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Sptbn4 spectrin beta, non-erythrocytic 4 [ Mus musculus (house mouse) ]

Gene ID: 80297, updated on 17-Jan-2023

Summary

Official Symbol
Sptbn4provided by MGI
Official Full Name
spectrin beta, non-erythrocytic 4provided by MGI
Primary source
MGI:MGI:1890574
See related
Ensembl:ENSMUSG00000011751 AllianceGenome:MGI:1890574
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
qv; dyn; lnd; SpbIV; Spnb4; ROSA62; nmf261; nmf379; 1700022P15Rik; 5830426A08Rik
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]
Expression
Biased expression in cerebellum adult (RPKM 27.3), cortex adult (RPKM 23.5) and 5 other tissues See more
Orthologs
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Genomic context

See Sptbn4 in Genome Data Viewer
Location:
7 A3; 7 15.88 cM
Exon count:
39
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (27055808..27147128, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (27356383..27447704, complement)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene latent transforming growth factor beta binding protein 4 Neighboring gene predicted gene, 30543 Neighboring gene Sh3kbp1 binding protein 1 Neighboring gene biliverdin reductase B (flavin reductase (NADPH)) Neighboring gene phosphoglycerate mutase 1, pseudogene 2

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)

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables actin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ankyrin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables ankyrin binding ISO
Inferred from Sequence Orthology
more info
 
enables ankyrin binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
enables phosphatase binding ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables spectrin binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within adult behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within adult walking behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within axonogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cardiac conduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in central nervous system projection neuron axonogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within central nervous system projection neuron axonogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within clustering of voltage-gated sodium channels IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in clustering of voltage-gated sodium channels IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within fertilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within negative regulation of heart rate IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within positive regulation of multicellular organism growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within protein localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein localization to plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of peptidyl-serine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within regulation of sodium ion transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within reproductive process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within transmission of nerve impulse IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in PML body ISO
Inferred from Sequence Orthology
more info
 
located_in PML body ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in actin filament IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with adherens junction IDA
Inferred from Direct Assay
more info
PubMed 
located_in axon IDA
Inferred from Direct Assay
more info
PubMed 
located_in axon ISO
Inferred from Sequence Orthology
more info
 
located_in axon hillock IDA
Inferred from Direct Assay
more info
PubMed 
located_in axon initial segment IDA
Inferred from Direct Assay
more info
PubMed 
located_in axon initial segment ISO
Inferred from Sequence Orthology
more info
 
located_in cell body fiber IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cell junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in cell projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in cortical actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in intercalated disc IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane ISO
Inferred from Sequence Orthology
more info
 
located_in neuronal cell body IDA
Inferred from Direct Assay
more info
PubMed 
located_in node of Ranvier IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in node of Ranvier IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in node of Ranvier ISO
Inferred from Sequence Orthology
more info
 
located_in nuclear matrix ISO
Inferred from Sequence Orthology
more info
 
located_in nuclear matrix ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in paranode region of axon IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
part_of spectrin ISO
Inferred from Sequence Orthology
more info
 
part_of spectrin ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 

General protein information

Preferred Names
spectrin beta chain, non-erythrocytic 4
Names
beta-spectrin 4
lumbosacral neuroaxonal dystrophy
neuroaxonal dystrophy
quivering
spectrin beta 4

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_001199234.1NP_001186163.1  spectrin beta chain, non-erythrocytic 4 isoform sigma6

    See identical proteins and their annotated locations for NP_001186163.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (sigma6a) has a shorter and distinct 5' terminus which results in the use of an in-frame downstream translation initiation signal, compared to sigma1. Compared to isoform sigma1, it encodes an isoform (sigma6) that lacks multiple calponin-homology domains and spectrin repeats at the N-terminus. Variants sigma6a-c encode the same protein.
    Source sequence(s)
    AC157561
    Consensus CDS
    CCDS57530.1
    UniProtKB/TrEMBL
    E9PZC2
    Related
    ENSMUSP00000104001.2, ENSMUST00000108364.8
    Conserved Domains (4) summary
    cd00176
    Location:192403
    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:10981202
    PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
    pfam00169
    Location:10961198
    PH; PH domain
    pfam00435
    Location:510609
    Spectrin; Spectrin repeat
  2. NM_001199235.1NP_001186164.1  spectrin beta chain, non-erythrocytic 4 isoform sigma6

    See identical proteins and their annotated locations for NP_001186164.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (sigma6b) has a shorter and distinct 5' terminus which results in the use of an in-frame downstream translation initiation signal, compared to sigma1. Compared to isoform sigma1, it encodes an isoform (sigma6) that lacks multiple calponin-homology domains and spectrin repeats at the N-terminus. Variants sigma6a-c encode the same protein.
    Source sequence(s)
    AC157561
    Consensus CDS
    CCDS57530.1
    UniProtKB/TrEMBL
    E9PZC2
    Related
    ENSMUSP00000103999.2, ENSMUST00000108362.8
    Conserved Domains (4) summary
    cd00176
    Location:192403
    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:10981202
    PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
    pfam00169
    Location:10961198
    PH; PH domain
    pfam00435
    Location:510609
    Spectrin; Spectrin repeat
  3. NM_001199236.1NP_001186165.1  spectrin beta chain, non-erythrocytic 4 isoform sigma6

    See identical proteins and their annotated locations for NP_001186165.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (sigma6c) has a shorter and distinct 5' terminus which results in the use of an in-frame downstream translation initiation signal, compared to sigma1. Compared to isoform sigma1, it encodes an isoform (sigma6) that lacks multiple calponin-homology domains and spectrin repeats at the N-terminus. Variants sigma6a-c encode the same protein.
    Source sequence(s)
    AC157561
    Consensus CDS
    CCDS57530.1
    UniProtKB/TrEMBL
    E9PZC2
    Related
    ENSMUSP00000104000.2, ENSMUST00000108363.8
    Conserved Domains (4) summary
    cd00176
    Location:192403
    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:10981202
    PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
    pfam00169
    Location:10961198
    PH; PH domain
    pfam00435
    Location:510609
    Spectrin; Spectrin repeat
  4. NM_032610.2NP_115999.2  spectrin beta chain, non-erythrocytic 4 isoform sigma1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (sigma1) represents the longest transcript and encodes the longer isoform (sigma1).
    Source sequence(s)
    AB055618, AC157561, AK147558
    Consensus CDS
    CCDS21019.1
    UniProtKB/TrEMBL
    E9PX29, Q8VIE5
    Related
    ENSMUSP00000011895.8, ENSMUST00000011895.14
    Conserved Domains (6) summary
    smart00150
    Location:10871191
    SPEC; Spectrin repeats
    cd00014
    Location:182285
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:15121723
    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:24182522
    PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
    pfam00169
    Location:24162518
    PH; PH domain
    pfam00435
    Location:18301929
    Spectrin; Spectrin repeat

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    27055808..27147128 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006540437.3XP_006540500.1  spectrin beta chain, non-erythrocytic 4 isoform X1

    Related
    ENSMUSP00000132807.2, ENSMUST00000172269.2
    Conserved Domains (5) summary
    smart00150
    Location:11061210
    SPEC; Spectrin repeats
    COG5069
    Location:75423
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00176
    Location:15311742
    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:24372541
    PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
    pfam00435
    Location:18491948
    Spectrin; Spectrin repeat