SYT14
geneOn this page
Also known as sytXIVFLJ34198
Summary
SYT14 (synaptotagmin 14, HGNC:23143) is a protein-coding gene on chromosome 1q32.2, encoding Synaptotagmin-14 (Q8NB59). May be involved in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues.
This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate membrane trafficking in synaptic transmission. The encoded protein is a calcium-independent synaptotagmin. Mutations in this gene are a cause of autosomal recessive spinocerebellar ataxia-11 (SCAR11), and a t(1;3) translocation of this gene has been associated with neurodevelopmental abnormalities. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4.
Source: NCBI Gene 255928 — RefSeq curated summary.
At a glance
- Gene–disease (curated): autosomal recessive spinocerebellar ataxia 11 (Supportive, GenCC)
- GWAS associations: 15
- Clinical variants (ClinVar): 136 total — 1 pathogenic, 1 likely-pathogenic
- Phenotypes (HPO): 18
- Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
- MANE Select transcript:
NM_001146262
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23143 |
| Approved symbol | SYT14 |
| Name | synaptotagmin 14 |
| Location | 1q32.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | sytXIV, FLJ34198 |
| Ensembl gene | ENSG00000143469 |
| Ensembl biotype | protein_coding |
| OMIM | 610949 |
| Entrez | 255928 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 7 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000367015, ENST00000367019, ENST00000399639, ENST00000472886, ENST00000534859, ENST00000537238, ENST00000637265, ENST00000637945, ENST00000652023, ENST00000699295
RefSeq mRNA: 7 — MANE Select: NM_001146262
NM_001146261, NM_001146262, NM_001146264, NM_001256006, NM_001397544, NM_001397545, NM_153262
CCDS: CCDS31014, CCDS53470, CCDS58058, CCDS91157
Canonical transcript exons
ENST00000367019 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001443254 | 209938217 | 209938277 |
| ENSE00001443255 | 210160729 | 210171315 |
| ENSE00003523023 | 209952709 | 209952756 |
| ENSE00003804324 | 210013633 | 210013797 |
| ENSE00003805936 | 210159421 | 210159477 |
| ENSE00003806100 | 210100012 | 210100461 |
| ENSE00003807877 | 210021039 | 210021254 |
| ENSE00003808025 | 210155721 | 210155910 |
| ENSE00003809888 | 210094322 | 210094593 |
Expression profiles
Bgee: expression breadth broad, 89 present calls, max score 85.78.
FANTOM5 (CAGE): breadth broad, TPM avg 4.0062 / max 186.5970, expressed in 690 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 8376 | 2.4359 | 562 |
| 8375 | 0.8954 | 380 |
| 8373 | 0.2585 | 141 |
| 8372 | 0.2375 | 127 |
| 8374 | 0.1075 | 36 |
| 8371 | 0.0714 | 25 |
Top tissues by expression
222 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.78 | gold quality |
| cortical plate | UBERON:0005343 | 80.81 | gold quality |
| islet of Langerhans | UBERON:0000006 | 80.21 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 79.73 | gold quality |
| ganglionic eminence | UBERON:0004023 | 75.88 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 73.05 | gold quality |
| cerebellar cortex | UBERON:0002129 | 72.99 | gold quality |
| stromal cell of endometrium | CL:0002255 | 72.82 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 72.58 | gold quality |
| cerebellum | UBERON:0002037 | 71.25 | gold quality |
| ventricular zone | UBERON:0003053 | 71.00 | gold quality |
| adenohypophysis | UBERON:0002196 | 69.02 | gold quality |
| prefrontal cortex | UBERON:0000451 | 68.30 | gold quality |
| pituitary gland | UBERON:0000007 | 68.14 | gold quality |
| corpus callosum | UBERON:0002336 | 66.87 | gold quality |
| adrenal tissue | UBERON:0018303 | 66.46 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 65.72 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 63.96 | gold quality |
| thyroid gland | UBERON:0002046 | 63.21 | gold quality |
| hypothalamus | UBERON:0001898 | 63.12 | gold quality |
