STX10
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Also known as hsyn10SYN10
Summary
STX10 (syntaxin 10, HGNC:11428) is a protein-coding gene on chromosome 19p13.13, encoding Syntaxin-10 (O60499). SNARE involved in vesicular transport from the late endosomes to the trans-Golgi network.
This gene belongs to the syntaxin family and encodes a soluble N-ethylmaleimide sensitive factor attachment protein receptor (SNARE). The encoded protein is involved in docking and fusion events at the Golgi apparatus. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 8677 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 53 total
- MANE Select transcript:
NM_003765
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11428 |
| Approved symbol | STX10 |
| Name | syntaxin 10 |
| Location | 19p13.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | hsyn10, SYN10 |
| Ensembl gene | ENSG00000104915 |
| Ensembl biotype | protein_coding |
| OMIM | 603765 |
| Entrez | 8677 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 13 protein_coding, 2 nonsense_mediated_decay
ENST00000242770, ENST00000343587, ENST00000440593, ENST00000587230, ENST00000587318, ENST00000588848, ENST00000589083, ENST00000591197, ENST00000591415, ENST00000591843, ENST00000593126, ENST00000964221, ENST00000964222, ENST00000964223, ENST00000964224
RefSeq mRNA: 4 — MANE Select: NM_003765
NM_001271609, NM_001271610, NM_001271611, NM_003765
CCDS: CCDS32922, CCDS62569, CCDS62570, CCDS62571
Canonical transcript exons
ENST00000587230 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001374244 | 13150139 | 13150375 |
| ENSE00001504674 | 13149728 | 13149897 |
| ENSE00003459927 | 13144577 | 13144671 |
| ENSE00003475344 | 13144058 | 13144486 |
| ENSE00003495479 | 13149029 | 13149091 |
| ENSE00003524921 | 13145288 | 13145395 |
| ENSE00003644296 | 13149499 | 13149593 |
| ENSE00003668958 | 13144764 | 13144870 |
Expression profiles
Bgee: expression breadth ubiquitous, 282 present calls, max score 97.65.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.1387 / max 178.4977, expressed in 1814 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 179472 | 7.6597 | 1770 |
| 179471 | 6.1329 | 1761 |
| 179473 | 4.1242 | 1699 |
| 179470 | 0.2219 | 108 |
Top tissues by expression
297 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| monocyte | CL:0000576 | 97.65 | gold quality |
| granulocyte | CL:0000094 | 97.52 | gold quality |
| mononuclear cell | CL:0000842 | 97.37 | gold quality |
| leukocyte | CL:0000738 | 97.23 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 96.96 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 96.22 | gold quality |
| stromal cell of endometrium | CL:0002255 | 95.21 | gold quality |
| blood | UBERON:0000178 | 95.12 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 94.83 | gold quality |
| apex of heart | UBERON:0002098 | 94.77 | gold quality |
| esophagus mucosa | UBERON:0002469 | 94.76 | gold quality |
| endocervix | UBERON:0000458 | 94.74 | gold quality |
| right lung | UBERON:0002167 | 94.56 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 94.55 | gold quality |
| body of stomach | UBERON:0001161 | 94.54 | gold quality |
| skin of leg | UBERON:0001511 | 94.52 | gold quality |
| skin of abdomen | UBERON:0001416 | 94.44 | gold quality |
| cerebellar cortex | UBERON:0002129 | 94.37 | gold quality |
| ectocervix | UBERON:0012249 | 94.35 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 94.32 | gold quality |
| spleen | UBERON:0002106 | 94.29 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 94.28 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 94.28 | gold quality |
