SYNGR1
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Summary
SYNGR1 (synaptogyrin 1, HGNC:11498) is a protein-coding gene on chromosome 22q13.1, encoding Synaptogyrin-1 (O43759). May play a role in regulated exocytosis.
This gene encodes an integral membrane protein associated with presynaptic vesicles in neuronal cells. The exact function of this protein is unclear, but studies of a similar murine protein suggest that it functions in synaptic plasticity without being required for synaptic transmission. The gene product belongs to the synaptogyrin gene family. Three alternatively spliced variants encoding three different isoforms have been identified.
Source: NCBI Gene 9145 — RefSeq curated summary.
At a glance
- Gene–disease (curated): bipolar disorder (Limited, GenCC) — +1 more curated relationship
- GWAS associations: 52
- Clinical variants (ClinVar): 56 total
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_004711
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11498 |
| Approved symbol | SYNGR1 |
| Name | synaptogyrin 1 |
| Location | 22q13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000100321 |
| Ensembl biotype | protein_coding |
| OMIM | 603925 |
| Entrez | 9145 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 12 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000216155, ENST00000318801, ENST00000328933, ENST00000381535, ENST00000406293, ENST00000415332, ENST00000489206, ENST00000892372, ENST00000892373, ENST00000933677, ENST00000933678, ENST00000968127, ENST00000968128, ENST00000968129
RefSeq mRNA: 3 — MANE Select: NM_004711
NM_004711, NM_145731, NM_145738
CCDS: CCDS13989, CCDS13990, CCDS13991
Canonical transcript exons
ENST00000328933 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000654717 | 39374316 | 39374553 |
| ENSE00000880353 | 39381696 | 39385575 |
| ENSE00001884196 | 39349991 | 39350109 |
| ENSE00003687533 | 39376052 | 39376197 |
Expression profiles
Bgee: expression breadth ubiquitous, 298 present calls, max score 99.09.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.1795 / max 434.0774, expressed in 1629 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 192335 | 23.6587 | 1626 |
| 192334 | 0.3380 | 180 |
| 192338 | 0.1829 | 15 |
Top tissues by expression
304 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| Brodmann (1909) area 10 | UBERON:0013541 | 99.09 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 99.08 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 99.00 | gold quality |
| cerebellar cortex | UBERON:0002129 | 98.99 | gold quality |
| paraflocculus | UBERON:0005351 | 98.93 | gold quality |
| frontal pole | UBERON:0002795 | 98.63 | gold quality |
| cerebellum | UBERON:0002037 | 98.62 | gold quality |
| right frontal lobe | UBERON:0002810 | 98.31 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 98.12 | gold quality |
| prefrontal cortex | UBERON:0000451 | 98.00 | gold quality |
| cerebellar vermis | UBERON:0004720 | 97.88 | gold quality |
| frontal cortex | UBERON:0001870 | 97.64 | gold quality |
| frontal lobe | UBERON:0016525 | 97.64 | gold quality |
| cingulate cortex | UBERON:0003027 | 97.46 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 97.46 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 97.30 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 97.15 | gold quality |
| neocortex | UBERON:0001950 | 97.11 | gold quality |
| postcentral gyrus | UBERON:0002581 | 96.89 | gold quality |
| parietal lobe | UBERON:0001872 | 96.82 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 96.68 | gold quality |
