STON2 - stonin 2 Gene

Homo sapiens

Also known as STN2; STNB; STNB2

Gene ID: 85439 | Gene type: protein coding

About STON2

Cytogenetic location: 14q31.1 Genomic coordinates (GRCh38): 14:81,260,652-81,436,465 (from NCBI)

This gene has 9 transcripts (splice variants), 165 orthologues and 7 paralogues. Broad expression in brain (RPKM 5.7), spleen (RPKM 3.8) and 19 other tissues.

Summary

This gene encodes a protein which is a membrane protein involved in regulating endocytotic complexes. The protein product is described as one of the clathrin-associated sorting proteins, adaptor molecules which ensure specific proteins are internalized. The encoded protein has also been shown to participate in synaptic vesicle recycling through interaction with synaptotagmin 1 required for neurotransmission. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

STON2 Products(4)

mRNA	Protein	Name
NM_001256430.3	NP_001243359.1	stonin-2 isoform 2
NM_001366849.2	NP_001353778.1	stonin-2 isoform 3
NM_001366850.2	NP_001353779.1	stonin-2 isoform 4
NM_001394390.1	NP_001381319.1	stonin-2 isoform 5

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	11454741	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in synaptic vesicle endocytosis	IGI IGI: Inferred from genetic interaction	21102408	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

STON2 Protein Structure

Stonin2_N

Adap_comp_sub

0
200
400
600
800
905 a.a.

Protein Preferred Names

Protein Names

stonin-2

stoned B homolog 2

STON2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	STON2	Q8WXE9	EPS15	Homo sapiens	P42566	NMR	18200045
Intra	STON2	Q8WXE9	EPS15	Homo sapiens	P42566	ITC	18200045
Intra	STON2	Q8WXE9	EPS15	Homo sapiens	P42566	Anti Bait CoIP	18200045
Cross	STON2	Q8WXE9	Syt1	Rattus norvegicus	P21707	Pull Down	11454741

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Keratoconus

Kc	Conical Cornea
Noninflammatory Corneal Thining	Bulging Cornea
Cornea Conical	Acquired Conus Of Cornea

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13953	STON2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	STON2	MGD	MGI:1918272
Rattus norvegicus	STON2	RGD	RGD:1311502
Macaca mulatta	STON2	VGNC	VGNC:78249
Bos taurus	STON2	VGNC	VGNC:35413
Felis catus	STON2	VGNC	VGNC:65796
Canis familiaris	STON2	VGNC	VGNC:46933

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