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

Gene ID: 20743, updated on 27-Nov-2024

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 postsynapse. Involved in postsynapse organization and regulation of postsynaptic specialization assembly. Acts upstream of or within adult behavior; cerebellar Purkinje cell layer morphogenesis; and synapse assembly. Located in apical plasma membrane and neuronal cell body. Is active in several cellular components, including parallel fiber to Purkinje cell synapse; paranodal junction; 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, Nov 2024]
Expression
Biased expression in cortex adult (RPKM 49.2), frontal lobe adult (RPKM 46.9) and 7 other tissues See more
Orthologs
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Genomic context

See Sptbn2 in Genome Data Viewer
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_000085.7Genomic Context describing neighboring genes Neighboring gene microRNA 6986 Neighboring gene TOP6B like initiator of meiotic double strand breaks Neighboring gene Ras converting CAAX endopeptidase 1 Neighboring gene predicted gene 21992 Neighboring gene STARR-positive B cell enhancer ABC_E1967 Neighboring gene RNA binding motif protein 4B Neighboring gene proteasome (prosome, macropain) subunit, alpha type 3 pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Gene trapped (1) 
  • Targeted (3)  1 citation

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • KIAA0302, MGC99874

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
 
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

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)

  1. NM_021287.2NP_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:20182075
    SPEC; Spectrin repeats
    COG5069
    Location:51441
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00176
    Location:534746
    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:22212326
    PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
    pfam00435
    Location:429522
    Spectrin; Spectrin repeat

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000085.7 Reference GRCm39 C57BL/6J

    Range
    4761236..4804006
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)