nucleus accumbens | UBERON:0001882 | 94.90 | gold quality |
| thyroid gland | UBERON:0002046 | 94.75 | gold quality |
| skin of abdomen | UBERON:0001416 | 94.74 | gold quality |
| cingulate cortex | UBERON:0003027 | 94.70 | gold quality |
| right coronary artery | UBERON:0001625 | 94.64 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 94.63 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 94.61 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 94.51 | gold quality |
| ventral tegmental area | UBERON:0002691 | 94.50 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 94.49 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 94.46 | gold quality |
| cerebellar cortex | UBERON:0002129 | 94.44 | gold quality |
| caudate nucleus | UBERON:0001873 | 94.35 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.80 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
199 targeting TOM1L2, 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-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-512-3P | 99.97 | 67.35 | 1049 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-4487 | 99.96 | 64.58 | 1252 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-552-5P | 99.93 | 68.56 | 1583 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
Literature-anchored findings (GeneRIF, showing 3)
- Two possible dementia susceptibility genes including ATPAF2 and TOM1L2 near SREBF1 locus were identified. (PMID:20167577)
- Variants in the TOM1L2/SREBF1 locus exert opposing effects of total-body lean mass (TB-LM) and total-body less head bone mineral density (TBLH-BMD) . (PMID:28743860)
- The ancestral ESCRT protein TOM1L2 selects ubiquitinated cargoes for retrieval from cilia. (PMID:37019113)
Cross-species orthologs
9 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tom1l2 | ENSDARG00000009217 |
| danio_rerio | TOM1L2 | ENSDARG00000056394 |
| mus_musculus | Tom1l2 | ENSMUSG00000000538 |
| rattus_norvegicus | Tom1l2 | ENSRNOG00000003590 |
| drosophila_melanogaster | Stam | FBGN0027363 |
| drosophila_melanogaster | Gga | FBGN0030141 |
| drosophila_melanogaster | Wdfy2 | FBGN0032246 |
| caenorhabditis_elegans | stam-1 | WBGENE00004109 |
| caenorhabditis_elegans | WBGENE00008402 |
Paralogs (10): WDFY1 (ENSG00000085449), GGA1 (ENSG00000100083), TOM1 (ENSG00000100284), GGA2 (ENSG00000103365), STAM2 (ENSG00000115145), GGA3 (ENSG00000125447), STAM (ENSG00000136738), WDFY2 (ENSG00000139668), TOM1L1 (ENSG00000141198), HGS (ENSG00000185359)
Protein
Protein identifiers
TOM1-like protein 2 — Q6ZVM7 (reviewed: Q6ZVM7)
Alternative names: Target of Myb-like protein 2
All UniProt accessions (5): Q6ZVM7, B7Z2U2, F5H3S6, K7EKL6, K7ENB0
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a MYO6/Myosin VI adapter protein that targets myosin VI to endocytic structures. May also play a role in recruiting clathrin to endosomes. May regulate growth factor-induced mitogenic signaling.
Subunit / interactions. Interacts with clathrin, SRC and TOLLIP. Interacts with MYO6.
Tissue specificity. Ubiquitously expressed with higher expression in heart and skeletal muscle.
Domain organisation. The GAT domain mediates interaction with TOLLIP.
