Sptbn2 - spectrin beta, non-erythrocytic 2 Gene

Mus musculus

Also known as Spnb3

Gene ID: 20743 | Gene type: protein coding

About Sptbn2

Summary

A structural constituent of synapse. Involved in postsynapse organization. Acts upstream of or within adult behavior; cerebellar Purkinje cell layer morphogenesis; and synapse assembly. Located in apical plasma membrane; neuronal cell body; and paranodal junction. Is active in several cellular components, including glutamatergic synapse; parallel fiber to Purkinje cell synapse; and postsynaptic spectrin-associated Cytoskeleton. Is expressed in several structures, including alimentary system; central nervous system; eye; genitourinary system; and skin. Used to study spinocerebellar ataxia type 5. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 14 and spinocerebellar ataxia type 5. Orthologous to human SPTBN2 (spectrin beta, non-erythrocytic 2). [provided by Alliance of Genome Resources, Apr 2022]

Sptbn2 Products(1)

mRNA	Protein	Name
NM_021287.2	NP_067262.1	spectrin beta chain, non-erythrocytic 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables structural constituent of postsynapse	IDA IDA: Inferred from direct assay	28576936	MGI
enables structural constituent of postsynapse	IMP IMP: Inferred from mutant phenotype	28576936	MGI

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within adult behavior	IMP IMP: Inferred from mutant phenotype	20231455	MGI
acts upstream of or within cerebellar Purkinje cell layer morphogenesis	IMP IMP: Inferred from mutant phenotype	20231455	MGI
acts upstream of or within multicellular organism growth	IMP IMP: Inferred from mutant phenotype	20231455	MGI
involved in postsynapse organization	IDA IDA: Inferred from direct assay	22090485	MGI
involved in postsynapse organization	IMP IMP: Inferred from mutant phenotype	22090485	MGI
involved in regulation of postsynaptic specialization assembly	IDA IDA: Inferred from direct assay	28576936	MGI
involved in regulation of postsynaptic specialization assembly	IMP IMP: Inferred from mutant phenotype	28576936	MGI
acts upstream of or within synapse assembly	IMP IMP: Inferred from mutant phenotype	20231455	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
located in apical plasma membrane	IDA IDA: Inferred from direct assay	21705333	MGI
is active in glutamatergic synapse	IDA IDA: Inferred from direct assay	22090485	MGI
is active in glutamatergic synapse	IMP IMP: Inferred from mutant phenotype	22090485	MGI
located in neuronal cell body	IDA IDA: Inferred from direct assay	18796539	MGI
is active in parallel fiber to Purkinje cell synapse	IDA IDA: Inferred from direct assay	22090485	MGI
is active in parallel fiber to Purkinje cell synapse	IMP IMP: Inferred from mutant phenotype	22090485	MGI
is active in paranodal junction	IDA IDA: Inferred from direct assay	16687515	MGI
is active in postsynaptic spectrin-associated cytoskeleton	IDA IDA: Inferred from direct assay	28576936	MGI
is active in presynapse	IDA IDA: Inferred from direct assay	3531427	MGI

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

Protein Preferred Names

Protein Names

spectrin beta chain, non-erythrocytic 2

beta-spectrin 3

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13733	SPTBN2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Sptbn2	NCBI	NCBI:6712

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