SYNGR2
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Summary
SYNGR2 (synaptogyrin 2, HGNC:11499) is a protein-coding gene on chromosome 17q25.3, encoding Synaptogyrin-2 (O43760). May play a role in regulated exocytosis.
This gene encodes an integral membrane protein containing four transmembrane regions and a C-terminal cytoplasmic tail that is tyrosine phosphorylated. The exact function of this protein is unclear, but studies of a similar rat protein suggest that it may play a role in regulating membrane traffic in non-neuronal cells. The gene belongs to the synaptogyrin gene family. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 9144 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 35 total
- Druggable target: yes
- MANE Select transcript:
NM_004710
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11499 |
| Approved symbol | SYNGR2 |
| Name | synaptogyrin 2 |
| Location | 17q25.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000108639 |
| Ensembl biotype | protein_coding |
| OMIM | 603926 |
| Entrez | 9144 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 11 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000225777, ENST00000585591, ENST00000588282, ENST00000589168, ENST00000589183, ENST00000589711, ENST00000590201, ENST00000591770, ENST00000592456, ENST00000862683, ENST00000862684, ENST00000862685, ENST00000862686, ENST00000968423
RefSeq mRNA: 3 — MANE Select: NM_004710
NM_001320523, NM_001363778, NM_004710
CCDS: CCDS11753, CCDS86641
Canonical transcript exons
ENST00000225777 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002946163 | 78168581 | 78168715 |
| ENSE00003491282 | 78171510 | 78171649 |
| ENSE00003528925 | 78170817 | 78171054 |
| ENSE00003907923 | 78171739 | 78172720 |
Expression profiles
Bgee: expression breadth ubiquitous, 288 present calls, max score 98.68.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 69.5317 / max 632.9244, expressed in 1786 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 163033 | 69.0736 | 1786 |
| 163034 | 0.3891 | 146 |
| 163035 | 0.0689 | 17 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of transverse colon | UBERON:0004991 | 98.68 | gold quality |
| right lung | UBERON:0002167 | 98.40 | gold quality |
| body of pancreas | UBERON:0001150 | 98.37 | gold quality |
| minor salivary gland | UBERON:0001830 | 98.31 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 98.17 | gold quality |
| body of stomach | UBERON:0001161 | 98.13 | gold quality |
| gastrocnemius | UBERON:0001388 | 98.12 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 98.10 | gold quality |
| skin of abdomen | UBERON:0001416 | 98.05 | gold quality |
| skin of leg | UBERON:0001511 | 98.03 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 97.93 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 97.90 | gold quality |
| upper lobe of lung | UBERON:0008948 | 97.90 | gold quality |
| granulocyte | CL:0000094 | 97.85 | gold quality |
| mucosa of stomach | UBERON:0001199 | 97.83 | gold quality |
| spleen | UBERON:0002106 | 97.71 | gold quality |
| lymph node | UBERON:0000029 | 97.67 | gold quality |
| mouth mucosa | UBERON:0003729 | 97.64 | gold quality |
| right coronary artery | UBERON:0001625 | 97.59 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 97.56 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 97.56 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 97.54 | gold quality |
| lower esophagus | UBERON:0013473 | 97.54 | gold quality |
| apex of heart | UBERON:0002098 | 97.52 | gold quality |
| metanephros cortex | UBERON:0010533 | 97.42 | gold quality |
| vermiform appendix | UBERON:0001154 | 97.36 | gold quality |
| muscle of leg | UBERON:0001383 | 97.36 | gold quality |
| spinal cord | UBERON:0002240 | 97.35 | gold quality |
| esophagus | UBERON:0001043 | 97.29 | gold quality |
