STX12
gene geneOn this page
Also known as STX13STX14
Summary
STX12 (syntaxin 12, HGNC:11430) is a protein-coding gene on chromosome 1p35.3, encoding Syntaxin-12 (Q86Y82). SNARE promoting fusion of transport vesicles with target membranes.
Predicted to enable SNAP receptor activity and SNARE binding activity. Involved in autophagosome assembly; cholesterol efflux; and protein stabilization. Located in several cellular components, including BLOC-1 complex; phagocytic vesicle; and phagophore assembly site. Part of SNARE complex.
Source: NCBI Gene 23673 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 48 total
- MANE Select transcript:
NM_177424
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11430 |
| Approved symbol | STX12 |
| Name | syntaxin 12 |
| Location | 1p35.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | STX13, STX14 |
| Ensembl gene | ENSG00000117758 |
| Ensembl biotype | protein_coding |
| OMIM | 606892 |
| Entrez | 23673 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 7 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000373943, ENST00000440806, ENST00000468761, ENST00000472285, ENST00000481874, ENST00000893600, ENST00000893601, ENST00000961041, ENST00000961042, ENST00000961043
RefSeq mRNA: 1 — MANE Select: NM_177424
NM_177424
CCDS: CCDS310
Canonical transcript exons
ENST00000373943 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000761741 | 27819650 | 27819732 |
| ENSE00000866709 | 27801678 | 27801815 |
| ENSE00001037463 | 27810246 | 27810289 |
| ENSE00001153614 | 27773219 | 27773425 |
| ENSE00001651718 | 27817851 | 27817923 |
| ENSE00001814246 | 27822231 | 27824443 |
| ENSE00003483126 | 27789562 | 27789631 |
| ENSE00003571412 | 27793533 | 27793632 |
| ENSE00003787731 | 27812163 | 27812268 |
Expression profiles
Bgee: expression breadth ubiquitous, 287 present calls, max score 97.54.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 58.6149 / max 399.7117, expressed in 1823 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 1746 | 58.6149 | 1823 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| middle temporal gyrus | UBERON:0002771 | 97.54 | gold quality |
| corpus epididymis | UBERON:0004359 | 97.47 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 97.31 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 97.08 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 97.03 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 96.88 | gold quality |
| thyroid gland | UBERON:0002046 | 96.87 | gold quality |
| lower lobe of lung | UBERON:0008949 | 96.53 | gold quality |
| cauda epididymis | UBERON:0004360 | 96.46 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 96.42 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 96.28 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 96.25 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 96.24 | gold quality |
| postcentral gyrus | UBERON:0002581 | 96.24 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 96.23 | gold quality |
| entorhinal cortex | UBERON:0002728 | 96.18 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 96.17 | gold quality |
| cortical plate | UBERON:0005343 | 96.13 | gold quality |
| endothelial cell | CL:0000115 | 96.07 | gold quality |
| parietal lobe | UBERON:0001872 | 96.05 | gold quality |
| right lung | UBERON:0002167 | 96.01 | gold quality |
| pons | UBERON:0000988 | 95.95 | gold quality |
| body of stomach | UBERON:0001161 | 95.89 | gold quality |
| substantia nigra | UBERON:0002038 | 95.78 | gold quality |
| squamous epithelium | UBERON:0006914 | 95.78 | gold quality |
| midbrain | UBERON:0001891 | 95.74 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 95.73 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 95.72 | gold quality |
