SYN2 (synapsin II)

Gene

• Entrez ID: 6854
• Gene name: Synapsin II
• Gene symbol: SYN2
• Synonyms (NCBI Gene): SYNII
• Chromosome: 3
• Chromosome location: 3p25.2
• Summary: This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptog

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1405397	hsa-miR-1	CLIP-seq
MIRT1405398	hsa-miR-206	CLIP-seq
MIRT1405399	hsa-miR-3121-3p	CLIP-seq
MIRT1405400	hsa-miR-3190	CLIP-seq
MIRT1405401	hsa-miR-3202	CLIP-seq
MIRT1405402	hsa-miR-4495	CLIP-seq
MIRT1405403	hsa-miR-4533	CLIP-seq
MIRT1405404	hsa-miR-548c-3p	CLIP-seq
MIRT1405405	hsa-miR-613	CLIP-seq
MIRT1405406	hsa-miR-105	CLIP-seq
MIRT1405407	hsa-miR-1285	CLIP-seq
MIRT1405408	hsa-miR-133a	CLIP-seq
MIRT1405409	hsa-miR-133b	CLIP-seq
MIRT1405410	hsa-miR-2278	CLIP-seq
MIRT1405411	hsa-miR-3150a-3p	CLIP-seq
MIRT1405412	hsa-miR-3150b-3p	CLIP-seq
MIRT1405413	hsa-miR-3175	CLIP-seq
MIRT1405414	hsa-miR-3187-5p	CLIP-seq
MIRT1405415	hsa-miR-323b-5p	CLIP-seq
MIRT1405416	hsa-miR-329	CLIP-seq
MIRT1405417	hsa-miR-362-3p	CLIP-seq
MIRT1405418	hsa-miR-3689d	CLIP-seq
MIRT1405419	hsa-miR-378g	CLIP-seq
MIRT1405420	hsa-miR-3936	CLIP-seq
MIRT1405421	hsa-miR-431	CLIP-seq
MIRT1405422	hsa-miR-4314	CLIP-seq
MIRT1405423	hsa-miR-432	CLIP-seq
MIRT1405424	hsa-miR-4420	CLIP-seq
MIRT1405425	hsa-miR-4443	CLIP-seq
MIRT1405426	hsa-miR-4486	CLIP-seq
MIRT1405427	hsa-miR-4667-5p	CLIP-seq
MIRT1405428	hsa-miR-4700-5p	CLIP-seq
MIRT1405429	hsa-miR-4784	CLIP-seq
MIRT1405430	hsa-miR-522	CLIP-seq
MIRT1405431	hsa-miR-612	CLIP-seq
MIRT1405432	hsa-miR-657	CLIP-seq
MIRT1405433	hsa-miR-765	CLIP-seq
MIRT1405434	hsa-miR-939	CLIP-seq
MIRT1405410	hsa-miR-2278	CLIP-seq
MIRT2121600	hsa-miR-25	CLIP-seq
MIRT2121601	hsa-miR-3163	CLIP-seq
MIRT2121602	hsa-miR-32	CLIP-seq
MIRT2121603	hsa-miR-335	CLIP-seq
MIRT2121604	hsa-miR-34a	CLIP-seq
MIRT2121605	hsa-miR-34c-5p	CLIP-seq
MIRT2121606	hsa-miR-363	CLIP-seq
MIRT2121607	hsa-miR-367	CLIP-seq
MIRT2121608	hsa-miR-4468	CLIP-seq
MIRT2121609	hsa-miR-449a	CLIP-seq
MIRT2121610	hsa-miR-449b	CLIP-seq
MIRT2121611	hsa-miR-4731-3p	CLIP-seq
MIRT2121612	hsa-miR-4801	CLIP-seq
MIRT2121613	hsa-miR-92a	CLIP-seq
MIRT2121614	hsa-miR-92b	CLIP-seq
MIRT2343636	hsa-miR-1292	CLIP-seq
MIRT2343637	hsa-miR-3122	CLIP-seq
MIRT2343638	hsa-miR-3913-5p	CLIP-seq
MIRT2343639	hsa-miR-4471	CLIP-seq
MIRT1405412	hsa-miR-3150b-3p	CLIP-seq
MIRT1405423	hsa-miR-432	CLIP-seq
MIRT1405424	hsa-miR-4420	CLIP-seq
MIRT1405425	hsa-miR-4443	CLIP-seq
MIRT1405427	hsa-miR-4667-5p	CLIP-seq
MIRT1405428	hsa-miR-4700-5p	CLIP-seq
MIRT1405429	hsa-miR-4784	CLIP-seq
MIRT1405433	hsa-miR-765	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
EGR1	Unknown	7592648
ETV4	Unknown	7592648

