SYAP1
gene geneOn this page
Also known as FLJ14495PRO3113
Summary
SYAP1 (synapse associated protein 1, HGNC:16273) is a protein-coding gene on chromosome Xp22.2, encoding Synapse-associated protein 1 (Q96A49). Plays a role in adipocyte differentiation by promoting mTORC2-mediated phosphorylation of AKT1 at ‘Ser-473’ after growth factor stimulation.
Involved in several processes, including TORC2 signaling; cellular response to epidermal growth factor stimulus; and cellular response to peptide hormone stimulus. Located in several cellular components, including Golgi apparatus; cytoplasmic side of plasma membrane; and nucleoplasm.
Source: NCBI Gene 94056 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 110 total
- MANE Select transcript:
NM_032796
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16273 |
| Approved symbol | SYAP1 |
| Name | synapse associated protein 1 |
| Location | Xp22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ14495, PRO3113 |
| Ensembl gene | ENSG00000169895 |
| Ensembl biotype | protein_coding |
| Entrez | 94056 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 11 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000380155, ENST00000495743, ENST00000896382, ENST00000896383, ENST00000896384, ENST00000896385, ENST00000896386, ENST00000896387, ENST00000896388, ENST00000939106, ENST00000939107, ENST00000968847
RefSeq mRNA: 1 — MANE Select: NM_032796
NM_032796
CCDS: CCDS14177
Canonical transcript exons
ENST00000380155 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001150585 | 16757162 | 16757309 |
| ENSE00001150590 | 16756663 | 16756721 |
| ENSE00001150594 | 16754945 | 16755093 |
| ENSE00001150603 | 16743701 | 16743840 |
| ENSE00001150608 | 16741716 | 16741789 |
| ENSE00001150613 | 16736166 | 16736232 |
| ENSE00001483909 | 16760232 | 16765340 |
| ENSE00001483985 | 16719612 | 16719899 |
| ENSE00003660043 | 16735227 | 16735345 |
Expression profiles
Bgee: expression breadth ubiquitous, 252 present calls, max score 95.69.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 84.3031 / max 1967.1136, expressed in 1827 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 195636 | 72.2337 | 1826 |
| 195637 | 9.6614 | 1551 |
| 195635 | 1.2690 | 873 |
| 195638 | 0.8197 | 209 |
| 195639 | 0.3193 | 65 |
Top tissues by expression
255 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| kidney epithelium | UBERON:0004819 | 95.69 | silver quality |
| calcaneal tendon | UBERON:0003701 | 93.32 | gold quality |
| ileal mucosa | UBERON:0000331 | 93.31 | gold quality |
| jejunal mucosa | UBERON:0000399 | 93.29 | gold quality |
| tibialis anterior | UBERON:0001385 | 93.22 | silver quality |
| adrenal tissue | UBERON:0018303 | 93.18 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 92.69 | silver quality |
| upper arm skin | UBERON:0004263 | 92.59 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 91.81 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 91.79 | gold quality |
| deltoid | UBERON:0001476 | 91.64 | silver quality |
| bronchial epithelial cell | CL:0002328 | 91.22 | gold quality |
| bronchus | UBERON:0002185 | 90.98 | gold quality |
| jejunum | UBERON:0002115 | 90.97 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 90.93 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 90.81 | silver quality |
| myocardium | UBERON:0002349 | 90.47 | silver quality |
| decidua | UBERON:0002450 | 90.34 | gold quality |
| gingiva | UBERON:0001828 | 90.18 | gold quality |
| oral cavity | UBERON:0000167 | 90.12 | gold quality |
| duodenum | UBERON:0002114 | 89.95 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 89.95 | gold quality |