Similarity. Belongs to the TOM1 family.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6ZVM7-1 | 1 | yes |
| Q6ZVM7-2 | 2 | |
| Q6ZVM7-3 | 3 | |
| Q6ZVM7-4 | 4 | |
| Q6ZVM7-5 | 5 |
RefSeq proteins (9): NP_001028723, NP_001076437, NP_001275715, NP_001275716, NP_001275717, NP_001275718, NP_001337260, NP_001337261, NP_001337262 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002014 | VHS_dom | Domain |
| IPR004152 | GAT_dom | Domain |
| IPR008942 | ENTH_VHS | Homologous_superfamily |
| IPR014645 | TOM1 | Family |
| IPR027429 | TOM1L2_VHS_dom | Domain |
| IPR038425 | GAT_sf | Homologous_superfamily |
Pfam: PF00790, PF03127
UniProt features (22 total): sequence conflict 8, splice variant 5, domain 2, region of interest 2, modified residue 2, chain 1, short sequence motif 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6ZVM7-F1 | 71.13 | 0.45 |
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): 160, 164
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 208 (showing top):
GOBP_REGULATION_OF_NUCLEAR_DIVISION, XU_GH1_AUTOCRINE_TARGETS_UP, GOZGIT_ESR1_TARGETS_DN, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, RICKMAN_METASTASIS_DN, GOBP_ORGANELLE_FISSION, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE, GOBP_REGULATION_OF_CELL_CYCLE, USF_01, GOBP_MITOTIC_NUCLEAR_DIVISION, HNF4_DR1_Q3, HFH4_01, GOBP_NEGATIVE_REGULATION_OF_MITOTIC_CELL_CYCLE, PPAR_DR1_Q2
GO Biological Process (3): signal transduction (GO:0007165), protein transport (GO:0015031), negative regulation of mitotic nuclear division (GO:0045839)
GO Molecular Function (5): protein kinase binding (GO:0019901), clathrin binding (GO:0030276), phosphatidylinositol binding (GO:0035091), ubiquitin binding (GO:0043130), protein binding (GO:0005515)
GO Cellular Component (3): endosome (GO:0005768), membrane (GO:0016020), extracellular exosome (GO:0070062)
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 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| regulation of mitotic nuclear division | 1 |
| negative regulation of cell cycle process | 1 |
| negative regulation of mitotic cell cycle | 1 |
| negative regulation of nuclear division | 1 |
| mitotic nuclear division | 1 |
| kinase binding | 1 |
| protein binding | 1 |
| anion binding | 1 |
| ubiquitin-like protein binding | 1 |
| binding | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
| cellular anatomical structure | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
1004 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TOM1L2 | ZFYVE16 | Q7Z3T8 | 886 |
| TOM1L2 | EEA1 | Q15075 | 700 |
| TOM1L2 | APPL1 | Q9UKG1 | 615 |
| TOM1L2 | LMTK2 | Q8IWU2 | 534 |
| TOM1L2 | DAB2 | P98082 | 528 |
| TOM1L2 | TOLLIP | Q9H0E2 | 500 |
| TOM1L2 | ICA1L | Q8NDH6 | 467 |
| TOM1L2 | RTF2 | Q9BY42 | 461 |
| TOM1L2 | SRC | P12931 | 433 |
| TOM1L2 | MYO6 | Q9UM54 | 426 |
| TOM1L2 | GIPC1 | O14908 | 387 |
| TOM1L2 | SNX32 | Q86XE0 | 376 |
| TOM1L2 | SLCO6A1 | Q86UG4 | 372 |
| TOM1L2 | ATPAF2 | Q8N5M1 | 372 |
| TOM1L2 | DRG2 | P55039 | 355 |
IntAct
55 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TOLLIP | TOM1 | psi-mi:“MI:0914”(association) | 0.890 |
| ARRDC3 | WWP2 | psi-mi:“MI:0914”(association) | 0.770 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| MYO6 | GIPC1 | psi-mi:“MI:0914”(association) | 0.690 |
| MYO6 | TOM1L2 | psi-mi:“MI:0915”(physical association) | 0.610 |
| MYO6 | TOM1 | psi-mi:“MI:0914”(association) | 0.530 |
| TOM1L2 | NDUFA6 | psi-mi:“MI:0914”(association) | 0.530 |
| CUEDC1 | TOM1 | psi-mi:“MI:0914”(association) | 0.530 |
| CTLA4 | B4GALT5 | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM171 | B3GAT3 | psi-mi:“MI:0914”(association) | 0.530 |
| TRIM10 | WIZ | psi-mi:“MI:0914”(association) | 0.530 |
