Chromosome 12 (human)

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Chromosome 12 (human)
Human male karyotpe high resolution - Chromosome 12 cropped.png
Pair of human chromosome 12 (after G-banding).
One is from mother, one is from father.
Human male karyotpe high resolution - Chromosome 12.png
Chromosome 12 pair in human male karyogram.
Length (bp) 133,275,309 bp
Number of genes 1,950
Type Autosome
Centromere position Submetacentric[1]
RefSeq NC_000012
GenBank CM000674
Map of Chromosome 12
Ideogram of human chromosome 12. Mbp means mega base pair. See locus for other notation.

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.

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 12 likely contains between 1,000 and 1,300 genes. It also contains the Homeobox C gene cluster.


The following are some of the genes located on chromosome 12:

  • ACSS3: encoding protein Acyl-CoA synthetase short-chain family member 3
  • ACVRL1: activin A receptor type II-like 1f
  • APOLD1: apolipoprotein L domain containing 1
  • APOF: encoding protein Apolipoprotein F
  • ARPC3: encoding protein Actin-related protein 2/3 complex subunit 3
  • ATG101: Autophagy-related protein 101
  • C12orf42: encoding protein uncharacterised chromosome 12 open reading frame 42
  • CBX5: chromobox homolog 5
  • COL2A1: collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)
  • HPD: 4-hydroxyphenylpyruvate dioxygenase
  • FAM60A: encoding protein FAM60A
  • GPN3: encoding enzyme GPN-loop GTPase 3
  • KCNA1: potassium voltage-gated channel subfamily A member 1 at 12p13.32
  • KERA: keratocan
  • KRAS: V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
  • LRRK2: leucine-rich repeat kinase 2
  • MMAB: methylmalonic aciduria (cobalamin deficiency) cblB type
  • MYO1A: myosin IA
  • NANOG: NK-2 type homeodomain gene
  • PAH: phenylalanine hydroxylase
  • PPP1R12A: protein phosphatase 1, regulatory (inhibitor) subungfdit 12A
  • PTPN11: protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1)

Diseases and disorders[edit]

The following diseases are some of those related to genes on chromosome 12:


  1. ^ "Table 2.3: Human chromosome groups". Human Molecular Genetics (2nd ed.). Garland Science. 1999. 
  2. ^ Riaz N; Steinberg S; Ahmad J; et al. (April 2005). "Genomewide significant linkage to stuttering on chromosome 12". Am. J. Hum. Genet. 76 (4): 647–51. doi:10.1086/429226. PMC 1199301free to read. PMID 15714404. 
  • Gilbert F, Kauff N (2000). "Disease genes and chromosomes: disease maps of the human genome.Chromosome 12". Genet Test. 4 (3): 319–33. doi:10.1089/10906570050501588. PMID 11142767. 
  • Montgomery KT, Lee E, Miller A, Lau S, Shim C, Decker J, Chiu D, Emerling S, Sekhon M, Kim R, Lenz J, Han J, Ioshikhes I, Renault B, Marondel I, Yoon SJ, Song K, Murty VV, Scherer S, Yonescu R, Kirsch IR, Ried T, McPherson J, Gibbs R, Kucherlapati R (2001). "A high-resolution map of human chromosome 12". Nature. 409 (6822): 945–6. doi:10.1038/35057174. PMID 11237017.