| left ovary | UBERON:0002119 | 96.55 | gold quality |
| cerebral cortex | UBERON:0000956 | 96.39 | gold quality |
| right ovary | UBERON:0002118 | 95.97 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 95.56 | gold quality |
| telencephalon | UBERON:0001893 | 95.40 | gold quality |
| right atrium auricular region | UBERON:0006631 | 95.31 | gold quality |
| nucleus accumbens | UBERON:0001882 | 95.27 | gold quality |
| amygdala | UBERON:0001876 | 95.21 | gold quality |
| entorhinal cortex | UBERON:0002728 | 95.14 | gold quality |
Single-cell (SCXA)
Detected in 10 experiment(s), a significant marker in 9.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-98 | yes | 720.15 |
| E-MTAB-7407 | yes | 512.06 |
| E-MTAB-10042 | yes | 477.01 |
| E-HCAD-4 | yes | 151.89 |
| E-CURD-122 | yes | 23.36 |
| E-CURD-112 | yes | 19.27 |
| E-GEOD-135922 | yes | 9.59 |
| E-MTAB-9801 | yes | 3.20 |
| E-MTAB-7381 | no | 48.75 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
114 targeting SYNGR1, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-6748-5P | 100.00 | 65.81 | 1057 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-5010-5P | 99.94 | 64.11 | 705 |
| HSA-MIR-4525 | 99.94 | 64.38 | 675 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-1343-3P | 99.89 | 66.78 | 1815 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-4779 | 99.86 | 66.50 | 1583 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-636 | 99.80 | 69.58 | 1500 |
| HSA-MIR-4713-5P | 99.78 | 67.80 | 1794 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-2116-3P | 99.74 | 64.32 | 889 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6752-3P | 99.72 | 66.71 | 1587 |
Literature-anchored findings (GeneRIF, showing 6)
- This research found a novel nonsense mutation (Trp27Ter) in exon 2 of the SYNGR1 gene in a family multiply affected with schizophrenia. And expressed in the brain. (PMID:14732601)
- Our results support SYNGR1 as a probable susceptibility gene for schizophrenia and bipolar disorder. (PMID:16215643)
- These mutations were not found in 507 control subjects, suggesting further functional assays are warranted to verify their relevance to the pathogenesis of schizophrenia. (PMID:17049558)
- The results of association study support a contribution of SYNGR1 to schizophrenia susceptibility. (PMID:19641478)
- A case-control study with synaptogyrin 1 was conducted in 506 bipolar disorder patients and 507 healthy individuals from the Han Chinese population. No association was found in this study. (PMID:19665806)
- SYNGR1 was soluble and stable in a variety of mild detergents and multiple biophysical methods confirmed the folded state of the protein. (PMID:22675529)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | syngr1a | ENSDARG00000002564 |
| ENSDARG00000103577 | ||
| mus_musculus | Syngr1 | ENSMUSG00000022415 |
| rattus_norvegicus | Syngr1 | ENSRNOG00000017108 |
| drosophila_melanogaster | Syngr | FBGN0033876 |
Paralogs (3): SYNGR4 (ENSG00000105467), SYNGR2 (ENSG00000108639), SYNGR3 (ENSG00000127561)
Protein
Protein identifiers
Synaptogyrin-1 — O43759 (reviewed: O43759)
All UniProt accessions (4): O43759, A2A283, B5MCD7, F8WCE4
UniProt curated annotations — full annotation on UniProt →
Function. May play a role in regulated exocytosis. Modulates the localization of synaptophysin/SYP into synaptic-like microvesicles and may therefore play a role in synaptic-like microvesicle formation and/or maturation. Involved in the regulation of short-term and long-term synaptic plasticity.
Subcellular location. Cytoplasmic vesicle. Secretory vesicle. Synaptic vesicle membrane. Melanosome.
