Chromosome 12 (human)

Chromosome 12 (human)
Pair of human chromosome 12 (after G-banding). One is from mother, one is from father.
Chromosome 12 pair in human male karyogram.
Features
Length (bp)	133,275,309 bp
Number of genes	1,950
Type	Autosome
Centromere position	Submetacentric [1]
Identifiers
RefSeq	NC_000012
GenBank	CM000674

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.

Genes

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
• CBX5: chromobox homolog 5
• COL2A1: collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)
• HPD: 4-hydroxyphenylpyruvate dioxygenase
• 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

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

• achondrogenesis type 2
• 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
• nonsyndromic deafness, autosomal dominant
• Noonan syndrome
• Parkinson disease
• Pallister-Killian syndrome (tetrasomy 12p)
• phenylketonuria
• spondyloepimetaphyseal dysplasia, Strudwick type
• spondyloepiphyseal dysplasia congenita
• spondyloperipheral dysplasia
• Stickler syndrome, (COL2A1-related)
• Stuttering^[2]
• Triose Phosphate Isomerase deficiency
• tyrosinemia
• Von Willebrand Disease

References

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 1199301. 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.