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TMEM43 (transmembrane protein 43)

Identity

Alias_namesARVD5
arrhythmogenic right ventricular dysplasia 5
Alias_symbol (synonym)MGC3222
DKFZp586G1919
LUMA
Other aliasARVC5
EDMD7
HGNC (Hugo) TMEM43
LocusID (NCBI) 79188
Atlas_Id 74945
Location 3p25.1  [Link to chromosome band 3p25]
Location_base_pair Starts at 14124940 and ends at 14143680 bp from pter ( according to hg38-Dec_2013)

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  79188  transmembrane protein 43
AliasesARVC5; ARVD5; EDMD7; LUMA
GeneCards (Weizmann)TMEM43
Ensembl hg19 (Hinxton)ENSG00000170876 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000170876 [Gene_View]  chr3:14124940-14143680 [Contig_View]  TMEM43 [Vega]
ICGC DataPortalENSG00000170876
TCGA cBioPortalTMEM43
AceView (NCBI)TMEM43
Genatlas (Paris)TMEM43
WikiGenes79188
SOURCE (Princeton)TMEM43
Genetics Home Reference (NIH)TMEM43
Genomic and cartography
GoldenPath hg38 (UCSC)TMEM43  -     chr3:14124940-14143680 +  3p25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMEM43  -     3p25.1   [Description]    (hg19-Feb_2009)
EnsemblTMEM43 - 3p25.1 [CytoView hg19]  TMEM43 - 3p25.1 [CytoView hg38]
Mapping of homologs : NCBITMEM43 [Mapview hg19]  TMEM43 [Mapview hg38]
OMIM604400   612048   614302   
Gene and transcription
Genbank (Entrez)AF086408 AK026869 AK027466 AK027757 AK027827
RefSeq transcript (Entrez)NM_024334
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TMEM43
Cluster EST : UnigeneHs.517817 [ NCBI ]
CGAP (NCI)Hs.517817
Alternative Splicing GalleryENSG00000170876
Gene ExpressionTMEM43 [ NCBI-GEO ]   TMEM43 [ EBI - ARRAY_EXPRESS ]   TMEM43 [ SEEK ]   TMEM43 [ MEM ]
Gene Expression Viewer (FireBrowse)TMEM43 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79188
GTEX Portal (Tissue expression)TMEM43
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
Splice isoforms : SwissVarQ9BTV4
PhosPhoSitePlusQ9BTV4
Domains : Interpro (EBI)TMEM43_fam   
Domain families : Pfam (Sanger)TMEM43 (PF07787)   
Domain families : Pfam (NCBI)pfam07787   
Conserved Domain (NCBI)TMEM43
DMDM Disease mutations79188
Blocks (Seattle)TMEM43
SuperfamilyQ9BTV4
Human Protein AtlasENSG00000170876
Peptide AtlasQ9BTV4
HPRD15541
IPIIPI00301280   IPI00926007   IPI00924981   
Protein Interaction databases
DIP (DOE-UCLA)Q9BTV4
IntAct (EBI)Q9BTV4
FunCoupENSG00000170876
BioGRIDTMEM43
STRING (EMBL)TMEM43
ZODIACTMEM43
Ontologies - Pathways
QuickGOQ9BTV4
Ontology : AmiGOprotein binding  integral component of nuclear inner membrane  endoplasmic reticulum lumen  Golgi apparatus  protein self-association  nuclear membrane organization  
Ontology : EGO-EBIprotein binding  integral component of nuclear inner membrane  endoplasmic reticulum lumen  Golgi apparatus  protein self-association  nuclear membrane organization  
NDEx NetworkTMEM43
Atlas of Cancer Signalling NetworkTMEM43
Wikipedia pathwaysTMEM43
Orthology - Evolution
OrthoDB79188
GeneTree (enSembl)ENSG00000170876
Phylogenetic Trees/Animal Genes : TreeFamTMEM43
HOVERGENQ9BTV4
HOGENOMQ9BTV4
Homologs : HomoloGeneTMEM43
Homology/Alignments : Family Browser (UCSC)TMEM43
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMEM43 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMEM43
dbVarTMEM43
ClinVarTMEM43
1000_GenomesTMEM43 
Exome Variant ServerTMEM43
ExAC (Exome Aggregation Consortium)TMEM43 (select the gene name)
Genetic variants : HAPMAP79188
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]  
Mutations and Diseases : HGMDTMEM43
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
LOVD (Leiden Open Variation Database)ARVD/C Genetic Variants Database
BioMutasearch TMEM43
DgiDB (Drug Gene Interaction Database)TMEM43
DoCM (Curated mutations)TMEM43 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TMEM43 (select a term)
intoGenTMEM43
Cancer3DTMEM43(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604400    612048    614302   
Orphanet20888    20887    20886    13870   
MedgenTMEM43
Genetic Testing Registry TMEM43
NextProtQ9BTV4 [Medical]
TSGene79188
GENETestsTMEM43
Target ValidationTMEM43
Huge Navigator TMEM43 [HugePedia]
snp3D : Map Gene to Disease79188
BioCentury BCIQTMEM43
ClinGenTMEM43
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79188
Chemical/Pharm GKB GenePA134871907
Clinical trialTMEM43
Miscellaneous
canSAR (ICR)TMEM43 (select the gene name)
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTMEM43
EVEXTMEM43
GoPubMedTMEM43
iHOPTMEM43
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:42:01 CEST 2017

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