Similarity. Belongs to the synaptogyrin family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O43759-1 | 1A | yes |
| O43759-2 | 1B | |
| O43759-3 | 1C |
RefSeq proteins (3): NP_004702, NP_663783, NP_663791 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008253 | Marvel | Domain |
| IPR016579 | Synaptogyrin | Family |
Pfam: PF01284
UniProt features (27 total): helix 7, topological domain 5, transmembrane region 4, splice variant 2, sequence variant 2, turn 2, chain 1, domain 1, region of interest 1, compositionally biased region 1, modified residue 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8A6M | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O43759-F1 | 80.05 | 0.54 |
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 (1): 1
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-6798695 | Neutrophil degranulation |
| R-HSA-168249 | Innate Immune System |
| R-HSA-168256 | Immune System |
MSigDB gene sets: 216 (showing top):
GSE45365_NK_CELL_VS_CD11B_DC_UP, VERHAAK_AML_WITH_NPM1_MUTATED_DN, AP1_01, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_RESPONSE_TO_PEPTIDE, GOCC_VACUOLAR_MEMBRANE, GOCC_SECRETORY_GRANULE, GOBP_REGULATION_OF_NEURONAL_SYNAPTIC_PLASTICITY, GCANCTGNY_MYOD_Q6, GOBP_REGULATION_OF_SHORT_TERM_NEURONAL_SYNAPTIC_PLASTICITY, GOBP_PROTEIN_TARGETING, TGACCTY_ERR1_Q2, GOBP_VESICLE_MEDIATED_TRANSPORT, SHEPARD_BMYB_MORPHOLINO_DN, GOBP_CELL_CELL_SIGNALING
GO Biological Process (7): protein targeting (GO:0006605), regulated exocytosis (GO:0045055), regulation of long-term neuronal synaptic plasticity (GO:0048169), regulation of short-term neuronal synaptic plasticity (GO:0048172), synaptic vesicle membrane organization (GO:0048499), cellular response to leukemia inhibitory factor (GO:1990830), modulation of chemical synaptic transmission (GO:0050804)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (10): plasma membrane (GO:0005886), membrane (GO:0016020), synaptic vesicle membrane (GO:0030672), neuromuscular junction (GO:0031594), azurophil granule membrane (GO:0035577), melanosome (GO:0042470), Schaffer collateral - CA1 synapse (GO:0098685), synaptic vesicle (GO:0008021), cytoplasmic vesicle (GO:0031410), synapse (GO:0045202)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Innate Immune System | 1 |
| Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of neuronal synaptic plasticity | 2 |
| synapse | 2 |
| establishment of protein localization | 1 |
| exocytosis | 1 |
| endomembrane system organization | 1 |
| membrane organization | 1 |
| cellular response to cytokine stimulus | 1 |
| response to leukemia inhibitory factor | 1 |
| chemical synaptic transmission | 1 |
| regulation of trans-synaptic signaling | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
| synaptic vesicle | 1 |
| exocytic vesicle membrane | 1 |
| lysosomal membrane | 1 |
| secretory granule membrane | 1 |
| azurophil granule | 1 |
| pigment granule | 1 |
| exocytic vesicle | 1 |
| presynapse | 1 |
| cytoplasm | 1 |
| intracellular vesicle | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
1404 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SYNGR1 | SYNPR | Q8TBG9 | 917 |
| SYNGR1 | SYP | P08247 | 773 |
| SYNGR1 | SYT1 | P21579 | 676 |
| SYNGR1 | RAB3A | P20336 | 626 |
| SYNGR1 | STX1A | Q16623 | 615 |
| SYNGR1 | SV2B | Q7L1I2 | 557 |
| SYNGR1 | STXBP1 | P61764 | 545 |
| SYNGR1 | RPH3A | Q9Y2J0 | 501 |
| SYNGR1 | PRSS16 | Q9NQE7 | 486 |
| SYNGR1 | TEX2 | Q8IWB9 | 471 |
| SYNGR1 | PI4KA | P42356 | 469 |
| SYNGR1 | C3orf18 | Q9UK00 | 464 |
| SYNGR1 | CPLX1 | O14810 | 458 |
| SYNGR1 | OR13C5 | Q8NGS8 | 448 |
| SYNGR1 | SNAP25 | P13795 | 444 |
IntAct
17 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SYNGR1 | FATE1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FATE1 | SYNGR1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| YIPF3 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| SLC30A2 | ESYT2 | psi-mi:“MI:0914”(association) | 0.530 |
| SYNGR1 | CREB3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| E5 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| K8.1 | EXOC5 | psi-mi:“MI:0914”(association) | 0.350 |
| SYNGR1 | psi-mi:“MI:0914”(association) | 0.350 | |
| CMTM5 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| SYNGR1 | TNPO2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC6A12 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC7A14 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| P/V | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CFTR | UBA6 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (113): FATE1 (Two-hybrid), SYNGR1 (Affinity Capture-MS), SYNGR1 (Two-hybrid), CREB3 (Two-hybrid), FATE1 (Two-hybrid), SYNGR1 (Affinity Capture-MS), SYNGR1 (Affinity Capture-MS), SYNGR1 (Two-hybrid), SYNGR1 (Affinity Capture-MS), SYNGR1 (Two-hybrid), SYNGR1 (Two-hybrid), SYNGR1 (Two-hybrid), SYNGR1 (Two-hybrid), NDRG4 (Two-hybrid), HAS3 (Two-hybrid)
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.
