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TNPO2 transportin 2 [ Homo sapiens (human) ]

Gene ID: 30000, updated on 27-Nov-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, Nov 2024]
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

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: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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_001136195.2NP_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:22756
    KAP95; Karyopherin (importin) beta [Intracellular trafficking and secretion]
    sd00044
    Location:93114
    HEAT; HEAT repeat [structural motif]
  2. NM_001136196.2NP_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:22756
    KAP95; Karyopherin (importin) beta [Intracellular trafficking and secretion]
    sd00044
    Location:93114
    HEAT; HEAT repeat [structural motif]
  3. NM_001382236.1NP_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:22756
    KAP95; Karyopherin (importin) beta [Intracellular trafficking and secretion]
    sd00044
    Location:93114
    HEAT; HEAT repeat [structural motif]
  4. NM_001382237.1NP_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:22756
    KAP95; Karyopherin (importin) beta [Intracellular trafficking and secretion]
    sd00044
    Location:93114
    HEAT; HEAT repeat [structural motif]
  5. NM_001382238.1NP_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:22756
    KAP95; Karyopherin (importin) beta [Intracellular trafficking and secretion]
    sd00044
    Location:93114
    HEAT; HEAT repeat [structural motif]
  6. NM_001382239.1NP_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:22756
    KAP95; Karyopherin (importin) beta [Intracellular trafficking and secretion]
    sd00044
    Location:93114
    HEAT; HEAT repeat [structural motif]
  7. NM_001382240.1NP_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:22756
    KAP95; Karyopherin (importin) beta [Intracellular trafficking and secretion]
    sd00044
    Location:93114
    HEAT; HEAT repeat [structural motif]
  8. NM_001382241.1NP_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:22756
    KAP95; Karyopherin (importin) beta [Intracellular trafficking and secretion]
    sd00044
    Location:93114
    HEAT; HEAT repeat [structural motif]
  9. NM_001382242.1NP_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:22756
    KAP95; Karyopherin (importin) beta [Intracellular trafficking and secretion]
    sd00044
    Location:93114
    HEAT; HEAT repeat [structural motif]
  10. NM_001382243.1NP_001369172.1  transportin-2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC018761
    UniProtKB/TrEMBL
    B4DRY5
  11. NM_013433.5NP_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:22756
    KAP95; Karyopherin (importin) beta [Intracellular trafficking and secretion]
    sd00044
    Location:93114
    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)