| right frontal lobe | UBERON:0002810 | 63.06 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 62.93 | gold quality |
| neocortex | UBERON:0001950 | 62.87 | gold quality |
| frontal cortex | UBERON:0001870 | 62.45 | gold quality |
| nucleus accumbens | UBERON:0001882 | 62.17 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 62.13 | gold quality |
| testis | UBERON:0000473 | 61.49 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 61.35 | gold quality |
| brain | UBERON:0000955 | 61.17 | gold quality |
| amygdala | UBERON:0001876 | 61.05 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ENAD-27 | yes | 10.88 |
| E-GEOD-83139 | yes | 8.67 |
| E-ANND-3 | yes | 6.30 |
| E-MTAB-5061 | yes | 5.85 |
| E-MTAB-6379 | no | 4.77 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
227 targeting SYT14, 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-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-3162-3P | 100.00 | 65.37 | 363 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-557 | 99.96 | 70.01 | 1640 |
Functional genomics
ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map
Literature-anchored findings (GeneRIF, showing 5)
- Constitutional rearrangement of SYT14 may contribute to macrocephaly, cerebral atrophy, seizures and developmental delay. (PMID:17304550)
- A homozygous missense mutation in SYT14, encoding synaptotagmin XIV was identified in a Japanese family in which two siblings have slow progression of a type of autosomal-recessive cerebellar ataxias. (PMID:21835308)
- New DNA sequencing technologies are enabling us to investigate the whole or large targeted proportions of the genome in a rapid, affordable, and comprehensive way. Exome and targeted sequencing SYT14 genes causing ataxia. (PMID:22527681)
- Whole-exome and targeted sequencing have defined the genetic basis of dizziness including new genes causing ataxia: GBA2, TGM6, ANO10 and SYT14 (PMID:24275721)
- SYT14 mRNA expression was detected in the three glioma cell lines, and was highest in the U87MG cell line. The RNAi-mediated knockdown of SYT14 significantly decreased cell proliferation and colony formation in U87MG cells, and caused a moderate increase in apoptosis. Fewer S phase cells and more G2/M phase cells were observed. (PMID:29634997)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | syt14a | ENSDARG00000010934 |
| mus_musculus | Syt14 | ENSMUSG00000016200 |
| rattus_norvegicus | Syt14 | ENSRNOG00000046139 |
Paralogs (31): SYT7 (ENSG00000011347), SYT13 (ENSG00000019505), SYT1 (ENSG00000067715), RPH3A (ENSG00000089169), SYTL4 (ENSG00000102362), SYT17 (ENSG00000103528), SYT10 (ENSG00000110975), SYT5 (ENSG00000129990), SYT11 (ENSG00000132718), SYT4 (ENSG00000132872), SYT6 (ENSG00000134207), SYTL2 (ENSG00000137501), SYT16 (ENSG00000139973), SYTL1 (ENSG00000142765), SYT2 (ENSG00000143858), SYTL5 (ENSG00000147041), SYT8 (ENSG00000149043), DOC2A (ENSG00000149927), SYTL3 (ENSG00000164674), TC2N (ENSG00000165929), SYT9 (ENSG00000170743), SYT12 (ENSG00000173227), RPH3AL (ENSG00000181031), C2CD4C (ENSG00000183186), C2CD4A (ENSG00000198535), SYT15 (ENSG00000204176), C2CD4B (ENSG00000205502), SYT3 (ENSG00000213023), C2CD4D (ENSG00000225556), DOC2B (ENSG00000272636), SYT15B (ENSG00000277758)
Protein
Protein identifiers
Synaptotagmin-14 — Q8NB59 (reviewed: Q8NB59)
Alternative names: Synaptotagmin XIV
All UniProt accessions (5): Q8NB59, A0A0A0MTK4, A0A1B0GTF1, A0A1B0GTZ1, A0A8V8TN09
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. Is Ca(2+)-independent.
Subunit / interactions. Homodimer. Can also form heterodimers.
Subcellular location. Membrane.
Tissue specificity. Highly expressed in fetal and adult brain tissue.
Disease relevance. Spinocerebellar ataxia, autosomal recessive, 11 (SCAR11) [MIM:614229] A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR11 is associated with psychomotor retardation. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the synaptotagmin family.