| colonic mucosa | UBERON:0000317 | 89.79 | gold quality |
| gingival epithelium | UBERON:0001949 | 89.78 | gold quality |
| vastus lateralis | UBERON:0001379 | 89.09 | gold quality |
| sperm | CL:0000019 | 89.03 | gold quality |
| quadriceps femoris | UBERON:0001377 | 88.98 | silver quality |
| bone marrow | UBERON:0002371 | 88.80 | gold quality |
| tendon | UBERON:0000043 | 88.74 | gold quality |
| liver | UBERON:0002107 | 88.68 | gold quality |
Single-cell (SCXA)
Detected in 7 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-4 | yes | 35.69 |
| E-HCAD-5 | yes | 32.58 |
| E-ANND-3 | yes | 13.92 |
| E-MTAB-9388 | yes | 10.39 |
| E-GEOD-135922 | yes | 7.07 |
| E-MTAB-8060 | no | 237.84 |
| E-MTAB-6524 | no | 196.28 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
103 targeting SYAP1, 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-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-223-3P | 99.99 | 70.14 | 1140 |
| HSA-MIR-499A-5P | 99.98 | 70.79 | 1323 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| 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-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-613 | 99.91 | 71.50 | 1710 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-380-3P | 99.89 | 70.18 | 1978 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-4671-3P | 99.88 | 72.46 | 1045 |
| HSA-MIR-221-5P | 99.86 | 65.45 | 1052 |
Literature-anchored findings (GeneRIF, showing 1)
- BSTA (SYAP!) promotes mTORC2-mediated phosphorylation of Akt1 to suppress expression of FoxC2 and stimulate adipocyte differentiation. (PMID:23300339)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | syap1 | ENSDARG00000012946 |
| mus_musculus | Syap1 | ENSMUSG00000031357 |
| rattus_norvegicus | Syap1 | ENSRNOG00000004304 |
| drosophila_melanogaster | Sap47 | FBGN0013334 |
| caenorhabditis_elegans | C16C2.4 | WBGENE00007621 |
Paralogs (1): BSDC1 (ENSG00000160058)
Protein
Protein identifiers
Synapse-associated protein 1 — Q96A49 (reviewed: Q96A49)
Alternative names: BSD domain-containing signal transducer and Akt interactor protein
All UniProt accessions (1): Q96A49
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in adipocyte differentiation by promoting mTORC2-mediated phosphorylation of AKT1 at ‘Ser-473’ after growth factor stimulation.
Subunit / interactions. Interacts (via phosphorylated form and BSD domain) with AKT1; this interaction is enhanced in a mTORC2-mediated manner in response to epidermal growth factor (EGF) stimulation and activates AKT1.
Subcellular location. Cytoplasm. Perinuclear region. Golgi apparatus. Perikaryon. Cell projection. Axon. Dendrite. Growth cone. Presynaptic cell membrane. Postsynaptic cell membrane. Membrane.
Tissue specificity. Expressed in heart, placenta, lung, liver, skeletal muscle, kidney and pancreas.
Post-translational modifications. Phosphorylated. Phosphorylation increases in a mTORC2-mediated manner in response to epidermal growth factor (EGF) stimulation.
RefSeq proteins (1): NP_116185* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005607 | BSD_dom | Domain |
| IPR035925 | BSD_dom_sf | Homologous_superfamily |
| IPR051494 | BSD_domain-containing | Family |
Pfam: PF03909
UniProt features (17 total): helix 5, modified residue 3, sequence conflict 3, chain 1, domain 1, strand 1, turn 1, region of interest 1, mutagenesis site 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1X3A | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96A49-F1 | 66.18 | 0.24 |
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 (3): 248, 269, 313