| right adrenal gland | UBERON:0001233 | 94.27 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 94.23 | gold quality |
| right uterine tube | UBERON:0001302 | 94.23 | gold quality |
| metanephros cortex | UBERON:0010533 | 94.19 | gold quality |
| transverse colon | UBERON:0001157 | 94.17 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 94.09 | gold quality |
| right lobe of liver | UBERON:0001114 | 94.08 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 14.08 |
| E-MTAB-6075 | no | 242.31 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
10 targeting STX10, 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-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-4524A-3P | 99.72 | 66.85 | 2406 |
| HSA-MIR-6512-3P | 99.65 | 66.07 | 1468 |
| HSA-MIR-6720-5P | 99.65 | 66.22 | 1459 |
| HSA-MIR-4478 | 99.07 | 65.16 | 2320 |
| HSA-MIR-3929 | 98.32 | 65.58 | 1026 |
| HSA-MIR-10398-5P | 97.12 | 64.94 | 1051 |
| HSA-MIR-6805-5P | 95.79 | 64.86 | 670 |
Literature-anchored findings (GeneRIF, showing 2)
- May have a hitherto unrecognized function in the trans-Golgi network-endosome boundary. (PMID:16154903)
- Loss of syntaxin 10 leads to defects in normal chlamydial maturation including: variable inclusion size with fewer chlamydial organisms per inclusion, fewer infectious progeny, and delayed or halted reticulate body-elementary body differentiation. (PMID:26442221)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| drosophila_melanogaster | Syx6 | FBGN0037084 |
| caenorhabditis_elegans | WBGENE00015789 |
Paralogs (2): STX6 (ENSG00000135823), STX8 (ENSG00000170310)
Protein
Protein identifiers
Syntaxin-10 — O60499 (reviewed: O60499)
All UniProt accessions (10): O60499, F6RTM7, K7EIY4, K7EJ05, K7EK75, K7ELY2, K7EPP9, K7EQ84, Q5U8S2, X6R2W0
UniProt curated annotations — full annotation on UniProt →
Function. SNARE involved in vesicular transport from the late endosomes to the trans-Golgi network.
Subunit / interactions. Interacts with VPS52.
Subcellular location. Golgi apparatus membrane.
Tissue specificity. Expressed at high levels in heart, skeletal muscle and pancreas.
Similarity. Belongs to the syntaxin family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O60499-1 | 1 | yes |
| O60499-2 | 2 |
RefSeq proteins (4): NP_001258538, NP_001258539, NP_001258540, NP_003756* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000727 | T_SNARE_dom | Domain |
| IPR006012 | Syntaxin/epimorphin_CS | Conserved_site |
| IPR010989 | SNARE | Homologous_superfamily |
| IPR015260 | Syntaxin-6/10/61_N | Domain |
Pfam: PF05739, PF09177
UniProt features (17 total): modified residue 6, helix 4, initiator methionine 1, chain 1, splice variant 1, topological domain 1, transmembrane region 1, domain 1, coiled-coil region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4DND | X-RAY DIFFRACTION | 1.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O60499-F1 | 81.12 | 0.36 |
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 (6): 140, 143, 2, 108, 110, 134
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-6811440 | Retrograde transport at the Trans-Golgi-Network |
| R-HSA-199991 | Membrane Trafficking |
| R-HSA-5653656 | Vesicle-mediated transport |
| R-HSA-6811442 | Intra-Golgi and retrograde Golgi-to-ER traffic |
MSigDB gene sets: 137 (showing top):
BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_VESICLE_ORGANIZATION, GOBP_MEMBRANE_FUSION, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, MODULE_16, YY1_Q6, GOBP_MEMBRANE_DOCKING, SRF_Q5_01, SRF_01, SRF_C, GOCC_TRANS_GOLGI_NETWORK, YY1_02, WCTCNATGGY_UNKNOWN