Disease & clinical
Clinical variants and AI predictions
ClinVar
56 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 45 |
| Likely benign | 0 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1470 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:39350108:GG:G | donor_gain | 1.0000 |
| 22:39350108:GGGTA:G | donor_loss | 1.0000 |
| 22:39350109:GG:G | donor_gain | 1.0000 |
| 22:39350109:GGTA:G | donor_loss | 1.0000 |
| 22:39350110:G:GA | donor_loss | 1.0000 |
| 22:39350110:G:GG | donor_gain | 1.0000 |
| 22:39350111:T:G | donor_loss | 1.0000 |
| 22:39374314:AGCT:A | acceptor_gain | 1.0000 |
| 22:39374315:GC:G | acceptor_gain | 1.0000 |
| 22:39374315:GCT:G | acceptor_gain | 1.0000 |
| 22:39374315:GCTG:G | acceptor_gain | 1.0000 |
| 22:39374315:GCTGT:G | acceptor_gain | 1.0000 |
| 22:39376196:GG:G | donor_gain | 1.0000 |
| 22:39376197:GG:G | donor_gain | 1.0000 |
| 22:39377684:GCC:G | donor_gain | 1.0000 |
| 22:39378740:A:T | donor_gain | 1.0000 |
| 22:39381648:A:AG | acceptor_gain | 1.0000 |
| 22:39381906:GGC:G | donor_gain | 1.0000 |
| 22:39350115:G:GT | donor_gain | 0.9900 |
| 22:39374313:CAGCT:C | acceptor_loss | 0.9900 |
| 22:39374314:A:AG | acceptor_gain | 0.9900 |
| 22:39374315:G:GG | acceptor_gain | 0.9900 |
| 22:39374552:GG:G | donor_gain | 0.9900 |
| 22:39374553:GG:G | donor_gain | 0.9900 |
| 22:39374554:G:GG | donor_gain | 0.9900 |
| 22:39374557:AGCCC:A | donor_loss | 0.9900 |
| 22:39376010:T:G | acceptor_gain | 0.9900 |
| 22:39376014:T:TA | acceptor_gain | 0.9900 |
| 22:39376029:T:TA | acceptor_gain | 0.9900 |
| 22:39376033:C:CA | acceptor_gain | 0.9900 |
AlphaMissense
1518 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:39374517:C:A | R101S | 0.999 |
| 22:39376081:T:C | F123L | 0.999 |
| 22:39376083:C:A | F123L | 0.999 |
| 22:39376083:C:G | F123L | 0.999 |
| 22:39374391:T:C | C59R | 0.998 |
| 22:39374392:G:A | C59Y | 0.998 |
| 22:39374393:C:G | C59W | 0.998 |
| 22:39374439:G:C | G75R | 0.998 |
| 22:39374440:G:A | G75D | 0.998 |
| 22:39374518:G:C | R101P | 0.998 |
| 22:39374530:T:A | V105D | 0.998 |
| 22:39376069:T:A | W119R | 0.998 |
| 22:39376069:T:C | W119R | 0.998 |
| 22:39376102:T:A | W130R | 0.998 |
| 22:39376102:T:C | W130R | 0.998 |
| 22:39376104:G:C | W130C | 0.998 |
| 22:39376104:G:T | W130C | 0.998 |
| 22:39376154:C:A | A147D | 0.998 |
| 22:39376195:T:A | W161R | 0.998 |
| 22:39376195:T:C | W161R | 0.998 |
| 22:39374391:T:A | C59S | 0.997 |
| 22:39374392:G:C | C59S | 0.997 |
| 22:39374419:G:A | C68Y | 0.997 |
| 22:39374420:C:G | C68W | 0.997 |
| 22:39376091:T:C | L126P | 0.997 |
| 22:39376100:A:C | Q129P | 0.997 |
| 22:39376171:T:C | F153L | 0.997 |
| 22:39376173:C:A | F153L | 0.997 |
| 22:39376173:C:G | F153L | 0.997 |
| 22:39374326:T:A | I37K | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000093534 (22:39363708 G>T), RS1000187654 (22:39356116 G>A), RS1000364175 (22:39385267 T>G), RS1000366268 (22:39369402 C>G), RS1000381981 (22:39385172 C>G,T), RS1000520819 (22:39355087 C>T), RS1000839721 (22:39362421 T>G), RS1000857637 (22:39381109 A>G), RS1000896780 (22:39354050 G>A), RS1000990756 (22:39360141 T>C), RS1001041211 (22:39381403 T>A,C), RS1001066819 (22:39374863 G>A,C), RS1001083284 (22:39349195 G>A), RS1001102948 (22:39351747 G>A), RS1001152590 (22:39369799 T>C)