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 198–199 | inhibits interaction with akt1, mtorc2-mediated phosphorylation of akt1 at ‘ser-473’ and adipocyte differentiation. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 141 (showing top):
GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_REGULATION_OF_FAT_CELL_DIFFERENTIATION, TAATAAT_MIR126, GOBP_REGULATION_OF_PHOSPHORYLATION, GOBP_REGULATION_OF_NEURONAL_SYNAPTIC_PLASTICITY, GOBP_POSITIVE_REGULATION_OF_FAT_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_SHORT_TERM_NEURONAL_SYNAPTIC_PLASTICITY, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, IVANOVA_HEMATOPOIESIS_MATURE_CELL, GOBP_REGULATION_OF_TRANSFERASE_ACTIVITY, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_RESPONSE_TO_EPIDERMAL_GROWTH_FACTOR, GOBP_CELLULAR_RESPONSE_TO_INSULIN_STIMULUS, GOBP_CELL_CELL_SIGNALING, GOBP_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY
GO Biological Process (9): cell differentiation (GO:0030154), cellular response to insulin stimulus (GO:0032869), cellular response to platelet-derived growth factor stimulus (GO:0036120), TORC2 signaling (GO:0038203), positive regulation of fat cell differentiation (GO:0045600), regulation of short-term neuronal synaptic plasticity (GO:0048172), cellular response to epidermal growth factor stimulus (GO:0071364), positive regulation of protein serine/threonine kinase activity (GO:0071902), cellular response to insulin-like growth factor stimulus (GO:1990314)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (18): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), cytosol (GO:0005829), cytoplasmic side of plasma membrane (GO:0009898), axon (GO:0030424), dendrite (GO:0030425), growth cone (GO:0030426), presynaptic membrane (GO:0042734), perikaryon (GO:0043204), synapse (GO:0045202), postsynaptic membrane (GO:0045211), perinuclear region of cytoplasm (GO:0048471), extracellular exosome (GO:0070062), plasma membrane (GO:0005886), membrane (GO:0016020), cell projection (GO:0042995)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 7 |
| cytoplasm | 3 |
| cellular response to peptide hormone stimulus | 2 |
| cellular response to growth factor stimulus | 2 |
| intracellular membrane-bounded organelle | 2 |
| neuron projection | 2 |
| synaptic membrane | 2 |
| cellular developmental process | 1 |
| response to insulin | 1 |
| response to platelet-derived growth factor | 1 |
| TOR signaling | 1 |
| fat cell differentiation | 1 |
| positive regulation of cell differentiation | 1 |
| regulation of fat cell differentiation | 1 |
| regulation of neuronal synaptic plasticity | 1 |
| response to epidermal growth factor | 1 |
| protein serine/threonine kinase activity | 1 |
| positive regulation of protein kinase activity | 1 |
| regulation of protein serine/threonine kinase activity | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| endomembrane system | 1 |
| plasma membrane | 1 |
| cytoplasmic side of membrane | 1 |
| dendritic tree | 1 |
| site of polarized growth | 1 |
| distal axon | 1 |
| presynapse | 1 |
| neuronal cell body | 1 |
| cell junction | 1 |
| postsynapse | 1 |
| extracellular vesicle | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
718 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SYAP1 | NOC4L | Q9BVI4 | 480 |
| SYAP1 | CTPS2 | Q9NRF8 | 461 |
| SYAP1 | TXLNG | Q9NUQ3 | 456 |
| SYAP1 | REPS2 | Q8NFH8 | 438 |
| SYAP1 | EIF2S3 | P41091 | 429 |
| SYAP1 | RICTOR | Q6R327 | 419 |
| SYAP1 | CA5B | Q9Y2D0 | 403 |
| SYAP1 | AP1S2 | P56377 | 372 |
| SYAP1 | CCDC125 | Q86Z20 | 363 |
| SYAP1 | ATP5ME | P56385 | 360 |
| SYAP1 | ZRSR2 | Q15696 | 357 |
| SYAP1 | FAM9A | Q8IZU1 | 357 |
| SYAP1 | PUDP | Q08623 | 355 |
| SYAP1 | DTX3 | Q8N9I9 | 355 |