Isoforms (7)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8NB59-1 | 1 | yes |
| Q8NB59-2 | 2 | |
| Q8NB59-3 | 3 | |
| Q8NB59-4 | 4 | |
| Q8NB59-5 | 5 | |
| Q8NB59-6 | 6 | |
| Q8NB59-7 | 7 |
RefSeq proteins (7): NP_001139733, NP_001139734, NP_001139736, NP_001242935, NP_001384473, NP_001384474, NP_694994 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000008 | C2_dom | Domain |
| IPR035892 | C2_domain_sf | Homologous_superfamily |
| IPR043541 | SYT14/14L/16 | Family |
Pfam: PF00168
UniProt features (21 total): splice variant 8, sequence conflict 3, topological domain 2, sequence variant 2, domain 2, region of interest 2, chain 1, transmembrane region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NB59-F1 | 65.50 | 0.29 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 111 (showing top):
ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, GSE13762_CTRL_VS_125_VITAMIND_DAY12_DC_DN, GOMF_LIPID_BINDING, GOMF_PHOSPHOLIPID_BINDING, MEISSNER_BRAIN_HCP_WITH_H3K4ME3_AND_H3K27ME3, MEISSNER_NPC_HCP_WITH_H3K4ME2_AND_H3K27ME3, HOELZEL_NF1_TARGETS_UP, VDR_Q6, CHAMP1_TARGET_GENES, E2F5_TARGET_GENES, MIER1_TARGET_GENES, ZNF30_TARGET_GENES, ZNF618_TARGET_GENES, MIR3662, MIR607
GO Biological Process (0):
GO Molecular Function (2): phospholipid binding (GO:0005543), identical protein binding (GO:0042802)
GO Cellular Component (1): membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| lipid binding | 1 |
| protein binding | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
566 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SYT14 | FOSB | P53539 | 648 |
| SYT14 | ANO10 | Q9NW15 | 584 |
| SYT14 | SERTAD4 | Q9NUC0 | 519 |
| SYT14 | GAL3ST4 | Q96RP7 | 465 |
| SYT14 | SYT2 | Q8N9I0 | 462 |
| SYT14 | AFG3L2 | Q9Y4W6 | 455 |
| SYT14 | LRRN1 | Q6UXK5 | 424 |
| SYT14 | CDADC1 | Q9BWV3 | 417 |
| SYT14 | COQ8A | Q8NI60 | 404 |
| SYT14 | GCNT4 | Q9P109 | 388 |
| SYT14 | ATXN10 | Q9UBB4 | 385 |
| SYT14 | RIMS2 | Q9UQ26 | 381 |
| SYT14 | SYT12 | Q8IV01 | 380 |
| SYT14 | OR13F1 | Q8NGS4 | 376 |
| SYT14 | TAFA5 | Q7Z5A7 | 375 |
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| USP7 | SYT14 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
BioGRID (4): SYT14 (Affinity Capture-Western), SYT14 (Synthetic Lethality), SYT14 (Affinity Capture-RNA), SYT14 (Protein-peptide)
ESM2 similar proteins: A0FGR8, A4IJ05, A7MBL8, F1QGZ6, O08625, O08874, O54785, P15056, P24507, P28028, P34908, P53666, P53670, P53671, Q00944, Q04982, Q07139, Q16513, Q32L23, Q4VX76, Q5FWL4, Q5R8Q5, Q5RCK6, Q5SPC5, Q62136, Q62728, Q62807, Q6XYQ8, Q7TN84, Q80T23, Q812E4, Q86SS6, Q8BWW9, Q8N9U0, Q8NB59, Q8TDW5, Q8VHQ7, Q920M7, Q925C0, Q96C24
Diamond homologs: Q17RD7, Q58G82, Q5HZI2, Q7TN83, Q7TN84, Q8NB59, A4IJ05, O43581, P34693, P41823, P47708, P47709, P59926, P97610, Q06846, Q5R8Q5, Q62747, Q62807, Q8C6N3, Q8IV01, Q8NBV8, Q920M7, Q920N7, Q925B4, Q9BQS2, Q9BSW7, Q9H2B2, Q9R0N6, Q9R0N7, Q9Y2J0, X6R8R1, P24507, Q99N80
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
136 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 1 |
| Uncertain significance | 85 |
| Likely benign | 22 |
| Benign | 20 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 30861 | NM_001146262.4(SYT14):c.1316G>A (p.Gly439Asp) | Pathogenic |
| 432092 | NM_001146262.4(SYT14):c.13+1G>A | Likely pathogenic |
SpliceAI
3158 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:209952705:ATAGG:A | acceptor_loss | 1.0000 |
| 1:209952706:TAGG:T | acceptor_loss | 1.0000 |
| 1:209952707:A:AT | acceptor_loss | 1.0000 |
| 1:209952708:G:T | acceptor_loss | 1.0000 |