Disease associations
OMIM: gene MIM:603925 | disease phenotypes: MIM:181500
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| bipolar disorder | Limited | Autosomal dominant |
| schizophrenia | No Known Disease Relationship | Unknown |
Mondo (3): prostate cancer (MONDO:0008315), schizophrenia (MONDO:0005090), bipolar disorder (MONDO:0004985)
Orphanet (2): Familial prostate cancer (Orphanet:1331), NON RARE IN EUROPE: Schizophrenia (Orphanet:3140)
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0100753 | Schizophrenia |
GWAS associations
52 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001848_106 | IgG glycosylation | 2.000000e-06 |
| GCST001848_127 | IgG glycosylation | 6.000000e-10 |
| GCST001848_132 | IgG glycosylation | 2.000000e-15 |
| GCST001848_216 | IgG glycosylation | 6.000000e-16 |
| GCST001848_290 | IgG glycosylation | 5.000000e-10 |
| GCST001848_311 | IgG glycosylation | 3.000000e-08 |
| GCST001848_342 | IgG glycosylation | 2.000000e-10 |
| GCST001848_399 | IgG glycosylation | 3.000000e-13 |
| GCST001848_428 | IgG glycosylation | 3.000000e-09 |
| GCST001848_444 | IgG glycosylation | 2.000000e-10 |
| GCST001848_460 | IgG glycosylation | 1.000000e-10 |
| GCST001848_477 | IgG glycosylation | 3.000000e-09 |
| GCST001848_563 | IgG glycosylation | 1.000000e-24 |
| GCST001848_592 | IgG glycosylation | 1.000000e-16 |
| GCST001848_632 | IgG glycosylation | 9.000000e-24 |
| GCST001848_74 | IgG glycosylation | 9.000000e-06 |
| GCST001849_3 | IgG glycosylation | 3.000000e-08 |
| GCST001849_5 | IgG glycosylation | 2.000000e-10 |
| GCST001849_6 | IgG glycosylation | 9.000000e-06 |
| GCST002318_46 | Rheumatoid arthritis | 1.000000e-16 |
| GCST002318_47 | Rheumatoid arthritis | 6.000000e-12 |
| GCST002318_48 | Rheumatoid arthritis | 2.000000e-07 |
| GCST002408_17 | Response to methotrexate in juvenile idiopathic arthritis | 9.000000e-08 |
| GCST003129_13 | Primary biliary cholangitis | 2.000000e-11 |
| GCST004131_35 | Inflammatory bowel disease | 5.000000e-24 |
| GCST004132_19 | Crohn’s disease | 8.000000e-21 |
| GCST004133_57 | Ulcerative colitis | 3.000000e-10 |
| GCST004302_11 | Primary biliary cholangitis | 3.000000e-08 |
| GCST004924_5 | IgG monogalactosylation phenotypes (multivariate analysis) | 1.000000e-06 |
| GCST004925_5 | IgG N-glycosylation phenotypes (multivariate analysis) | 3.000000e-19 |
EFO canonical traits (11, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005193 | serum IgG glycosylation measurement |
| EFO:0008423 | IgG monogalactosylation measurement |
| EFO:0008424 | IgG digalactosylation measurement |
| EFO:0008425 | IgG galactosylation measurement |
| EFO:0008426 | IgG bisecting N-acetyl glucosamine measurement |
| EFO:0008427 | IgG fucosylation measurement |
| EFO:0008428 | IgG sialylation measurement |
| EFO:0008429 | IgG disialylation measurement |
| EFO:0003924 | hair color |
| EFO:0004630 | factor VIII measurement |
| EFO:0008589 | esterified cholesterol measurement |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D001714 | Bipolar Disorder | F03.600.150.500 |
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
