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TMEM43 (transmembrane protein 43)

Identity

Alias (NCBI)ARVC5
ARVD5
EDMD7
LUMA
HGNC (Hugo) TMEM43
HGNC Alias symbMGC3222
DKFZp586G1919
LUMA
HGNC Previous nameARVD5
HGNC Previous namearrhythmogenic right ventricular dysplasia 5
LocusID (NCBI) 79188
Atlas_Id 57060
Location 3p25.1  [Link to chromosome band 3p25]
Location_base_pair Starts at 14125052 and ends at 14143680 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)TMEM43   28472
LRG (Locus Reference Genomic)LRG_435
Cards
Entrez_Gene (NCBI)TMEM43    transmembrane protein 43
AliasesARVC5; ARVD5; EDMD7; LUMA
GeneCards (Weizmann)TMEM43
Ensembl hg19 (Hinxton)ENSG00000170876 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000170876 [Gene_View]  ENSG00000170876 [Sequence]  chr3:14125052-14143680 [Contig_View]  TMEM43 [Vega]
ICGC DataPortalENSG00000170876
TCGA cBioPortalTMEM43
AceView (NCBI)TMEM43
Genatlas (Paris)TMEM43
SOURCE (Princeton)TMEM43
Genetics Home Reference (NIH)TMEM43
Genomic and cartography
GoldenPath hg38 (UCSC)TMEM43  -     chr3:14125052-14143680 +  3p25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMEM43  -     3p25.1   [Description]    (hg19-Feb_2009)
GoldenPathTMEM43 - 3p25.1 [CytoView hg19]  TMEM43 - 3p25.1 [CytoView hg38]
ImmunoBaseENSG00000170876
Genome Data Viewer NCBITMEM43 [Mapview hg19]  
OMIM604400   612048   614302   
Gene and transcription
Genbank (Entrez)AF086408 AK026869 AK027466 AK027757 AK027827
RefSeq transcript (Entrez)NM_024334
Consensus coding sequences : CCDS (NCBI)TMEM43
Gene ExpressionTMEM43 [ NCBI-GEO ]   TMEM43 [ EBI - ARRAY_EXPRESS ]   TMEM43 [ SEEK ]   TMEM43 [ MEM ]
Gene Expression Viewer (FireBrowse)TMEM43 [ Firebrowse - Broad ]
GenevisibleExpression of TMEM43 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79188
GTEX Portal (Tissue expression)TMEM43
Human Protein AtlasENSG00000170876-TMEM43 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BTV4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BTV4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BTV4
PhosPhoSitePlusQ9BTV4
Domains : Interpro (EBI)TMEM43_fam   
Domain families : Pfam (Sanger)TMEM43 (PF07787)   
Domain families : Pfam (NCBI)pfam07787   
Conserved Domain (NCBI)TMEM43
SuperfamilyQ9BTV4
AlphaFold pdb e-kbQ9BTV4   
Human Protein Atlas [tissue]ENSG00000170876-TMEM43 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q9BTV4
IntAct (EBI)Q9BTV4
BioGRIDTMEM43
STRING (EMBL)TMEM43
ZODIACTMEM43
Ontologies - Pathways
QuickGOQ9BTV4
Ontology : AmiGOprotein binding  integral component of nuclear inner membrane  endoplasmic reticulum lumen  Golgi apparatus  identical protein binding  protein self-association  nuclear membrane organization  nuclear membrane organization  
Ontology : EGO-EBIprotein binding  integral component of nuclear inner membrane  endoplasmic reticulum lumen  Golgi apparatus  identical protein binding  protein self-association  nuclear membrane organization  nuclear membrane organization  
NDEx NetworkTMEM43
Atlas of Cancer Signalling NetworkTMEM43
Wikipedia pathwaysTMEM43
Orthology - Evolution
OrthoDB79188
GeneTree (enSembl)ENSG00000170876
Phylogenetic Trees/Animal Genes : TreeFamTMEM43
Homologs : HomoloGeneTMEM43
Homology/Alignments : Family Browser (UCSC)TMEM43
Gene fusions - Rearrangements
Fusion : QuiverTMEM43
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMEM43 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMEM43
dbVarTMEM43
ClinVarTMEM43
MonarchTMEM43
1000_GenomesTMEM43 
Exome Variant ServerTMEM43
GNOMAD BrowserENSG00000170876
Varsome BrowserTMEM43
ACMGTMEM43 variants
VarityQ9BTV4
Genomic Variants (DGV)TMEM43 [DGVbeta]
DECIPHERTMEM43 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTMEM43 
Mutations
ICGC Data PortalTMEM43 
TCGA Data PortalTMEM43 
Broad Tumor PortalTMEM43
OASIS PortalTMEM43 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMEM43  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTMEM43
Mutations and Diseases : HGMDTMEM43
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTMEM43
DgiDB (Drug Gene Interaction Database)TMEM43
DoCM (Curated mutations)TMEM43
CIViC (Clinical Interpretations of Variants in Cancer)TMEM43
Cancer3DTMEM43
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604400    612048    614302   
Orphanet
DisGeNETTMEM43
MedgenTMEM43
Genetic Testing Registry TMEM43
NextProtQ9BTV4 [Medical]
GENETestsTMEM43
Target ValidationTMEM43
Huge Navigator TMEM43 [HugePedia]
ClinGenTMEM43
Clinical trials, drugs, therapy
MyCancerGenomeTMEM43
Protein Interactions : CTDTMEM43
Pharm GKB GenePA134871907
PharosQ9BTV4
Clinical trialTMEM43
Miscellaneous
canSAR (ICR)TMEM43
HarmonizomeTMEM43
DataMed IndexTMEM43
Probes
Litterature
PubMed80 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTMEM43
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:35:32 CEST 2021

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