GO Biological Process (9): intracellular protein transport (GO:0006886), vesicle fusion (GO:0006906), regulation of protein localization (GO:0032880), retrograde transport, endosome to Golgi (GO:0042147), Golgi vesicle transport (GO:0048193), obsolete vesicle docking (GO:0048278), protein transport (GO:0015031), vesicle-mediated transport (GO:0016192), membrane fusion (GO:0061025)
GO Molecular Function (4): SNARE binding (GO:0000149), SNAP receptor activity (GO:0005484), syntaxin binding (GO:0019905), protein binding (GO:0005515)
GO Cellular Component (13): Golgi membrane (GO:0000139), trans-Golgi network (GO:0005802), cytosol (GO:0005829), endomembrane system (GO:0012505), synaptic vesicle membrane (GO:0030672), SNARE complex (GO:0031201), vesicle (GO:0031982), trans-Golgi network membrane (GO:0032588), perinuclear region of cytoplasm (GO:0048471), Golgi apparatus (GO:0005794), membrane (GO:0016020), organelle membrane (GO:0031090), Golgi apparatus subcompartment (GO:0098791)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Intra-Golgi and retrograde Golgi-to-ER traffic | 1 |
| Vesicle-mediated transport | 1 |
| Membrane Trafficking | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 4 |
| cellular anatomical structure | 4 |
| intracellular protein localization | 3 |
| vesicle-mediated transport | 2 |
| transport | 2 |
| Golgi apparatus | 2 |
| membrane-bounded organelle | 2 |
| protein transport | 1 |
| intracellular transport | 1 |
| vesicle organization | 1 |
| organelle membrane fusion | 1 |
| regulation of localization | 1 |
| intercellular transport | 1 |
| endosomal transport | 1 |
| cytosolic transport | 1 |
| establishment of protein localization | 1 |
| cellular process | 1 |
| membrane organization | 1 |
| protein binding | 1 |
| protein-macromolecule adaptor activity | 1 |
| membrane fusion | 1 |
| fusogenic activity | 1 |
| SNARE binding | 1 |
| binding | 1 |
| bounding membrane of organelle | 1 |
| Golgi apparatus subcompartment | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
| synaptic vesicle | 1 |
| exocytic vesicle membrane | 1 |
| membrane protein complex | 1 |
| trans-Golgi network | 1 |
| organelle membrane | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| membrane | 1 |
| organelle subcompartment | 1 |
Protein interactions and networks
STRING
1190 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| STX10 | STX16 | O14662 | 986 |
| STX10 | VAMP3 | Q15836 | 977 |
| STX10 | VTI1A | Q96AJ9 | 971 |
| STX10 | NAPA | P54920 | 819 |
| STX10 | VAMP4 | O75379 | 760 |
| STX10 | VTI1B | Q9UEU0 | 724 |
| STX10 | GCC2 | Q8IWJ2 | 667 |
| STX10 | STX5 | Q13190 | 665 |
| STX10 | GOSR1 | O95249 | 605 |
| STX10 | STX8 | Q9UNK0 | 591 |
| STX10 | VPS52 | Q8N1B4 | 591 |
| STX10 | STX12 | Q86Y82 | 578 |
| STX10 | VPS54 | Q9P1Q0 | 564 |
| STX10 | YKT6 | O15498 | 558 |
| STX10 | VPS53 | Q5VIR6 | 539 |
IntAct
108 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| STX11 | SNAP23 | psi-mi:“MI:0914”(association) | 0.900 |
| STX18 | NBAS | psi-mi:“MI:0914”(association) | 0.810 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| STX6 | GOSR2 | psi-mi:“MI:0914”(association) | 0.670 |
| STX3 | SNAP23 | psi-mi:“MI:0914”(association) | 0.660 |
| STX7 | SNAP23 | psi-mi:“MI:0914”(association) | 0.640 |
| STX12 | SNAP23 | psi-mi:“MI:0914”(association) | 0.640 |
| NAPA | NBAS | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM9 | ESYT2 | psi-mi:“MI:0914”(association) | 0.530 |
| VAMP5 | NBAS | psi-mi:“MI:0914”(association) | 0.530 |