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 |
|---|---|---|
| Valproic Acid | increases expression, affects expression | 3 |
| sodium arsenite | decreases expression, increases abundance | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| Decitabine | affects expression, affects cotreatment | 2 |
| Arsenic Trioxide | decreases expression | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Acetaminophen | decreases expression | 2 |
| Arsenic | affects methylation, decreases expression, increases abundance | 2 |
| Nickel | decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Smoke | decreases expression, increases abundance | 2 |
| triphenyl phosphate | affects expression | 1 |
| trichostatin A | increases expression | 1 |
| sulforaphane | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | increases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Vorinostat | affects cotreatment, affects expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
Clinical trials (associated diseases)
600 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00034580 | PHASE4 | COMPLETED | Olanzapine Versus Active Comparator in the Treatment of Bipolar I Disorder |
| NCT00044187 | PHASE4 | COMPLETED | The Assessment of a Weight-Gain Agent for the Treatment of Olanzapine-Associated Anti-Obesity Agent in Patients With Schizophrenia, Schizophreniform Disorder, Schizoaffective Disorder, and Bipolar I Disorder |
| NCT00044616 | PHASE4 | COMPLETED | Relapse Prevention for Bipolar Type-II Disorder |
| NCT00045916 | PHASE4 | COMPLETED | Optimizing Electroconvulsive Therapy for Depression |
| NCT00047567 | PHASE4 | TERMINATED | Open-label Adjunctive Zonisamide for Bipolar Disorder |
| NCT00048802 | PHASE4 | COMPLETED | Treatment and Outcome of Early Onset Bipolar Disorder |
| NCT00050206 | PHASE4 | COMPLETED | Olanzapine Versus Placebo in the Treatment of Mania in Adolescents With Bipolar I Disorder |
| NCT00067938 | PHASE4 | COMPLETED | Bipolar Study in Adults at Least 18 Years of Age |
| NCT00071253 | PHASE4 | TERMINATED | Depakote Monotherapy, Olanzapine Monotherapy, and Combination Therapy of Depakote Plus Olanzapine in Stable Subjects During the Maintenance Phase of Bipolar Illness |
| NCT00094549 | PHASE4 | COMPLETED | Olanzapine vs. Comparator and Placebo in the Treatment of Patients With Bipolar I Disorder |
| NCT00139074 | PHASE4 | TERMINATED | Seroquel in Acute Mania: Study to Investigate if Valproate Add-On Therapy is Superior to Quetiapine Monotherapy in Acutely Manic Patients |
| NCT00139594 | PHASE4 | COMPLETED | Open Label Extension Study of Licarbazepine in the Treatment of Manic Episodes of Bipolar I Disorder |
| NCT00154323 | PHASE4 | COMPLETED | The Efficacy and Safety of Oral Oxcarbazepine 300-1200 mg/Day as Adjuvant Therapy in the Treatment of Bipolar Disorder I or II This Study is Not Being Conducted in the United States. |
| NCT00167479 | PHASE4 | COMPLETED | A Study of Risperidone Monotherapy in Bipolar Anxiety |
| NCT00177567 | PHASE4 | COMPLETED | Treatment of Geriatric Bipolar Mood Disorders: A Pilot Study |
| NCT00181727 | PHASE4 | COMPLETED | Study of Depakote ER for the Treatment of Mania in Children Ages 6-12 With Bipolar Disorder |
