C7orf25 (Chromosome 7 open reading frame 25) is a protein‑coding gene in the human genome. It is located on the short (p) arm of chromosome 7, cytogenetic band 7p15.3, and spans approximately 8 kilobases of genomic DNA (NCBI Gene ID: 84972). The gene is transcribed into multiple RNA isoforms, of which at least two protein‑coding transcripts have been annotated.
Gene structure and transcripts
- Location: 7p15.3 (GRCh38/hg38: chr7: 25,425,101‑25,433,274)
- Exons: The canonical transcript (NM_018050) comprises 6 exons; alternative splicing generates at least one additional isoform lacking exon 3.
- Protein product: The primary isoform encodes a protein of 215 amino acids, predicted to have a molecular weight of ~24 kDa. The protein contains a conserved domain of unknown function (DUF4841) that is retained in orthologous proteins across mammals. No signal peptide or transmembrane region has been identified, and subcellular localization predictions suggest a predominantly nuclear distribution.
Function
The precise biological role of C7orf25 remains uncharacterized. Bioinformatic analyses indicate potential involvement in RNA‑binding or transcriptional regulation, but experimental validation is lacking. Consequently, the gene is classified as “protein-coding, function unknown” in major genomic databases.
Expression profile
RNA‑seq data from the Genotype‑Tissue Expression (GTEx) project show low‑to‑moderate expression of C7orf25 in a variety of tissues, with relatively higher levels observed in testis, thyroid, and whole blood. Expression appears to be ubiquitous but not tissue‑specific.
Evolutionary conservation
Orthologs of C7orf25 have been identified in other vertebrates, including mouse (Mus musculus) and zebrafish (Danio rerio), suggesting evolutionary conservation of the encoded protein. The DUF4841 domain is the primary conserved element among these species.
Clinical and biomedical relevance
To date, no definitive disease associations have been established for C7orf25. Genome‑wide association studies (GWAS) have not reported statistically significant links between variants in C7orf25 and human phenotypes. However, occasional copy‑number variation (CNV) calls overlapping the gene locus have been observed in genomic screening datasets; the clinical significance of these findings remains uncertain.
Research tools and resources
- NCBI Gene: https://www.ncbi.nlm.nih.gov/gene/84972
- Ensembl: https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000136295
- UniProt: entry Q6P5S2 (C7orf25_HUMAN) provides protein sequence and functional annotations.
- GTEx Portal: expression data across human tissues.
Summary
C7orf25 is a conserved human gene encoding a small nuclear protein of uncertain function. While it is expressed in multiple tissues and retains a conserved DUF4841 domain, experimental evidence defining its molecular role or disease relevance is presently lacking. Ongoing functional genomics studies may clarify its biological significance.