| spinal cord | UBERON:0002240 | 95.63 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 95.62 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-13 | yes | 23.71 |
| E-MTAB-11011 | no | 221.72 |
| E-MTAB-6678 | no | 3.20 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
112 targeting STX12, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-6744-5P | 99.93 | 66.82 | 748 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
Literature-anchored findings (GeneRIF, showing 7)
- ABCA1 forms a complex with syntaxin 13 and flotillin-1, residing at the plasma membrane and in phagosomes that are partially located in raft microdomains (PMID:15469992)
- the importance of syntaxin-13 in the trafficking of matrix metalloproteinases during degradation of extracellular matrix substrates and subsequent cellular invasion (PMID:19910495)
- Data indicate that knockdown of syntaxin 13 (syx13) further increased the cellular toxicity caused by mutant CHMP2B (CHMP2BIntron5) expression. (PMID:24095276)
- The association of Src, EGFR and beta1 integrin is dependent upon membrane traffic that is mediated by syntaxin13 (officially known as STX12) and SNAP23. (PMID:24496451)
- STX13 acts as a fusion SNARE in melanosomal trafficking pathways. (PMID:26208634)
- A BLOC-1-AP-3 super-complex sorts a cis-SNARE complex into endosome-derived tubular transport carriers. (PMID:33886957)
- Syntaxin 12 and COMMD3 are new factors that function with VPS33B in the biogenesis of platelet alpha-granules. (PMID:34905616)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | stx12l | ENSDARG00000044605 |
| danio_rerio | stx12 | ENSDARG00000098813 |
| mus_musculus | Stx12 | ENSMUSG00000028879 |
| rattus_norvegicus | Stx12 | ENSRNOG00000011804 |
| drosophila_melanogaster | Syx7 | FBGN0267849 |
| caenorhabditis_elegans | syx-7 | WBGENE00009478 |
Paralogs (12): STX7 (ENSG00000079950), STX1B (ENSG00000099365), STX4 (ENSG00000103496), STX1A (ENSG00000106089), STX2 (ENSG00000111450), STX16 (ENSG00000124222), STX11 (ENSG00000135604), STX17 (ENSG00000136874), STX5 (ENSG00000162236), STX3 (ENSG00000166900), TSNARE1 (ENSG00000171045), STX19 (ENSG00000178750)
Protein
Protein identifiers
Syntaxin-12 — Q86Y82 (reviewed: Q86Y82)
All UniProt accessions (2): B1AJQ6, Q86Y82
UniProt curated annotations — full annotation on UniProt →
Function. SNARE promoting fusion of transport vesicles with target membranes. Together with SNARE STX6, promotes movement of vesicles from endosomes to the cell membrane, and may therefore function in the endocytic recycling pathway. Through complex formation with GRIP1, GRIA2 and NSG1 controls the intracellular fate of AMPAR and the endosomal sorting of the GRIA2 subunit toward recycling and membrane targeting.
Subunit / interactions. Interacts with NAPA and SNAP23. Identified in a complex containing STX6, STX12, VAMP4 and VTI1A. Associates with the BLOC-1 complex. Interacts with BLOC1S6. Interacts with GRIPAP1. Forms a complex with GRIP1, GRIA2 and NSG1; controls the intracellular fate of AMPAR and the endosomal sorting of the GRIA2 subunit toward recycling and membrane targeting. Interacts with NSG1. Interacts with TPC1. Interacts (via N-terminus) with VPS13B.
Subcellular location. Endosome membrane. Golgi apparatus membrane. Endomembrane system. Early endosome membrane. Recycling endosome membrane.
Similarity. Belongs to the syntaxin family.
RefSeq proteins (1): NP_803173* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000727 | T_SNARE_dom | Domain |
| IPR006011 | Syntaxin_N | Domain |
| IPR006012 | Syntaxin/epimorphin_CS | Conserved_site |
| IPR010989 | SNARE | Homologous_superfamily |
| IPR045242 | Syntaxin | Family |
Pfam: PF05739, PF14523
