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TNPO2 transportin 2 [ Homo sapiens (human) ]

Gene ID: 30000, updated on 5-Mar-2024

Summary

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Official Symbol
TNPO2provided by HGNC
Official Full Name
transportin 2provided by HGNC
Primary source
HGNC:HGNC:19998
See related
Ensembl:ENSG00000105576 MIM:603002; AllianceGenome:HGNC:19998
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
IPO3; TRN2; KPNB2B; IDDHISD
Summary
Predicted to enable nuclear import signal receptor activity and nuclear localization sequence binding activity. Predicted to be involved in protein import into nucleus. Predicted to act upstream of or within negative regulation of muscle cell differentiation. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 25.6), testis (RPKM 20.6) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
19p13.13
Exon count:
28
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (12699201..12723932, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (12823691..12848419, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (12810015..12834746, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene G protein subunit gamma 14 Neighboring gene F-box and WD repeat domain containing 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14072 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14073 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:12811952-12813151 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:12813649-12814258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12814259-12814867 Neighboring gene small nucleolar RNA, C/D box 135 Neighboring gene small nucleolar RNA, C/D box 41 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10157 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10158 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:12832661-12833279 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:12833280-12833897 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:12833898-12834516 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:12834517-12835133 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12842300-12842847 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10160 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10161 Neighboring gene CRISPRi-FlowFISH-validated RAD23A regulatory element 1 Neighboring gene CRISPRi-FlowFISH-validated TRIR regulatory element Neighboring gene telomerase RNA component interacting RNase Neighboring gene guided entry of tail-anchored proteins factor 3, ATPase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12855878-12856378

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Transportin-2 plays a critical role in nucleocytoplasmic shuttling of oestrogen receptor-α. Moriyama T, et al. Sci Rep, 2020 Oct 29. PMID 33122699, Free PMC Article
  2. TNPO2 operates downstream of DYNC1I1 and promotes gastric cancer cell proliferation and inhibits apoptosis. Gong L, et al. Cancer Med, 2019 Dec. PMID 31605449, Free PMC Article
  3. Transportin-1 and Transportin-2: protein nuclear import and beyond. Twyffels L, et al. FEBS Lett, 2014 May 21. PMID 24780099
  4. Transportin 2 regulates apoptosis through the RNA-binding protein HuR. von Roretz C, et al. J Biol Chem, 2011 Jul 22. PMID 21646354, Free PMC Article
  5. Rules for nuclear localization sequence recognition by karyopherin beta 2. Lee BJ, et al. Cell, 2006 Aug 11. PMID 16901787, Free PMC Article

See all (62) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
    Title: TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
  2. Transportin-2 plays a critical role in nucleocytoplasmic shuttling of oestrogen receptor-alpha.
    Title: Transportin-2 plays a critical role in nucleocytoplasmic shuttling of oestrogen receptor-α.
  3. TNPO2 operates downstream of DYNC1I1 and promotes gastric cancer cell proliferation and inhibits apoptosis.
    Title: TNPO2 operates downstream of DYNC1I1 and promotes gastric cancer cell proliferation and inhibits apoptosis.
  4. IPO3 binds NEMO, promotes its nuclear import, and is critical for DNA damage-dependent NF-kappaB activation.
    Title: IPO3-mediated Nonclassical Nuclear Import of NF-κB Essential Modulator (NEMO) Drives DNA Damage-dependent NF-κB Activation.
  5. Studies indicate potential roles of Tranportin-1 and Transportin-2 beyond protein nuclear import.
    Title: Transportin-1 and Transportin-2: protein nuclear import and beyond.
  6. a role for the nuclear trafficking factor TRN2 (transportin 2) through HuR in cell death
    Title: Transportin 2 regulates apoptosis through the RNA-binding protein HuR.
  7. Nuclear import of fused in sarcoma (FUS) is dependent on Transportin, and interference with this transport pathway leads to cytoplasmic redistribution and recruitment of fused in sarcoma (FUS) into stress granules.
    Title: ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import.
  8. The structure of Kap beta 2 (also known as Transportin) bound to one of its substrates, the NLS of hnRNP A1, that we report here explains the mechanism of substrate displacement by Ran GTPase.
    Title: Rules for nuclear localization sequence recognition by karyopherin beta 2.
  9. Transportin-2 mediates nuclear import of HuR protein in vitro
    Title: Transportin2 functions as importin and mediates nuclear import of HuR.
  10. Karyopherin beta 2B participates in mRNA export from the nucleus
    Title: Karyopherin beta 2B participates in mRNA export from the nucleus.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
MedGen: C5561997 OMIM: 619556 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ12155