| NCT00181779 | PHASE4 | COMPLETED | Aripiprazole for the Treatment of Mania in Children and Adolescents With Bipolar Disorder |
| NCT00181844 | PHASE4 | COMPLETED | Lamotrigine for the Treatment of Mania in Youth Ages 6-17 With Bipolar Disorder |
| NCT00181870 | PHASE4 | COMPLETED | Equetro for the Treatment of Mania in Children Ages 6-12 With Bipolar Disorder |
| NCT00181883 | PHASE4 | COMPLETED | Quetiapine for Mania In Preschool Children 4 to 6 Years of Age With Bipolar Disorder |
| NCT00181896 | PHASE4 | TERMINATED | Bupropion SR for Major Depression and Depression NOS in Children and Adolescents With Bipolar Disorder |
| NCT00181922 | PHASE4 | COMPLETED | Ziprasidone for the Treatment of Mania in Children and Adolescents With Bipolar Disorder |
| NCT00181935 | PHASE4 | COMPLETED | Risperidone Versus Olanzapine for Mania in Preschool Children 4 to 6 Years of Age With Bipolar Disorder |
| NCT00181987 | PHASE4 | COMPLETED | Concerta in the Treatment of ADHD in Youth and Adults With Bipolar Disorder |
| NCT00183469 | PHASE4 | COMPLETED | Maintenance Treatment of Bipolar Depression |
| NCT00186017 | PHASE4 | COMPLETED | Short Term Rescue Study of Olanzapine |
| NCT00188643 | PHASE4 | COMPLETED | Venlafaxine Versus Lamotrigine in the Treatment of Bipolar I/II Depression |
| NCT00190892 | PHASE4 | COMPLETED | Olanzapine Plus Carbamazepine in the Treatment of Bipolar I Mania |
| NCT00191997 | PHASE4 | COMPLETED | Optimal Length of Treatment Continuation With Olanzapine After Remission of Manic or Mixed Episode |
| NCT00194038 | PHASE4 | COMPLETED | Aripiprazole in Late Life Bipolar Disorder |
| NCT00195845 | PHASE4 | COMPLETED | A Double-Blind, Placebo-Controlled Study of Galantamine to Improve Cognitive Dysfunction in Bipolar Disorder |
| NCT00198198 | PHASE4 | COMPLETED | Aripiprazole Treatment of Bipolar Depression |
| NCT00199966 | PHASE4 | COMPLETED | Safety And Efficacy Study Of Depakote ER To Treat Pediatric Bipolar Disorder |
| NCT00202293 | PHASE4 | COMPLETED | Comparison of Combination Olanzapine+Lithium or Chlorpromazine+Lithium in Treatment of First Manic Episode With Psychotic Features |
| NCT00202306 | PHASE4 | COMPLETED | Indicated Prevention of Psychotic Disorders With Low-dose Lithium |
| NCT00203528 | PHASE4 | COMPLETED | Divalproex ER vs. Risperidone for Bipolar Disorder With Comorbid Substance Use Disorder |
| NCT00203567 | PHASE4 | COMPLETED | Carbamazepine Extended-Release for the Treatment of Bipolar Depression |
| NCT00205699 | PHASE4 | COMPLETED | Metabolic Effects of Antipsychotics in Children |
| NCT00208169 | PHASE4 | COMPLETED | Abilify Therapy for Reducing Comorbid Substance Abuse |
| NCT00208195 | PHASE4 | COMPLETED | Depakote ER Therapy for Mania Comorbid With Substance Abuse |
Related Atlas pages
- Associated diseases: bipolar disorder, schizophrenia
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): bipolar disorder, Crohn disease, inflammatory bowel disease, juvenile idiopathic arthritis, ovarian carcinoma, primary biliary cholangitis, prostate cancer, rheumatoid arthritis, schizophrenia, systemic lupus erythematosus, ulcerative colitis