SNCG
gene geneOn this page
Also known as BCSG1SRpersyn
Summary
SNCG (synuclein gamma, HGNC:11141) is a protein-coding gene on chromosome 10q23.2, encoding Gamma-synuclein (O76070). Plays a role in neurofilament network integrity.
This gene encodes a member of the synuclein family of proteins which are believed to be involved in the pathogenesis of neurodegenerative diseases. Mutations in this gene have also been associated with breast tumor development.
Source: NCBI Gene 6623 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 31 total
- MANE Select transcript:
NM_003087
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11141 |
| Approved symbol | SNCG |
| Name | synuclein gamma |
| Location | 10q23.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | BCSG1, SR, persyn |
| Ensembl gene | ENSG00000173267 |
| Ensembl biotype | protein_coding |
| OMIM | 602998 |
| Entrez | 6623 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 7 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000348795, ENST00000372017, ENST00000465679, ENST00000483064, ENST00000896561, ENST00000930521, ENST00000930522, ENST00000951192, ENST00000951193
RefSeq mRNA: 2 — MANE Select: NM_003087
NM_001330120, NM_003087
CCDS: CCDS7380, CCDS81483
Canonical transcript exons
ENST00000372017 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001672714 | 86962965 | 86963258 |
| ENSE00001871412 | 86958599 | 86958818 |
| ENSE00003502391 | 86962604 | 86962675 |
| ENSE00003555827 | 86959633 | 86959674 |
| ENSE00003681869 | 86960001 | 86960128 |
Expression profiles
Bgee: expression breadth ubiquitous, 218 present calls, max score 99.34.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 39.9907 / max 2615.8110, expressed in 1302 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 106003 | 32.1780 | 1037 |
| 106007 | 4.6900 | 1001 |
| 106004 | 2.3155 | 366 |
| 106001 | 0.4269 | 197 |
| 106005 | 0.1262 | 50 |
| 106006 | 0.1057 | 36 |
| 205931 | 0.0839 | 34 |
| 106008 | 0.0538 | 20 |
| 106002 | 0.0107 | 3 |
Top tissues by expression
284 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right adrenal gland cortex | UBERON:0035827 | 99.34 | gold quality |
| right adrenal gland | UBERON:0001233 | 99.32 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 99.20 | gold quality |
| left adrenal gland | UBERON:0001234 | 99.12 | gold quality |
| popliteal artery | UBERON:0002250 | 98.97 | gold quality |
| tibial artery | UBERON:0007610 | 98.97 | gold quality |
| right frontal lobe | UBERON:0002810 | 98.82 | gold quality |
| amygdala | UBERON:0001876 | 98.80 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 98.73 | gold quality |
| cingulate cortex | UBERON:0003027 | 98.71 | gold quality |
| left coronary artery | UBERON:0001626 | 98.49 | gold quality |
| adrenal cortex | UBERON:0001235 | 98.41 | gold quality |
| right coronary artery | UBERON:0001625 | 98.39 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 98.35 | gold quality |
| adrenal gland | UBERON:0002369 | 98.16 | gold quality |
| coronary artery | UBERON:0001621 | 98.11 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 98.01 | gold quality |
| prefrontal cortex | UBERON:0000451 | 97.67 | gold quality |
| hypothalamus | UBERON:0001898 | 97.49 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 97.31 | gold quality |
| pons | UBERON:0000988 | 97.28 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 97.25 | gold quality |
| adrenal tissue | UBERON:0018303 | 97.17 | gold quality |
| omental fat pad | UBERON:0010414 | 97.15 | gold quality |
| peritoneum | UBERON:0002358 | 97.09 | gold quality |
| aorta | UBERON:0000947 | 97.06 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 96.91 | gold quality |
| tibial nerve | UBERON:0001323 | 96.55 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 96.25 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 96.23 | gold quality |
Single-cell (SCXA)
Detected in 14 experiment(s), a significant marker in 12.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7316 | yes | 13242.69 |
| E-HCAD-25 | yes | 3544.71 |
| E-HCAD-56 | yes | 3018.34 |
| E-MTAB-9154 | yes | 1612.38 |
| E-MTAB-8559 | yes | 1032.56 |
| E-GEOD-124472 | yes | 316.65 |
