TMEM43 transmembrane protein 43 [Homo sapiens] - Gene

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Summary

Official Symbol: TMEM43provided by HGNC
Official Full Name: transmembrane protein 43provided by HGNC
Primary source: HGNC:28472
Locus tag: UNQ2564/PRO6244
See related: Ensembl:ENSG00000170876; HPRD:15541; MIM:612048; Vega:OTTHUMG00000129802
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LUMA; ARVC5; ARVD5; MGC3222; DKFZp586G1919
Summary: This gene belongs to the TMEM43 family. Defects in this gene are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5), also known as arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic right ventricular dysplasia is an inherited disorder, often involving both ventricles, and is characterized by ventricular tachycardia, heart failure, sudden cardiac death, and fibrofatty replacement of cardiomyocytes. This gene contains a response element for PPAR gamma (an adipogenic transcription factor), which may explain the fibrofatty replacement of the myocardium, a characteristic pathological finding in ARVC. [provided by RefSeq, Oct 2008]

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Genomic context

Location :: 3p25.1

Sequence :: Chromosome: 3; NC_000003.11 (14166440..14185180)

See TMEM43 in Epigenomics, MapViewer

Chromosome 3 - NC_000003.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

The TMEM43 gene underlies a distinctive form of arrhythmogenic right ventricular cardiomyopathy (ARVC) which may share a final common pathway with desmosome-associated ARVC.
Title: Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy.
The results of study suggested that mutant LUMAs may be associated with EDMD-related myopathy.
Title: TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Studies indicate that in 2007, the Newfoundland local research team discovered the causative mutation in a novel gene TMEM43 within the disease-associated founder haplotype.
Title: Translation of research discoveries to clinical care in arrhythmogenic right ventricular cardiomyopathy in Newfoundland and Labrador: lessons for health policy in genetic disease.
Observational study of genetic testing. (HuGE Navigator)
Title: Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
LUMA (TMEM43) is a highly conserved protein located to inner nuclear membrane (INM) and interacting with A- and B-type lamins. It is particularly important for anchoring of emerin at the INM and may thus contribute to the pathogenesis of laminopathies.
Title: LUMA interacts with emerin and influences its distribution at the inner nuclear membrane.
In families with arrhythmogenic right ventricular cardiomyopathy, there was found a missense mutation in a highly conserved transmembrane domain of TMEM43 and was predicted to be deleterious.
Title: Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.
Observational study of gene-disease association. (HuGE Navigator)
Title: Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.

Submit: New GeneRIF Correction

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Arrhythmogenic right ventricular dysplasia 5

MIM: 604400

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Products	Interactant	Other Gene	Source	Pubs	Description
Transmembrane protein 43	P37268	FDFT1	HPRD	PubMed
BioGRID:122601	BioGRID:108516	FDFT1	BioGRID	PubMed	Two-hybrid
BioGRID:122601	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:122601	BioGRID:1678002	UL27	BioGRID	PubMed	Affinity Capture-MS

Component	Evidence Code	Pubs
Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
integral to membrane	IEA Inferred from Electronic Annotation more info
membrane	IEA Inferred from Electronic Annotation more info
nuclear inner membrane	IEA Inferred from Electronic Annotation more info
nucleus	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: transmembrane protein 43

Names: transmembrane protein 43

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NCBI Reference Sequences (RefSeq)

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.

Genomic

NG_008975.1 RefSeqGene

Range

5001..23741

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_024334.2 → NP_077310.1 transmembrane protein 43

Status: REVIEWED

Source sequence(s)

AY358625, BC003125, DA259919

Consensus CDS

CCDS2618.1

UniProtKB/Swiss-Prot

Q9BTV4

Related

ENSP00000303992, OTTHUMP00000160233, ENST00000306077, OTTHUMT00000252030

Conserved Domains (1) summary

pfam07787
Location:121 – 373
Blast Score: 802

DUF1625; Protein of unknown function (DUF1625)

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000003.11 Reference GRCh37.p5 Primary Assembly

Range

14166440..14185180

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000135.1 Alternate HuRef

Range

14101416..14120156

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC090004.2 (1141..19775)	None
genomic	CH471055.1	EAW64184.1
		EAW64185.1
		EAW64186.1
		EAW64187.1
mRNA	AF086408.1	None
mRNA	AK027466.1	BAB55131.1
mRNA	AK027757.1	BAB55348.1
mRNA	AK027827.1	BAB55396.1
mRNA	AK027877.1	BAB55425.1
mRNA	AK074073.1	BAB84899.1
mRNA	AK075010.1	BAC11350.1
mRNA	AK225589.1	None
mRNA	AL136916.1	CAB66850.1
mRNA	AY358625.1	AAQ88988.1
mRNA	BC003125.1	AAH03125.1
mRNA	BC008054.2	AAH08054.2
mRNA	BC011719.2	AAH11719.1
mRNA	DA259919.1	None
other-genetic	AM393160.1	CAL38038.1