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C15orf62

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C15orf62

C15orf62, also known as chromosome 15 open reading frame 62, is a protein-coding gene variant (NM_001130448.3) with a molecular weight of 19679 Da. The C15orf62 gene is localized in the mitochondria of the cell and exhibits relatively low expression across most human tissues.

Gene

The gene has a base pair length of 2,470 and contains 1 exon encoding for 175 amino acid protein.

Human chromosomal position of C15orf62 gene on the long arm of chromosome 15.

Locus

C15orf62 is located on cytogenetic band 15q15.1 and is plus-strand oriented.

Homology

Paralogs

C15orf62 has no paralogs as determined by a BLAST run on NCBI Protein using the human C15orf62 sequence against the non-redundant database. The lack of significant results indicated that the gene has no duplications within the species.

Orthologs

The C15orf62 gene has many orthologs but is only found in vertebrates. The most divergent species studied so far are within the class Chondrichthyes (cartilaginous fish), such as the horn shark (Heterodontus francisci), which diverged approximately 462 million years ago (MYA).

The gene is present across mammals, birds, reptiles, and amphibians, though its sequence similarity and identity to the human ortholog vary significantly. For example, reptiles such as the Pinta Island tortoise (Chelonoidis abingdonii) and the loggerhead sea turtle (Caretta caretta) exhibit around 40% sequence identity and over 60% similarity. However, amphibians like the tiny Cayenne caecilian (Microcaecilia unicolor) and the two-lined caecilian (Rhinatrema bivittatum) have even more divergent sequences, with identity dropping as low as 26-28%.

This pattern suggests that while C15orf62 is well-conserved within the vertebrate lineage, its function may have diverged or adapted significantly across different classes, especially in more evolutionarily distant groups such as amphibians and sharks.

Displays ortholog data coinciding with human C15orf62.

Protein

Sequence

Modifications

Structure

Function

Expression

C15orf62 is expressed primarily in the lungs of normal human tissue mRNA.

Clinical Significance

C15orf62 has been identified has a methylene driven gene in thyroid cancer. Hypomethylation causes gene over-expression, and hypermethylation leads to low gene expression, both key factors in tumor development. C15orf62 has been linked to breast cancer susceptibility performing a role mitochondrial ribosomal biogenesis, assembling mitochondrial ribosomes.

References

  1. "C15orf62 chromosome 15 open reading frame 62 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2024-09-20.
  2. Chen, Zhiwei; Liu, Xiaoli; Liu, Fangfang; Zhang, Guolie; Tu, Haijian; Lin, Wei; Lin, Haifeng (2021-08-29). "Identification of 4-methylation driven genes based prognostic signature in thyroid cancer: an integrative analysis based on the methylmix algorithm". Aging (Albany NY). 13 (16): 20164–20178. doi:10.18632/aging.203338. ISSN 1945-4589. PMC 8436924. PMID 34456184.
  3. Podder, Bristy Rani; Kheya, Ilora Shabnam; Elias, Sabrina Moriom (2024-02-01). "Breast cancer risk SNPs and associated expression QTLs focusing Bangladeshi population: An in silico analysis". Human Gene. 39: 201270. doi:10.1016/j.humgen.2024.201270. ISSN 2773-0441.