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Chromosome 12

From Wikipedia, the free encyclopedia
Chromosome 12
Human chromosome 12 pair afterG-banding.
One is from mother, one is from father.
Chromosome 12 pair
in human malekaryogram.
Features
Length (bp)133,324,548 bp
(CHM13)
No.of genes988 (CCDS)[1]
TypeAutosome
Centromere positionSubmetacentric[2]
(35.5 Mbp[3])
Complete gene lists
CCDSGene list
HGNCGene list
UniProtGene list
NCBIGene list
External map viewers
EnsemblChromosome 12
EntrezChromosome 12
NCBIChromosome 12
UCSCChromosome 12
Full DNA sequences
RefSeqNC_000012(FASTA)
GenBankCM000674(FASTA)

Chromosome 12is one of the 23 pairs ofchromosomesinhumans.People normally have two copies of this chromosome. Chromosome 12 spans about 133 millionbase pairs(the building material ofDNA) and represents between 4 and 4.5 percent of the total DNA incells.

Chromosome 12 contains theHomeoboxC gene cluster.

Genes[edit]

Number of genes[edit]

The following are some of the gene count estimates of human chromosome 12. Because researchers use different approaches togenome annotationtheir predictions of thenumber of geneson each chromosome varies (for technical details, seegene 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.[4]

Estimated by Protein-coding genes Non-coding RNA genes Pseudogenes Source Release date
CCDS 988 — — [1] 2016-09-08
HGNC 995 318 545 [5] 2017-05-12
Ensembl 1,033 1,202 617 [6] 2017-03-29
UniProt 1,032 — — [7] 2018-02-28
NCBI 1,036 853 693 [8][9][10] 2017-05-19

Gene list[edit]

See also:Category:Genes on human chromosome 12

The following is a partial list of genes on human chromosome 12. For complete list, see the link in the infobox on the right.

