C57BL/6JCya-Ppip5k2em1/Cya
Common Name:
Ppip5k2-KO
Product ID:
S-KO-18810
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Ppip5k2-KO
Strain ID
KOCMP-227399-Ppip5k2-B6J-VA
Gene Name
Product ID
S-KO-18810
Gene Alias
Cfap160; D330021B20; Hisppd1; Vip2; mKIAA0433
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
1
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Ppip5k2em1/Cya mice (Catalog S-KO-18810) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000042509
NCBI RefSeq
NM_173760
Target Region
Exon 9
Size of Effective Region
~0.8 kb
Detailed Document
Overview of Gene Research
Ppip5k2, or Diphosphoinositol Pentakisphosphate Kinase 2, is an inositol pyrophosphate kinase. It interconverts 5-IP7 and IP8, key members of the inositol pyrophosphate cell-signaling family, and functions at the interface of cell signaling and bioenergetic homeostasis [6]. Its kinase activity has reversible nature, along with unique ligand-stimulated ATPase activity and substrate traveling between two ligand-binding sites [5].
In multiple disease conditions, Ppip5k2 shows significant effects. In colorectal carcinoma (CRC), it is highly expressed and promotes pathogenesis by facilitating DNA homologous recombination repair independent of its kinase activity. S1006 dephosphorylation leads to its nuclear translocation, enhancing DNA repair ability of CRC cells [1]. In non-small lung cancer (NSCLC), it facilitates proliferation and metastasis through the AKT/mTOR signaling pathway [3]. In ovarian cancer, a LncRNA (LncOVM) stabilizes Ppip5k2, promoting complement C5 secretion, which attracts myeloid-derived suppressor cells (MDSCs) in the tumor microenvironment to facilitate metastasis [7]. In a four-generation family, potential variants in Ppip5k2 were identified as candidate genetic contributors to familial keratoconus (KC). Gene-trap mouse models showed corneal phenotypes resembling KC, such as irregular corneal surfaces and thinning [2]. In three Ppip5k2 mouse models, CCT decreased, pachymetry maps revealed abnormal thinning, slit lamp examinations showed corneal abnormalities, and histological analysis showed epithelial thickening and stromal layer damage [4]. Mutations in Ppip5k2 in humans and mice are associated with hearing loss. Mouse models with a targeted deletion of the Ppip5k2 phosphatase domain exhibit cochlear outer hair cell degeneration and elevated hearing thresholds [6].
In conclusion, Ppip5k2 plays crucial roles in multiple biological processes and disease conditions. Its functions in facilitating DNA repair, promoting cancer cell proliferation and metastasis, and its association with KC and hearing loss are well-demonstrated through various in vivo and functional studies, especially with the help of gene-trap and knockout mouse models. These studies provide potential therapeutic targets for related diseases.
References:
1. Cao, Chen-Hui, Ling, Han, Han, Kai, Xie, Dan, Wang, Feng-Wei. 2021. PPIP5K2 promotes colorectal carcinoma pathogenesis through facilitating DNA homologous recombination repair. In Oncogene, 40, 6680-6691. doi:10.1038/s41388-021-02052-5. https://pubmed.ncbi.nlm.nih.gov/34645979/
2. Khaled, Mariam Lofty, Bykhovskaya, Yelena, Gu, Chunfang, Rabinowitz, Yaron S, Liu, Yutao. 2019. PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus. In Scientific reports, 9, 19406. doi:10.1038/s41598-019-55866-5. https://pubmed.ncbi.nlm.nih.gov/31852976/
3. Yang, Qi, Cao, Chenhui, Wu, Binghuo, Xu, Chuan, Huang, Xiaoyi. 2024. PPIP5K2 Facilitates Proliferation and Metastasis of Non-Small Lung Cancer (NSCLC) through AKT Signaling Pathway. In Cancers, 16, . doi:10.3390/cancers16030590. https://pubmed.ncbi.nlm.nih.gov/38339341/
4. Akoto, Theresa, Hadvina, Rachel, Jones, Skyler, Smith, Sylvia B, Liu, Yutao. . Identification of Keratoconus-Related Phenotypes in Three Ppip5k2 Mouse Models. In Investigative ophthalmology & visual science, 65, 22. doi:10.1167/iovs.65.6.22. https://pubmed.ncbi.nlm.nih.gov/38869368/
5. An, Yi, Jessen, Henning J, Wang, Huanchen, Shears, Stephen B, Kireev, Dmitri. 2019. Dynamics of Substrate Processing by PPIP5K2, a Versatile Catalytic Machine. In Structure (London, England : 1993), 27, 1022-1028.e2. doi:10.1016/j.str.2019.03.007. https://pubmed.ncbi.nlm.nih.gov/30956131/
6. Yousaf, Rizwan, Gu, Chunfang, Ahmed, Zubair M, Shears, Stephen B, Riazuddin, Saima. 2018. Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse. In PLoS genetics, 14, e1007297. doi:10.1371/journal.pgen.1007297. https://pubmed.ncbi.nlm.nih.gov/29590114/
7. Li, Yichen, Zhang, Qian, Wu, Mandi, Zhou, Shengtao, He, Ming-Liang. 2022. Suppressing MDSC Infiltration in Tumor Microenvironment Serves as an Option for Treating Ovarian Cancer Metastasis. In International journal of biological sciences, 18, 3697-3713. doi:10.7150/ijbs.70013. https://pubmed.ncbi.nlm.nih.gov/35813475/
Quality Control Standard
Sperm Test
Pre-cryopreservation: Measurement of sperm concentration, determination of sperm viability.
Post-cryopreservation: A vial of cryopreserved sperms is selected for in-vitro fertilization from each batch.
Environmental Standards:SPF
Available Region:Global
Source:Cyagen