| 1:209952757:G:C | donor_loss | 1.0000 |
| 1:209952758:T:A | donor_loss | 1.0000 |
| 1:210013631:A:AG | acceptor_gain | 1.0000 |
| 1:210013632:G:GG | acceptor_gain | 1.0000 |
| 1:210013632:GT:G | acceptor_gain | 1.0000 |
| 1:210013793:AATTT:A | donor_gain | 1.0000 |
| 1:210013794:ATTT:A | donor_gain | 1.0000 |
| 1:210013795:TTT:T | donor_gain | 1.0000 |
| 1:210013796:TT:T | donor_gain | 1.0000 |
| 1:210013796:TTG:T | donor_loss | 1.0000 |
| 1:210013797:TGTA:T | donor_loss | 1.0000 |
| 1:210013798:G:GG | donor_gain | 1.0000 |
| 1:210013798:GTA:G | donor_loss | 1.0000 |
| 1:210013799:T:TC | donor_loss | 1.0000 |
| 1:210013800:AAGT:A | donor_loss | 1.0000 |
| 1:210013801:AG:A | donor_loss | 1.0000 |
| 1:210015162:A:AG | acceptor_gain | 1.0000 |
| 1:210021033:A:AG | acceptor_gain | 1.0000 |
| 1:210021034:A:G | acceptor_gain | 1.0000 |
| 1:210021036:TA:T | acceptor_loss | 1.0000 |
| 1:210021037:A:AG | acceptor_gain | 1.0000 |
| 1:210021037:AGATA:A | acceptor_loss | 1.0000 |
| 1:210021038:G:GA | acceptor_gain | 1.0000 |
| 1:210021038:GA:G | acceptor_gain | 1.0000 |
| 1:210021038:GAT:G | acceptor_gain | 1.0000 |
| 1:210021038:GATA:G | acceptor_gain | 1.0000 |
AlphaMissense
3770 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:210100127:T:C | L277P | 1.000 |
| 1:210100202:T:C | L302P | 1.000 |
| 1:210100268:T:C | F324S | 1.000 |
| 1:210100325:T:A | V343D | 1.000 |
| 1:210100331:T:C | F345S | 1.000 |
| 1:210100337:T:C | L347P | 1.000 |
| 1:210155824:T:C | L423P | 1.000 |
| 1:210155829:T:G | Y425D | 1.000 |
| 1:210155845:G:A | G430E | 1.000 |
| 1:210155851:T:C | L432P | 1.000 |
| 1:210155871:G:C | G439R | 1.000 |
| 1:210160738:T:A | V455D | 1.000 |
| 1:210160750:T:C | L459P | 1.000 |
| 1:210160849:C:A | A492D | 1.000 |
| 1:210160854:T:C | F494L | 1.000 |
| 1:210160856:T:A | F494L | 1.000 |
| 1:210160856:T:G | F494L | 1.000 |
| 1:210160861:T:C | L496P | 1.000 |
| 1:210160876:T:C | L501P | 1.000 |
| 1:210160888:T:A | V505E | 1.000 |
| 1:210160926:G:C | G518R | 1.000 |
| 1:210160927:G:A | G518D | 1.000 |
| 1:210160941:G:C | G523R | 1.000 |
| 1:210160942:G:A | G523D | 1.000 |
| 1:210160942:G:T | G523V | 1.000 |
| 1:210160977:T:A | W535R | 1.000 |
| 1:210160977:T:C | W535R | 1.000 |
| 1:210160978:G:C | W535S | 1.000 |
| 1:210160979:G:C | W535C | 1.000 |
| 1:210160979:G:T | W535C | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000003766 (1:210042913 G>T), RS1000009397 (1:210027513 G>A), RS1000034855 (1:210000884 A>G), RS1000037799 (1:209999587 C>T), RS1000047591 (1:210128993 A>G,T), RS1000048582 (1:209957080 T>A,G), RS1000052459 (1:210086272 A>C,G), RS1000090300 (1:209993205 C>T), RS1000096424 (1:209999165 C>T), RS1000109524 (1:210120340 G>A), RS1000118230 (1:210036776 A>G), RS1000126188 (1:209945127 C>A), RS1000170439 (1:209942866 T>A), RS1000196581 (1:210079520 C>T), RS1000202184 (1:209936845 A>G,T)
Disease associations
OMIM: gene MIM:610949 | disease phenotypes: MIM:614229
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| autosomal recessive spinocerebellar ataxia 11 | Supportive | Autosomal recessive |
Mondo (1): autosomal recessive spinocerebellar ataxia 11 (MONDO:0013645)
Orphanet (1): Autosomal recessive cerebellar ataxia-psychomotor delay syndrome (Orphanet:284271)
HPO phenotypes
18 total (18 of 18 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000617 | Abnormality of ocular smooth pursuit |
| HP:0000639 | Nystagmus |
| HP:0001249 | Intellectual disability |
| HP:0001251 | Ataxia |
| HP:0001260 | Dysarthria |
| HP:0001263 | Global developmental delay |
