Sptbn2 spectrin beta, non-erythrocytic 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sptbn2provided by MGI
Official Full Name: spectrin beta, non-erythrocytic 2provided by MGI
Primary source: MGI:MGI:1313261
See related: Ensembl:ENSMUSG00000067889 AllianceGenome:MGI:1313261
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Spnb3
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]
Expression: Biased expression in cortex adult (RPKM 49.2), frontal lobe adult (RPKM 46.9) and 7 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 A; 19 4.1 cM

Exon count:: 37

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (4761236..4804006)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (4711208..4753978)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Loss of EAAT4 accounts for the initial hyper-excitability of Purkinje cells lacking b-III spectrin and that loss of GLAST appears to work synergistically to worsen motor deficits. When levels of both EAAT4 and GLAST are compromised in b-III(-/-) mice, the proximal dendrites of Purkinje cells within the posterior cerebellum are the most vulnerable to degeneration.
Title: Posterior cerebellar Purkinje cells in an SCA5/SPARCA1 mouse model are especially vulnerable to the synergistic effect of loss of β-III spectrin and GLAST.
TGF-beta/beta2-spectrin/CTCF-regulated tumor suppression in human stem cell disorder Beckwith-Wiedemann syndrome.
Title: TGF-β/β2-spectrin/CTCF-regulated tumor suppression in human stem cell disorder Beckwith-Wiedemann syndrome.
Study shows a direct interaction between beta-III spectrin and erythroid ankyrin in the cerebellum and to demonstrate a critical role for beta-III spectrin in maintaining ankyrin R throughout the Purkinje cell dendritic tree.
Title: β-III spectrin underpins ankyrin R function in Purkinje cell dendritic trees: protein complex critical for sodium channel activity is impaired by SCA5-associated mutations.
This study demonistrated that beta-III spectrin is critical for development of purkinje cell dendritic tree and spine morphogenesis.
Title: β-III spectrin is critical for development of purkinje cell dendritic tree and spine morphogenesis.
Beta-III spectrin mutation L253P interferes with binding to Arp1 and protein trafficking from the Golgi.
Title: Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi.
betaIII spectrin disruption impairs synaptogenesis by disturbing the intracellular pathways selectively regulating protein trafficking to the synapse
Title: Targeted deletion of betaIII spectrin impairs synaptogenesis and generates ataxic and seizure phenotypes.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1)
Targeted (3) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

UniSTS:224954 (e-PCR)
- UniSTS:224954

AI228952 (e-PCR)
- UniSTS:261865

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of postsynapse	IDA Inferred from Direct Assay more info	PubMed
enables structural constituent of postsynapse	IMP Inferred from Mutant Phenotype more info	PubMed
enables structural constituent of synapse	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within adult behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cerebellar Purkinje cell layer morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in postsynapse organization	IDA Inferred from Direct Assay more info	PubMed
involved_in postsynapse organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of postsynaptic specialization assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of postsynaptic specialization assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within synapse assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synaptic vesicle exocytosis	ISO Inferred from Sequence Orthology more info
involved_in vesicle-mediated transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi membrane	ISO Inferred from Sequence Orthology more info
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in cell junction	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cell projection	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cortical actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in endosome	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
is_active_in parallel fiber to Purkinje cell synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in parallel fiber to Purkinje cell synapse	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in paranodal junction	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
located_in photoreceptor inner segment	ISO Inferred from Sequence Orthology more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info	PubMed
is_active_in postsynaptic spectrin-associated cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
is_active_in presynapse	IDA Inferred from Direct Assay more info	PubMed
part_of spectrin	ISO Inferred from Sequence Orthology more info
located_in synaptic vesicle	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: spectrin beta chain, non-erythrocytic 2

Names: beta-spectrin 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_021287.2 → NP_067262.1 spectrin beta chain, non-erythrocytic 2

See identical proteins and their annotated locations for NP_067262.1

Status: VALIDATED

Source sequence(s)

AC147618, BC079860, BE993578, CJ119420

Consensus CDS

CCDS29434.1

UniProtKB/TrEMBL

Q3UGZ4, Q68FG2

Related

ENSMUSP00000008991.7, ENSMUST00000008991.8

Conserved Domains (5) summary

smart00150
Location:2018 → 2075

SPEC; Spectrin repeats

COG5069
Location:51 → 441

SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]

cd00176
Location:534 → 746

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cd10571
Location:2221 → 2326

PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain

pfam00435
Location:429 → 522

Spectrin; Spectrin repeat