TNPO2 (transportin 2)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 30000
Gene name Transportin 2
Gene symbol TNPO2
Synonyms (NCBI Gene)
IDDHISDIPO3KPNB2BTRN2
Chromosome 19
Chromosome location 19p13.13
miRNA miRNA information provided by mirtarbase database.
817
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (817)
miRTarBase ID miRNA Experiments Reference
MIRT019238 hsa-miR-331-3p Sequencing 20371350
MIRT021089 hsa-miR-186-5p Sequencing 20371350
MIRT021306 hsa-miR-125a-5p Sequencing 20371350
MIRT021490 hsa-miR-191-5p Sequencing 20371350
MIRT050201 hsa-miR-25-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (17)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 12896982, 21044950, 21516116, 25416956, 31515488, 32296183, 32814053
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus TAS 9298975
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603002 19998 ENSG00000105576
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14787
Protein name Transportin-2 (Karyopherin beta-2b)
Protein function Probably functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore comple
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03810 IBN_N 31 → 99 Importin-beta N-terminal domain Family
Sequence 
MDWQPDEQGLQQVLQLLKDSQSPNTATQRIVQDKLKQLNQFPDFNNYLIFVLTRLKSEDE
PTRSLSGLILKNNVKAHYQSFPPPVADFIKQECLNNIGDASSLIRATIGILITTIASKGE
LQMWPELLPQLCNLLNSEDYNTCEGAFGALQKICEDSSELLDSDALNRPLNIMIPKFLQF
FKHCSPKIRSHAIACVNQFIMDRAQALMDNIDTFIEHLFALAVDDDPEVRKNVCRALVML
LEVRIDRLIPHMHSIIQYMLQRTQDHDENVALEACEFWLTLAEQPICKEVLASHLVQLIP
ILVNGMKYSEIDIILLKGDVEEDEAVPDSEQDIKPRFHKSRTVTLPHEAERPDGSEDAED
DDDDDALSDWNLRKCSAAALDVLANVFREELLPHLLPLLKGLLFHPEWVVKESGILVLGA
IAEGCMQGMVPYLPELIPHLIQCLSDKKALVRSIACWTLSRYAHWVVSQPPDMHLKPLMT
ELLKRILDGNKRVQEAACSAFATLEEEACTELVPYLSYILDTLVFAFGKYQHKNLLILYD
AIGTLADSVGHHLNQPEYIQKLMPPLIQKWNELKDEDKDLFPLLECLSSVATALQSGFLP
YCEPVYQRCVTLVQKTLAQAMMYTQHPEQYEAPDKDFMIVALDLLSGLAEGLGGHVEQLV
ARSNIMTLLFQCMQDSMPEVRQSSFALLGDLTKACFIHVKPCIAEFMPILGTNLNPEFIS
VCNNATWAIGEICMQMGAEMQPYVQMVLNNLVEIINRPNTPKTLLENTGRLTSPSAIPAI
TIGRLGYVCPQEVAPMLQQFIRPWCTSLRNIRDNEEKDSAFRGICMMIGVNPGGVVQDFI
FFCDAVASWVSPKDDLRDMFYKILHGFKDQVGEDNWQQFSEQFPPLLKERLAAFYGV
Sequence length 897
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Nucleocytoplasmic transport  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies Pathogenic; Likely pathogenic rs2145582779, rs2145550093, rs2145550047, rs2145492785, rs2145464965, rs2145464604, rs2145492753, rs2512705615, rs2512705295 RCV001730148
RCV001730149
RCV001730150
RCV001730151
RCV001754568
View all (4 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder Likely pathogenic rs2145496104 RCV001780040
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TNPO2-related disorder Pathogenic; Likely pathogenic rs2145582779, rs2512652630 RCV004728786
RCV003402800
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (5)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
DIFFUSE LARGE B-CELL LYMPHOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (6)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Diffuse Large B-Cell Lymphoma Diffuse Lymphoma GWASCAT_DG 31407831
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis Multiple Sclerosis GWASCAT_DG 31407831
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Neoplasms Neoplasms BEFREE 31605449
★★★★★
★☆☆☆☆
Found in Text Mining only
Polycystic Ovary Syndrome Polycystic Ovary Syndrome CTD_human_DG 21411543
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Sclerocystic Ovaries Sclerocystic Ovaries CTD_human_DG 21411543
★★★★★
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stomach neoplasms Pubtator 31605449 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only