Chromosome 2
Chromosome 2 is one of the twenty-three pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 2 is the second-largest human chromosome, spanning more than 242 million base pairs and representing almost eight percent of the total DNA in human cells.
Chromosome 2 contains the HOXD homeobox gene cluster.
Evolution
Humans have only twenty-three pairs of chromosomes, while all other extant members of Hominidae have twenty-four pairs. Human chromosome 2 is a result of an end-to-end fusion of two ancestral chromosomes.The evidence for this includes:
- The correspondence of chromosome 2 to two ape chromosomes. The closest human relative, the chimpanzee, has nearly identical DNA sequences to human chromosome 2, but they are found in two separate chromosomes. The same is true of the more distant gorilla and orangutan.
- The presence of a vestigial centromere. Normally a chromosome has just one centromere, but in chromosome 2 there are remnants of a second centromere in the q21.3–q22.1 region.
- The presence of vestigial telomeres. These are normally found only at the ends of a chromosome, but in chromosome 2 there are additional telomere sequences in the q13 band, far from either end of the chromosome.
Genes
Number of genes
The following are some of the gene count estimates of human chromosome 2. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome vary. Among various projects, the collaborative consensus coding sequence project takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.Estimated by | Protein-coding genes | Non-coding RNA genes | Pseudogenes | Source | Release date |
CCDS | 1,194 | — | — | 2016-09-08 | |
HGNC | 1,196 | 450 | 931 | 2017-05-12 | |
Ensembl | 1,292 | 1,598 | 1,029 | 2017-03-29 | |
UniProt | 1,274 | — | — | 2018-02-28 | |
NCBI | 1,281 | 1,446 | 1,207 | 2017-05-19 |
List of genes
The following is a partial list of genes on human chromosome 2. For complete list, see the link in the infobox on the right.p-arm
Partial list of the genes located on p-arm of human chromosome 2:q-arm
Partial list of the genes located on q-arm of human chromosome 2:Related disorders and traits
The following diseases and traits are related to genes located on chromosome 2:- 2p15-16.1 microdeletion syndrome
- Autism
- Alport syndrome
- Alström syndrome
- Amyotrophic lateral sclerosis
- Congenital hypothyroidism
- Crigler-Najjar types I/II
- Dementia with Lewy bodies
- Ehlers–Danlos syndrome
- Ehlers–Danlos syndrome, classical type
- Ehlers–Danlos syndrome, vascular type
- Fibrodysplasia ossificans progressiva
- Gilbert's syndrome
- Harlequin type ichthyosis
- Hemochromatosis
- Hemochromatosis type 4
- Hereditary nonpolyposis colorectal cancer
- Infantile-onset ascending hereditary spastic paralysis
- Juvenile primary lateral sclerosis
- Lactose intolerance
- Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
- Maturity onset diabetes of the young type 6