| FAM171B | FAM171A2 | psi-mi:“MI:0914”(association) | 0.530 |
| STX11 | EXOC5 | psi-mi:“MI:0914”(association) | 0.530 |
| TEX29 | TOR1A | psi-mi:“MI:0914”(association) | 0.530 |
| STX3 | YKT6 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC39A4 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| STX12 | FAM234B | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM200A | STX6 | psi-mi:“MI:0914”(association) | 0.530 |
| ANKH | FAM234B | psi-mi:“MI:0914”(association) | 0.530 |
| NRAS | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.480 |
| ESYT2 | psi-mi:“MI:0914”(association) | 0.350 | |
| OCRL | MYO1C | psi-mi:“MI:0914”(association) | 0.350 |
| VAMP5 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| NS3 | C15orf61 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (190): STX10 (Affinity Capture-MS), STX10 (Affinity Capture-MS), STX10 (Affinity Capture-MS), STX10 (Affinity Capture-MS), STX10 (Affinity Capture-MS), STX10 (Affinity Capture-MS), STX10 (Affinity Capture-MS), STX10 (Affinity Capture-MS), STX10 (Proximity Label-MS), STX10 (Proximity Label-MS), STX10 (Affinity Capture-MS), STX10 (Affinity Capture-MS), STX10 (Affinity Capture-MS), STX10 (Affinity Capture-MS), STX10 (Affinity Capture-MS)
ESM2 similar proteins: G3V7P1, O08522, O14662, O15400, O22151, O43752, O49377, O60499, O64791, O70257, O70439, O70480, O75379, O88384, O88630, O88983, O95249, P58200, Q08851, Q08DB5, Q13190, Q2KIU0, Q2TBU3, Q32L97, Q3T075, Q3ZBT5, Q5R602, Q5R6Q2, Q5RBL6, Q5RBW6, Q5RF94, Q5SRX1, Q5ZL19, Q62931, Q63635, Q86Y82, Q8BVI5, Q8K1E0, Q944A9, Q946Y7
Diamond homologs: O43752, O60499, P83528, Q5R6Q2, Q5ZL19, Q63635, Q9JKK1, O88983, Q3T075, Q54IX6, Q946Y7, Q9HGN3, Q9UNK0, Q9Z2Q7, Q553P5, Q9SA23, Q94KK7
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| STX10 | “form complex” | “LE-TGN SNARE” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 112 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 |
|---|---|---|---|
| Intra-Golgi traffic | 7 | 24.9× | 2e-06 |
| Retrograde transport at the Trans-Golgi-Network | 7 | 21.1× | 3e-06 |
| RHOJ GTPase cycle | 6 | 16.5× | 1e-04 |
| Golgi Associated Vesicle Biogenesis | 5 | 13.7× | 9e-04 |
| COPII-mediated vesicle transport | 6 | 13.4× | 2e-04 |
| Intra-Golgi and retrograde Golgi-to-ER traffic | 9 | 12.9× | 3e-06 |
| RHOQ GTPase cycle | 5 | 12.4× | 1e-03 |
| RAC3 GTPase cycle | 7 | 11.4× | 1e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| obsolete vesicle docking | 7 | 55.9× | 4e-09 |
| vesicle fusion | 8 | 50.1× | 1e-09 |
| membrane fusion | 7 | 45.5× | 2e-08 |
| obsolete vesicle docking involved in exocytosis | 5 | 35.1× | 3e-05 |
| cellular response to type II interferon | 5 | 10.8× | 3e-03 |
| retrograde transport, endosome to Golgi | 5 | 10.7× | 3e-03 |
| intracellular protein transport | 15 | 10.1× | 4e-09 |
| exocytosis | 6 | 9.5× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
53 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 43 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1472 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:13144576:CCA:C | donor_gain | 1.0000 |
| 19:13144607:T:TA | donor_gain | 1.0000 |
| 19:13144667:GCATG:G | acceptor_gain | 1.0000 |
| 19:13144668:CATG:C | acceptor_gain | 1.0000 |
| 19:13144668:CATGC:C | acceptor_gain | 1.0000 |
| 19:13144669:ATG:A | acceptor_gain | 1.0000 |
| 19:13144670:TG:T | acceptor_gain | 1.0000 |
| 19:13144672:C:CC | acceptor_gain | 1.0000 |
| 19:13144673:T:C | acceptor_loss | 1.0000 |
| 19:13144676:C:CT | acceptor_gain | 1.0000 |
| 19:13144677:A:T | acceptor_gain | 1.0000 |
