Ask about this productRelated genes to: TNPO2 antibody
- Gene:
- TNPO2 NIH gene
- Name:
- transportin 2
- Previous symbol:
- -
- Synonyms:
- IPO3, KPNB2B, FLJ12155, TRN2
- Chromosome:
- 19p13.13
- Locus Type:
- gene with protein product
- Date approved:
- 2003-12-09
- Date modifiied:
- 2014-11-19
Related products to: TNPO2 antibody
Related articles to: TNPO2 antibody
- In embryos, the nuclear transport receptor IMB-2 (Importin Beta Family-2, a karyopherin β2) preferentially localizes to the nuclear envelope along with its encoding mRNA. This suggests that mRNA is locally translated at the nuclear envelope. To test whether two putative human orthologs, Transportin 1 and Transportin 2 exhibited similar mRNA localization and local translation, we performed smiFISH and microscopy in U2OS, HeLa, and human pluripotent stem cells. Neither human nor mRNA localized to the nuclear envelope in any tested human cell type. However, the human TNPO1 protein and the IMB-2 protein both localized to the nucleus and its periphery. This suggests that despite their shared functional roles and high amino acid sequence identities (52% and 51%, respectively), these karyopherins differed in their translational dynamics. - Source: PubMed
Publication date: 2026/05/21
Basu AmbikaTayefeh NoraWinkenbach Lindsay PNishimura Erin Osborne - We report an 87-year-old female with a history of intellectual disability, severe speech impairment and behavioral issues. She was globally delayed in childhood. In adolescence, she had hallucinations, behavioral issues and was institutionalized. Her behavioral issues were treated, and her medical and behavioral course was stable until her 80's when she began to decline cognitively. She died at age 87. Exome sequencing revealed a novel predicted damaging missense variant (c.1913T>G; p.Met638Arg; NM_001136196.2) in the gene encoding Transportin-2 (TNPO2). Heterozygous variants in TNPO2 have been recently associated with an intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies (IDDHISD; MIM:619556). Postmortem pathological examination of her brain revealed focal neuronal depletion in the dentate gyrus, CA1, and hilar regions of the hippocampus. These findings are consistent with human gene expression data showing normal to increased expression of TNPO2 in the dentate gyrus and CA1 region of the hippocampus. We suggest that the p.(Met638Arg) variant in TNPO2 is potentially disease-causing and associated with IDDHISD. - Source: PubMed
Publication date: 2025/11/27
Cohen RyanGanapathi MythilyZiegler AlbanGeltzeiler AlexaChung Wendy K - Genetic diagnosis is fast and cheap, challenging our capacity to evaluate the functional impact of novel disease-causing variants or identify potential therapeutics. Model organisms including C. elegans present the possibility of systematically modelling genetic diseases, yet robust, high-throughput methods have been lacking. - Source: PubMed
Publication date: 2025/09/26
O'Brien Thomas JNavarro Eneko PBarroso ConsueloMenzies LaraMartinez-Perez EnriqueCarling DavidBrown André E X - Bladder cancer (BLCA) is a major cancer of the genitourinary system. Although cystoscopy is the standard protocol for diagnosing BLCA clinically, this procedure is invasive and expensive. Several urine-based markers for BLCA have been identified and investigated, but none has shown sufficient sensitivity and specificity. These observations underscore the importance of discovering novel BLCA biomarkers and developing a noninvasive method for detection of BLCA. Exploring the cancer secretome is a good starting point for the development of noninvasive biomarkers for cancer diagnosis. - Source: PubMed
Publication date: 2024/01/09
Chen Yi-TingTu Wei-JuYe Zong-HanWu Chih-ChingUeng Shir-HwaYu Kai-JieChen Chien-LunPeng Pei-HuaYu Jau-SongChang Ying-Hsu - The early diagnosis of Non-small cell lung cancer (NSCLC) is of prime importance to improve the patient's survivability and quality of life. Being a heterogeneous disease at the molecular and cellular level, the biomarkers responsible for the heterogeneity aid in distinguishing NSCLC into its prominent subtypes-adenocarcinoma and squamous cell carcinoma. Moreover, if identified, these biomarkers could pave the path to targeted therapy. Through this work, a novel explainable AI (XAI)-guided deep learning framework is proposed that assists in discovering a set of significant NSCLC-relevant biomarkers using methylation data. - Source: PubMed
Publication date: 2023/10/20
Dwivedi KountayRajpal AnkitRajpal SheetalKumar VirendraAgarwal ManojKumar Naveen