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TMEM43 transmembrane protein 43 [ Homo sapiens (human) ]

Gene ID: 79188, updated on 5-Aug-2018

Summary

Official Symbol
TMEM43provided by HGNC
Official Full Name
transmembrane protein 43provided by HGNC
Primary source
HGNC:HGNC:28472
See related
Ensembl:ENSG00000170876 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; EDMD7
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]
Expression
Ubiquitous expression in skin (RPKM 47.7), ovary (RPKM 42.5) and 25 other tissues See more
Orthologs

Genomic context

See TMEM43 in Genome Data Viewer
Location:
3p25.1
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (14124940..14143680)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (14166440..14185180)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene vomeronasal 1 receptor 21 pseudogene Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 4 Neighboring gene uncharacterized LOC107986063 Neighboring gene XPC complex subunit, DNA damage recognition and repair factor Neighboring gene LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Professional guidelines

Description
Professional guideline
ACMG 2013

The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in TMEM43 that are pathogenic or expected to be pathogenic.

GuidelinePubMed

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2015-11-08)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2015-11-08)

ClinGen Genome Curation Page

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 is identified to have a physical interaction with transmembrane protein 43 (TMEM43) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC3222, DKFZp586G1919

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein self-association IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
nuclear membrane organization IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum lumen IEA
Inferred from Electronic Annotation
more info
 
integral component of nuclear inner membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
transmembrane protein 43
NP_077310.1
XP_016862665.1

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

  1. NG_008975.1 RefSeqGene

    Range
    5001..23741
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_435

mRNA and Protein(s)

  1. NM_024334.2NP_077310.1  transmembrane protein 43

    See identical proteins and their annotated locations for NP_077310.1

    Status: REVIEWED

    Source sequence(s)
    AY358625, BC003125, DA259919
    Consensus CDS
    CCDS2618.1
    UniProtKB/Swiss-Prot
    Q9BTV4
    UniProtKB/TrEMBL
    A0A024R2F9
    Related
    ENSP00000303992.4, OTTHUMP00000160233, ENST00000306077.4, OTTHUMT00000252030
    Conserved Domains (1) summary
    pfam07787
    Location:122373
    TMEM43; Transmembrane protein 43

RefSeqs of Annotated Genomes: Homo sapiens 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 GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    14124940..14143680
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007176.2XP_016862665.1  transmembrane protein 43 isoform X1

    Conserved Domains (1) summary
    pfam07787
    Location:87338
    DUF1625; Protein of unknown function (DUF1625)
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