User:MolecularPilot/Evx2
Even skipped homeobox 2 is a protein that is encoded by the Evx2 gene, located on the second chromosome in humans[1] and in mice.[2]
Evx2 is a member of the homeobox family, a group of proteins which are essential for regulating transcription (the conversion of nuclear DNA into mRNA) and are thus essential for managing gene expression.[3]
Structure
[edit]Evx2 is a polypeptide chain consisting of 476 amino acids, with a molecular weight of 47,800 Da.[4]
Its function as a transcription factor is suggested by the presence of a homeodomain, a conserved protein domain found in Evx2 that makes binding to double-stranded DNA easier.[5]
Gene Location
[edit]Evx2 is an active human homeobox gene located upstream of the HOX4 sequences.[6] It is identified as a homolog of the murine Evx-2 gene and shows strong evolutionary relationships to other vertebrate homeoboxes, such as murine Evx1 and frog Xhox3.[6]
Function
[edit]Role in Development
[edit]Evx2 is implicated in developmental processes, particularly related to chondrogenesis (cartilage formation) and osteogenesis (bone formation), as indicated by its amplification in teratomas, which are tumors that often contain differentiated tissues.[7]
Additionally, Evx2, along with the 5' HoxD genes, is implicated in limb and genitalia development, highlighting its importance in vertebrate morphogenesis, the process by which cells move during early development to change the shape of tissues.
Clinical Significance
[edit]Ovarian Teratomas
[edit]Amplifications of the Evx2 gene, along with several other genetic alterations, are frequently observed in a specific kind of ovarian tumor referred to as ovarian mature cystic teratomas, indicating a potential role in the development of this specific type of tumor.[7]
Ovarian mature cystic teratomas, also known as dermoid cysts, are a common form of benign ovarian tumor that can contain various types of tissues, including hair, skin, and even teeth, reflecting their origin from pluripotent germ cells[8] and highlighting the importance of Evx2 to the differentiation of these cells.[7]
References
[edit]- ^ "Gene: EVX2 (ENSG00000174279) - Summary - Homo_sapiens - Ensembl genome browser 113". asia.ensembl.org. Retrieved 2024-10-24.
- ^ "Evx2 even-skipped homeobox 2 [Mus musculus (house mouse)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2024-10-24.
- ^ "EVX2 even-skipped homeobox 2 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2024-10-27.
- ^ "UniProt". www.uniprot.org. Retrieved 2024-10-26.
- ^ "UniProt". www.uniprot.org. Retrieved 2024-10-27.
- ^ a b D'Esposito, M.; Morelli, F.; Acampora, D.; Migliaccio, E.; Simeone, A.; Boncinelli, E. (1991-05-01). "EVX2, a human homeobox gene homologous to the even-skipped segmentation gene, is localized at the 5' end of HOX4 locus on chromosome 2". Genomics. 10 (1): 43–50. doi:10.1016/0888-7543(91)90482-t. ISSN 0888-7543. PMID 1675198.
- ^ a b c Wang, Wen-Chung; Hou, Tai-Cheng; Kuo, Chen-Yun; Lai, Yen-Chein (2024-06-21). "Amplifications of EVX2 and HOXD9-HOXD13 on 2q31 in mature cystic teratomas of the ovary identified by array comparative genomic hybridization may explain teratoma characteristics in chondrogenesis and osteogenesis". Journal of Ovarian Research. 17 (1): 129. doi:10.1186/s13048-024-01458-5. ISSN 1757-2215. PMID 38907278.
{{cite journal}}: CS1 maint: unflagged free DOI (link) - ^ Cong, Luping; Wang, Sijia; Yeung, Suet Ying; Lee, Jacqueline Ho Sze; Chung, Jacqueline Pui Wah; Chan, David Yiu Leung (2023-01-01). "Mature Cystic Teratoma: An Integrated Review". International Journal of Molecular Sciences. 24 (7): 6141. doi:10.3390/ijms24076141. ISSN 1422-0067.
{{cite journal}}: CS1 maint: unflagged free DOI (link)