SYNE1 (spectrin repeat containing nuclear envelope protein 1)

2008-10-01  

Identity

HGNC
SYNE1
LOCATION
6q25.2
LOCUSID
23345
ALIAS
8B,AMC3,AMCM,ARCA1,C6orf98,CPG2,EDMD4,KASH1,MYNE1,Nesp1,SCAR8,dJ45H2.2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23345
MIM: 608441
HGNC: 17089
Ensembl: ENSG00000131018

Variants:

dbSNP: 23345
ClinVar: 23345
TCGA: ENSG00000131018
COSMIC: SYNE1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000131018ENST00000341594E7ENN3
ENSG00000131018ENST00000354674F8WAI0
ENSG00000131018ENST00000367248F5GXQ8
ENSG00000131018ENST00000367251H0Y325
ENSG00000131018ENST00000367253Q8NF91
ENSG00000131018ENST00000367255Q8NF91
ENSG00000131018ENST00000367257H0Y326
ENSG00000131018ENST00000413186Q8NF91
ENSG00000131018ENST00000423061A0A0C4DG40
ENSG00000131018ENST00000448038E9PEL9
ENSG00000131018ENST00000454018A0A0C4DH48
ENSG00000131018ENST00000466159F5H4Q0
ENSG00000131018ENST00000469439H0YGD3
ENSG00000131018ENST00000474655H0YFT4
ENSG00000131018ENST00000495090F5H422
ENSG00000131018ENST00000537033F5GZ83
ENSG00000131018ENST00000537750F5GYQ7
ENSG00000131018ENST00000539504Q5JV20
ENSG00000131018ENST00000540663F5H6R8
ENSG00000131018ENST00000610489A0A087WYJ5

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Cell CycleREACTOMER-HSA-1640170
MeiosisREACTOMER-HSA-1500620
Meiotic synapsisREACTOMER-HSA-1221632

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
387167262024Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension.0
387167262024Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension.0
377625182023SYNE1 Mutation Is Associated with Increased Tumor Mutation Burden and Immune Cell Infiltration in Ovarian Cancer.2
377625182023SYNE1 Mutation Is Associated with Increased Tumor Mutation Burden and Immune Cell Infiltration in Ovarian Cancer.2
306102032021Genetic variants in the bipolar disorder risk locus SYNE1 that affect CPG2 expression and protein function.9
328896692021Autosomal Recessive Cerebellar Ataxia Type 1: Phenotypic and Genetic Correlation in a Cohort of Chinese Patients with SYNE1 Variants.7
334720392021Structures of FHOD1-Nesprin1/2 complexes reveal alternate binding modes for the FH3 domain of formins.6
306102032021Genetic variants in the bipolar disorder risk locus SYNE1 that affect CPG2 expression and protein function.9
328896692021Autosomal Recessive Cerebellar Ataxia Type 1: Phenotypic and Genetic Correlation in a Cohort of Chinese Patients with SYNE1 Variants.7
334720392021Structures of FHOD1-Nesprin1/2 complexes reveal alternate binding modes for the FH3 domain of formins.6
322817522020SYNE1-QK1 SNPs, G × G and G × E interactions on the risk of hyperlipidaemia.7
322817522020SYNE1-QK1 SNPs, G × G and G × E interactions on the risk of hyperlipidaemia.7
305734122019SYNE1-ataxia: Novel genotypic and phenotypic findings.9
310498532019Cognitive and Psychiatric Evaluation in SYNE1 Ataxia.4
312360992019Association 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/haematological-explorer/teaching-explorer/case-report-explorer/