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TPM2 (tropomyosin 2)

Identity

Alias (NCBI)AMCD1
DA1
DA2B
DA2B4
HEL-S-273
NEM4
TMSB
HGNC (Hugo) TPM2
HGNC Alias symbDA1
NEM4
HGNC Alias namenemaline myopathy type 4
HGNC Previous nameAMCD1
HGNC Previous namearthrogryposis multiplex congenital, distal, type 1
 tropomyosin 2 (beta)
LocusID (NCBI) 7169
Atlas_Id 50293
Location 9p13.3  [Link to chromosome band 9p13]
Location_base_pair Starts at 35681993 and ends at 35690056 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)
EIF4G1 (3q27.1) / TPM2 (9p13.3)LOC441242 () / TPM2 (9p13.3)MYBPC1 (12q23.2) / TPM2 (9p13.3)
PDIA6 (2p25.1) / TPM2 (9p13.3)TPM1 (15q22.2) / TPM2 (9p13.3)TPM2 (9p13.3) / CIT (12q24.23)
TPM2 (9p13.3) / ECHDC2 (1p32.3)TPM2 (9p13.3) / FAH (15q25.1)TPM2 (9p13.3) / MUC2 (11p15.5)
TPM2 (9p13.3) / MYBPC1 (12q23.2)TPM2 (9p13.3) / MYH9 (22q12.3)TPM2 (9p13.3) / TPM2 (9p13.3)
TPM2 (9p13.3) / TPM3 (1q21.3)

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)TPM2   12011
LRG (Locus Reference Genomic)LRG_680
Cards
Entrez_Gene (NCBI)TPM2    tropomyosin 2
AliasesAMCD1; DA1; DA2B; DA2B4; 
HEL-S-273; NEM4; TMSB
GeneCards (Weizmann)TPM2
Ensembl hg19 (Hinxton)ENSG00000198467 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198467 [Gene_View]  ENSG00000198467 [Sequence]  chr9:35681993-35690056 [Contig_View]  TPM2 [Vega]
ICGC DataPortalENSG00000198467
TCGA cBioPortalTPM2
AceView (NCBI)TPM2
Genatlas (Paris)TPM2
SOURCE (Princeton)TPM2
Genetics Home Reference (NIH)TPM2
Genomic and cartography
GoldenPath hg38 (UCSC)TPM2  -     chr9:35681993-35690056 -  9p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TPM2  -     9p13.3   [Description]    (hg19-Feb_2009)
GoldenPathTPM2 - 9p13.3 [CytoView hg19]  TPM2 - 9p13.3 [CytoView hg38]
ImmunoBaseENSG00000198467
Genome Data Viewer NCBITPM2 [Mapview hg19]  
OMIM108120   190990   255310   609285   
Gene and transcription
Genbank (Entrez)AA394062 AI360640 AI660199 AJ572605 AK130045
RefSeq transcript (Entrez)NM_001145822 NM_001301226 NM_001301227 NM_003289 NM_213674
Consensus coding sequences : CCDS (NCBI)TPM2
Gene ExpressionTPM2 [ NCBI-GEO ]   TPM2 [ EBI - ARRAY_EXPRESS ]   TPM2 [ SEEK ]   TPM2 [ MEM ]
Gene Expression Viewer (FireBrowse)TPM2 [ Firebrowse - Broad ]
GenevisibleExpression of TPM2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7169
GTEX Portal (Tissue expression)TPM2
Human Protein AtlasENSG00000198467-TPM2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP07951   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP07951  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP07951
PhosPhoSitePlusP07951
Domaine pattern : Prosite (Expaxy)TROPOMYOSIN (PS00326)   
Domains : Interpro (EBI)Tropomyosin   
Domain families : Pfam (Sanger)Tropomyosin (PF00261)   
Domain families : Pfam (NCBI)pfam00261   
Conserved Domain (NCBI)TPM2
SuperfamilyP07951
AlphaFold pdb e-kbP07951   
Human Protein Atlas [tissue]ENSG00000198467-TPM2 [tissue]
HPRD11768
Protein Interaction databases
DIP (DOE-UCLA)P07951
IntAct (EBI)P07951
BioGRIDTPM2
STRING (EMBL)TPM2
ZODIACTPM2
Ontologies - Pathways
QuickGOP07951
Ontology : AmiGOactin binding  cytosol  muscle thin filament tropomyosin  actin filament  muscle contraction  muscle contraction  actin filament organization  structural constituent of muscle  actin cytoskeleton  muscle filament sliding  identical protein binding  protein homodimerization activity  regulation of ATPase activity  protein heterodimerization activity  actin filament binding  actin filament binding  
Ontology : EGO-EBIactin binding  cytosol  muscle thin filament tropomyosin  actin filament  muscle contraction  muscle contraction  actin filament organization  structural constituent of muscle  actin cytoskeleton  muscle filament sliding  identical protein binding  protein homodimerization activity  regulation of ATPase activity  protein heterodimerization activity  actin filament binding  actin filament binding  
Pathways : KEGGCardiac muscle contraction    Adrenergic signaling in cardiomyocytes    Hypertrophic cardiomyopathy (HCM)    Dilated cardiomyopathy   
NDEx NetworkTPM2
Atlas of Cancer Signalling NetworkTPM2
Wikipedia pathwaysTPM2
Orthology - Evolution
OrthoDB7169
GeneTree (enSembl)ENSG00000198467
Phylogenetic Trees/Animal Genes : TreeFamTPM2
Homologs : HomoloGeneTPM2
Homology/Alignments : Family Browser (UCSC)TPM2
Gene fusions - Rearrangements
Fusion : MitelmanPDIA6/TPM2 [2p25.1/9p13.3]  
Fusion : QuiverTPM2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTPM2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TPM2
dbVarTPM2
ClinVarTPM2
MonarchTPM2
1000_GenomesTPM2 
Exome Variant ServerTPM2
GNOMAD BrowserENSG00000198467
Varsome BrowserTPM2
ACMGTPM2 variants
VarityP07951
Genomic Variants (DGV)TPM2 [DGVbeta]
DECIPHERTPM2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTPM2 
Mutations
ICGC Data PortalTPM2 
TCGA Data PortalTPM2 
Broad Tumor PortalTPM2
OASIS PortalTPM2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTPM2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTPM2
Mutations and Diseases : HGMDTPM2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTPM2
DgiDB (Drug Gene Interaction Database)TPM2
DoCM (Curated mutations)TPM2
CIViC (Clinical Interpretations of Variants in Cancer)TPM2
Cancer3DTPM2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM108120    190990    255310    609285   
Orphanet17908    17909    421    422    493    17949   
DisGeNETTPM2
MedgenTPM2
Genetic Testing Registry TPM2
NextProtP07951 [Medical]
GENETestsTPM2
Target ValidationTPM2
Huge Navigator TPM2 [HugePedia]
ClinGenTPM2
Clinical trials, drugs, therapy
MyCancerGenomeTPM2
Protein Interactions : CTDTPM2
Pharm GKB GenePA36691
PharosP07951
Clinical trialTPM2
Miscellaneous
canSAR (ICR)TPM2
HarmonizomeTPM2
DataMed IndexTPM2
Probes
Litterature
PubMed118 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTPM2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:36:01 CEST 2021

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