Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	132204
Gene name	Synaptoporin
Gene symbol	SYNPR
Synonyms (NCBI Gene)	SPO
Chromosome	3
Chromosome location	3p14.2

20 Show/Hide all (20)

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

8 Show/Hide all (8)

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

MIM	HGNC	e!Ensembl
HGNC	N/A	HGNC

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

Interactions

View interactions

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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (16)
ALZHEIMER DISEASE	—	GWAS catalog	35770850	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANAPHYLAXIS	—	GWAS catalog	40465716	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM	—	GWAS catalog	30675382	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE HEPATITIS	—	GWAS catalog	35184318	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	36810956	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	37359372	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	GWAS catalog	28468790	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL LEFT-SIDED HEART LESIONS	—	GWAS catalog	25138779	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULITIS	—	GWAS catalog	40465716	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GESTATIONAL DIABETES	—	GWAS catalog	38714721	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	36810956	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	36810956	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	29317602	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	38469033	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	30019117	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (6)
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

SYNPR (synaptoporin)

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