- Mitochondrial trifunctional protein deficiency
- Nonsyndromic deafness
- Primary hyperoxaluria
- Primary pulmonary hypertension
- Sitosterolemia
- Sensenbrenner syndrome
- Synesthesia
- Waardenburg syndrome
Cytogenetic band
Chr. | Arm | Band | ISCN start | ISCN stop | Basepair start | Basepair stop | Stain | Density |
2 | p | 25.3 | 0 | 388 | gneg | |||
2 | p | 25.2 | 388 | 566 | gpos | 50 | ||
2 | p | 25.1 | 566 | 954 | gneg | |||
2 | p | 24.3 | 954 | 1193 | gpos | 75 | ||
2 | p | 24.2 | 1193 | 1312 | gneg | |||
2 | p | 24.1 | 1312 | 1565 | gpos | 75 | ||
2 | p | 23.3 | 1565 | 1789 | gneg | |||
2 | p | 23.2 | 1789 | 1908 | gpos | 25 | ||
2 | p | 23.1 | 1908 | 2027 | gneg | |||
2 | p | 22.3 | 2027 | 2296 | gpos | 75 | ||
2 | p | 22.2 | 2296 | 2415 | gneg | |||
2 | p | 22.1 | 2415 | 2609 | gpos | 50 | ||
2 | p | 21 | 2609 | 2966 | gneg | |||
2 | p | 16.3 | 2966 | 3220 | gpos | 100 | ||
2 | p | 16.2 | 3220 | 3294 | gneg | |||
2 | p | 16.1 | 3294 | 3548 | gpos | 100 | ||
2 | p | 15 | 3548 | 3757 | gneg | |||
2 | p | 14 | 3757 | 3935 | gpos | 50 | ||
2 | p | 13.3 | 3935 | 4114 | gneg | |||
2 | p | 13.2 | 4114 | 4248 | gpos | 50 | ||
2 | p | 13.1 | 4248 | 4353 | gneg | |||
2 | p | 12 | 4353 | 4860 | gpos | 100 | ||
2 | p | 11.2 | 4860 | 5307 | gneg | |||
2 | p | 11.1 | 5307 | 5545 | acen | |||
2 | q | 11.1 | 5545 | 5724 | acen | |||
2 | q | 11.2 | 5724 | 6022 | gneg | |||
2 | q | 12.1 | 6022 | 6261 | gpos | 50 | ||
2 | q | 12.2 | 6261 | 6395 | gneg | |||
2 | q | 12.3 | 6395 | 6559 | gpos | 25 | ||
2 | q | 13 | 6559 | 6812 | gneg | |||
2 | q | 14.1 | 6812 | 7036 | gpos | 50 | ||
2 | q | 14.2 | 7036 | 7334 | gneg | |||
2 | q | 14.3 | 7334 | 7602 | gpos | 50 | ||
2 | q | 21.1 | 7602 | 7826 | gneg | |||
2 | q | 21.2 | 7826 | 8050 | gpos | 25 | ||
2 | q | 21.3 | 8050 | 8169 | gneg | |||
2 | q | 22.1 | 8169 | 8437 | gpos | 100 | ||
2 | q | 22.2 | 8437 | 8497 | gneg | |||
2 | q | 22.3 | 8497 | 8646 | gpos | 100 | ||
2 | q | 23.1 | 8646 | 8735 | gneg | |||
2 | q | 23.2 | 8735 | 8795 | gpos | 25 | ||
2 | q | 23.3 | 8795 | 9078 | gneg | |||
2 | q | 24.1 | 9078 | 9361 | gpos | 75 | ||
2 | q | 24.2 | 9361 | 9585 | gneg | |||
2 | q | 24.3 | 9585 | 9928 | gpos | 75 | ||
2 | q | 31.1 | 9928 | 10435 | gneg | |||
2 | q | 31.2 | 10435 | 10599 | gpos | 50 | ||
2 | q | 31.3 | 10599 | 10733 | gneg | |||
2 | q | 32.1 | 10733 | 11091 | gpos | 75 | ||
2 | q | 32.2 | 11091 | 11225 | gneg | |||
2 | q | 32.3 | 11225 | 11538 | gpos | 75 | ||
2 | q | 33.1 | 11538 | 11925 | gneg | |||
2 | q | 33.2 | 11925 | 12060 | gpos | 50 | ||
2 | q | 33.3 | 12060 | 12283 | gneg | |||
2 | q | 34 | 12283 | 12641 | gpos | 100 | ||
2 | q | 35 | 12641 | 13014 | gneg | |||
2 | q | 36.1 | 13014 | 13237 | gpos | 75 | ||
2 | q | 36.2 | 13237 | 13297 | gneg | |||
2 | q | 36.3 | 13297 | 13595 | gpos | 100 | ||
2 | q | 37.1 | 13595 | 13893 | gneg | |||
2 | q | 37.2 | 13893 | 13998 | gpos | 50 | ||
2 | q | 37.3 | 13998 | 14400 | gneg |