Sptbn2 - spectrin beta, non-erythrocytic 2 Gene
Also Known as Spnb3
Species: Mus musculus
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 |
| Molecular Function GO Annotation | Evidence | Références | 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 | Références | 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 | Références | 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 |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
spectrin beta chain, non-erythrocytic 2 |
|