| monocyte | CL:0000576 | 97.28 | gold quality |
Single-cell (SCXA)
Detected in 15 experiment(s), a significant marker in 15.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10855 | yes | 316.41 |
| E-CURD-122 | yes | 99.48 |
| E-MTAB-8142 | yes | 25.82 |
| E-HCAD-13 | yes | 23.69 |
| E-MTAB-9467 | yes | 21.03 |
| E-CURD-46 | yes | 20.72 |
| E-MTAB-9067 | yes | 14.51 |
| E-MTAB-8498 | yes | 9.56 |
| E-MTAB-9388 | yes | 8.09 |
| E-MTAB-6678 | yes | 7.26 |
| E-CURD-112 | yes | 5.20 |
| E-MTAB-10042 | yes | 4.55 |
| E-CURD-88 | yes | 4.48 |
| E-MTAB-9801 | yes | 4.32 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): MYC
miRNA regulators (miRDB)
43 targeting SYNGR2, 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-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-4779 | 99.86 | 66.50 | 1583 |
| HSA-MIR-609 | 99.82 | 64.26 | 505 |
| HSA-MIR-34B-5P | 99.78 | 67.56 | 1175 |
| HSA-MIR-449C-5P | 99.78 | 67.63 | 1168 |
| HSA-MIR-320A-3P | 99.77 | 69.73 | 2107 |
| HSA-MIR-320B | 99.77 | 69.73 | 2107 |
| HSA-MIR-320C | 99.77 | 69.73 | 2107 |
| HSA-MIR-320D | 99.77 | 69.73 | 2107 |
| HSA-MIR-4429 | 99.77 | 69.62 | 2111 |
| HSA-MIR-7856-5P | 99.75 | 69.99 | 2901 |
| HSA-MIR-2682-5P | 99.73 | 67.38 | 1055 |
| HSA-MIR-4699-3P | 99.71 | 70.15 | 3142 |
| HSA-MIR-3158-5P | 99.65 | 67.51 | 1763 |
| HSA-MIR-6715B-5P | 99.64 | 69.63 | 1420 |
| HSA-MIR-1287-3P | 99.63 | 66.93 | 492 |
| HSA-MIR-4499 | 99.62 | 67.29 | 1470 |
| HSA-MIR-4269 | 99.55 | 69.89 | 1373 |
| HSA-MIR-1912-3P | 99.32 | 67.40 | 936 |
| HSA-MIR-4685-5P | 99.25 | 65.99 | 1563 |
| HSA-MIR-6837-5P | 99.25 | 65.47 | 1632 |
| HSA-MIR-6734-3P | 99.15 | 66.27 | 1627 |
| HSA-MIR-4687-5P | 99.14 | 66.26 | 488 |
| HSA-MIR-4695-5P | 99.06 | 64.87 | 1151 |
| HSA-MIR-1295B-5P | 99.03 | 67.50 | 810 |
| HSA-MIR-935 | 98.82 | 69.36 | 1072 |
| HSA-MIR-6776-5P | 98.54 | 67.43 | 1304 |
| HSA-MIR-4266 | 98.53 | 67.29 | 1035 |
| HSA-MIR-6827-5P | 98.46 | 64.88 | 1256 |
Literature-anchored findings (GeneRIF, showing 2)
- synaptogyrin-2 is essential to promoting the formation of the IBs to become virus factories for viral RNA replication through its interaction with NSs. These findings unveil the function of synaptogyrin-2 as an enhancer in viral infection. (PMID:27226560)
- Pan-cancer analysis of SYNGR2 with a focus on clinical implications and immune landscape in liver hepatocellular carcinoma. (PMID:37170221)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | syngr2b | ENSDARG00000104470 |
| mus_musculus | Syngr2 | ENSMUSG00000048277 |
| rattus_norvegicus | Syngr2 | ENSRNOG00000050547 |
| caenorhabditis_elegans | WBGENE00004912 |
Paralogs (3): SYNGR1 (ENSG00000100321), SYNGR4 (ENSG00000105467), SYNGR3 (ENSG00000127561)
Protein
Protein identifiers
Synaptogyrin-2 — O43760 (reviewed: O43760)
Alternative names: Cellugyrin
All UniProt accessions (5): O43760, K7EJ35, K7ELD9, K7ELS8, K7ENG9
UniProt curated annotations — full annotation on UniProt →
Function. May play a role in regulated exocytosis. In neuronal cells, modulates the localization of synaptophysin/SYP into synaptic-like microvesicles and may therefore play a role in the formation and/or the maturation of this vesicles. May also play a role in GLUT4 storage and transport to the plasma membrane. (Microbial infection) May play a role in the assembly of cytoplasmic inclusion bodies required for SFTS phlebovirus replication.
Subunit / interactions. (Microbial infection) Interacts with SFTS phlebovirus protein NSs; may be involved in virus replication.
Subcellular location. Cytoplasmic vesicle membrane. Cytoplasmic vesicle. Secretory vesicle. Synaptic vesicle membrane Lipid droplet.
Tissue specificity. Ubiquitous; low expression in brain.
Post-translational modifications. May be tyrosine phosphorylated by Src.
Induction. (Microbial infection) Up-regulated upon SFTS phlebovirus infection (at protein level).