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	23406870, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	TAS	15217342
GO:0005886	Component	Plasma membrane	IEA
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	8964517
GO:0007269	Process	Neurotransmitter secretion	IEA
GO:0007269	Process	Neurotransmitter secretion	IEA
GO:0007269	Process	Neurotransmitter secretion	ISS
GO:0008021	Component	Synaptic vesicle	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0017156	Process	Calcium-ion regulated exocytosis	IEA
GO:0030672	Component	Synaptic vesicle membrane	IBA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	ISS
GO:0031201	Component	SNARE complex	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0045202	Component	Synapse	IEA
GO:0045202	Component	Synapse	ISS
GO:0050808	Process	Synapse organization	IBA
GO:0097091	Process	Synaptic vesicle clustering	IBA
GO:0097091	Process	Synaptic vesicle clustering	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099504	Process	Synaptic vesicle cycle	IEA

Other IDs

• MIM: 600755
• HGNC: 11495
• e!Ensembl: ENSG00000157152

Protein

• UniProt ID: Q92777
• Protein name: Synapsin-2 (Synapsin II)
• Protein function: Neuronal phosphoprotein that coats synaptic vesicles, binds to the cytoskeleton, and is believed to function in the regulation of neurotransmitter release. May play a role in noradrenaline secretion by sympathetic neurons (By similarity). {ECO:0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10581	Synapsin_N	2 → 39	Synapsin N-terminal	Domain
  PF02078	Synapsin	111 → 212	Synapsin, N-terminal domain	Domain
  PF02750	Synapsin_C	214 → 416	Synapsin, ATP binding domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Central and peripheral nervous systems.
• Sequence:

  MMNFLRRRLSDSSFIANLPNGYMTDLQRPEPQQPPPPPPPGPGAASASAAPPTASPGPER
  RPPPASAPAPQPAPTPSVGSSFFSSLSQAVKQTAASAGLVDAPAPAPAAARKAKVLLVVD
  EPHADWAKCFRGKKVLGDYDIKVEQAEFSELNLVAHADGTYAVDMQVLRNGTKVVRSFRP
  DFVLIRQHAFGMAENEDFRHLIIGMQYAGLPSINSLESIYNFCDKPWVFAQLVAIYKTLG
  GEKFPLIEQTYYPNHKEMLTLPTFPVVVKIGHAHSGMGKVKVENHYDFQDIASVVALTQT
  YATAEPFIDSKYDIRVQKIGNNYKAYMRTSISGNWKTNTGSAMLEQIAMSDRYKLWVDTC
  SEMFGGLDICAVKAVHGKDGKDYIFEVMDCSMPLIGEHQVEDRQLITELVISKMNQLLSR
  TPALSPQRPLTTQQPQSGTLKDPDSSKTPPQRPPPQGGPGQPQGMQPPGKVLPPRRLPPG
  PSLPPSSSSSSSSSSSAPQRPGGPTTHGDAPSSSSSLAEAQPPLAAPPQKPQPHPQLNKS
  QSLTNAFSFSESSFFRSSANEDEAKAETIRSLRKSFASLFSD

• Sequence length: 582

Pathways

Reactome:

Serotonin Neurotransmitter Release Cycle
Dopamine Neurotransmitter Release Cycle

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHAGIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALGESIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC OSTEONECROSIS OF THE FEMORAL HEAD	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NECROTIZING ENTEROCOLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar CTD, ClinVar, Disgenet, GWAS catalog CTD, ClinVar, Disgenet, GWAS catalog CTD, ClinVar, Disgenet, GWAS catalog CTD, ClinVar, Disgenet, GWAS catalog CTD, ClinVar, Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYN2-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	39650656	Associate	★☆☆☆☆ Found in Text Mining only
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	28922833		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	28922833		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	23956174, 28922833		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	23956174		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	19665806, 23529008, 27515700		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	22384280, 27515700	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	29763751	Associate	★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	18701217		★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	18701217		★☆☆☆☆ Found in Text Mining only
Delusions	Delusions	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	27515700	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28115395, 30785256		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28115395, 30785256		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	21084393, 32948839	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Neuralgia	Diabetic Neuralgia	BEFREE	30785256		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	27184832		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	20034013, 21465568, 25595263, 28087765, 28922833, 30858140		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	22571925	Associate	★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	18701217		★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	18701217		★☆☆☆☆ Found in Text Mining only
Hairy Cell Leukemia	Hairy Cell Leukemia	BEFREE	14562116		★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	25088614		★☆☆☆☆ Found in Text Mining only
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	18701217		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	27515700		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	BEFREE	27515700		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	27515700	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	37894766	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	36992419	Inhibit	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30666415		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	32948839	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	29763751		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	29763751	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	11086983, 15271586, 15449241, 17766091, 19665806, 22807112, 23529008, 29436999, 30582667		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	LHGDN	15271586, 15449241, 17766091		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	Pubtator	22571925, 23529008	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Single Seizure	Seizure	CTD_human_DG	18701217		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	18701217		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	27515700		★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	BEFREE	15579294		★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	18701217		★☆☆☆☆ Found in Text Mining only