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TMEM43 transmembrane protein 43 [ Homo sapiens (human) ]

Gene ID: 79188, updated on 18-May-2023

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; AllianceGenome:HGNC:28472
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; AUNA3; EDMD7; EDMD7; AUNA2
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
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Genomic context

See TMEM43 in Genome Data Viewer
Location:
3p25.1
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (14125052..14143680)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (14126997..14145625)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (14166552..14185180)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 4 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:14163053-14163787 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:14163788-14164523 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:14165995-14166729 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:14166730-14167464 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:14185247-14185934 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:14190053-14190737 Neighboring gene XPC complex subunit, DNA damage recognition and repair factor

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What'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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC3222, DKFZp586G1919

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein self-association IEA
Inferred from Electronic Annotation
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
PubMed 
involved_in nuclear membrane organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within nuclear membrane organization IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 
located_in endoplasmic reticulum lumen IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in nuclear envelope IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nuclear inner membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
transmembrane protein 43
NP_001394203.1
NP_001394204.1
NP_001394205.1
NP_001394206.1
NP_001394207.1
NP_001394208.1
NP_001394209.1
NP_077310.1

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.

Genomic

  1. NG_008975.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001407274.1NP_001394203.1  transmembrane protein 43 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC090004
  2. NM_001407275.1NP_001394204.1  transmembrane protein 43 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC090004
  3. NM_001407276.1NP_001394205.1  transmembrane protein 43 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC090004
  4. NM_001407277.1NP_001394206.1  transmembrane protein 43 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC090004
  5. NM_001407278.1NP_001394207.1  transmembrane protein 43 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC090004
  6. NM_001407279.1NP_001394208.1  transmembrane protein 43 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC090004
  7. NM_001407280.1NP_001394209.1  transmembrane protein 43 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC090004
  8. NM_024334.3NP_077310.1  transmembrane protein 43 isoform 1

    See identical proteins and their annotated locations for NP_077310.1

    Status: REVIEWED

    Source sequence(s)
    AY358625, BC003125
    Consensus CDS
    CCDS2618.1
    UniProtKB/Swiss-Prot
    Q9BTV4, Q9H076
    UniProtKB/TrEMBL
    A0A024R2F9, A0A0S2Z5Q4
    Related
    ENSP00000303992.5, ENST00000306077.5
    Conserved Domains (1) summary
    pfam07787
    Location:122373
    TMEM43; Transmembrane protein 43

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    14125052..14143680
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    14126997..14145625
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)