Similarity. Belongs to the synaptogyrin family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O43760-1 | 1 | yes |
| O43760-2 | 2 |
RefSeq proteins (3): NP_001307452, NP_001350707, NP_004701* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008253 | Marvel | Domain |
| IPR016579 | Synaptogyrin | Family |
Pfam: PF01284
UniProt features (10 total): transmembrane region 4, modified residue 2, chain 1, domain 1, splice variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O43760-F1 | 81.52 | 0.50 |
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): 1, 3
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 223 (showing top):
WANG_RECURRENT_LIVER_CANCER_UP, ASTON_MAJOR_DEPRESSIVE_DISORDER_DN, GOBP_VESICLE_MEDIATED_TRANSPORT, BROWNE_HCMV_INFECTION_24HR_UP, GOBP_EXOCYTOSIS, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_UP, GOBP_SECRETION, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, TIEN_INTESTINE_PROBIOTICS_24HR_UP, GOBP_MEMBRANE_ORGANIZATION, CHEN_HOXA5_TARGETS_9HR_DN, ZHU_CMV_24_HR_UP, DANG_BOUND_BY_MYC, SCHLOSSER_SERUM_RESPONSE_AUGMENTED_BY_MYC, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON
GO Biological Process (2): regulated exocytosis (GO:0045055), synaptic vesicle membrane organization (GO:0048499)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (9): lipid droplet (GO:0005811), membrane (GO:0016020), synaptic vesicle membrane (GO:0030672), neuromuscular junction (GO:0031594), extracellular exosome (GO:0070062), synaptic vesicle (GO:0008021), cytoplasmic vesicle membrane (GO:0030659), cytoplasmic vesicle (GO:0031410), synapse (GO:0045202)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| exocytosis | 1 |
| endomembrane system organization | 1 |
| membrane organization | 1 |
| binding | 1 |
| intracellular membraneless organelle | 1 |
| cellular anatomical structure | 1 |
| synaptic vesicle | 1 |
| exocytic vesicle membrane | 1 |
| synapse | 1 |
| extracellular vesicle | 1 |
| exocytic vesicle | 1 |
| presynapse | 1 |
| vesicle membrane | 1 |
| cytoplasmic vesicle | 1 |
| cytoplasm | 1 |
| intracellular vesicle | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
759 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SYNGR2 | TMC8 | Q8IU68 | 922 |
| SYNGR2 | TMC6 | Q7Z403 | 902 |
| SYNGR2 | TK1 | P04183 | 737 |
| SYNGR2 | SYNPR | Q8TBG9 | 734 |
| SYNGR2 | CANX | P27824 | 641 |
| SYNGR2 | ANKFN1 | Q8N957 | 471 |
| SYNGR2 | TMEM235 | A6NFC5 | 446 |
| SYNGR2 | C17orf67 | Q0P5P2 | 435 |
| SYNGR2 | TMEM50B | P56557 | 431 |
| SYNGR2 | ITSN2 | Q9NZM3 | 393 |
| SYNGR2 | FLYWCH2 | Q96CP2 | 387 |
| SYNGR2 | A0A0A6YYG9 | A0A0A6YYG9 | 380 |
| SYNGR2 | VRTN | Q9H8Y1 | 373 |
| SYNGR2 | TMEM181 | Q9P2C4 | 368 |
| SYNGR2 | C17orf99 | Q6UX52 | 366 |
IntAct
96 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PRELID1 | TRIAP1 | psi-mi:“MI:0914”(association) | 0.730 |
| SCARA3 | SYNGR2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SYNGR2 | SCARA3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SYNGR2 | GPR35 | psi-mi:“MI:0915”(physical association) | 0.550 |
| SLC7A1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| HTR2C | KLRG2 | psi-mi:“MI:0914”(association) | 0.530 |
| ADGRG5 | KLRG2 | psi-mi:“MI:0914”(association) | 0.530 |
| GPR52 | SYNGR2 | psi-mi:“MI:0914”(association) | 0.530 |
| SLCO1B1 | SYNGR2 | psi-mi:“MI:0914”(association) | 0.530 |
| ANKRD22 | ESYT2 | psi-mi:“MI:0914”(association) | 0.530 |
| PCDHAC2 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC22A9 | GPR89A | psi-mi:“MI:0914”(association) | 0.530 |
| LPAR1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| PRRT2 | NDUFS4 | psi-mi:“MI:0914”(association) | 0.530 |
