List of chromosomes

Chromosome 2

Chromosome 2 Chromosome 2
73.8%
96.6%
56.1
22.7
13.3
21.3

The colossus of proteins

Our proteins come in very different sizes. Chromosome 2 carries the gene which codes for the largest protein, known as titin.

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Movements

ACTR3: Gene coding for an actin, a protein involved in cell motility… but also in DNA repair by promoting motility of damaged DNA.

Altitude

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.

To hear or not to hear

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.

Anti-COVID19 target?

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.

hair

EDAR: Gene involved in hair formation.

Movements

ACTR2: Gene coding for an actin, a protein involved in cell motility… but also in DNA repair by promoting motility of damaged DNA.

the chosen one

ASTL: One of this gene’s roles is to prevent an egg from being fertilized by more than one sperm.

an inbuilt timekeeper

PER2: This gene is involved in our daily biological rhythms.

shiver

TRPM8: This gene is involved in the perception of cold.

on a whim

HTR2B: This gene is associated with impulsive behaviour. This gene codes for one of the LSD receptor.

palpitations

DES: This gene is involved in our heartbeat.

mister muscle

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.

painless

SCN9A: This gene is involved in the perception of pain.

becoming stone

ACVR1: This gene is associated with the Stone Man Syndrome.

the origin of flatulence

LCT: This gene codes for a protein that digests lactose.

left hand or right hand?

LRRTM1: This gene is involved in right-handedness versus left-handedness.

halt!

RTN4: This gene is involved in blocking neuron regeneration.

calcium sensitive

CALM2: 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.

highway designer

SPAST: This gene is involved in neuron path development and associated with a severe form of paraplegia.

boy or girl?

SRD5A2: This gene is involved in sexual differentiation.

remembering to forget

PPP1CB: This gene is involved in memory and forgetfulness.

our body’s timekeeper

PER3: This gene is involved in our daily biological rhythms. Variations in this gene are linked with our vulnerability to sleep deprivation

necessary forgetfulness

PPP1CB: This gene is involved in the faculty to learn but also to forget, so that our memory never overloads.

CHROMOSOME WALK