Tpm4 tropomyosin 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tpm4provided by MGI
Official Full Name: tropomyosin 4provided by MGI
Primary source: MGI:MGI:2449202
See related: Ensembl:ENSMUSG00000031799 AllianceGenome:MGI:2449202
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: Tpm4.2; Tpm4.2cy; 2610528G24Rik
Summary: Enables actin filament binding activity. Involved in platelet formation. Located in cortical cytoskeleton and podosome. Human ortholog(s) of this gene implicated in blood platelet disease. Orthologous to human TPM4 (tropomyosin 4). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in placenta adult (RPKM 203.2), CNS E11.5 (RPKM 138.7) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 B3.3; 8 34.81 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (72889132..72906986)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (72135288..72153142)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data 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?

findings demonstrate a nonredundant role for TPM4 in platelet biogenesis in humans and mice and reveal that truncating variants in TPM4 cause a previously undescribed dominant Mendelian platelet disorder.
Title: Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia.
These results indicate that Tm-4 plays a role in regulating adhesion structures of osteoclasts, most likely by stabilizing the actin microfilaments present in podosomes and the sealing zone.
Title: Tropomyosin 4 regulates adhesion structures and resorptive capacity in osteoclasts.
Tropomyosin 4 defines longitudinal filaments in mouse models of muscular dystrophy and nemaline myopathy.
Title: Tropomyosin 4 defines novel filaments in skeletal muscle associated with muscle remodelling/regeneration in normal and diseased muscle.
Tm-4 is specifically enriched within and around osteoclast attachment structures, the sealing zone and podosomes.
Title: Tropomyosin isoforms localize to distinct microfilament populations in osteoclasts.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	IDA Inferred from Direct Assay more info	PubMed
enables actin filament binding	ISO Inferred from Sequence Orthology more info
enables actin filament binding	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein heterodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein heterodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in platelet formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in platelet formation	ISO Inferred from Sequence Orthology more info
involved_in platelet formation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in actin cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in actin cytoskeleton	ISS Inferred from Sequence or Structural Similarity more info
is_active_in actin filament	IBA Inferred from Biological aspect of Ancestor more info
located_in cortical cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in podosome	IDA Inferred from Direct Assay more info	PubMed
located_in stress fiber	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: tropomyosin alpha-4 chain

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.