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 (the building material of DNA) 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 (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project (CCDS) 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 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 (tetrasomy 12p) phenylketonuria schizophrenia spondyloepimetaphyseal dysplasia, Strudwick type spondyloepiphyseal dysplasia congenita spondyloperipheral dysplasia Stickler syndrome, (COL2A1-related) Stuttering Triose Phosphate Isomerase deficiency tyrosinemia Von Willebrand Disease
Cytogenetic band
+ G-bands of human chromosome 12 in resolution 850 bphs Chr. Arm"p": Short arm; "q": Long arm. BandFor cytogenetic banding nomenclature, see article locus. ISCNstartThese values (ISCN start/stop) are based on the length of bands/ideograms from the ISCN book, An International System for Human Cytogenetic Nomenclature (2013). Arbitrary unit. ISCNstop Basepairstart Basepairstop Staingpos: Region which is positively stained by G banding, generally AT-rich and gene poor; gneg: Region which is negatively stained by G banding, generally CG-rich and gene rich; acen Centromere. var: Variable region; stalk: Stalk. 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
References
External links