Tbio TMEM43 Transmembrane protein 43

Protein Summary

Description

May have an important role in maintaining nuclear envelope structure by organizing protein complexes at the inner nuclear membrane. Required for retaining emerin at the inner nuclear membrane (By similarity). 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]

Uniprot Accession IDs

• Q9BTV4
• Q7L4N5
• Q8NC30
• Q96A63
• Q96F19
• Q96JX0
• Q9H076

Gene Name

• TMEM43

Ensembl ID

• ENST00000306077
• ENSP00000303992
• ENSG00000170876

Symbol

• LUMA
• ARVC5
• ARVD5
• EDMD7

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
disease perturbation	0.99
transcription factor binding site profile	0.89
histone modification site profile	0.82
transcription factor perturbation	0.74
kinase perturbation	0.71

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 45.12   (req: < 5)

Gene RIFs: 25   (req: <= 3)

Antibodies: 115   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 45.12   (req: >= 5)

Gene RIFs: 25   (req: > 3)

Antibodies: 115   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 2

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0