UniProt features (17 total): modified residue 5, helix 3, topological domain 2, initiator methionine 1, chain 1, sequence variant 1, strand 1, transmembrane region 1, domain 1, coiled-coil region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2DNX | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86Y82-F1 | 80.33 | 0.44 |
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 (5): 218, 225, 2, 139, 142
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 245 (showing top):
GSE45365_NK_CELL_VS_BCELL_UP, GCM_MAP4K4, GOBP_VACUOLE_ORGANIZATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_VESICLE_ORGANIZATION, TTTGTAG_MIR520D, GOBP_MEMBRANE_FUSION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_VESICLE_MEDIATED_TRANSPORT, GGGTGGRR_PAX4_03, GOBP_MACROAUTOPHAGY, GOBP_MEMBRANE_DOCKING, GOBP_ORGANIC_HYDROXY_COMPOUND_TRANSPORT, GOBP_CHOLESTEROL_EFFLUX, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN
GO Biological Process (10): autophagosome assembly (GO:0000045), intracellular protein transport (GO:0006886), vesicle fusion (GO:0006906), endocytic recycling (GO:0032456), cholesterol efflux (GO:0033344), obsolete vesicle docking (GO:0048278), protein stabilization (GO:0050821), protein transport (GO:0015031), vesicle-mediated transport (GO:0016192), regulation of biological quality (GO:0065008)
GO Molecular Function (3): SNARE binding (GO:0000149), SNAP receptor activity (GO:0005484), protein binding (GO:0005515)
GO Cellular Component (20): Golgi membrane (GO:0000139), phagophore assembly site (GO:0000407), nucleoplasm (GO:0005654), Golgi apparatus (GO:0005794), synaptic vesicle (GO:0008021), endomembrane system (GO:0012505), synaptic vesicle membrane (GO:0030672), SNARE complex (GO:0031201), early endosome membrane (GO:0031901), vesicle (GO:0031982), membrane raft (GO:0045121), phagocytic vesicle (GO:0045335), recycling endosome (GO:0055037), recycling endosome membrane (GO:0055038), postsynaptic recycling endosome (GO:0098837), endosome (GO:0005768), endosome membrane (GO:0010008), membrane (GO:0016020), BLOC-1 complex (GO:0031083), cytoplasmic vesicle (GO:0031410)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 4 |
| cellular anatomical structure | 4 |
| intracellular protein localization | 2 |
| transport | 2 |
| bounding membrane of organelle | 2 |
| endomembrane system | 2 |
| endosome membrane | 2 |
| endosome | 2 |
| recycling endosome | 2 |
| Atg12 activating enzyme activity | 1 |
| protein-phosphatidylethanolamide deconjugating activity | 1 |
| Atg12 conjugating enzyme activity | 1 |
| Atg12 ligase activity | 1 |
| organelle assembly | 1 |
| Atg1/ULK1 kinase complex assembly | 1 |
| autophagosome organization | 1 |
| protein transport | 1 |
| intracellular transport | 1 |
| vesicle organization | 1 |
| vesicle-mediated transport | 1 |
| organelle membrane fusion | 1 |
| endosomal transport | 1 |
| vesicle-mediated transport to the plasma membrane | 1 |
| cholesterol transport | 1 |
| regulation of protein stability | 1 |
| establishment of protein localization | 1 |
| cellular process | 1 |
| biological regulation | 1 |
| protein binding | 1 |
| protein-macromolecule adaptor activity | 1 |
| membrane fusion | 1 |
| fusogenic activity | 1 |
| binding | 1 |
| Golgi apparatus | 1 |
| nuclear lumen | 1 |
| intracellular membrane-bounded organelle | 1 |
| exocytic vesicle | 1 |
| presynapse | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
Protein interactions and networks
STRING
1712 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| STX12 | STX8 | Q9UNK0 | 936 |
| STX12 | BLOC1S6 | Q9UL45 | 858 |
| STX12 | STX6 | O43752 | 821 |
| STX12 | VPS33A | Q96AX1 | 814 |
| STX12 | VPS33B | Q9H267 | 792 |
| STX12 | VTI1A | Q96AJ9 | 792 |
| STX12 | VAMP4 | O75379 | 781 |
