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Chromosome 2 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 2 is the second largest human chromosome, spanning more than 237 million base pairs (the building material of DNA) and representing almost 8% of the total DNA in cells.
Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 2 likely contains between 1,300 and 1,800 genes
Evolution
Chromosome 2 is widely accepted to be a result of a fusion of two ancestral chromosomes. The evidence for this is the correspondence of chromosome 2 to two ape chromosomes and the presence of a vestigial centromere and vestigial telomeres. Human Chromosome 2 is a fusion of two ancestral chromosomes by Alec MacAndrew, Accessed 18 May 2006
Genes
The following genes are located on chromosome 2:
- ABCA12: ATP-binding cassette, sub-family A (ABC1), member 12
- AGXT: alanine-glyoxylate aminotransferase (oxalosis I; hyperoxaluria I; glycolicaciduria; serine-pyruvate aminotransferase)
- ALMS1: Alstrom syndrome 1
- ALS2: amyotrophic lateral sclerosis 2 (juvenile)
- BMPR2: bone morphogenetic protein receptor, type II (serine/threonine kinase)
- COL3A1: collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)
- COL4A3: collagen, type IV, alpha 3 (Goodpasture antigen)
- COL4A4: collagen, type IV, alpha 4
- COL5A2: collagen, type V, alpha 2
- HADHA: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit
- HADHB: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit
- MSH2: mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
- MSH6: mutS homolog 6 (E. coli)
- NR4A2: nuclear receptor subfamily 4, group A, member 2
- OTOF: otoferlin
- PAX3: paired box gene 3 (Waardenburg syndrome 1)
- PAX8: paired box gene 8
- SLC40A1: solute carrier family 40 (iron-regulated transporter), member 1
- TPO: thyroid peroxidase
Related diseases
The following diseases are related to genes located on chromosome 2:
- Alport syndrome
- Alström syndrome
- Amyotrophic lateral sclerosis
- Amyotrophic lateral sclerosis, type 2
- Congenital hypothyroidism
- Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome, classical type
- Ehlers-Danlos syndrome, vascular type
- Harlequin ichthyosis
- Hemochromatosis
- Hemochromatosis, type 4
- Hereditary nonpolyposis colorectal cancer
- Infantile-onset ascending hereditary spastic paralysis
- Juvenile primary lateral sclerosis
- Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
- Maturity onset diabetes of the young type 6
- Mitochondrial trifunctional protein deficiency
- Nonsyndromic deafness
- Nonsyndromic deafness, autosomal recessive
- Primary hyperoxaluria
- Primary pulmonary hypertension
- Waardenburg syndrome
See also
References
Chromosome 2 humain | Humán 2-es kromoszóma | Cromossoma 2 (humano) | Хромозом 2 (човек)
"Chromosome 2 (human)"