| SYNGR2 | BDKRB2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SYNGR2 | C5AR2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SYNGR2 | CCR4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SYNGR2 | DRD2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SYNGR2 | F2RL1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SYNGR2 | LTB4R2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SYNGR2 | E6 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SYNGR2 | FATE1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| ADGRE5 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| PCDHAC2 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| VIPR2 | C15orf61 | psi-mi:“MI:0914”(association) | 0.350 |
| FPR2 | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
| TACR1 | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (105): SCARA3 (Two-hybrid), SYNGR2 (Affinity Capture-MS), SYNGR2 (Affinity Capture-MS), SYNGR2 (Affinity Capture-MS), SYNGR2 (Two-hybrid), SYNGR2 (Two-hybrid), SYNGR2 (Affinity Capture-MS), SYNGR2 (Affinity Capture-MS), SYNGR2 (Affinity Capture-MS), SYNGR2 (Affinity Capture-MS), SYNGR2 (Affinity Capture-MS), SYNGR2 (Affinity Capture-MS), SYNGR2 (Affinity Capture-MS), SYNGR2 (Affinity Capture-MS), SYNGR2 (Affinity Capture-MS)
ESM2 similar proteins: A2VE58, A3KQ86, A6H7B0, A7E3W5, A8MWL6, B2RZ87, O43759, O43760, O43761, O54980, O55100, O55101, O76735, O95473, P07825, P08247, P0DI73, P20488, P22831, P47987, P79826, Q08AU7, Q08DL4, Q28793, Q2YDD6, Q5EBF8, Q5R703, Q5RER2, Q5XGR0, Q5XIT3, Q5YJC1, Q62277, Q62876, Q642A2, Q6RW13, Q7JYV2, Q7TQJ1, Q8BGN8, Q8R191, Q8TBG9
Diamond homologs: A2VE58, A7E3W5, A8MWL6, O43759, O43760, O43761, O54980, O55100, O55101, O76735, O95473, Q2YDD6, Q5R703, Q62876, Q7JYV2, Q8R191, Q9Z1L2
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 105 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 |
|---|---|---|---|
| Class A/1 (Rhodopsin-like receptors) | 13 | 15.8× | 4e-10 |
| GPCR ligand binding | 13 | 13.7× | 1e-09 |
| Peptide ligand-binding receptors | 8 | 9.7× | 8e-05 |
| Signaling by GPCR | 13 | 8.5× | 3e-07 |
| G alpha (q) signalling events | 9 | 8.5× | 6e-05 |
| G alpha (s) signalling events | 7 | 8.4× | 7e-04 |
| GPCR downstream signalling | 11 | 7.8× | 1e-05 |
| G alpha (i) signalling events | 10 | 6.4× | 1e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway | 9 | 22.4× | 4e-08 |
| adenylate cyclase-modulating G protein-coupled receptor signaling pathway | 5 | 19.1× | 6e-04 |
| G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger | 5 | 17.7× | 7e-04 |
| positive regulation of cytosolic calcium ion concentration | 13 | 17.3× | 4e-10 |
| phospholipase C-activating G protein-coupled receptor signaling pathway | 11 | 16.5× | 2e-08 |
| adenylate cyclase-activating G protein-coupled receptor signaling pathway | 10 | 12.8× | 8e-07 |
| chemotaxis | 7 | 10.8× | 4e-04 |
| G protein-coupled receptor signaling pathway | 17 | 7.0× | 4e-08 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
35 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 23 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
649 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:78168716:G:GA | donor_loss | 1.0000 |
| 17:78168716:G:GG | donor_gain | 1.0000 |
| 17:78168717:T:G | donor_loss | 1.0000 |
| 17:78170849:T:TA | acceptor_gain | 1.0000 |
| 17:78171054:GGTAT:G | donor_loss | 1.0000 |
| 17:78171055:G:GC | donor_loss | 1.0000 |
| 17:78171504:CCCCA:C | acceptor_loss | 1.0000 |
| 17:78171505:CCCAG:C | acceptor_loss | 1.0000 |
| 17:78171506:CCA:C | acceptor_loss | 1.0000 |
| 17:78171507:CAGC:C | acceptor_loss | 1.0000 |
| 17:78171508:A:AG | acceptor_gain | 1.0000 |
| 17:78171509:G:GG | acceptor_gain | 1.0000 |
| 17:78171509:GCT:G | acceptor_gain | 1.0000 |
| 17:78171646:CTGG:C | donor_loss | 1.0000 |
| 17:78171648:GG:G | donor_gain | 1.0000 |
| 17:78171649:GG:G | donor_gain | 1.0000 |
| 17:78171650:G:GG | donor_gain | 1.0000 |
| 17:78171651:T:A | donor_loss | 1.0000 |
| 17:78171734:T:TA | acceptor_gain | 1.0000 |
| 17:78171734:TGCA:T | acceptor_loss | 1.0000 |
| 17:78171737:A:AG | acceptor_gain | 1.0000 |