| E-HCAD-1 | yes | 33.25 |
| E-MTAB-6701 | yes | 26.60 |
| E-MTAB-8410 | yes | 23.13 |
| E-HCAD-10 | yes | 20.71 |
| E-HCAD-9 | yes | 16.57 |
| E-MTAB-7303 | no | 787.92 |
| E-MTAB-10137 | no | 601.67 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AP1, ATF4, JUN, MEF2A, POU1F1, SP1, SP3, TBX5, TCF4
Literature-anchored findings (GeneRIF, showing 40)
- Biophysical properties of the synucleins and their propensities to fibrillate: inhibition of alpha-synuclein assembly by beta- and gamma-synucleins (PMID:11812782)
- strong evidence that AP1 plays an overriding role in the transcription of the BCSG1 gene and that blockade of AP1 transactivation down-regulates BCSG1 expression and suppresses tumor phenotype (PMID:12072430)
- role in promoting cancer cell survival and inhibition of stress- and chemotherapy drug-induced apoptosis by modulating MAPK pathways (PMID:12121974)
- data demonstrated a moderate elevation of matrix metalloproteinases-2 and significant upregulation of matrix metalloproteinases-9 in stable cell lines overexpressing gamma-synuclein (PMID:12559990)
- Hypomethylation of the synuclein gamma gene CpG island promotes its aberrant expression in breast carcinoma and ovarian carcinoma. (PMID:12566312)
- In high-grade glial tumors. Found in all anaplastic ependymomas but in only 33% of ependymomas and 16% of myxopapillary ependymomas. In 63% of glioblastomas but not in other astrocytic tumors. No gamma-synuclein in medulloblastomas. (PMID:12783249)
- SNCG is required for efficient ER-alpha signaling in brest cancer. (PMID:12873981)
- Low expression level of gamma-synuclein in human esophageal squamous cell carcinoma(ESCC) and biological effects of gamma-synuclein over-expression on ESCC 9706 cells suggest gamma-synuclein may play role as negative regulator in of human ESCC. (PMID:12970872)
- we identified the mitotic checkpoint protein BubR1 as a novel binding partner of BCSG1 (PMID:14576821)
- aberrrant SNCG gene expression can occur by CpG island demethylation, and may have a role in the progressive stages of gastric carcinogenesis (PMID:15073123)
- the alpha- and gamma-synucleins regulate proteasomal function and beta-synuclein acts as a negative regulator of alpha-synuclein (PMID:15591046)
- Up-regulation of gamma-synuclein is associated with bladder cancer (PMID:15596044)
- Inducing demethylation of SNCG by hepatocarcinogens may represent one underlying mechanism for the aberrant expression of SNCG in hepatoma. (PMID:16596223)
- The acidic C-terminal tail region of gamma-synuclein, which displays extensive sequence divergence, is more highly disordered than the corresponding regions in the other two family members. (PMID:16597821)
- BCSG-1 significantly correlates with levels of transglutaminase-3 and may have a role in progression of breast cancer (PMID:16786148)
- SNCG mRNA is expressed in a substantial proportion of malignant ovarian tumors and demethylation is an important event in abnormal synuclein-gamma expression in most of these cases. (PMID:16816827)
- This study suggests that the expression of SNCG is an independent predictive marker for recurrence and metastasis in breast cancer progression. (PMID:16821081)
- Abnormal expression of BCSG1 in breast cancer cells is likely regulated by multiple mechanisms. (PMID:16989287)
- Synuclein-gamma might be involved in late stage breast and ovarian cancer metastasis by enhancing cell motility through activation of the RHO family small-GTPases and ERK. (PMID:17016652)
- tobacco exposure induces the abnormal expression of SNCG in lung cancer cells through downregulation of DNMT3B (PMID:17369845)
- SNCG is a new unfavorable prognostic marker for breast cancer progression and a potential target for breast cancer treatment. (PMID:17534899)
- A comparison of the structural and dynamic properties of the free states of all three synucleins, is reported in order to shed light on differences that may help to explain their different propensities to aggregate. (PMID:17681534)
- results are consistent with the hypothesis that gamma-synuclein plays an important role in adipocyte physiology (PMID:18424589)
