Tmem43 transmembrane protein 43 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tmem43provided by MGI
Official Full Name: transmembrane protein 43provided by MGI
Primary source: MGI:MGI:1921372
See related: Ensembl:ENSMUSG00000030095 AllianceGenome:MGI:1921372
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: LUMA; 1200015A22Rik
Summary: Enables identical protein binding activity. Acts upstream of or within nuclear membrane organization. Located in endoplasmic reticulum lumen and nuclear inner membrane. Is expressed in several structures, including aorta; cartilage; future spinal cord; genitourinary system; and oral epithelium. Human ortholog(s) of this gene implicated in arrhythmogenic right ventricular cardiomyopathy; arrhythmogenic right ventricular dysplasia 5; autosomal dominant Emery-Dreifuss muscular dystrophy 7; and autosomal dominant auditory neuropathy 3. Orthologous to human TMEM43 (transmembrane protein 43). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in subcutaneous fat pad adult (RPKM 68.5), mammary gland adult (RPKM 49.0) and 26 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 D1; 6 40.54 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (91450689..91465445)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (91473707..91488463)

Chromosome 6 - NC_000072.7 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?

Reduced expression of transmembrane protein 43 during cardiac hypertrophy leads to worsening heart failure in mice.
Title: Reduced expression of transmembrane protein 43 during cardiac hypertrophy leads to worsening heart failure in mice.
The TMEM43 S358L mutation affects cardiac, small intestine, and metabolic homeostasis in a knock-in mouse model.
Title: The TMEM43 S358L mutation affects cardiac, small intestine, and metabolic homeostasis in a knock-in mouse model.
TMEM43 Protects against Sepsis-Induced Cardiac Injury via Inhibiting Ferroptosis in Mice.
Title: TMEM43 Protects against Sepsis-Induced Cardiac Injury via Inhibiting Ferroptosis in Mice.
Haploinsufficiency of Tmem43 in cardiac myocytes activates the DNA damage response pathway leading to a late-onset senescence-associated pro-fibrotic cardiomyopathy.
Title: Haploinsufficiency of Tmem43 in cardiac myocytes activates the DNA damage response pathway leading to a late-onset senescence-associated pro-fibrotic cardiomyopathy.
The authors show that TMEM43-S358L mutation up-regulates NF-kappaB (nuclear factor kappaappa B)-TGFbeta (transforming growth factor beta 1) signal cascade during arrhythmogenic right ventricular dysplasia cardiac fibrosis in mice.
Title: TMEM43-S358L mutation enhances NF-κB-TGFβ signal cascade in arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Luma is dispensable for murine cardiac development and function, and that the Luma S358L mutation alone may not cause cardiomyopathy in mice.
Title: Luma is not essential for murine cardiac development and function.

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Variation

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Alleles

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

Endonuclease-mediated (6) 1 citation
Gene trapped (1)
Targeted (3) 1 citation

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 identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in lipid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in nuclear membrane organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within nuclear membrane organization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within nuclear membrane organization	ISO Inferred from Sequence Orthology more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum lumen	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
is_active_in nuclear inner membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: transmembrane protein 43

NP_083042.1

EC 2.7.1.21

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.