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The names of genes can look pretty strange or at best curious. Sometimes they look like abbreviations, acronyms, and sometimes they look like real words. The gene names you see in genetics laboratory reports or on websites are in fact acronyms for the full gene name. These names are actually assigned by an international committee of the Human Genome Organization (HUGO). They require that each human gene has a unique, uppercase italicized symbol (e.g., USP14) and a descriptive name. How they get those names and their official acronym can take different paths.
Many human genes were first described in fruit flies or zebrafish and later discovered to have a counterpart in humans. Geneticists studying these model organisms can have a unique sense of humor thus creating comical names. The names they sometimes came up with can sound pretty irreverent when later discovered to be relevant to human disease. But that is really the fun of it; to appreciate how scientific discoveries are made and honoring the work, maybe in a fruit fly, that led to the identification and functional characterization of an important gene in humans. But it is also why sometimes it is best to focus on the official acronym and not dwell on the words behind it.
Here is one example, the SHH gene acronym stands for Sonic Hedgehog. When it was first described in fruit flies a deletion of the gene caused the fly larvae to look spiky. Hence, the name sonic hedgehog. In humans, the SHH gene (on chromosome 7) can cause the brain to fail to split into two halves when there is a deletion of the gene, a condition called holoprosencephaly. In this case, the gene name is not related to the name of the associated human condition.
Then there is the gene that when mutated in zebrafish make them have pointy ears. You can probably guess the name of that gene, SPOCK1 (on chromosome 5). In humans this gene is thought to cause developmental delay but not pointy ears. However, a gene name that is a word or resembles word makes it easier to remember as opposed to a seemingly random group of letters and numbers such as SMAD4.
A chromosome 18 example of a creative name is SMAD4. SMAD4 stands for Suppressor of Mothers Against Decapentaplegia. Translated, decapenta means fifteen and plegia means paralysis. SMAD4 in the fruit fly acts to prevent decapentaplegia. But in humans a deletion of this gene can contribute to a colonic polyp syndrome, a gene very few people have deleted.
Sometimes the process of gene discovery is the opposite from the gene being described first followed by characterization of the human condition. In some cases, a well-described human condition such as Huntington Disease inspired the search for the causative gene. When the gene is discovered, it is named for the condition, as in this case, the Huntingtin (HTT) gene.
Then there are the near misses like the DCC gene on chromosome 18. DCC stands for deleted in colon cancer, except that it isn’t. It is the gene next door (SMAD4) that can contribute one of the many genetic defects leading to the development of colon cancer.
Most genes, however, have more boring names that actually describe their function. That is the case with SMCHD1, also on chromosome 18. Its full name is Structural Maintenance of Chromosomes Flexible Hinge Domain Containing 1, hence the acronym SMCHD1. The name means something to molecular biologists but gives no hint as the resulting condition when mutated, deleted or duplicated.
Genes can also be a part of gene family. The gene family designation is based on the characteristics of the protein for which they are the instructions for. Members of the same gene family may or may not be used in the same type of tissues of the body and may be important at different times during development. This means that members of the same gene family can contribute to entirely difference conditions. For example, there are numerous genes whose acronym begins with the gene family name ZNF followed by a number. Another large gene family starts with SLC followed by numbers and letters. Should you hear about a disease-causing gene whose acronym name is similar to but not exactly the same name as one on chromosome 18, there is no reason to suspect that the similar gene on chromosome 18 has any causal relationship to the one that causes disease.
What is in a name? It is apparent that a gene name most often provides no clue as to its impact or importance in the body or what the outcome might be of a gene mutation, duplication or deletion.
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