| STX12 | VIPAS39 | Q9H9C1 | 773 |
| STX12 | VAMP7 | P51809 | 769 |
| STX12 | SNAP23 | O00161 | 758 |
| STX12 | VAMP8 | Q9BV40 | 751 |
| STX12 | VAMP3 | Q15836 | 738 |
| STX12 | RAB11A | P24410 | 677 |
| STX12 | VAMP2 | P19065 | 671 |
| STX12 | STX11 | O75558 | 641 |
IntAct
269 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| STX12 | SNAP29 | psi-mi:“MI:0915”(physical association) | 0.880 |
| SNAP29 | STX12 | psi-mi:“MI:0915”(physical association) | 0.880 |
| STX12 | STX4 | psi-mi:“MI:0915”(physical association) | 0.870 |
| STX4 | STX12 | psi-mi:“MI:0915”(physical association) | 0.870 |
| STX12 | DTX2 | psi-mi:“MI:0915”(physical association) | 0.780 |
| DTX2 | STX12 | psi-mi:“MI:0915”(physical association) | 0.780 |
| NAPA | SNAP23 | psi-mi:“MI:0914”(association) | 0.780 |
| STX12 | SNAP47 | psi-mi:“MI:0915”(physical association) | 0.740 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| TRDN | TMEM223 | psi-mi:“MI:0914”(association) | 0.640 |
| STX12 | TIMMDC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STX12 | TMEM14B | psi-mi:“MI:0915”(physical association) | 0.560 |
| STX12 | PLPPR2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STX12 | BCL2L13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STX1A | STX12 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STX12 | KASH5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STX2 | STX12 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STX12 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (469): STX12 (Two-hybrid), STX12 (Two-hybrid), DTX2 (Two-hybrid), STX12 (Affinity Capture-RNA), STX12 (Affinity Capture-MS), STX12 (Affinity Capture-MS), STX12 (Affinity Capture-MS), EIF2B5 (Affinity Capture-MS), RNF13 (Affinity Capture-MS), KIAA1467 (Affinity Capture-MS), YKT6 (Affinity Capture-MS), EIF2B1 (Affinity Capture-MS), BNIP1 (Affinity Capture-MS), EIF2B4 (Affinity Capture-MS), GOLGA2 (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: A8WVD0, G3V7P1, O14662, O15400, O16000, O35526, O64791, O65359, O70257, O70439, O94651, P32850, P32851, P32854, P32856, P50279, P61264, P61265, P61266, P61267, P61268, P70452, P91409, Q00262, Q08144, Q08849, Q08850, Q12846, Q13277, Q16623, Q16932, Q24547, Q3SWZ3, Q3ZBT5, Q42374, Q54JY7, Q54X86, Q5R4L2, Q5R602, Q5RBW6
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 128 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 |
|---|---|---|---|
| Retrograde transport at the Trans-Golgi-Network | 11 | 27.8× | 5e-11 |
| Intra-Golgi traffic | 6 | 17.9× | 5e-05 |
| trans-Golgi Network Vesicle Budding | 6 | 17.5× | 5e-05 |
| NCAM signaling for neurite out-growth | 5 | 15.6× | 5e-04 |
| Golgi Associated Vesicle Biogenesis | 5 | 11.5× | 1e-03 |
| COPII-mediated vesicle transport | 6 | 11.2× | 5e-04 |
| Intra-Golgi and retrograde Golgi-to-ER traffic | 9 | 10.8× | 1e-05 |
| ER-Phagosome pathway | 6 | 8.9× | 1e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| obsolete vesicle docking | 7 | 45.8× | 2e-08 |
| vesicle fusion | 8 | 41.1× | 5e-09 |
| synaptic vesicle priming | 5 | 34.3× | 2e-05 |
| membrane fusion | 5 | 26.7× | 8e-05 |
| exocytosis | 14 | 18.2× | 3e-11 |
| mitophagy | 6 | 16.3× | 1e-04 |
| autophagosome maturation | 5 | 15.0× | 1e-03 |
| retrograde transport, endosome to Golgi | 8 | 14.1× | 1e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
48 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 33 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1262 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:27773422:GCCA:G | donor_gain | 1.0000 |
| 1:27773426:G:GG | donor_gain | 1.0000 |
| 1:27789560:A:AG | acceptor_gain | 1.0000 |
| 1:27789561:G:GG | acceptor_gain | 1.0000 |
| 1:27789632:G:GG | donor_gain | 1.0000 |
| 1:27801675:TA:T | acceptor_loss | 1.0000 |
