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    TNPO2 transportin 2 [ Homo sapiens (human) ]

    Gene ID: 30000, updated on 10-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Ubiquitous expression in brain (RPKM 25.6), testis (RPKM 20.6) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    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

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    General gene information

    Clone Names

    • FLJ12155

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables nuclear import signal receptor activity  
    enables nuclear localization sequence binding  
    enables protein binding PubMed 
    enables small GTPase binding  
    Process Evidence Code Pubs
    involved_in protein import into nucleus  
    Component Evidence Code Pubs
    is_active_in cytoplasm  
    is_active_in nucleus  

    General protein information

    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)

    NEW Try the new Transcript table

    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)
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