SYNPR (synaptoporin)

Gene

• Entrez ID: 132204
• Gene name: Synaptoporin
• Gene symbol: SYNPR
• Synonyms (NCBI Gene): SPO
• Chromosome: 3
• Chromosome location: 3p14.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017484	hsa-miR-335-5p	Microarray	18185580
MIRT052365	hsa-let-7a-5p	CLASH	23622248
MIRT050282	hsa-miR-25-3p	CLASH	23622248
MIRT049284	hsa-miR-92a-3p	CLASH	23622248
MIRT037207	hsa-miR-877-5p	CLASH	23622248
MIRT036821	hsa-miR-877-3p	CLASH	23622248
MIRT1406714	hsa-miR-186	CLIP-seq
MIRT1406715	hsa-miR-3161	CLIP-seq
MIRT1406716	hsa-miR-3973	CLIP-seq
MIRT1406717	hsa-miR-450b-5p	CLIP-seq
MIRT1406718	hsa-miR-4762-3p	CLIP-seq
MIRT1406719	hsa-miR-4775	CLIP-seq
MIRT1406720	hsa-miR-489	CLIP-seq
MIRT1406721	hsa-miR-518a-5p	CLIP-seq
MIRT1406722	hsa-miR-526b	CLIP-seq
MIRT1406723	hsa-miR-527	CLIP-seq
MIRT1406724	hsa-miR-548l	CLIP-seq
MIRT1406725	hsa-miR-578	CLIP-seq
MIRT1406726	hsa-miR-590-3p	CLIP-seq
MIRT2121959	hsa-miR-3591-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 33961781
GO:0008021	Component	Synaptic vesicle	IEA
GO:0016020	Component	Membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	IBA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0045202	Component	Synapse	IEA

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• UniProt ID: Q8TBG9
• Protein name: Synaptoporin
• Protein function: Intrinsic membrane protein of small synaptic vesicles. Probable vesicular channel protein (By similarity).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01284	MARVEL	2 → 196	Membrane-associating domain	Domain

• Sequence:

  MCMVIFAPLFAIFAFATCGGYSGGLRLSVDCVNKTESNLSIDIAFAYPFRLHQVTFEVPT
  CEGKERQKLALIGDSSSSAEFFVTVAVFAFLYSLAATVVYIFFQNKYRENNRGPLIDFIV
  TVVFSFLWLVGSSAWAKGLSDVKVATDPKEVLLLMSACKQPSNKCMAIHSPVMSSLNTSV
  VFGFLNFILWAGNIWFVFKETGWHSSGQRYLSDPMEKHSSSYNQGGYNQDSYGSSSGYSQ
  QASLGPTSDEFGQQPTGPTSFTNQI

• Sequence length: 265

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
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANAPHYLAXIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE HEPATITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL LEFT-SIDED HEART LESIONS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GESTATIONAL DIABETES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Bipolar Disorder	Bipolar disorder	Pubtator	32339108	Associate	★☆☆☆☆ Found in Text Mining only
HYPOPLASTIC LEFT HEART SYNDROME 1	Hypoplastic Left Heart Syndrome	GWASCAT_DG	25138779		★☆☆☆☆ Found in Text Mining only
HYPOPLASTIC LEFT HEART SYNDROME 2	Hypoplastic Left Heart Syndrome	GWASCAT_DG	25138779		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	GWASDB_DG	20852631		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	32339108	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	33157921	Associate	★☆☆☆☆ Found in Text Mining only