| SYAP1 | PABIR2 | Q7Z309 | 352 |
IntAct
95 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MFN1 | MFN2 | psi-mi:“MI:0914”(association) | 0.790 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| SYAP1 | PIN1 | psi-mi:“MI:0915”(physical association) | 0.690 |
| PIN1 | POLR2D | psi-mi:“MI:0914”(association) | 0.640 |
| SYAP1 | NDN | psi-mi:“MI:0915”(physical association) | 0.600 |
| IGF1R | PIK3R2 | psi-mi:“MI:2364”(proximity) | 0.590 |
| INSR | PIK3R2 | psi-mi:“MI:2364”(proximity) | 0.570 |
| SLC39A1 | NME2P1 | psi-mi:“MI:0914”(association) | 0.560 |
| THRA | SYAP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TNFRSF10C | SYAP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MIP | SYAP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZFPL1 | SYAP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ADIPOQ | SYAP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SNRNP27 | UBA6 | psi-mi:“MI:0914”(association) | 0.530 |
| TAS2R41 | YKT6 | psi-mi:“MI:0914”(association) | 0.530 |
| USP47 | DENR | psi-mi:“MI:0914”(association) | 0.530 |
| CYP1A1 | SNX3 | psi-mi:“MI:0914”(association) | 0.530 |
| BAG2 | HGS | psi-mi:“MI:0914”(association) | 0.530 |
| POT1 | SYAP1 | psi-mi:“MI:0915”(physical association) | 0.510 |
| NRAS | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.480 |
| OTUB1 | EPM2A | psi-mi:“MI:0914”(association) | 0.350 |
| Ecd | AAR2 | psi-mi:“MI:0914”(association) | 0.350 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (194): SYAP1 (Co-fractionation), SYAP1 (Co-fractionation), SYAP1 (Co-fractionation), SYAP1 (Proximity Label-MS), SYAP1 (Affinity Capture-MS), SYAP1 (Affinity Capture-MS), SYAP1 (Affinity Capture-RNA), SYAP1 (Proximity Label-MS), SYAP1 (Affinity Capture-MS), SYAP1 (Affinity Capture-MS), PIN1 (Affinity Capture-MS), SYAP1 (Affinity Capture-MS), SYAP1 (Affinity Capture-MS), SYAP1 (Affinity Capture-MS), SYAP1 (Affinity Capture-MS)
ESM2 similar proteins: A0JNJ3, A0M8T5, A0PJT0, A2BIJ3, D3ZTQ1, O35867, O94876, P42566, P42567, P97578, Q00PJ1, Q02225, Q09YI1, Q09YK4, Q09YM8, Q16643, Q2IBF8, Q2QL82, Q2QLA2, Q2QLG9, Q2T9N1, Q3SX22, Q3UQU0, Q3USH5, Q5BJ78, Q5RDH2, Q5T1M5, Q5U3K5, Q5ZIK6, Q68EF0, Q69ZZ6, Q6INU2, Q6NTW1, Q6P9Q6, Q6TYB5, Q6ZPJ0, Q80Y55, Q8IWB9, Q8IWE2, Q8N0X7
Diamond homologs: Q960T2, Q96A49, Q9D5V6
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 97 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 |
|---|---|---|---|
| Constitutive Signaling by Aberrant PI3K in Cancer | 5 | 8.1× | 4e-03 |
| PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling | 6 | 7.4× | 2e-03 |
| RAF/MAP kinase cascade | 8 | 6.3× | 9e-04 |
| PIP3 activates AKT signaling | 7 | 6.0× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| obsolete protein targeting to mitochondrion | 5 | 32.3× | 4e-04 |
| MAPK cascade | 6 | 10.2× | 5e-03 |
| protein autophosphorylation | 6 | 9.7× | 5e-03 |
| positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 9 | 7.8× | 1e-03 |
| positive regulation of MAPK cascade | 8 | 7.2× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
110 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 29 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1062 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:16719895:CGGCA:C | donor_gain | 1.0000 |
| X:16719896:GGCA:G | donor_gain | 1.0000 |
| X:16719896:GGCAG:G | donor_gain | 1.0000 |
| X:16719897:GCA:G | donor_gain | 1.0000 |
| X:16719897:GCAG:G | donor_gain | 1.0000 |
| X:16719900:G:GG | donor_gain | 1.0000 |
| X:16735216:A:AG | acceptor_gain | 1.0000 |
| X:16735223:ACAG:A | acceptor_loss | 1.0000 |
| X:16735224:C:G | acceptor_gain | 1.0000 |
