Welcome to the first version of Genes beta, a subdatabase carved from the Modern Medical Dictionary Database (MMDD), a curated resource for students, practitioners and scientists in biology, medicine and the health professions. This is the second product to be spun off The Modern Medical Dictionary (MMD) database, which is linked to the website www.newmedicalterms.com.
When the human genome was first sequenced in 2003, no one knew how many genes they’d find. At the time, the best guess-timates put the number at 100,000. As the genomic information was fine tuned, the number has steadily dropped to the current number of 23,000-ish genes. This App includes useful information on a bit over 8,000 of those genes which I’ve come across in my reading of the literature.
In deciding what constitutes “useful information” on a gene, I felt that three blocks of information would be of particularly useful to advanced biomedical consumers. The amount of information on each gene intentionally skates between an anemic offerings in a standard medical dictionary—assuming one could actually find anything about a particular gene—and an exhaustive treatise on a particular gene or gene product found in the Genecards, UniProt and OMIM databases.
I’ll use the BRAF gene as an example of the information you’ll find in most of the Genes in this “App”
The gene on chromosome 7q34 that encodes B-Raf proto-oncogene—serine/threonine kinase (OMIM:164757, UniProtKB:P15056), a protein of the raf/mil family of serine/threonine protein kinases, which play a key role in regulating the MAP kinase/ERKs signalling pathway, affecting cell division, differentiation, and secretion.
Molecular pathology Defects of BRAF cause
• Cardiofaciocutaneous syndrome 1 (OMIM:115150)
• LEOPARD syndrome 3 (OMIM:613707)
• Noonan syndrome 7 (OMIM:613706)
Acquired BRAF mutations have been linked to non-Hodgkin lymphoma, colorectal cancer, melanoma, thyroid carcinoma, non-small cell lung carcinoma, and adenocarcinoma of lung.
Explanation The (above) definition block indicates:
The chromosome on which the gene is found (here, 7q34)
The protein product’s currently preferred name (these often change over time, here, B-Raf proto-oncogene—serine/threonine kinase, which is listed in bold, simply because some of the names are fairly long)
The OMIM* and UniProt† numbers assigned to the protein product (here, OMIM:164757,
Details of interest about the gene product (here, a protein of the
/mil family of serine/threonine protein kinases, which play a key role in regulating the MAP kinase/ERKs
pathway, affecting cell division, differentiation, and secretion). The details are a composite of the information from the Summaries section of the relevant Genecards entry. I’ve found that those sections are not always written in the best English