Chromosome 2 (human)

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Human chromosome idiogram 2
Fluorescence-labeled DNA of human chromosome 2 (right, colored green) and, in comparison, the DNA of an orangutan (left). While in humans only the two copies of chromosome 2 are colored, in the orangutan the copies of the two original chromosomes are marked. The remaining chromosomes are colored red. The human chromosome 2 is made up of parts that are in the. Apes are distributed more on two chromosomes. The fusion took place after the evolutionary lines were divided into humans and chimpanzees (4.6 to 6.2 million years ago). The fusion point is at 2q13-14.

Chromosome 2 is one of 23 chromosomes pairs of people . Usually a person has two largely identical copies of this chromosome in most of his cells . It is the second largest chromosome in humans.

Chromosome 2 is unique to human ancestry as it is the result of a head-to-head fusion of two medium-sized ancestral chromosomes, as found in all great apes today. Great apes have 24 pairs of chromosomes.

Decoding the chromosome 2

Chromosome 2 consists of approximately 243 million base pairs . A base pair is the smallest unit of information in DNA . Chromosome 2 contains approximately 8% of the total DNA of a human cell . Identifying the genes on this chromosome is part of an ongoing process of deciphering the human genome. There are between 1300 and 1900 genes on chromosome 2. After the first sequencing in April 2005, 1346 protein-coding genes and 1239 pseudo-genes were found. Pseudo-genes are no longer functional ("switched off") genes.

Known genes on chromosome 2

Chromosome 2 contains the following genes, among others:

Medical importance

The 46 human chromosomes.

Due to its size and the high number of known genes, the genes on chromosome 2 are associated with many genetic or predisposed diseases . These are among others:

Individual evidence

  1. a b L. W. Hillier u. a., Generation and annotation of the DNA sequences of human chromosomes 2 and 4. In: Nature , 434/2005, pp. 724-31, PMID 15815621
  2. Alec MacAndrew: Human Chromosome 2 is a fusion of two ancestral chromosomes . Retrieved November 14, 2015.
  3. Genetics Home Reference, Chromosome 2 , as of February 29, 2008
  4. JV Tricoli et al.: The gene for human transforming growth factor alpha is on the short arm of chromosome 2. In: Cytogenetic Cell Genet 42, 1986, pp. 94-98. PMID 3459638
  5. C. Franck include: LRRTM1 on chromosome 2p12 is a maternally suppressed gene did is associated paternally with handedness and schizophrenia. In: Molecular Psychiatry 12, 2007, pp. 1129-1139. doi: 10.1038 /
  6. National Center for Biotechnology: Genome Data Viewer (GDV ) placement of LHCGR gene on chromosome 2 (English)
  7. National Center for Biotechnology: Genome Data Viewer (GDV ): LHCGR luteinizing hormone / choriogonadotropin receptor / Homo sapiens (human) further information on the LHCGR gene (English)
  8. Genetics Home Reference, Conditions related to genes on chromosome 2. , as of February 29, 2008
  9. ^ Lampe AK et al .: Collagen VI related muscle disorders . J Med Genet. 2005 Sep; 42 (9): 673-85. PMID 16141002 .


  • AK Coskun u. a., Human chromosome 2 carries a gene required for production of infectious human immunodeficiency virus type 1. In: Journal of Virology , 80/2006, pp. 3406-15, PMID 16537608

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