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CDCA7
cell division cycle associated 7
The CDCA7 gene provides instructions for making a protein involved in the regulation of cell division and proliferation. The CDCA7 gene is central to cellular processes, particularly in regulating cell growth and division.
CDCA7 is located on the long (q) arm of chromosome 2, at band 2q31.1. Arm ratio per GRCh38 - banding schematic.
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Overview
The CDCA7 gene, or cell division cycle associated 7, encodes a protein that is thought to be involved in fundamental cellular processes. This protein helps regulate cell proliferation and is associated with mechanisms controlling the cell cycle. Understanding CDCA7's role is important for comprehending normal cell function and potential implications in conditions where cell division is dysregulated.
What the gene does
The protein produced from the CDCA7 gene participates in the regulation of cell division. While its exact mechanisms are still being researched, it is understood to have a role in guiding cell cycle progression. The protein interacts with other cellular components to manage the phases of cell growth and replication. Its involvement suggests a regulatory function in how cells multiply throughout the body.
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Chromosome location
The CDCA7 gene is situated on chromosome 2 at position 2q31.1. This specific genomic location places it within a region that is home to numerous genes vital for human development and health. The gene's exact position on the chromosome contributes to its expression patterns and potential interactions with neighbouring genetic material.
Protein structure
The CDCA7 protein is composed of 371 amino acids and features several distinct functional regions. It contains two Disordered regions, located at amino acid positions 60-110 and 140-188, suggesting flexibility crucial for protein interactions. An Interaction with MYC region is found between amino acids 146-170, highlighting its potential role in gene transcription regulation. A Nuclear localization signal motif spanning amino acids 160-176 directs the protein to the cell's nucleus. Additionally, a Hemimethylation-sensing zinc finger (HMZF) domain is present from amino acids 264-371, which likely plays a part in DNA recognition or epigenetic regulation.
Key variants
Genetic variations within the CDCA7 gene can include changes in its DNA sequence. These variants may alter the structure or function of the CDCA7 protein, potentially affecting its role in cell division and regulation. The impact of such variants can differ significantly depending on their specific location and nature within the gene, and their individual clinical significance requires careful evaluation.
No pathogenic or likely-pathogenic ClinVar variants recorded yet for this gene.
Associated conditions
Currently, there are no specific inherited conditions or diseases definitively associated with variants in the CDCA7 gene that are part of standard clinical genetic testing panels. Research continues to explore the broader involvement of CDCA7 in health and disease, particularly in processes related to cell proliferation, but its exact pathological role, if any, is yet to be fully elucidated.
No disease links recorded for this gene in our reference set.
UK clinical status
The CDCA7 gene is considered within the NHS Genomic Medicine Service due to its inclusion on certain diagnostic panels. It is listed as green on the COVID-19 research panel and the Primary immunodeficiency or monogenic inflammatory bowel disease panel (R15), indicating that it is routinely assessed for its relevance in these contexts within the UK.
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What does the CDCA7 gene do?
The CDCA7 gene provides instructions for creating a protein that is involved in regulating cell division and proliferation processes within the body. It helps manage how cells grow and multiply.
Where is the CDCA7 gene located?
The CDCA7 gene is found on chromosome 2, specifically at band 2q31.1. This location is part of a larger region containing many genes important for human biological functions.
Are there conditions associated with variations in the CDCA7 gene?
Currently, no specific inherited conditions or diseases are officially confirmed as being directly caused by variants in the CDCA7 gene. Research is ongoing to understand its full biological significance.