| CFTR | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
| TOM1L2 | RNF11 | psi-mi:“MI:0915”(physical association) | 0.370 |
| LAPTM5 | TOM1L2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| PRNP | CARNS1 | psi-mi:“MI:0914”(association) | 0.350 |
| PRNP | WDR91 | psi-mi:“MI:0914”(association) | 0.350 |
| rep | ABLIM1 | psi-mi:“MI:0914”(association) | 0.350 |
| CTBP1 | TAF15 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ARPC1B | 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 |
| CALM1 | MYO1C | psi-mi:“MI:0914”(association) | 0.350 |
| CALM2 | MYO1C | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (95): TOM1L2 (Biochemical Activity), AGL (Co-fractionation), TOM1L2 (Affinity Capture-MS), TOM1L2 (Biochemical Activity), CUEDC1 (Affinity Capture-MS), SZRD1 (Affinity Capture-MS), NDUFA6 (Affinity Capture-MS), TOM1L2 (Reconstituted Complex), TOM1L2 (Two-hybrid), TOM1L2 (Proximity Label-MS), TOM1L2 (Proximity Label-MS), TOM1L2 (Affinity Capture-MS), TOM1L2 (Affinity Capture-MS), TOM1L2 (Two-hybrid), FAM9B (Two-hybrid)
ESM2 similar proteins: A0A8C0TYJ0, A0A8I5ZNK2, A2AWA9, A6QQZ7, A8KBF6, O55047, O88506, O95747, P20936, P23727, P26450, P27986, P31016, P78352, Q08CW1, Q08E27, Q12959, Q15139, Q15700, Q1ECX4, Q28C55, Q5PYH5, Q5PYH6, Q5PYH7, Q5R372, Q5R495, Q5R685, Q5R6Y5, Q5RAN1, Q5RCW6, Q5SRX1, Q5T2T1, Q5U2Y3, Q5ZIL4, Q5ZMW5, Q62101, Q62108, Q62696, Q63622, Q68FK8
Diamond homologs: A0A0D1E015, A0JMD2, A1CEK1, A1DFN5, A1DFP5, A2QWA2, A3LX75, A4QTV1, A8QCE4, A8XJZ8, B0WAQ0, B3MT31, B3P851, B4G2G5, B4IC49, B4JHI7, B4K982, B4M140, B4NFJ7, B4PRU6, E9Q4P1, F4KAU9, O12940, O13821, O14964, O60784, O76902, O88746, P0CR78, P0CR79, P0CS26, P0CS27, P38817, P40343, P87157, Q0CJU8, Q0CJV3, Q0P4S0, Q0U4Z8, Q0U6X7
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SMURF1 | unknown | TOM1L2 | ubiquitination |
Disease & clinical
Clinical variants and AI predictions
ClinVar
89 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 76 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3412 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:17847780:AACT:A | acceptor_gain | 1.0000 |
| 17:17847781:ACTC:A | acceptor_loss | 1.0000 |
| 17:17847782:CT:C | acceptor_gain | 1.0000 |
| 17:17847783:TCTGC:T | acceptor_loss | 1.0000 |
| 17:17847784:C:CC | acceptor_gain | 1.0000 |
| 17:17847784:CTGCA:C | acceptor_loss | 1.0000 |
| 17:17847785:T:G | acceptor_loss | 1.0000 |
| 17:17848648:T:TA | donor_gain | 1.0000 |
| 17:17848855:CCCTT:C | acceptor_gain | 1.0000 |
| 17:17848856:CCTTC:C | acceptor_gain | 1.0000 |
| 17:17862729:A:AC | donor_gain | 1.0000 |
| 17:17862730:C:CC | donor_gain | 1.0000 |
| 17:17862730:CGT:C | donor_gain | 1.0000 |
| 17:17862732:T:TA | donor_gain | 1.0000 |
| 17:17866874:A:AC | donor_gain | 1.0000 |
| 17:17866874:ACT:A | donor_gain | 1.0000 |
| 17:17866875:C:CC | donor_gain | 1.0000 |
| 17:17866875:CT:C | donor_gain | 1.0000 |
| 17:17866875:CTC:C | donor_gain | 1.0000 |
| 17:17869336:CCACC:C | donor_loss | 1.0000 |
| 17:17869337:CA:C | donor_loss | 1.0000 |
| 17:17869339:C:A | donor_loss | 1.0000 |
| 17:17869339:CCT:C | donor_gain | 1.0000 |
| 17:17879622:CTCA:C | donor_loss | 1.0000 |
| 17:17879623:TCA:T | donor_loss | 1.0000 |
| 17:17879624:CA:C | donor_loss | 1.0000 |
| 17:17879744:C:CC | acceptor_gain | 1.0000 |
| 17:17879755:C:CT | acceptor_gain | 1.0000 |
| 17:17879755:C:T | acceptor_gain | 1.0000 |
| 17:17879757:C:CT | acceptor_gain | 1.0000 |
AlphaMissense
3309 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:17869367:A:G | L295P | 1.000 |
| 17:17869469:A:G | L261P | 1.000 |
| 17:17884765:A:G | W124R | 1.000 |
| 17:17884765:A:T | W124R | 1.000 |
| 17:17847768:A:G | L464P | 0.999 |
| 17:17847768:A:T | L464H | 0.999 |