- Gamma-synuclein is able to bind directly to several transcription factors. These results are discussed in connection with the implication of gamma-synuclein in diseases. (PMID:18498014)
- data revealed unique expression pattern and methylation status of BCSG1 gene in breast tissues derived from Chinese patients and suggested both methylation status and mechanisms underlying BCSG1 regulation might be closely related to racial background. (PMID:18544996)
- gamma-Synuclein is selectively and abundantly expressed in human retinal ganglion cells (RGCs) in vivo, primary rat RGCs in vitro, and immortalized RGC-5 cells. (PMID:18728752)
- SNCG methylation is cell type-specific and the gene is hypermethylated in some urothelial cancers. (PMID:18803290)
- suggest an up-regulation of dioxin-inducible CYP1A1 and gamma-SYN occurs in endometriosis (PMID:18849443)
- Aberrant expression and demethylation of SNCG in colorectal cancer, correlated with progression of the disease. (PMID:19016751)
- synuclein-gamma is closely involved in perineural invasion/distant metastasis and is a significant prognostic factor in pancreatic cancer. (PMID:19351749)
- Our results showing the ability of gamma-Syn to regulate SERT activity suggests a novel role for gamma-Syn in the physiological regulation and maintenance of 5-HT homeostasis and clearance. (PMID:19429025)
- CCL2 and SNCG, combined with clinicopathologic features, may be used as accurate predictors of liver metastasis in colorectal cancer. (PMID:19706805)
- gamma-synuclein may play a positive role in the progression of colorectal cancer (PMID:19859996)
- Gamma-synuclein protein is valuable for evaluation of progression of colorectal carcinoma; it is more sensitive to predict advanced stage and lymph node invasion when combined with either alpha- or beta-synuclein protein. (PMID:20043104)
- SNCG interacts only with the 18kDa region of Hsp70 substrate binding domain and the TPR motif of BubR1. Based on the interactions of SNCG with N-BubR1 and ANK peptide, the common residues of SNCG that mediate these interactions were identified. (PMID:20437261)
- The upregulation of gamma-synuclein expression in colorectal cancer is primarily attributed to the demethylation of CpG islands. (PMID:20577925)
- Results indicate that ER-alpha36 is a new member of the ER-alpha family that mediates membrane-initiated estrogen signaling and that synuclein gamma can replace the function of heat shock protein 90. (PMID:20595634)
- SNCG overexpression is associated with colon cancer. (PMID:20604972)
- The reciprocal regulation of gamma-synuclein and IGF-I receptor expression creates a circuit that modulates IGF-I signaling. (PMID:20670935)
- members of the synuclein gene family, particularly SNCA and SNCG, affect the risk of developing diffuse lewy body disease. (PMID:20697047)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Sncg | ENSMUSG00000023064 |
| rattus_norvegicus | Sncg | ENSRNOG00000058006 |
Paralogs (2): SNCB (ENSG00000074317), SNCA (ENSG00000145335)
Protein
Protein identifiers
Gamma-synuclein — O76070 (reviewed: O76070)
Alternative names: Breast cancer-specific gene 1 protein, Persyn, Synoretin
All UniProt accessions (3): O76070, F8W754, Q6FHG5
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in neurofilament network integrity. May be involved in modulating axonal architecture during development and in the adult. In vitro, increases the susceptibility of neurofilament-H to calcium-dependent proteases. May also function in modulating the keratin network in skin. Activates the MAPK and Elk-1 signal transduction pathway.
Subunit / interactions. May be a centrosome-associated protein. Interacts with MYOC; affects its secretion and its aggregation.
Subcellular location. Cytoplasm. Perinuclear region. Cytoskeleton. Microtubule organizing center. Centrosome. Spindle.
Tissue specificity. Highly expressed in brain, particularly in the substantia nigra. Also expressed in the corpus callosum, heart, skeletal muscle, ovary, testis, colon and spleen. Weak expression in pancreas, kidney and lung.
Post-translational modifications. Phosphorylated. Phosphorylation by GRK5 appears to occur on residues distinct from the residue phosphorylated by other kinases.
Similarity. Belongs to the synuclein family.