| 17:78171737:A:T | acceptor_loss | 1.0000 |
| 17:78171737:AG:A | acceptor_gain | 1.0000 |
| 17:78171737:AGG:A | acceptor_gain | 1.0000 |
| 17:78171737:AGGGT:A | acceptor_gain | 1.0000 |
| 17:78171738:G:GC | acceptor_gain | 1.0000 |
| 17:78171738:GG:G | acceptor_gain | 1.0000 |
| 17:78171738:GGG:G | acceptor_gain | 1.0000 |
| 17:78171738:GGGT:G | acceptor_gain | 1.0000 |
| 17:78171738:GGGTG:G | acceptor_gain | 1.0000 |
AlphaMissense
1463 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:78171539:T:C | F123L | 0.983 |
| 17:78171541:C:A | F123L | 0.983 |
| 17:78171541:C:G | F123L | 0.983 |
| 17:78171626:A:C | S152R | 0.982 |
| 17:78171628:C:A | S152R | 0.982 |
| 17:78171628:C:G | S152R | 0.982 |
| 17:78171515:T:A | W115R | 0.974 |
| 17:78171515:T:C | W115R | 0.974 |
| 17:78171647:T:A | W159R | 0.974 |
| 17:78171647:T:C | W159R | 0.974 |
| 17:78171527:T:A | W119R | 0.972 |
| 17:78171527:T:C | W119R | 0.972 |
| 17:78171883:T:C | F208L | 0.956 |
| 17:78171885:C:A | F208L | 0.956 |
| 17:78171885:C:G | F208L | 0.956 |
| 17:78171623:T:C | F151L | 0.949 |
| 17:78171625:C:A | F151L | 0.949 |
| 17:78171625:C:G | F151L | 0.949 |
| 17:78171560:T:A | W130R | 0.947 |
| 17:78171560:T:C | W130R | 0.947 |
| 17:78171562:G:C | W130C | 0.945 |
| 17:78171562:G:T | W130C | 0.945 |
| 17:78171739:G:C | G160R | 0.943 |
| 17:78171019:G:C | R101P | 0.930 |
| 17:78171536:G:C | G122R | 0.930 |
| 17:78171031:T:A | V105D | 0.929 |
| 17:78170835:T:C | F40L | 0.927 |
| 17:78170837:C:A | F40L | 0.927 |
| 17:78170837:C:G | F40L | 0.927 |
| 17:78168701:C:A | R29S | 0.922 |
dbSNP variants (sampled 300 via entrez): RS1000204801 (17:78168376 C>G), RS1000633548 (17:78172066 G>A,C), RS1001118230 (17:78167137 T>A), RS1001710991 (17:78168073 C>T), RS1001791632 (17:78172441 C>A), RS1001951393 (17:78167408 G>GT), RS1002089454 (17:78172309 T>C,G), RS1002395769 (17:78168314 G>C), RS1002893358 (17:78169269 T>C,G), RS1003737771 (17:78173021 T>G), RS1003981144 (17:78173121 C>T), RS1004187537 (17:78166579 A>T), RS1004463446 (17:78173295 T>C), RS1004814932 (17:78166625 G>A), RS1006559859 (17:78170005 C>T)
Disease associations
OMIM: gene MIM:603926 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003325_4 | Lung cancer | 4.000000e-07 |
| GCST003326_4 | Adenocarcinoma | 1.000000e-06 |
| GCST90002403_324 | Red blood cell count | 1.000000e-12 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004305 | erythrocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066492 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 4 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.72 | Kd | 1906 | nM | CHEMBL5653589 |
| 5.72 | ED50 | 1906 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 4 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 | 2149534: Binding affinity to human SYNGR2 incubated for 45 mins by Kinobead based pull down assay | kd | 1.9062 | uM |
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression, increases methylation | 6 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| sodium arsenite | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| potassium chromate(VI) | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| entinostat | increases expression | 1 |
| 2,2’,4,4’,5-brominated diphenyl ether | increases expression | 1 |
| MT19c compound | decreases expression | 1 |
| Bortezomib | decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Triclosan | decreases expression | 1 |
| Vanadates | decreases expression | 1 |
| 1-Methyl-4-phenylpyridinium | increases expression | 1 |
| Antirheumatic Agents | 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 |
|---|---|---|---|
| CHEMBL5652576 | Binding | Binding affinity to human SYNGR2 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
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3IT | Abcam HEK293T SYNGR2 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): lung adenocarcinoma, lung carcinoma