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables nuclear import signal receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables nuclear localization sequence binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables small GTPase binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in protein import into nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
transportin-2
Names
importin 3
karyopherin beta 2b, transportin
karyopherin beta-2b
transportin 2 (importin 3, karyopherin beta 2b)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001136195.2 → NP_001129667.1  transportin-2 isoform 2

    See identical proteins and their annotated locations for NP_001129667.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3), as well as variants 2 and 4-7, encodes isoform 2.
    Source sequence(s)
    AB210011, BC072420, DC407313
    Consensus CDS
    CCDS45992.1
    UniProtKB/TrEMBL
    B4DRY5
    Related
    ENSP00000465625.1, ENST00000588216.5
    Conserved Domains (2) summary
    COG5215
    Location:22 → 756
    KAP95; Karyopherin (importin) beta [Intracellular trafficking and secretion]
    sd00044
    Location:93 → 114
    HEAT; HEAT repeat [structural motif]

  2. NM_001136196.2 → NP_001129668.1  transportin-2 isoform 1

    See identical proteins and their annotated locations for NP_001129668.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1), as well as variants 8-10, encodes the longest isoform (1).
    Source sequence(s)
    AC018761, AF019039, BC018314, BC072420, DC377831
    Consensus CDS
    CCDS45991.1
    UniProtKB/Swiss-Prot
    O14655, O14787, Q6IN77
    UniProtKB/TrEMBL
    B4DRY5
    Related
    ENSP00000468434.1, ENST00000592287.5
    Conserved Domains (2) summary
    COG5215
    Location:22 → 756
    KAP95; Karyopherin (importin) beta [Intracellular trafficking and secretion]
    sd00044
    Location:93 → 114
    HEAT; HEAT repeat [structural motif]

  3. NM_001382236.1 → NP_001369165.1  transportin-2 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4), as well as variants 2, 3, and 5-7, encodes isoform 2.
    Source sequence(s)
    AC018761
    Consensus CDS
    CCDS45992.1
    UniProtKB/TrEMBL
    B4DRY5
    Conserved Domains (2) summary
    COG5215
    Location:22 → 756
    KAP95; Karyopherin (importin) beta [Intracellular trafficking and secretion]
    sd00044
    Location:93 → 114
    HEAT; HEAT repeat [structural motif]

  4. NM_001382237.1 → NP_001369166.1  transportin-2 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5), as well as variants 2-4, 6, and 7, encodes isoform 2.
    Source sequence(s)
    AC018761
    Consensus CDS
    CCDS45992.1
    UniProtKB/TrEMBL
    B4DRY5
    Conserved Domains (2) summary
    COG5215
    Location:22 → 756
    KAP95; Karyopherin (importin) beta [Intracellular trafficking and secretion]
    sd00044
    Location:93 → 114
    HEAT; HEAT repeat [structural motif]

  5. NM_001382238.1 → NP_001369167.1  transportin-2 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6), as well as variants 2-5 and 7, encodes isoform 2.
    Source sequence(s)
    AC018761
    Consensus CDS
    CCDS45992.1
    UniProtKB/TrEMBL
    B4DRY5
    Conserved Domains (2) summary
    COG5215
    Location:22 → 756
    KAP95; Karyopherin (importin) beta [Intracellular trafficking and secretion]
    sd00044
    Location:93 → 114
    HEAT; HEAT repeat [structural motif]