RefSeq proteins (2): NP_001317049, NP_003078* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001058 | Synuclein | Family |
| IPR002462 | Synuclein_gamma | Family |
Pfam: PF01387
UniProt features (14 total): repeat 4, sequence conflict 3, modified residue 3, region of interest 2, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O76070-F1 | 76.14 | 0.10 |
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): 67, 72, 124
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 178 (showing top):
AP1_01, GOBP_BEHAVIOR, XU_GH1_AUTOCRINE_TARGETS_UP, GOBP_ADULT_BEHAVIOR, MODULE_45, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_NEUROTRANSMITTER_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_ADULT_LOCOMOTORY_BEHAVIOR, CAGCTG_AP4_Q5, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_SYNAPTIC_VESICLE_RECYCLING, GOBP_CELL_CELL_SIGNALING, GOBP_ORGANIC_HYDROXY_COMPOUND_TRANSPORT
GO Biological Process (7): chemical synaptic transmission (GO:0007268), adult locomotory behavior (GO:0008344), protein secretion (GO:0009306), regulation of dopamine secretion (GO:0014059), regulation of neurotransmitter secretion (GO:0046928), synaptic vesicle endocytosis (GO:0048488), synapse organization (GO:0050808)
GO Molecular Function (2): cuprous ion binding (GO:1903136), protein binding (GO:0005515)
GO Cellular Component (12): cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), centrosome (GO:0005813), spindle (GO:0005819), cytosol (GO:0005829), neuronal cell body (GO:0043025), axon terminus (GO:0043679), perinuclear region of cytoplasm (GO:0048471), extracellular exosome (GO:0070062), cytoskeleton (GO:0005856), axon (GO:0030424), synapse (GO:0045202)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| cytoplasm | 3 |
| intracellular membraneless organelle | 2 |
| anterograde trans-synaptic signaling | 1 |
| locomotory behavior | 1 |
| adult behavior | 1 |
| protein transport | 1 |
| secretion by cell | 1 |
| establishment of protein localization to extracellular region | 1 |
| protein localization to extracellular region | 1 |
| dopamine secretion | 1 |
| regulation of catecholamine secretion | 1 |
| neurotransmitter secretion | 1 |
| modulation of chemical synaptic transmission | 1 |
| regulation of neurotransmitter transport | 1 |
| regulation of secretion by cell | 1 |
| synaptic vesicle recycling | 1 |
| presynaptic endocytosis | 1 |
| cell junction organization | 1 |
| copper ion binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| microtubule cytoskeleton | 1 |
| somatodendritic compartment | 1 |
| cell body | 1 |
| neuron projection terminus | 1 |
| presynapse | 1 |
| distal axon | 1 |
| extracellular vesicle | 1 |
| neuron projection | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
1620 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SNCG | MYOC | Q99972 | 729 |
| SNCG | THY1 | P04216 | 710 |
| SNCG | POU4F2 | Q12837 | 590 |
| SNCG | APP | P05067 | 545 |
| SNCG | LAMP5 | Q9UJQ1 | 540 |
| SNCG | RBPMS | Q93062 | 539 |
| SNCG | ATOH7 | Q8N100 | 535 |
| SNCG | POU4F1 | Q01851 | 531 |
| SNCG | PLCB2 | Q00722 | 515 |
| SNCG | PFDN2 | Q9UHV9 | 489 |
| SNCG | SLC6A4 | P31645 | 476 |
| SNCG | NEFL | P07196 | 443 |
| SNCG | NRN1 | Q9NPD7 | 440 |
| SNCG | PCBP1 | Q15365 | 437 |
| SNCG | RHO | P08100 | 422 |
IntAct
34 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SNCG | TERF1 | psi-mi:“MI:0915”(physical association) | 0.510 |
| SIRT5 | SNCG | psi-mi:“MI:0915”(physical association) | 0.400 |
| SNCG | TERF2IP | psi-mi:“MI:0915”(physical association) | 0.370 |
| POT1 | SNCG | psi-mi:“MI:0915”(physical association) | 0.370 |
| Cenpe | BBX | psi-mi:“MI:0914”(association) | 0.350 |
| Bmpr1a | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| WIF1 | SMCHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| GPR173 | CDIPT | psi-mi:“MI:0914”(association) | 0.350 |
