Identity
HGNC
LOCATION
6q25.2
LOCUSID
ALIAS
8B,AMC3,AMCM,ARCA1,C6orf98,CPG2,EDMD4,KASH1,MYNE1,Nesp1,SCAR8,dJ45H2.2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 23345
MIM: 608441
HGNC: 17089
Ensembl: ENSG00000131018
Variants:
dbSNP: 23345
ClinVar: 23345
TCGA: ENSG00000131018
COSMIC: SYNE1
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Cell Cycle | REACTOME | R-HSA-1640170 |
| Meiosis | REACTOME | R-HSA-1500620 |
| Meiotic synapsis | REACTOME | R-HSA-1221632 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38716726 | 2024 | Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension. | 0 |
| 38716726 | 2024 | Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension. | 0 |
| 37762518 | 2023 | SYNE1 Mutation Is Associated with Increased Tumor Mutation Burden and Immune Cell Infiltration in Ovarian Cancer. | 2 |
| 37762518 | 2023 | SYNE1 Mutation Is Associated with Increased Tumor Mutation Burden and Immune Cell Infiltration in Ovarian Cancer. | 2 |
| 30610203 | 2021 | Genetic variants in the bipolar disorder risk locus SYNE1 that affect CPG2 expression and protein function. | 9 |
| 32889669 | 2021 | Autosomal Recessive Cerebellar Ataxia Type 1: Phenotypic and Genetic Correlation in a Cohort of Chinese Patients with SYNE1 Variants. | 7 |
| 33472039 | 2021 | Structures of FHOD1-Nesprin1/2 complexes reveal alternate binding modes for the FH3 domain of formins. | 6 |
| 30610203 | 2021 | Genetic variants in the bipolar disorder risk locus SYNE1 that affect CPG2 expression and protein function. | 9 |
| 32889669 | 2021 | Autosomal Recessive Cerebellar Ataxia Type 1: Phenotypic and Genetic Correlation in a Cohort of Chinese Patients with SYNE1 Variants. | 7 |
| 33472039 | 2021 | Structures of FHOD1-Nesprin1/2 complexes reveal alternate binding modes for the FH3 domain of formins. | 6 |
| 32281752 | 2020 | SYNE1-QK1 SNPs, G × G and G × E interactions on the risk of hyperlipidaemia. | 7 |
| 32281752 | 2020 | SYNE1-QK1 SNPs, G × G and G × E interactions on the risk of hyperlipidaemia. | 7 |
| 30573412 | 2019 | SYNE1-ataxia: Novel genotypic and phenotypic findings. | 9 |
| 31049853 | 2019 | Cognitive and Psychiatric Evaluation in SYNE1 Ataxia. | 4 |
| 31236099 | 2019 | Association of SYNE1 locus with bipolar disorder in Chinese population. | 4 |
Citation
Dessen P
SYNE1 (spectrin repeat containing nuclear envelope protein 1)
Atlas Genet Cytogenet Oncol Haematol. 2008-10-01
Online version: http://atlasgeneticsoncology.org/gene/50407/syne1-(spectrin-repeat-containing-nuclear-envelope-protein-1)
