Sptbn4 - spectrin beta, non-erythrocytic 4 Gene

Mus musculus

Also known as qv; dyn; lnd; SpbIV; Spnb4; ROSA62; nmf261; nmf379; 1700022P15Rik; 5830426A08Rik

Gene ID: 80297 | Gene type: protein coding

About Sptbn4

Summary

Enables actin binding activity; ankyrin binding activity; and spectrin binding activity. Involved in clustering of voltage-gated sodium channels and protein localization to plasma membrane. Acts upstream of or within several processes, including adult walking behavior; regulation of heart contraction; and regulation of peptidyl-serine phosphorylation. Located in several cellular components, including axon; cell body fiber; and intercalated disc. Colocalizes with adherens junction. Is expressed in several structures, including liver; neural ectoderm; optic vesicle; spinal cord lateral wall; and spleen. Orthologous to human SPTBN4 (spectrin beta, non-erythrocytic 4). [provided by Alliance of Genome Resources, Apr 2022]

Sptbn4 Products(4)

mRNA	Protein	Name
NM_001199234.1	NP_001186163.1	spectrin beta chain, non-erythrocytic 4 isoform sigma6
NM_001199235.1	NP_001186164.1	spectrin beta chain, non-erythrocytic 4 isoform sigma6
NM_001199236.1	NP_001186165.1	spectrin beta chain, non-erythrocytic 4 isoform sigma6
NM_032610.2	NP_115999.2	spectrin beta chain, non-erythrocytic 4 isoform sigma1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables actin binding	IDA IDA: Inferred from direct assay	20877009	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	20877009	MGI
enables spectrin binding	IDA IDA: Inferred from direct assay	20877009	MGI

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within adult behavior	IMP IMP: Inferred from mutant phenotype	1634998	MGI
acts upstream of or within adult walking behavior	IMP IMP: Inferred from mutant phenotype	1634998	MGI
acts upstream of or within axonogenesis	IMP IMP: Inferred from mutant phenotype	1634998	MGI
acts upstream of or within cardiac conduction	IMP IMP: Inferred from mutant phenotype	20877009	MGI
acts upstream of or within central nervous system projection neuron axonogenesis	IMP IMP: Inferred from mutant phenotype	17197442	MGI
acts upstream of or within clustering of voltage-gated sodium channels	IMP IMP: Inferred from mutant phenotype	17197442	MGI
acts upstream of or within fertilization	IMP IMP: Inferred from mutant phenotype	1634998	MGI
acts upstream of or within negative regulation of heart rate	IMP IMP: Inferred from mutant phenotype	20877009	MGI
acts upstream of or within neuromuscular junction development	IMP IMP: Inferred from mutant phenotype	20962009	MGI
acts upstream of or within neuromuscular process	IMP IMP: Inferred from mutant phenotype	20962009	MGI
acts upstream of or within positive regulation of multicellular organism growth	IMP IMP: Inferred from mutant phenotype	1634998	MGI
acts upstream of or within protein localization	IMP IMP: Inferred from mutant phenotype	20877009	MGI
involved in protein localization	IMP IMP: Inferred from mutant phenotype	16687515	MGI
acts upstream of or within protein localization to plasma membrane	IMP IMP: Inferred from mutant phenotype	20962009	MGI
acts upstream of or within protein-containing complex assembly	IMP IMP: Inferred from mutant phenotype	20962009	MGI
acts upstream of or within regulation of peptidyl-serine phosphorylation	IDA IDA: Inferred from direct assay	20877009	MGI
acts upstream of or within regulation of sodium ion transport	IMP IMP: Inferred from mutant phenotype	20877009	MGI
acts upstream of or within reproductive process	IMP IMP: Inferred from mutant phenotype	17197442	MGI
acts upstream of or within sensory perception of sound	IMP IMP: Inferred from mutant phenotype	15381686	MGI
acts upstream of or within transmission of nerve impulse	IMP IMP: Inferred from mutant phenotype	15381686	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
located in axon	IDA IDA: Inferred from direct assay	15381686	MGI
located in axon hillock	IDA IDA: Inferred from direct assay	15381686	MGI
located in axon initial segment	IDA IDA: Inferred from direct assay	20877009	MGI
located in cell body fiber	IDA IDA: Inferred from direct assay	18796539	MGI
located in intercalated disc	IDA IDA: Inferred from direct assay	26187182	MGI
is active in juxtaparanode region of axon	IMP IMP: Inferred from mutant phenotype	20962009	MGI
located in neuronal cell body	IDA IDA: Inferred from direct assay	20877009	MGI
is active in node of Ranvier	IMP IMP: Inferred from mutant phenotype	16687515	MGI
located in paranode region of axon	IDA IDA: Inferred from direct assay	20188654	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 4

beta-spectrin 4	lumbosacral neuroaxonal dystrophy
neuroaxonal dystrophy	quivering
spectrin beta 4

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13734	SPTBN4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Sptbn4	NCBI	NCBI:57731

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