| CIDEB | SNCG | psi-mi:“MI:0914”(association) | 0.350 |
| POU4F3 | SNCG | psi-mi:“MI:0914”(association) | 0.350 |
| VCP | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | PITPNM1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| MAPT | DCTN6 | psi-mi:“MI:2364”(proximity) | 0.270 |
| MAPT | psi-mi:“MI:2364”(proximity) | 0.270 | |
| EXT2 | SNCG | psi-mi:“MI:0915”(physical association) | 0.000 |
| SNCG | MCM3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SNCG | FAM90A16P | psi-mi:“MI:0915”(physical association) | 0.000 |
| HNF4A | SNCG | psi-mi:“MI:0915”(physical association) | 0.000 |
| SNCG | FUBP1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SNCG | DDX5 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SNCG | MSN | psi-mi:“MI:0915”(physical association) | 0.000 |
| SNCG | psi-mi:“MI:0915”(physical association) | 0.000 | |
| SNCG | DYNLL1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SNRPN | SNCG | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (69): HN1 (Co-fractionation), SNCG (Affinity Capture-MS), SNCG (Affinity Capture-MS), SNCG (Affinity Capture-MS), SNCG (Affinity Capture-MS), SNCG (Affinity Capture-MS), DYNLL1 (Affinity Capture-MS), MCM3 (Affinity Capture-MS), FUBP1 (Affinity Capture-MS), SNCG (Affinity Capture-MS), BUB1B (Affinity Capture-Western), BUB1B (Reconstituted Complex), BUB1B (Two-hybrid), SNCG (Proximity Label-MS), SNCG (Two-hybrid)
ESM2 similar proteins: A0A0E4AVP3, A2XG55, A3AHG5, O36029, O55042, O76070, O94724, P01094, P0CU49, P16547, P22943, P23283, P33567, P37377, P37379, P37840, P53707, P61138, P61139, P61140, P61141, P61142, P61143, P61144, P61145, P61146, P61147, Q15847, Q16143, Q2PFW6, Q39846, Q3I5G7, Q3T0G8, Q42512, Q5XF06, Q63544, Q63754, Q6TMJ3, Q8LFD5, Q91448
Diamond homologs: O76070, P37379, P61147, Q2PFW6, Q63544, Q9NZ50, Q9Z0F7, O55042, P33567, P37377, P37840, P61138, P61139, P61140, P61141, P61142, P61143, P61144, P61145, P61146, Q16143, Q3I5G7, Q3T0G8, Q63754, Q91448
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| TBX5 | “down-regulates quantity by repression” | SNCG | “transcriptional regulation” |
| GRK2 | “down-regulates activity” | SNCG | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
31 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 21 |
| Likely benign | 1 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1025 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:86958786:C:G | donor_gain | 1.0000 |
| 10:86958800:G:GT | donor_gain | 1.0000 |
| 10:86958803:G:GT | donor_gain | 1.0000 |
| 10:86958815:GTGG:G | donor_gain | 1.0000 |
| 10:86958817:GG:G | donor_gain | 1.0000 |
| 10:86958818:GG:G | donor_gain | 1.0000 |
| 10:86958820:TAAG:T | donor_loss | 1.0000 |
| 10:86959673:AGG:A | donor_loss | 1.0000 |
| 10:86959674:GG:G | donor_loss | 1.0000 |
| 10:86959675:GT:G | donor_loss | 1.0000 |
| 10:86959676:T:A | donor_loss | 1.0000 |
| 10:86962598:CTACA:C | acceptor_loss | 1.0000 |
| 10:86962601:CA:C | acceptor_loss | 1.0000 |
| 10:86962603:G:A | acceptor_loss | 1.0000 |
| 10:86962661:G:GT | donor_gain | 1.0000 |
| 10:86958734:G:GT | donor_gain | 0.9900 |
| 10:86958779:G:GT | donor_gain | 0.9900 |
| 10:86958807:TC:T | donor_gain | 0.9900 |
| 10:86958819:G:GG | donor_gain | 0.9900 |
| 10:86958821:AA:A | donor_loss | 0.9900 |
| 10:86959627:CCCCA:C | acceptor_loss | 0.9900 |
| 10:86959628:CCCA:C | acceptor_loss | 0.9900 |
| 10:86959631:A:AG | acceptor_gain | 0.9900 |
| 10:86959632:G:A | acceptor_loss | 0.9900 |
| 10:86959632:G:GG | acceptor_gain | 0.9900 |
| 10:86959999:A:AG | acceptor_gain | 0.9900 |
| 10:86959999:AGT:A | acceptor_gain | 0.9900 |
| 10:86960000:G:GA | acceptor_gain | 0.9900 |
| 10:86960000:GT:G | acceptor_gain | 0.9900 |
| 10:86960000:GTG:G | acceptor_gain | 0.9900 |
AlphaMissense
