Chromosome 12
Chromosome 12 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 12 spans about 133 million base pairs and represents between 4 and 4.5 percent of the total DNA in cells.
Chromosome 12 contains the Homeobox C gene cluster.
Genes
Number of genes
The following are some of the gene count estimates of human chromosome 12. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies. 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 | 988 | — | — | 2016-09-08 | |
| HUGO [Gene Nomenclature Committee|HGNC] | 995 | 318 | 545 | 2017-05-12 | |
| Ensembl | 1,033 | 1,202 | 617 | 2017-03-29 | |
| UniProt | 1,032 | — | — | 2018-02-28 | |
| NCBI | 1,036 | 853 | 693 | 2017-05-19 |
Gene list
The following is a partial list of genes on human chromosome 12. For complete list, see the link in the infobox on the right.Diseases and disorders
The following diseases are some of those related to genes on chromosome 12:- achondrogenesis type 2
- bipolar disorder
- collagenopathy, types II and XI
- cornea plana 2
- episodic ataxia
- hereditary hemorrhagic telangiectasia
- hypochondrogenesis
- ichthyosis bullosa of Siemens
- Kniest dysplasia
- Kabuki syndrome
- maturity onset diabetes of the young type 3
- methylmalonic acidemia
- narcolepsy
- nonsyndromic deafness
- Noonan syndrome
- Parkinson disease
- Pallister-Killian syndrome
- phenylketonuria
- schizophrenia
- spondyloepimetaphyseal dysplasia, Strudwick type
- spondyloepiphyseal dysplasia congenita
- spondyloperipheral dysplasia
- Stickler syndrome,
- Stuttering
- Triose Phosphate Isomerase deficiency
- tyrosinemia
- Von Willebrand Disease
Cytogenetic band
| Chr. | Arm | Band | ISCN start | ISCN stop | Basepair start | Basepair stop | Stain | Density |
| 12 | p | 13.33 | 0 | 216 | gneg | |||
| 12 | p | 13.32 | 216 | 345 | gpos | 25 | ||
| 12 | p | 13.31 | 345 | 633 | gneg | |||
| 12 | p | 13.2 | 633 | 806 | gpos | 75 | ||
| 12 | p | 13.1 | 806 | 921 | gneg | |||
| 12 | p | 12.3 | 921 | 1195 | gpos | 100 | ||
| 12 | p | 12.2 | 1195 | 1252 | gneg | |||
| 12 | p | 12.1 | 1252 | 1526 | gpos | 100 | ||
| 12 | p | 11.23 | 1526 | 1655 | gneg | |||
| 12 | p | 11.22 | 1655 | 1785 | gpos | 50 | ||
| 12 | p | 11.21 | 1785 | 1900 | gneg | |||
| 12 | p | 11.1 | 1900 | 2015 | acen | |||
| 12 | q | 11 | 2015 | 2116 | acen | |||
| 12 | q | 12 | 2116 | 2562 | gpos | 100 | ||
| 12 | q | 13.11 | 2562 | 2706 | gneg | |||
| 12 | q | 13.12 | 2706 | 2850 | gpos | 25 | ||
| 12 | q | 13.13 | 2850 | 3210 | gneg | |||
| 12 | q | 13.2 | 3210 | 3383 | gpos | 25 | ||
| 12 | q | 13.3 | 3383 | 3498 | gneg | |||
| 12 | q | 14.1 | 3498 | 3700 | gpos | 75 | ||
| 12 | q | 14.2 | 3700 | 3786 | gneg | |||
| 12 | q | 14.3 | 3786 | 3959 | gpos | 50 | ||
| 12 | q | 15 | 3959 | 4203 | gneg | |||
| 12 | q | 21.1 | 4203 | 4362 | gpos | 75 | ||
| 12 | q | 21.2 | 4362 | 4549 | gneg | |||
| 12 | q | 21.31 | 4549 | 4837 | gpos | 100 | ||
| 12 | q | 21.32 | 4837 | 4894 | gneg | |||
| 12 | q | 21.33 | 4894 | 5125 | gpos | 100 | ||
| 12 | q | 22 | 5125 | 5355 | gneg | |||
| 12 | q | 23.1 | 5355 | 5571 | gpos | 75 | ||
| 12 | q | 23.2 | 5571 | 5643 | gneg | |||
| 12 | q | 23.3 | 5643 | 5873 | gpos | 50 | ||
| 12 | q | 24.11 | 5873 | 6104 | gneg | |||
| 12 | q | 24.12 | 6104 | 6219 | gpos | 25 | ||
| 12 | q | 24.13 | 6219 | 6334 | gneg | |||
| 12 | q | 24.21 | 6334 | 6478 | gpos | 50 | ||
| 12 | q | 24.22 | 6478 | 6579 | gneg | |||
| 12 | q | 24.23 | 6579 | 6737 | gpos | 50 | ||
| 12 | q | 24.31 | 6737 | 7083 | gneg | |||
| 12 | q | 24.32 | 7083 | 7255 | gpos | 50 | ||
| 12 | q | 24.33 | 7255 | 7500 | gneg |