Our proteins come in very different sizes. Chromosome 2 carries the gene which codes for the largest protein, known as titin.
ACTR3: Gene coding for an actin, a protein involved in cell motility… but also in DNA repair by promoting motility of damaged DNA.
EPAS1: gene coding for a protein that regulates the response to oxygen deprivation (hypoxia) and adaptation to altitude. Genetic variations of this gene in Tibetan individuals, inherited from Denisovans, could facilitate their adaptation to high-altitude environments.
Corresponding protein in UniProtKB/Swiss-Prot
Publication: The history and evolution of the Denisovan-EPAS1 haplotype in Tibetans
OTOF: gene coding for otoferlin, a protein essential for the hair cells of the inner ear to convert sound vibrations into chemical signals transmitted to the brain. Mutations in this gene are responsible for 1 to 8% of cases of congenital deafness. In 2023, a young deaf boy regained his hearing thanks to a gene therapy involving the introduction into his inner ear of a virus carrying functional copies of this gene.
PIKFYVE: Gene coding for a protein required for cell entry of coronaviruses SARS-CoV and SARS-CoV-2. This protein is the target of potential anti-COVID19 drugs.
EDAR: Gene involved in hair formation.
ACTR2: Gene coding for an actin, a protein involved in cell motility… but also in DNA repair by promoting motility of damaged DNA.
ASTL: One of this gene’s roles is to prevent an egg from being fertilized by more than one sperm.
PER2: This gene is involved in our daily biological rhythms.
Prolune - article: An inbuilt timekeeper
Corresponding protein in UniProtKB/Swiss-ProtTRPM8: This gene is involved in the perception of cold.
HTR2B: This gene is associated with impulsive behaviour. This gene codes for one of the LSD receptor.
Protein Spotlight: On the spur of a whim
Corresponding protein in UniProtKB/Swiss-ProtDES: This gene is involved in our heartbeat.
MSTN: This gene codes for the myostatin protein which is involved in muscle development. A German boy, nicknamed ‘Popeye’, was born with a non-functional myostatin protein; at the age of 7 months his muscles were already twice as big as those of other children his age.
Publication: Myostatin mutation associated with gross muscle hypertrophy in a child.
Corresponding protein in UniProtKB/Swiss-ProtSCN9A: This gene is involved in the perception of pain.
Prolune - snapshot: Sodium channel protein type 9 subunit alpha
Protein Spotlight : Silent pain
Protein Spotlight - comics : Silent pain
Corresponding protein in UniProtKB/Swiss-Prot
ACVR1: This gene is associated with the Stone Man Syndrome.
LCT: This gene codes for a protein that digests lactose.
Prolune - article: On the origin of flatulence
Prolune - snapshot: Lactase
Corresponding protein in UniProtKB/Swiss-ProtLRRTM1: This gene is involved in right-handedness versus left-handedness.
RTN4: This gene is involved in blocking neuron regeneration.
Protein Spotlight: Nerve regrowth: nipped by a no-go
Corresponding protein in UniProtKB/Swiss-ProtCALM2: This gene codes for the calmodulin protein which senses changes in calcium concentration and transmits the information to other proteins. CALM2 is involved in the embryonic development of craniofacial structures.
Prolune - snapshot: Calmodulin
Protein music (in French): Calmoduline
Corresponding protein in UniProtKB/Swiss-ProtSPAST: This gene is involved in neuron path development and associated with a severe form of paraplegia.
Protein Spotlight: The making of crooked
Corresponding protein in UniProtKB/Swiss-ProtSRD5A2: This gene is involved in sexual differentiation.
Prolune - article: ♂ or ♀, that is the question
Corresponding protein in UniProtKB/Swiss-ProtChromosomes XY: Male or female… all about an angle
PPP1CB: This gene is involved in memory and forgetfulness.
Prolune - article: PP1: Tracking down the protein of Forgetfulness
Protein Spotlight: The things we forget
Corresponding protein in UniProtKB/Swiss-ProtPER3: This gene is involved in our daily biological rhythms. Variations in this gene are linked with our vulnerability to sleep deprivation
Prolune - article: An inbuilt timekeeper
Corresponding protein in UniProtKB/Swiss-ProtPPP1CB: This gene is involved in the faculty to learn but also to forget, so that our memory never overloads.
Prolune - article: PP1: Tracking down the protein of Forgetfulness
Protein Spotlight: The things we forget
Corresponding protein in UniProtKB/Swiss-Prot