Expression of TMEM43 in cancer - Summary

CANCER ATLAS

Gene description

Transmembrane protein 43

Protein class

Disease related genes, Predicted membrane proteins

Protein evidence

Evidence at protein level

Colorectal cancer

Breast cancer

Prostate cancer

Lung cancer

Liver cancer

STAINING SUMMARY

HPA019198

GENE INFORMATION
Gene name	TMEM43 (HGNC Symbol)
Synonyms	ARVD5, DKFZp586G1919, LUMA, MGC3222
Description	Transmembrane protein 43 (HGNC Symbol)
Entrez gene 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]
Chromosome	3
Cytoband	p25.1
Chromosome location (bp)	14124940 - 14143679
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000170876 (version 83.38)
Entrez gene	79188
UniProt	Q9BTV4 (UniProt - Evidence at protein level)
neXtProt	NX_Q9BTV4
Antibodypedia	TMEM43 antibodies

PROTEIN BROWSER

TMEM43-001

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
TMEM43-001 ENSP00000303992 ENST00000306077	Q9BTV4 [Direct mapping] Transmembrane protein 43 A0A024R2F9 [Target identity:100%; Query identity:100%] Transmembrane protein 43, isoform CRA_a Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 4TM proteins predicted by MDM Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005637 [nuclear inner membrane] GO:0005639 [integral component of nuclear inner membrane] GO:0005788 [endoplasmic reticulum lumen] GO:0005794 [Golgi apparatus] GO:0043621 [protein self-association] GO:0071763 [nuclear membrane organization] Show all	400 aa 44.9 kDa	No	4