Chromosome 2 (human)

Chromosome 2 (human)

Human chromosome 2 pair after G banding. One is from mother, one is from father.

Chromosome 2 pair in human male karyogram.
Length (bp) 242,193,529 bp
Number of genes 2,787
Type Autosome
Centromere position Submetacentric[1]
RefSeq NC_000002
GenBank CM000664
Map of Chromosome 2
Ideogram of human chromosome 2. Mbp means mega base pair. See locus for other notation.

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 242 million base pairs [2] (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 1,491 genes, including those of the HOXD homeobox gene cluster.[3]


Further information: Chimpanzee genome project

All members of Hominidae except humans, Neanderthals, and Denisovans have 24 pairs of chromosomes.[4] Humans have only 23 pairs of chromosomes. Human chromosome 2 is a result of an end-to-end fusion of two ancestral chromosomes.[5][6]

The evidence for this includes:

According to researcher J. W. IJdo, "We conclude that the locus cloned in cosmids c8.1 and c29B is the relic of an ancient telomere-telomere fusion and marks the point at which two ancestral ape chromosomes fused to give rise to human chromosome 2." [10]


Among the genes located on chromosome 2 are these:

Genes located on the short arm of this chromosome include

Genes located on the long arm of this chromosome include

The following diseases and traits are related to genes located on chromosome 2:


  1. "Table 2.3: Human chromosome groups". Human Molecular Genetics (2nd ed.). Garland Science. 1999.
  2. Hillier; et al. (2005). "Generation and annotation of the DNAD sequences of human chromosomes 2 and 4". Nature. 434 (7034): 724–31. Bibcode:2005Natur.434..724H. doi:10.1038/nature03466. PMID 15815621.
  3. Vega Homo sapiens genome browser: HoxD cluster on Chromosome 2
  4. Meyer M, Kircher M, Gansauge MT, Li H, Racimo F, Mallick S, Schraiber JG, Jay F, Prüfer K, de Filippo C, Sudmant PH, Alkan C, Fu Q, Do R, Rohland N, Tandon A, Siebauer M, Green RE, Bryc K, Briggs AW, Stenzel U, Dabney J, Shendure J, Kitzman J, Hammer MF, Shunkov MV, Derevianko AP, Patterson N, Andrés AM, Eichler EE, Slatkin M, Reich D, Kelso J, Pääbo S; Kircher; Gansauge; Li; Racimo; Mallick; Schraiber; Jay; Prüfer; De Filippo; Sudmant; Alkan; Fu; Do; Rohland; Tandon; Siebauer; Green; Bryc; Briggs; Stenzel; Dabney; Shendure; Kitzman; Hammer; Shunkov; Derevianko; Patterson; Andrés; et al. (October 2012). "A high-coverage genome sequence from an archaic Denisovan individual". Science. 338 (6104): 222–6. Bibcode:2012Sci...338..222M. doi:10.1126/science.1224344. PMC 3617501Freely accessible. PMID 22936568.
  5. It has been hypothesized that Human Chromosome 2 is a fusion of two ancestral chromosomes by Alec MacAndrew; accessed 18 May 2006.
  6. Evidence of Common Ancestry: Human Chromosome 2 (video) 2007
  7. Yunis and Prakash; Prakash, O (1982). "The origin of man: a chromosomal pictorial legacy". Science. 215 (4539): 1525–30. Bibcode:1982Sci...215.1525Y. doi:10.1126/science.7063861. PMID 7063861.
  8. Human and Ape Chromosomes; accessed 8 September 2007.
  9. Avarello; et al. (1992). "Evidence for an ancestral alphoid domain on the long arm of human chromosome 2". Human Genetics. 89 (2): 247–9. doi:10.1007/BF00217134. PMID 1587535.
  10. 1 2 IJdo; et al. (1991). "Origin of human chromosome 2: an ancestral telomere-telomere fusion". Proc. Natl. Acad. Sci. U.S.A. 88 (20): 9051–5. Bibcode:1991PNAS...88.9051I. doi:10.1073/pnas.88.20.9051. PMC 52649Freely accessible. PMID 1924367.
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