  6. NM_001382239.1 → NP_001369168.1  transportin-2 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7), as well as variants 2-6, encodes isoform 2.
    Source sequence(s)
    AC018761
    Consensus CDS
    CCDS45992.1
    UniProtKB/TrEMBL
    B4DRY5
    Related
    ENSP00000397379.2, ENST00000450764.6
    Conserved Domains (2) summary
    COG5215
    Location:22 → 756
    KAP95; Karyopherin (importin) beta [Intracellular trafficking and secretion]
    sd00044
    Location:93 → 114
    HEAT; HEAT repeat [structural motif]

  7. NM_001382240.1 → NP_001369169.1  transportin-2 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8), as well as variants 1, 9, and 10, encodes the longest isoform (1).
    Source sequence(s)
    AC018761
    Consensus CDS
    CCDS45991.1
    UniProtKB/Swiss-Prot
    O14655, O14787, Q6IN77
    UniProtKB/TrEMBL
    B4DRY5
    Conserved Domains (2) summary
    COG5215
    Location:22 → 756
    KAP95; Karyopherin (importin) beta [Intracellular trafficking and secretion]
    sd00044
    Location:93 → 114
    HEAT; HEAT repeat [structural motif]

  8. NM_001382241.1 → NP_001369170.1  transportin-2 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (9), as well as variants 1, 8, and 10, encodes the longest isoform (1).
    Source sequence(s)
    AC018761
    Consensus CDS
    CCDS45991.1
    UniProtKB/Swiss-Prot
    O14655, O14787, Q6IN77
    UniProtKB/TrEMBL
    B4DRY5
    Related
    ENSP00000407182.1, ENST00000425528.6
    Conserved Domains (2) summary
    COG5215
    Location:22 → 756
    KAP95; Karyopherin (importin) beta [Intracellular trafficking and secretion]
    sd00044
    Location:93 → 114
    HEAT; HEAT repeat [structural motif]

  9. NM_001382242.1 → NP_001369171.1  transportin-2 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (10), as well as variants 1, 8, and 9, encodes the longest isoform (1).
    Source sequence(s)
    AC018761
    Consensus CDS
    CCDS45991.1
    UniProtKB/Swiss-Prot
    O14655, O14787, Q6IN77
    UniProtKB/TrEMBL
    B4DRY5
    Conserved Domains (2) summary
    COG5215
    Location:22 → 756
    KAP95; Karyopherin (importin) beta [Intracellular trafficking and secretion]
    sd00044
    Location:93 → 114
    HEAT; HEAT repeat [structural motif]

  10. NM_001382243.1 → NP_001369172.1  transportin-2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC018761
    UniProtKB/TrEMBL
    B4DRY5

  11. NM_013433.5 → NP_038461.2  transportin-2 isoform 2

    See identical proteins and their annotated locations for NP_038461.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2), as well as variants 3-7, encodes isoform 2.
    Source sequence(s)
    BC072420
    Consensus CDS
    CCDS45992.1
    UniProtKB/TrEMBL
    B4DRY5
    Related
    ENSP00000349321.4, ENST00000356861.9
    Conserved Domains (2) summary
    COG5215
    Location:22 → 756
    KAP95; Karyopherin (importin) beta [Intracellular trafficking and secretion]
    sd00044
    Location:93 → 114
    HEAT; HEAT repeat [structural motif]

RNA

  1. NR_167974.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC018761

  2. NR_167975.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC018761

  3. NR_167976.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC018761

  4. NR_167977.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC018761

  5. NR_167978.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC018761

  6. NR_167979.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC018761

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    12699201..12723932 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    12823691..12848419 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O14787.3 GenPept UniProtKB/Swiss-Prot:O14787

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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