Chromosome 12 Explained

Length Bp:	133,324,548 bp (CHM13)
Genes:	988 (CCDS)
Type:	Autosome
Centromere Position:	Submetacentric^[1] (35.5 Mbp^[2])
Chr:	12
Ensembl Id:	12
Entrez Id:	12
Ncbi Id:	12
Ucsc Id:	12
Refseq Id:	NC_000012
Genbank Id:	CM000674

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.^[3]

Estimated by	Protein-coding genes	Non-coding RNA genes	Pseudogenes	Source	Release date
	988	—	—	^[4]	2016-09-08
HGNC	995	318	545	^[5]	2017-05-12
	1,033	1,202	617	^[6]	2017-03-29
	1,032	—	—	^[7]	2018-02-28
	1,036	853	693	^[8] ^[9] ^[10]	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^[11]
• Triose Phosphate Isomerase deficiency
• tyrosinemia
• Von Willebrand Disease

Cytogenetic band

G-bands of human chromosome 12 in resolution 850 bphs! Chr. ! Arm^[12] ! Band^[13] ! ISCN
start^[14] ! ISCN
stop! Basepair
start ! Basepair
stop ! Stain^[15] ! 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

• Gilbert F, Kauff N . Disease genes and chromosomes: disease maps of the human genome.Chromosome 12 . Genet Test . 2000 . 319–33 . 4 . 3 . 11142767 . 10.1089/10906570050501588.
• 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 . A high-resolution map of human chromosome 12 . Nature . 2001 . 945–6 . 409 . 6822 . 11237017 . 10.1038/35057174. 2001Natur.409..945M . free .

External links

• Web site: National Institutes of Health . Chromosome 12 . Genetics Home Reference . 2017-05-06 . 2007-06-12 . https://web.archive.org/web/20070612000656/http://ghr.nlm.nih.gov/chromosome=12 . dead .
• Web site: Chromosome 12. Human Genome Project Information Archive 1990–2003. 2017-05-06.

Notes and References

1. Book: Tom Strachan. Andrew Read. Human Molecular Genetics. 2 April 2010. Garland Science. 978-1-136-84407-2. 45.
2. Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
3. Pertea M, Salzberg SL. Between a chicken and a grape: estimating the number of human genes. . Genome Biol . 2010 . 11 . 5 . 206 . 20441615 . 10.1186/gb-2010-11-5-206 . 2898077 . free .
4. Web site: Search results - 12[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene . NCBI . CCDS Release 20 for Homo sapiens . 2016-09-08 . 2017-05-28.
5. Web site: Statistics & Downloads for chromosome 12 . HUGO Gene Nomenclature Committee . 2017-05-12 . 2017-05-19.
6. Web site: Chromosome 12: Chromosome summary - Homo sapiens . Ensembl Release 88 . 2017-03-29 . 2017-05-19.
7. Web site: Human chromosome 12: entries, gene names and cross-references to MIM . UniProt . 2018-02-28 . 2018-03-16.
8. Web site: Search results - 12[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene . NCBI . 2017-05-19 . 2017-05-20.
9. Web site: Search results - 12[CHR] AND "Homo sapiens"[Organism] AND (("genetype miscrna"[Properties] OR "genetype ncrna"[Properties] OR "genetype rrna"[Properties] OR "genetype trna"[Properties] OR "genetype scrna"[Properties] OR "genetype snrna"[Properties] OR "genetype snorna"[Properties]) NOT "genetype protein coding"[Properties] AND alive[prop]) - Gene . NCBI . 2017-05-19 . 2017-05-20.
10. Web site: Search results - 12[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene . NCBI . 2017-05-19 . 2017-05-20.
11. Riaz N . Genomewide significant linkage to stuttering on chromosome 12 . Am. J. Hum. Genet. . 76 . 4 . 647–51 . April 2005 . 15714404 . 1199301 . 10.1086/429226 . Steinberg S . Ahmad J . 3 . Pluzhnikov . Anna . Riazuddin . Sheikh . Cox . Nancy J . Drayna . Dennis.
12. "p": Short arm; "q": Long arm.
13. For cytogenetic banding nomenclature, see article locus.
14. These 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.
15. gpos: 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.