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TNPO3 (transportin 3)

Identity

Alias (NCBI)IPO12
LGMD1F
LGMDD2
MTR10A
TRN-SR
TRN-SR2
TRNSR
HGNC (Hugo) TNPO3
HGNC Alias symbTRN-SR
MTR10A
TRN-SR2
IPO12
HGNC Alias nameimportin 12
HGNC Previous nameLGMD1F
HGNC Previous namelimb girdle muscular dystrophy 1F (autosomal dominant)
LocusID (NCBI) 23534
Atlas_Id 46863
Location 7q32.1  [Link to chromosome band 7q32]
Location_base_pair Starts at 128954180 and ends at 129055173 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)
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    transportin 3
AliasesIPO12; LGMD1F; LGMDD2; MTR10A; 
TRN-SR; TRN-SR2; TRNSR
GeneCards (Weizmann)TNPO3
Ensembl hg19 (Hinxton)ENSG00000064419 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000064419 [Gene_View]  ENSG00000064419 [Sequence]  chr7:128954180-129055173 [Contig_View]  TNPO3 [Vega]
ICGC DataPortalENSG00000064419
TCGA cBioPortalTNPO3
AceView (NCBI)TNPO3
Genatlas (Paris)TNPO3
SOURCE (Princeton)TNPO3
Genetics Home Reference (NIH)TNPO3
Genomic and cartography
GoldenPath hg38 (UCSC)TNPO3  -     chr7:128954180-129055173 -  7q32.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TNPO3  -     7q32.1   [Description]    (hg19-Feb_2009)
GoldenPathTNPO3 - 7q32.1 [CytoView hg19]  TNPO3 - 7q32.1 [CytoView hg38]
ImmunoBaseENSG00000064419
Genome Data Viewer NCBITNPO3 [Mapview hg19]  
OMIM608423   610032   
Gene and transcription
Genbank (Entrez)AF145029 AJ133769 AK001263 AK022910 AK225999
RefSeq transcript (Entrez)NM_001191028 NM_001382216 NM_001382217 NM_001382218 NM_001382219 NM_001382220 NM_001382221 NM_001382222 NM_001382223 NM_012470
Consensus coding sequences : CCDS (NCBI)TNPO3
Gene ExpressionTNPO3 [ NCBI-GEO ]   TNPO3 [ EBI - ARRAY_EXPRESS ]   TNPO3 [ SEEK ]   TNPO3 [ MEM ]
Gene Expression Viewer (FireBrowse)TNPO3 [ Firebrowse - Broad ]
GenevisibleExpression of TNPO3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23534
GTEX Portal (Tissue expression)TNPO3
Human Protein AtlasENSG00000064419-TNPO3 [pathology]   [cell]   [tissue]
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
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
PDB (RSDB)4C0O    4C0P    4C0Q    4OL0    6GX9   
PDB Europe4C0O    4C0P    4C0Q    4OL0    6GX9   
PDB (PDBSum)4C0O    4C0P    4C0Q    4OL0    6GX9   
PDB (IMB)4C0O    4C0P    4C0Q    4OL0    6GX9   
Structural Biology KnowledgeBase4C0O    4C0P    4C0Q    4OL0    6GX9   
SCOP (Structural Classification of Proteins)4C0O    4C0P    4C0Q    4OL0    6GX9   
CATH (Classification of proteins structures)4C0O    4C0P    4C0Q    4OL0    6GX9   
SuperfamilyQ9Y5L0
AlphaFold pdb e-kbQ9Y5L0   
Human Protein Atlas [tissue]ENSG00000064419-TNPO3 [tissue]
HPRD18209
Protein Interaction databases
DIP (DOE-UCLA)Q9Y5L0
IntAct (EBI)Q9Y5L0
BioGRIDTNPO3
STRING (EMBL)TNPO3
ZODIACTNPO3
Ontologies - Pathways
QuickGOQ9Y5L0
Ontology : AmiGOprotein binding  nuclear envelope  annulate lamellae  cytoplasm  protein import into nucleus  protein import into nucleus  small GTPase binding  identical protein binding  intracellular membrane-bounded organelle  nuclear import signal receptor activity  
Ontology : EGO-EBIprotein binding  nuclear envelope  annulate lamellae  cytoplasm  protein import into nucleus  protein import into nucleus  small GTPase binding  identical protein binding  intracellular membrane-bounded organelle  nuclear import signal receptor activity  
NDEx NetworkTNPO3
Atlas of Cancer Signalling NetworkTNPO3
Wikipedia pathwaysTNPO3
Orthology - Evolution
OrthoDB23534
GeneTree (enSembl)ENSG00000064419
Phylogenetic Trees/Animal Genes : TreeFamTNPO3
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]  
Fusion : QuiverTNPO3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTNPO3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TNPO3
dbVarTNPO3
ClinVarTNPO3
MonarchTNPO3
1000_GenomesTNPO3 
Exome Variant ServerTNPO3
GNOMAD BrowserENSG00000064419
Varsome BrowserTNPO3
ACMGTNPO3 variants
VarityQ9Y5L0
Genomic Variants (DGV)TNPO3 [DGVbeta]
DECIPHERTNPO3 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DTNPO3
Mutations and Diseases : HGMDTNPO3
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTNPO3
DgiDB (Drug Gene Interaction Database)TNPO3
DoCM (Curated mutations)TNPO3
CIViC (Clinical Interpretations of Variants in Cancer)TNPO3
Cancer3DTNPO3
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608423    610032   
Orphanet874    10758   
DisGeNETTNPO3
MedgenTNPO3
Genetic Testing Registry TNPO3
NextProtQ9Y5L0 [Medical]
GENETestsTNPO3
Target ValidationTNPO3
Huge Navigator TNPO3 [HugePedia]
ClinGenTNPO3
Clinical trials, drugs, therapy
MyCancerGenomeTNPO3
Protein Interactions : CTDTNPO3
Pharm GKB GenePA134888159
PharosQ9Y5L0
Clinical trialTNPO3
Miscellaneous
canSAR (ICR)TNPO3
HarmonizomeTNPO3
DataMed IndexTNPO3
Probes
Litterature
PubMed133 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTNPO3
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 15:35:50 CEST 2021

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