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

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: human all
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Genomic context

Location:: 7 A3; 7 15.88 cM

Exon count:: 39

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	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_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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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?

Beta IV spectrin inhibits the metastatic growth of melanoma by suppressing VEGFR2-driven tumor angiogenesis.
Title: Beta IV spectrin inhibits the metastatic growth of melanoma by suppressing VEGFR2-driven tumor angiogenesis.
Endothelial tip/stalk cell selection requires BMP9-induced betaIV-spectrin expression during sprouting angiogenesis.
Title: Endothelial tip/stalk cell selection requires BMP9-induced β(IV)-spectrin expression during sprouting angiogenesis.
Loss of beta4-spectrin impairs Nav channel clustering at the heminode and temporal fidelity of presynaptic spikes in developing auditory brain.
Title: Loss of β4-spectrin impairs Na(v) channel clustering at the heminode and temporal fidelity of presynaptic spikes in developing auditory brain.
Ca(2+)/calmodulin kinase II-dependent regulation of betaIV-spectrin modulates cardiac fibroblast gene expression, proliferation, and contractility.
Title: Ca(2+)/calmodulin kinase II-dependent regulation of β(IV)-spectrin modulates cardiac fibroblast gene expression, proliferation, and contractility.
beta spectrin-dependent and domain specific mechanisms for Na(+) channel clustering.
Title: β spectrin-dependent and domain specific mechanisms for Na(+) channel clustering.
betaIV-Spectrin/STAT3 complex regulates fibroblast phenotype, fibrosis, and cardiac function.
Title: βIV-Spectrin/STAT3 complex regulates fibroblast phenotype, fibrosis, and cardiac function.
betaIV-Spectrin regulates STAT3 targeting to tune cardiac response to pressure overload.
Title: βIV-Spectrin regulates STAT3 targeting to tune cardiac response to pressure overload.
Study tracked the post-weaning development of a motor phenotype that arose in mice after random insertion of a transgene into the genome. The transgene was later found to have disrupted the beta-IV spectrin gene, which was confirmed by reduced expression of betaIV spectrin protein in brain homogenates. The motor phenotype was recessive, occurring in 20% of L25+/-xL25+/- progeny.
Title: Postnatal Development of Spasticity Following Transgene Insertion in the Mouse βIV Spectrin Gene (SPTBN4).
bi-allelic pathogenic SPTBN4 variants (three homozygous and two compound heterozygous) that cause a severe neurological syndrome that includes congenital hypotonia, intellectual disability, and motor axonal and auditory neuropathy, are reported.
Title: βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy.
In embryonic mouse axons neither beta4-spectrin nor Neurofascin control the distal-to-proximal restriction of AnkG.
Title: In vivo assembly of the axon initial segment in motor neurons.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Variation

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Alleles

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

Spontaneous (9) 1 citation
Gene trapped (1) 1 citation
Targeted (3) 1 citation
Chemically induced (ENU) (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G67801 (e-PCR)
- UniSTS:225577

Spnb4 (e-PCR), detects polymorphism
- UniSTS:498516

MARC_14429-14430:1010078261:1 (e-PCR)
- UniSTS:267666

RH118306 (e-PCR)
- UniSTS:160951

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
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
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
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 neuromuscular junction development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuromuscular process	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
acts_upstream_of_or_within protein localization to plasma membrane	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 protein-containing complex assembly	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
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 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
is_active_in juxtaparanode region of axon	IMP Inferred from Mutant Phenotype 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
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

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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)

NM_001199234.1 → NP_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, Q8VBX2

Related

ENSMUSP00000104001.2, ENSMUST00000108364.8

Conserved Domains (4) summary

cd00176
Location:192 → 403

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:1098 → 1202

PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain

pfam00169
Location:1096 → 1198

PH; PH domain

pfam00435
Location:510 → 609

Spectrin; Spectrin repeat
NM_001199235.1 → NP_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, Q8VBX2

Related

ENSMUSP00000103999.2, ENSMUST00000108362.8

Conserved Domains (4) summary

cd00176
Location:192 → 403

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:1098 → 1202

PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain

pfam00169
Location:1096 → 1198

PH; PH domain

pfam00435
Location:510 → 609

Spectrin; Spectrin repeat
NM_001199236.1 → NP_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, Q8VBX2

Related

ENSMUSP00000104000.2, ENSMUST00000108363.8

Conserved Domains (4) summary

cd00176
Location:192 → 403

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:1098 → 1202

PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain

pfam00169
Location:1096 → 1198

PH; PH domain

pfam00435
Location:510 → 609

Spectrin; Spectrin repeat
NM_032610.2 → NP_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:1087 → 1191

SPEC; Spectrin repeats

cd00014
Location:182 → 285

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:1512 → 1723

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:2418 → 2522

PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain

pfam00169
Location:2416 → 2518

PH; PH domain

pfam00435
Location:1830 → 1929

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

NC_000073.7 Reference GRCm39 C57BL/6J

Range

27055808..27147128 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

Q8VIE5

Conserved Domains (5) summary

smart00150
Location:1106 → 1210

SPEC; Spectrin repeats

COG5069
Location:75 → 423

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

cd00176
Location:1531 → 1742

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:2437 → 2541

PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain

pfam00435
Location:1849 → 1948

Spectrin; Spectrin repeat