| X:16735224:CA:C | acceptor_loss | 1.0000 |
| X:16735225:A:AG | acceptor_gain | 1.0000 |
| X:16735226:G:GT | acceptor_gain | 1.0000 |
| X:16735226:GA:G | acceptor_gain | 1.0000 |
| X:16735226:GAC:G | acceptor_gain | 1.0000 |
| X:16735226:GACT:G | acceptor_gain | 1.0000 |
| X:16735226:GACTA:G | acceptor_gain | 1.0000 |
| X:16735342:CAAG:C | donor_loss | 1.0000 |
| X:16735343:AAG:A | donor_loss | 1.0000 |
| X:16735344:AG:A | donor_loss | 1.0000 |
| X:16735346:G:T | donor_loss | 1.0000 |
| X:16736163:CA:C | acceptor_loss | 1.0000 |
| X:16736164:A:AG | acceptor_gain | 1.0000 |
| X:16736164:A:AT | acceptor_loss | 1.0000 |
| X:16736165:G:GG | acceptor_gain | 1.0000 |
| X:16736165:G:GT | acceptor_loss | 1.0000 |
| X:16736165:GA:G | acceptor_gain | 1.0000 |
| X:16736165:GAC:G | acceptor_gain | 1.0000 |
| X:16736165:GACA:G | acceptor_gain | 1.0000 |
| X:16736228:GTCAG:G | donor_gain | 1.0000 |
| X:16741696:T:TA | acceptor_gain | 1.0000 |
AlphaMissense
2340 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:16741733:T:A | W127R | 1.000 |
| X:16741733:T:C | W127R | 1.000 |
| X:16754964:T:A | W199R | 1.000 |
| X:16754964:T:C | W199R | 1.000 |
| X:16754992:T:C | L208P | 1.000 |
| X:16741735:G:C | W127C | 0.999 |
| X:16741735:G:T | W127C | 0.999 |
| X:16743714:T:C | F150S | 0.999 |
| X:16743777:C:A | A171D | 0.999 |
| X:16743821:T:C | F186L | 0.999 |
| X:16743823:T:A | F186L | 0.999 |
| X:16743823:T:G | F186L | 0.999 |
| X:16743831:T:A | V189D | 0.999 |
| X:16754962:T:C | F198S | 0.999 |
| X:16754979:T:G | Y204D | 0.999 |
| X:16754982:C:A | R205S | 0.999 |
| X:16754983:G:C | R205P | 0.999 |
| X:16754988:T:C | S207P | 0.999 |
| X:16735254:C:A | A68D | 0.998 |
| X:16741782:T:C | L143S | 0.998 |
| X:16743720:G:C | R152P | 0.998 |
| X:16743797:G:C | D178H | 0.998 |
| X:16743807:T:C | L181P | 0.998 |
| X:16743819:G:C | R185T | 0.998 |
| X:16743820:A:C | R185S | 0.998 |
| X:16743820:A:T | R185S | 0.998 |
| X:16743828:T:C | L188P | 0.998 |
| X:16754961:T:C | F198L | 0.998 |
| X:16754963:C:A | F198L | 0.998 |
| X:16754963:C:G | F198L | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000062367 (X:16718514 T>TC), RS1000273744 (X:16756330 T>A,G), RS1000291529 (X:16750245 T>C,G), RS1000324605 (X:16750491 G>C), RS1000413728 (X:16719243 G>A,C), RS1000466344 (X:16725452 G>C), RS1000488490 (X:16743233 C>T), RS1000536607 (X:16757831 C>T), RS1000636814 (X:16748137 G>A,T), RS1000773417 (X:16740011 G>A,C), RS1000839465 (X:16742058 C>G,T), RS1000839559 (X:16744075 A>G), RS1000961390 (X:16758179 G>C), RS1001020511 (X:16721498 C>T), RS1001300507 (X:16752491 C>G)
Disease associations
OMIM: gene `` | 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
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 3 |
| Valproic Acid | increases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| coumarin | decreases phosphorylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| ICG 001 | decreases expression | 1 |
| bisphenol B | increases expression | 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 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Ivermectin | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Testosterone | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Aflatoxin B1 | increases expression | 1 |
| Cadmium Chloride | increases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| Lactic Acid | decreases expression | 1 |
| Genistein | decreases expression, increases reaction | 1 |
| Particulate Matter | increases abundance, increases 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_B3IS | Abcam HEK293T SYAP1 KO | Transformed cell line | 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.