| 1:27801676:A:AG | acceptor_gain | 1.0000 |
| 1:27801677:G:GG | acceptor_gain | 1.0000 |
| 1:27801677:GC:G | acceptor_gain | 1.0000 |
| 1:27801778:A:T | donor_gain | 1.0000 |
| 1:27801816:G:GG | donor_gain | 1.0000 |
| 1:27812161:A:AG | acceptor_gain | 1.0000 |
| 1:27812162:G:GA | acceptor_gain | 1.0000 |
| 1:27812162:GCC:G | acceptor_gain | 1.0000 |
| 1:27812162:GCCAT:G | acceptor_gain | 1.0000 |
| 1:27812267:AG:A | donor_loss | 1.0000 |
| 1:27812270:T:A | donor_loss | 1.0000 |
| 1:27817845:CCTTA:C | acceptor_loss | 1.0000 |
| 1:27817847:TTA:T | acceptor_loss | 1.0000 |
| 1:27817848:TA:T | acceptor_loss | 1.0000 |
| 1:27817849:A:AG | acceptor_gain | 1.0000 |
| 1:27817850:G:GA | acceptor_gain | 1.0000 |
| 1:27817850:GGCT:G | acceptor_gain | 1.0000 |
| 1:27817924:G:GG | donor_gain | 1.0000 |
| 1:27819645:TGCA:T | acceptor_loss | 1.0000 |
| 1:27819646:GCA:G | acceptor_loss | 1.0000 |
| 1:27819647:CAG:C | acceptor_loss | 1.0000 |
| 1:27819648:A:AG | acceptor_gain | 1.0000 |
| 1:27819648:AG:A | acceptor_loss | 1.0000 |
| 1:27819649:G:GC | acceptor_gain | 1.0000 |
AlphaMissense
1821 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:27812264:T:C | L191P | 1.000 |
| 1:27801706:T:C | L106P | 0.999 |
| 1:27817851:G:C | A193P | 0.999 |
| 1:27817876:T:A | I201K | 0.999 |
| 1:27817878:T:C | F202L | 0.999 |
| 1:27817880:T:A | F202L | 0.999 |
| 1:27817880:T:G | F202L | 0.999 |
| 1:27817890:G:C | A206P | 0.999 |
| 1:27819661:G:C | A221P | 0.999 |
| 1:27819697:G:C | A233P | 0.999 |
| 1:27819718:G:C | A240P | 0.999 |
| 1:27793565:C:A | A74D | 0.998 |
| 1:27793586:T:C | L81P | 0.998 |
| 1:27801726:G:C | A113P | 0.998 |
| 1:27817888:T:C | L205S | 0.998 |
| 1:27819656:T:A | I219K | 0.998 |
| 1:27789631:T:C | L63P | 0.997 |
| 1:27793564:G:C | A74P | 0.997 |
| 1:27793573:A:C | T77P | 0.997 |
| 1:27801703:G:C | R105P | 0.997 |
| 1:27801751:A:C | Q121P | 0.997 |
| 1:27812251:G:C | A187P | 0.997 |
| 1:27817867:T:A | V198D | 0.997 |
| 1:27817876:T:C | I201T | 0.997 |
| 1:27819676:T:C | S226P | 0.997 |
| 1:27801718:T:C | F110S | 0.996 |
| 1:27812243:G:T | R184I | 0.996 |
| 1:27817876:T:G | I201R | 0.996 |
| 1:27817888:T:G | L205W | 0.996 |
| 1:27817911:G:T | G213C | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000021133 (1:27777212 C>T), RS1000058975 (1:27776086 A>C), RS1000191154 (1:27816034 C>G,T), RS1000216018 (1:27795394 C>T), RS1000419991 (1:27790951 A>C), RS1000502832 (1:27794254 T>A), RS1000534042 (1:27794012 T>A), RS1000586540 (1:27824824 TCAC>T), RS1000658186 (1:27794586 T>C), RS1000662812 (1:27787908 A>G), RS1000680076 (1:27824576 TAGAG>T), RS1000708187 (1:27804547 C>G,T), RS1000815761 (1:27807597 A>G), RS1000866450 (1:27807809 A>G), RS1000882438 (1:27786091 A>G)
Disease associations
OMIM: gene MIM:606892 | 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
48 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases abundance, affects methylation | 3 |
| Arsenic | affects methylation, decreases expression, increases abundance | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, increases expression | 1 |
| methylselenic acid | increases expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, affects localization, increases expression | 1 |
| trichostatin A | affects expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| K 7174 | increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| bisphenol B | increases expression | 1 |
| ON 01910 | increases expression | 1 |
| jinfukang | decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Bortezomib | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Demecolcine | increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Ethyl Methanesulfonate | 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.