| HP:0001272 | Cerebellar atrophy |
| HP:0001288 | Gait disturbance |
| HP:0002015 | Dysphagia |
| HP:0002070 | Limb ataxia |
| HP:0002078 | Truncal ataxia |
| HP:0002317 | Unsteady gait |
| HP:0003677 | Slowly progressive |
| HP:0006855 | Cerebellar vermis atrophy |
| HP:0007772 | Impaired smooth pursuit |
| HP:0007979 | Gaze-evoked horizontal nystagmus |
| HP:0011463 | Childhood onset |
GWAS associations
15 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003089_3 | Manic episodes in bipolar disorder | 7.000000e-06 |
| GCST003996_12 | Monobrow | 2.000000e-11 |
| GCST004866_6 | Alopecia areata | 2.000000e-06 |
| GCST006270_1 | Drug-induced liver injury in interferon-beta-treated multiple sclerosis | 2.000000e-08 |
| GCST006946_19 | Worry too long after an embarrassing experience | 4.000000e-08 |
| GCST008295_36 | Number of decayed, missing and filled tooth surfaces or use of dentures | 2.000000e-08 |
| GCST008306_24 | Dentures | 7.000000e-08 |
| GCST008522_13 | Bitter alcoholic beverage consumption | 1.000000e-07 |
| GCST008757_8 | Alcohol consumption | 1.000000e-10 |
| GCST008810_49 | Smoking initiation (ever regular vs never regular) | 3.000000e-08 |
| GCST009665_11 | Breast cancer | 8.000000e-07 |
| GCST010002_351 | Refractive error | 1.000000e-13 |
| GCST010988_269 | Adult body size | 2.000000e-10 |
| GCST90000050_8 | Age at first birth | 3.000000e-10 |
| GCST90020053_1 | Frailty index | 1.000000e-09 |
EFO canonical traits (8, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007706 | manic or hypomanic episode |
| EFO:0007906 | synophrys measurement |
| EFO:0009589 | worry measurement |
| EFO:0010078 | dentures |
| EFO:0010092 | bitter alcoholic beverage consumption measurement |
| EFO:0005670 | smoking initiation |
| EFO:0009101 | age at first birth measurement |
| EFO:0009885 | frailty measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs2205986 | SYT14 | 3 | 3.50 | 1 | interferon beta-1a;interferon beta-1b |
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, decreases methylation | 7 |
| bisphenol A | increases expression, decreases methylation | 2 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 2 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 2 |
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| perfluorotetradecanoic acid | increases expression | 1 |
| titanium dioxide | increases expression | 1 |
| trichostatin A | increases expression | 1 |
| mono-(2-ethylhexyl)phthalate | decreases expression | 1 |
| perfluorooctanoic acid | affects expression | 1 |
| manganese chloride | increases abundance, increases expression, affects cotreatment | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| chromium hexavalent ion | 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 | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| incobotulinumtoxinA | increases expression | 1 |
| MT19c compound | increases expression | 1 |
| Decitabine | decreases expression, decreases reaction | 1 |
| Vorinostat | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
| Manganese | increases abundance, increases expression, affects cotreatment | 1 |
| Silicon Dioxide | increases expression | 1 |
| Smoke | decreases expression, decreases reaction | 1 |
| Gold Compounds | increases expression | 1 |
| Particulate Matter | increases abundance, increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: autosomal recessive spinocerebellar ataxia 11
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): alopecia areata, autosomal recessive spinocerebellar ataxia 11, drug-induced liver injury