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    TNPO2 transportin 2 [ Homo sapiens (human) ]

    Gene ID: 30000, updated on 2-Nov-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. Implicated in intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 25.6), testis (RPKM 20.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TNPO2 in Genome Data Viewer
    Location:
    19p13.13
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (12699201..12723932, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (12823691..12848419, complement)
    RS_2024_09 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 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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    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 Variation Viewer (GRCh37.p13)

    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_2024_08

    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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