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TNPO3 (transportin 3)

Identity

Alias_namesLGMD1F
limb girdle muscular dystrophy 1F (autosomal dominant)
Alias_symbol (synonym)TRN-SR
MTR10A
TRN-SR2
IPO12
Other aliasTRNSR
HGNC (Hugo) TNPO3
LocusID (NCBI) 23534
Atlas_Id 46863
Location 7q32.1  [Link to chromosome band 7q32]
Location_base_pair Starts at 128594234 and ends at 128695227 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
TNPO3 (7q32.1) / DYM (18q21.1)TNPO3 (7q32.1) / FN1 (2q35)TNPO3 (7q32.1) / RCAN1 (21q22.12)
TNPO3 (7q32.1) / TNPO3 (7q32.1)TNPO3 (7q32.1) / ZC3HAV1 (7q34)TNPO3 7q32.1 / DYM 18q21.1
TNPO3 7q32.1 / RCAN1 21q22.12

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)TNPO3   17103
Cards
Entrez_Gene (NCBI)TNPO3  23534  transportin 3
AliasesIPO12; LGMD1F; MTR10A; TRN-SR; 
TRN-SR2; TRNSR
GeneCards (Weizmann)TNPO3
Ensembl hg19 (Hinxton)ENSG00000064419 [Gene_View]  chr7:128594234-128695227 [Contig_View]  TNPO3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000064419 [Gene_View]  chr7:128594234-128695227 [Contig_View]  TNPO3 [Vega]
ICGC DataPortalENSG00000064419
TCGA cBioPortalTNPO3
AceView (NCBI)TNPO3
Genatlas (Paris)TNPO3
WikiGenes23534
SOURCE (Princeton)TNPO3
Genetics Home Reference (NIH)TNPO3
Genomic and cartography
GoldenPath hg19 (UCSC)TNPO3  -     chr7:128594234-128695227 -  7q32.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TNPO3  -     7q32.1   [Description]    (hg38-Dec_2013)
EnsemblTNPO3 - 7q32.1 [CytoView hg19]  TNPO3 - 7q32.1 [CytoView hg38]
Mapping of homologs : NCBITNPO3 [Mapview hg19]  TNPO3 [Mapview hg38]
OMIM610032   
Gene and transcription
Genbank (Entrez)AF145029 AJ133769 AK001263 AK022910 AK225999
RefSeq transcript (Entrez)NM_001191028 NM_012470
RefSeq genomic (Entrez)NC_000007 NC_018918 NG_023428 NT_007933 NW_004929332
Consensus coding sequences : CCDS (NCBI)TNPO3
Cluster EST : UnigeneHs.193613 [ NCBI ]
CGAP (NCI)Hs.193613
Alternative Splicing GalleryENSG00000064419
Gene ExpressionTNPO3 [ NCBI-GEO ]   TNPO3 [ EBI - ARRAY_EXPRESS ]   TNPO3 [ SEEK ]   TNPO3 [ MEM ]
Gene Expression Viewer (FireBrowse)TNPO3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23534
GTEX Portal (Tissue expression)TNPO3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y5L0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y5L0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y5L0
Splice isoforms : SwissVarQ9Y5L0
PhosPhoSitePlusQ9Y5L0
Domains : Interpro (EBI)ARM-like    ARM-type_fold    Exportin-1/Importin-b-like   
Domain families : Pfam (Sanger)Xpo1 (PF08389)   
Domain families : Pfam (NCBI)pfam08389   
Conserved Domain (NCBI)TNPO3
DMDM Disease mutations23534
Blocks (Seattle)TNPO3
PDB (SRS)4C0O    4C0P    4C0Q    4OL0   
PDB (PDBSum)4C0O    4C0P    4C0Q    4OL0   
PDB (IMB)4C0O    4C0P    4C0Q    4OL0   
PDB (RSDB)4C0O    4C0P    4C0Q    4OL0   
Structural Biology KnowledgeBase4C0O    4C0P    4C0Q    4OL0   
SCOP (Structural Classification of Proteins)4C0O    4C0P    4C0Q    4OL0   
CATH (Classification of proteins structures)4C0O    4C0P    4C0Q    4OL0   
SuperfamilyQ9Y5L0
Human Protein AtlasENSG00000064419
Peptide AtlasQ9Y5L0
HPRD18209
IPIIPI01009481   IPI00395694   IPI00455127   IPI00872398   IPI00946283   IPI00944945   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y5L0
IntAct (EBI)Q9Y5L0
FunCoupENSG00000064419
BioGRIDTNPO3
STRING (EMBL)TNPO3
ZODIACTNPO3
Ontologies - Pathways
QuickGOQ9Y5L0
Ontology : AmiGOreceptor activity  protein binding  cytoplasm  nuclear localization sequence binding  protein transporter activity  nuclear membrane  splicing factor protein import into nucleus  identical protein binding  intracellular membrane-bounded organelle  
Ontology : EGO-EBIreceptor activity  protein binding  cytoplasm  nuclear localization sequence binding  protein transporter activity  nuclear membrane  splicing factor protein import into nucleus  identical protein binding  intracellular membrane-bounded organelle  
NDEx NetworkTNPO3
Atlas of Cancer Signalling NetworkTNPO3
Wikipedia pathwaysTNPO3
Orthology - Evolution
OrthoDB23534
GeneTree (enSembl)ENSG00000064419
Phylogenetic Trees/Animal Genes : TreeFamTNPO3
HOVERGENQ9Y5L0
HOGENOMQ9Y5L0
Homologs : HomoloGeneTNPO3
Homology/Alignments : Family Browser (UCSC)TNPO3
Gene fusions - Rearrangements
Fusion : MitelmanTNPO3/DYM [7q32.1/18q21.1]  
Fusion : MitelmanTNPO3/RCAN1 [7q32.1/21q22.12]  [t(7;21)(q32;q22)]  
Fusion: TCGATNPO3 7q32.1 DYM 18q21.1 OV
Fusion: TCGATNPO3 7q32.1 RCAN1 21q22.12 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTNPO3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TNPO3
dbVarTNPO3
ClinVarTNPO3
1000_GenomesTNPO3 
Exome Variant ServerTNPO3
ExAC (Exome Aggregation Consortium)TNPO3 (select the gene name)
Genetic variants : HAPMAP23534
Genomic Variants (DGV)TNPO3 [DGVbeta]
DECIPHER (Syndromes)7:128594234-128695227  ENSG00000064419
CONAN: Copy Number AnalysisTNPO3 
Mutations
ICGC Data PortalTNPO3 
TCGA Data PortalTNPO3 
Broad Tumor PortalTNPO3
OASIS PortalTNPO3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTNPO3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTNPO3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TNPO3
DgiDB (Drug Gene Interaction Database)TNPO3
DoCM (Curated mutations)TNPO3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TNPO3 (select a term)
intoGenTNPO3
Cancer3DTNPO3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610032   
Orphanet874    10758   
MedgenTNPO3
Genetic Testing Registry TNPO3
NextProtQ9Y5L0 [Medical]
TSGene23534
GENETestsTNPO3
Huge Navigator TNPO3 [HugePedia]
snp3D : Map Gene to Disease23534
BioCentury BCIQTNPO3
ClinGenTNPO3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23534
Chemical/Pharm GKB GenePA134888159
Clinical trialTNPO3
Miscellaneous
canSAR (ICR)TNPO3 (select the gene name)
Probes
Litterature
PubMed101 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTNPO3
EVEXTNPO3
GoPubMedTNPO3
iHOPTNPO3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:23:01 CEST 2017

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