827 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:86958729:C:A | A11D | 0.998 |
| 10:86958782:G:C | A29P | 0.997 |
| 10:86958785:G:C | A30P | 0.996 |
| 10:86960024:G:C | A63P | 0.995 |
| 10:86960069:G:C | A78P | 0.995 |
| 10:86958786:C:A | A30D | 0.994 |
| 10:86958716:G:C | G7R | 0.993 |
| 10:86958717:G:A | G7D | 0.992 |
| 10:86958720:T:C | F8S | 0.992 |
| 10:86958728:G:C | A11P | 0.992 |
| 10:86958803:G:A | G36R | 0.992 |
| 10:86958803:G:C | G36R | 0.992 |
| 10:86960003:G:C | A56P | 0.992 |
| 10:86960070:C:A | A78D | 0.992 |
| 10:86958762:C:T | T22I | 0.991 |
| 10:86958766:G:C | K23N | 0.991 |
| 10:86958766:G:T | K23N | 0.991 |
| 10:86958761:A:C | T22P | 0.990 |
| 10:86958749:G:C | A18P | 0.989 |
| 10:86958803:G:T | G36W | 0.989 |
| 10:86958807:T:A | V37D | 0.989 |
| 10:86960090:G:C | A85P | 0.989 |
| 10:86958770:G:A | G25R | 0.988 |
| 10:86958770:G:C | G25R | 0.988 |
| 10:86958799:G:C | K34N | 0.988 |
| 10:86958799:G:T | K34N | 0.988 |
| 10:86958794:A:C | T33P | 0.987 |
| 10:86958737:G:C | G14R | 0.986 |
| 10:86958733:G:C | K12N | 0.985 |
| 10:86958733:G:T | K12N | 0.985 |
dbSNP variants (sampled 300 via entrez): RS1000069376 (10:86958989 A>G), RS1000381601 (10:86961934 A>G), RS1000705529 (10:86963047 C>G,T), RS1000985153 (10:86963224 T>A), RS1001473450 (10:86958039 A>G), RS1001779013 (10:86963294 G>A), RS1002553132 (10:86956774 G>A,T), RS1003047231 (10:86962342 C>A), RS1003086421 (10:86960575 G>A,C), RS1003143042 (10:86961368 G>A,T), RS1003150594 (10:86956522 T>C), RS1003175517 (10:86961551 T>C), RS1003302770 (10:86959632 GGAGCCAAGACCAA>G), RS1003403732 (10:86956165 C>CCCACCA), RS1003425820 (10:86962120 C>T)
Disease associations
OMIM: gene MIM:602998 | 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)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: other protein — Synuclein proteins
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases methylation, increases expression | 3 |
| Air Pollutants | decreases expression, increases abundance, increases expression | 2 |
| Calcitriol | increases expression, affects cotreatment | 2 |
| Nickel | affects expression, decreases expression, decreases reaction | 2 |
| Valproic Acid | affects expression, decreases expression, increases methylation | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| bufotalin | decreases expression | 1 |
| bisphenol A | decreases expression | 1 |
| methylselenic acid | increases expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, decreases expression, affects localization, increases expression | 1 |
| trichostatin A | decreases reaction, affects expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| tetrahydropalmatine | decreases expression | 1 |
| beta-lapachone | increases expression | 1 |
| methylparaben | decreases expression | 1 |
| sulforaphane | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| cupric chloride | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Decitabine | affects methylation, affects expression | 1 |
| Cadmium | decreases expression | 1 |
| Carmustine | increases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Diazinon | increases methylation | 1 |
| Furaldehyde | affects cotreatment, affects localization, decreases expression, increases expression | 1 |
| Rotenone | decreases expression | 1 |
| Sodium Chloride | decreases expression, increases expression, affects cotreatment, affects localization | 1 |
| Tamoxifen | decreases response to substance | 1 |
| Testosterone | affects cotreatment, increases expression | 1 |
Cellosaurus cell lines
2 cell lines: 1 cancer cell line, 1 telomerase immortalized cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2GU | Abcam HeLa SNCG KO | Cancer cell line | Female |
| CVCL_C3KH | N/Tert-1 SNCG | Telomerase immortalized cell line | Male |
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.