| 17:17847770:G:C | F463L | 0.999 |
| 17:17847770:G:T | F463L | 0.999 |
| 17:17847771:A:G | F463S | 0.999 |
| 17:17847772:A:G | F463L | 0.999 |
| 17:17847779:A:C | F460L | 0.999 |
| 17:17847779:A:T | F460L | 0.999 |
| 17:17847781:A:G | F460L | 0.999 |
| 17:17869385:A:G | L289P | 0.999 |
| 17:17869388:A:G | L288P | 0.999 |
| 17:17869427:A:G | L275P | 0.999 |
| 17:17879631:A:G | L258P | 0.999 |
| 17:17879712:A:T | V231D | 0.999 |
| 17:17884650:A:T | I162K | 0.999 |
| 17:17884682:A:C | F151L | 0.999 |
| 17:17884682:A:T | F151L | 0.999 |
| 17:17884683:A:G | F151S | 0.999 |
| 17:17884684:A:G | F151L | 0.999 |
| 17:17884704:A:G | L144P | 0.999 |
| 17:17893668:A:G | L120P | 0.999 |
| 17:17893674:A:G | L118P | 0.999 |
| 17:17893784:A:C | C81W | 0.999 |
| 17:17893787:G:C | N80K | 0.999 |
| 17:17893787:G:T | N80K | 0.999 |
| 17:17893790:C:A | K79N | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000016495 (17:17853739 G>A), RS1000030337 (17:17899858 A>C,T), RS1000031462 (17:17860009 C>A), RS1000038483 (17:17898531 G>A,C,T), RS1000056977 (17:17871434 C>T), RS1000065230 (17:17858528 G>A), RS1000095405 (17:17949598 G>A), RS1000096832 (17:17863807 C>T), RS1000099564 (17:17929065 G>A), RS1000147623 (17:17949906 T>C), RS1000164601 (17:17879803 A>G), RS1000181724 (17:17961137 C>T), RS1000182520 (17:17967778 T>A), RS1000194638 (17:17875899 T>C), RS1000222278 (17:17892267 C>T)
Disease associations
OMIM: gene MIM:615519 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002539_86 | Schizophrenia | 2.000000e-08 |
| GCST004771_10 | TB-LM or TBLH-BMD (pleiotropy) | 1.000000e-10 |
| GCST004946_149 | Schizophrenia | 7.000000e-10 |
| GCST005348_40 | Total body bone mineral density | 2.000000e-11 |
| GCST006803_40 | Schizophrenia | 3.000000e-08 |
| GCST90020025_1401 | Waist-to-hip ratio adjusted for BMI | 1.000000e-09 |
| GCST90020026_432 | Hip index | 1.000000e-09 |
| GCST90020027_28 | Waist-hip index | 2.000000e-10 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004995 | lean body mass |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008039 | BMI-adjusted hip circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases expression, increases methylation | 5 |
| Valproic Acid | decreases expression, increases expression, increases methylation | 3 |
| sodium arsenite | decreases expression, increases abundance, increases expression, affects cotreatment | 2 |
| Acetaminophen | decreases expression, increases expression | 2 |
| Arsenic | decreases expression, increases abundance, affects cotreatment | 2 |
| Tretinoin | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenate | decreases expression, increases abundance | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, affects localization, decreases expression | 1 |
| trichostatin A | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| manganese chloride | decreases expression, increases abundance | 1 |
| polyhexamethyleneguanidine | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| bisphenol B | increases expression | 1 |
| abrine | increases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | decreases reaction, increases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Vehicle Emissions | decreases reaction, increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Dexamethasone | increases expression | 1 |
| Furaldehyde | affects cotreatment, affects localization, decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | decreases expression, increases abundance | 1 |
| Potassium Dichromate | decreases expression | 1 |
| Sodium Chloride | affects cotreatment, affects localization, decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 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.