| 19:13144752:T:TA | donor_gain | 1.0000 |
| 19:13144762:A:AC | donor_gain | 1.0000 |
| 19:13144763:C:CC | donor_gain | 1.0000 |
| 19:13144763:CATG:C | donor_gain | 1.0000 |
| 19:13144764:ATGC:A | donor_gain | 1.0000 |
| 19:13144767:C:CA | donor_gain | 1.0000 |
| 19:13144776:T:TA | donor_gain | 1.0000 |
| 19:13144866:ATCAG:A | acceptor_gain | 1.0000 |
| 19:13144867:TCAG:T | acceptor_gain | 1.0000 |
| 19:13144868:CAG:C | acceptor_gain | 1.0000 |
| 19:13144868:CAGC:C | acceptor_gain | 1.0000 |
| 19:13144869:AG:A | acceptor_gain | 1.0000 |
| 19:13144870:GCT:G | acceptor_loss | 1.0000 |
| 19:13144871:C:CC | acceptor_gain | 1.0000 |
| 19:13144871:CT:C | acceptor_loss | 1.0000 |
| 19:13144872:T:A | acceptor_loss | 1.0000 |
| 19:13144879:C:CT | acceptor_gain | 1.0000 |
| 19:13144880:G:T | acceptor_gain | 1.0000 |
| 19:13145392:GTAT:G | acceptor_gain | 1.0000 |
AlphaMissense
1638 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:13149784:A:G | L50P | 0.997 |
| 19:13149742:A:G | L64P | 0.996 |
| 19:13149565:G:C | F78L | 0.995 |
| 19:13149565:G:T | F78L | 0.995 |
| 19:13149567:A:G | F78L | 0.995 |
| 19:13149751:A:G | L61P | 0.995 |
| 19:13150153:A:C | F7L | 0.993 |
| 19:13150153:A:T | F7L | 0.993 |
| 19:13150155:A:G | F7L | 0.993 |
| 19:13149758:A:G | W59R | 0.992 |
| 19:13149758:A:T | W59R | 0.992 |
| 19:13149772:A:G | L54P | 0.990 |
| 19:13149746:C:G | D63H | 0.989 |
| 19:13149535:T:A | R88S | 0.988 |
| 19:13149535:T:G | R88S | 0.988 |
| 19:13149566:A:G | F78S | 0.988 |
| 19:13149756:C:A | W59C | 0.988 |
| 19:13149756:C:G | W59C | 0.988 |
| 19:13149884:C:G | A17P | 0.987 |
| 19:13150161:C:G | D5H | 0.984 |
| 19:13144812:A:G | L177P | 0.980 |
| 19:13149536:C:G | R88T | 0.979 |
| 19:13149745:T:G | D63A | 0.978 |
| 19:13150160:T:C | D5G | 0.978 |
| 19:13149755:C:G | D60H | 0.977 |
| 19:13149566:A:C | F78C | 0.975 |
| 19:13149754:T:G | D60A | 0.975 |
| 19:13149526:G:C | F91L | 0.974 |
| 19:13149526:G:T | F91L | 0.974 |
| 19:13149528:A:G | F91L | 0.974 |
dbSNP variants (sampled 300 via entrez): RS1000264223 (19:13151707 G>A), RS1000633587 (19:13146938 C>T), RS1000698409 (19:13151415 G>T), RS1001727092 (19:13151822 C>T), RS1001913788 (19:13146226 G>A,C), RS1002056929 (19:13149465 T>C), RS1002512007 (19:13146601 T>C), RS1002799337 (19:13150068 G>A,C), RS1003179219 (19:13150261 C>G,T), RS1003773073 (19:13148841 C>T), RS1003948915 (19:13148372 G>A,T), RS1004556586 (19:13145016 T>C,G), RS1005245908 (19:13149348 G>A,T), RS1005899629 (19:13149708 G>A), RS1006001240 (19:13146129 G>A,T)
Disease associations
OMIM: gene MIM:603765 | 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 |
|---|---|---|
| GCST009030_25 | Venous thromboembolism | 2.000000e-09 |
| GCST90000025_557 | Appendicular lean mass | 2.000000e-12 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004980 | appendicular lean mass |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases abundance, increases expression | 3 |
| cobaltous chloride | decreases expression | 2 |
| Air Pollutants | affects expression, increases abundance, decreases expression | 2 |
| Arsenic | affects methylation, decreases expression, increases abundance | 2 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| K 7174 | decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Copper | decreases expression, affects binding | 1 |
| Diazinon | increases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Cyclosporine | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3IL | Abcam HEK293T STX10 KO | Transformed cell line | Female |
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): venous thromboembolism