  • ACAD10:encodingproteinAcyl-CoA dehydrogenase family, member 10
  • ACSS3:encodingproteinAcyl-CoA synthetase short-chain family member 3
  • ACVRL1:activin A receptor type II-like 1f
  • ANKRD33:encodingproteinAnkyrin repeat domain 33
  • APOF:encodingproteinApolipoprotein F
  • APOLD1:apolipoprotein L domain containing 1
  • ARL6IP4:encodingproteinADP-ribosylation-like factor 6 interacting protein 4
  • ARPC3:encodingproteinActin-related protein 2/3 complex subunit 3
  • Asun:encodingproteinProtein asunder homolog (Asun)
  • ATP2B1-AS1:encoding protein Atp2b1 antisense rna 1
  • ATG101:Autophagy-related protein 101
  • BCAT1:encodingproteinBranched chain amino acid transaminase 1
  • C12orf24:encoding protein FAM216A
  • C12orf42:encodingproteinuncharacterised chromosome 12 open reading frame 42
  • C12orf43:encoding protein. Uncharacterized.
  • C12orf60:encodingproteinUncharacterized protein C12orf60
  • CALCOCO1:Calcium-binding and coiled-coil domain-containing protein 1
  • CBX5:chromobox homolog 5
  • CCDC53:Coiled-coil domain-containing protein 53
  • CKAP4:Cytoskeleton associated protein 4
  • CNOT2:encodingproteinCCR4-NOT transcription complex subunit 2
  • CNPY2:encodingproteinCanopy FGF signaling regulator 2
  • CCDC42B:encodingproteinCoiled Coil Domain Containing protein 42B
  • COL2A1:collagen, type II, Alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)
  • CRACR2A:encodingproteinCalcium release activated channel regulator 2A
  • CSRP2:Cysteine and glycine-rich protein 2
  • DDX23:DEAD-box helicase 23
  • DDX47:DEAD-box helicase 47
  • DHH:Desert hedgehog protein
  • DPPA3:Developmental pluripotency-associated protein 3
  • DPY19L2:encodingproteinDpy-19-like 2 (C. elegans)
  • E2F7:E2F transcription factor 7
  • EMP1:Epithelial membrane protein 1
  • ERGIC2:encodingproteina protein of 377 amino acid residues
  • FAM60A: encodingproteinFAM60A
  • FAM186B:encodingproteinProtein FAM186B
  • GABARAPL1:encoding protein Gaba type a receptor associated protein like 1
  • GPD1:encodingproteinGlycerol-3-phosphate dehydrogenase 1
  • GOLT1B:Golgi transport 1B
  • GPN3:encodingenzymeGPN-loop GTPase 3
  • HNF1A-AS1:encodingproteinHNF1A antisense RNA 1
  • HPD:4-hydroxyphenylpyruvate dioxygenase
  • IFFO1:encodingproteinIntermediate filament family orphan 1
  • KANSL2:encodingproteinKAT8 regulatory NSL complex subunit 2 (KANSL2)
  • KCNA1:potassium voltage-gated channel subfamily A member 1 at 12p13.32
  • KDM2B:encodingproteinLysine (K)-specific demethylase 2B
  • KERA:keratocan
  • KRAS:V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
  • LARP4:encodingproteinLa-related protein 4
  • LEPREL2:encodingenzymeProlyl 3-hydroxylase 3
  • LMBR1L:encodingproteinProtein LMBR1L
  • LRRC23:encodingproteinLeucine-rich repeat-containing protein 23
  • LRRIQ1:encodingproteinLeucine-rich repeats and IQ motif containing 1
  • LRRK2:leucine-rich repeat kinase 2
  • MBOAT5:encodingenzymeLysophospholipid acyltransferase 5
  • METTL1:encodingenzymetRNA (guanine-N(7)-)-methyltransferase
  • MFAP5:encodingproteinMicrofibrillar-associated protein 5
  • MIR196A2:encodingmicroRNAMicroRNA 196a-2
  • MMAB:methylmalonic aciduria (cobalamin deficiency) cblB type
  • MON2:encodingproteinProtein MON2 homolog
  • MUCL1:encodingproteinMucin-like protein 1
  • MYO1A:myosin IA
  • NANOG:NK-2 type homeodomain gene
  • NAP1L1:encodingproteinNucleosome assembly protein 1-like 1
  • NRIP2:encodingproteinNuclear receptor-interacting protein 2
  • NUDT4:encodingenzymeDiphosphoinositol polyphosphate phosphohydrolase 2
  • PAH:phenylalanine hydroxylase
  • PIP4K2C:encodingproteinPhosphatidylinositol-5-phosphate 4-kinase, type II, gamma
  • PIWIL1:encodingproteinPiwi-like protein 1
  • PLBD1:encodingproteinPhospholipase B domain containing 1 1
  • POP5:encodingenzymeRibonuclease P/MRP protein subunit POP5
  • PPHLN1:encodingproteinPeriphilin-1
  • PPP1R12A:protein phosphatase 1, regulatory (inhibitor) subungfdit 12A
  • PRB1:encodingproteinBasic salivary proline-rich protein 1
  • PRB3:encodingproteinBasic salivary proline-rich protein 3
  • PRB4:encodingproteinBasic salivary proline-rich protein 4
  • PRH1:encodingproteinSalivary acidic proline-rich phosphoprotein 1/2
  • PRH2:encodingproteinProline-rich protein HaeIII subfamily 2
  • PRMT8:encodingproteinProtein arginine methyltransferase 8
  • PRR4:encodingproteinProline-rich protein 4
  • PTMS:encodingproteinParathymosin
  • PTPN11:protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1)
  • PUS1:encodingenzymetRNA pseudouridine synthase A
  • PUS7L:encodingenzymePseudouridylate synthase 7 homolog-like protein
  • PZP:encodingproteinPregnancy zone protein
  • RAB3IP:encodingproteinRAB3A-interacting protein
  • RASSF8:encodingproteinRas association domain-containing protein 8
  • RASSF9:encodingproteinRas association domain-containing protein 9
  • RERG:encodingproteinRAS-like, estrogen-regulated, growth inhibitor
  • RNF34:encodingenzymeE3 ubiquitin-protein ligase RNF34
  • SARNP:SAP domain-containing ribonucleoprotein
  • Serpina3f:encodingproteinSerine (or cysteine) peptidase inhibitor, clade A, member 3F
  • SHMT2:encoding protein Serine hydroxymethyltransferase 2
  • SLC8B1:solute carrier family 8 member B1
  • TBC1D15:encodingproteinTBC1 domain family member 15
  • TBX3:encodingproteinT-boxtranscription factor3
  • TCHP:encodingproteinTrichoplein keratin filament-binding protein
  • TESPA1:encodingproteinThymocyte expressed, positive selection associated 1
  • THAP2:encodingproteinTHAP domain-containing protein 2
  • TMTC1:encodingproteinTransmembrane and tetratricopeptide repeat containing 1
  • TMEM117:encodingproteinTransmembrane protein 117
  • TRAFD1:encodingproteinTRAF-type zinc finger domain-containing protein 1
  • TSFM:encodingproteinElongation factor Ts, mitochondrial
  • TWF1:twinfilin-1
  • UNQ1887:
  • USP52:encodingenzymePAB-dependent poly(A)-specific ribonuclease subunit 2
  • UTP20:encodingproteinSmall subunit processome component 20 homolog
  • VEZT:encodingproteinVezatin
  • YAF2:encodingproteinYY1-associated factor 2
  • ZCCHC8:encodingproteinZinc finger CCHC domain-containing protein 8
  • ZFC3H1:encodingproteinZinc finger C3H1-type containing
  • ZNF26:encodingproteinZinc finger protein 26
  • ZNF84:encodingproteinZinc finger protein 84
  • ZNF268:encodingproteinZinc finger protein 268
  • ZNF664:encodingproteinZinc finger protein 664

Diseases and disorders[edit]

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

Cytogenetic band[edit]

G-banding ideograms of human chromosome 12
G-banding ideogram of human chromosome 12 in resolution 850 bphs. Band length in this diagram is proportional to base-pair length. This type of ideogram is generally used in genome browsers (e.g.Ensembl,UCSC Genome Browser).
G-banding patterns of human chromosome 12 in three different resolutions (400,[12]550[13]and 850[3]). Band length in this diagram is based on the ideograms from ISCN (2013).[14]This type of ideogram represents actual relative band length observed under a microscope at the different moments during themitotic process.[15]
G-bandsof human chromosome 12 in resolution 850 bphs[3]
Chr. Arm[16] Band[17] ISCN
start[18] 		ISCN
stop[18] 		Basepair
start 		Basepair
stop 		Stain[19] Density
12 p 13.33 0 216 1 3,200,000 gneg
12 p 13.32 216 345 3,200,001 5,300,000 gpos 25
12 p 13.31 345 633 5,300,001 10,000,000 gneg
12 p 13.2 633 806 10,000,001 12,600,000 gpos 75
12 p 13.1 806 921 12,600,001 14,600,000 gneg
12 p 12.3 921 1195 14,600,001 19,800,000 gpos 100
12 p 12.2 1195 1252 19,800,001 21,100,000 gneg
12 p 12.1 1252 1526 21,100,001 26,300,000 gpos 100
12 p 11.23 1526 1655 26,300,001 27,600,000 gneg
12 p 11.22 1655 1785 27,600,001 30,500,000 gpos 50
12 p 11.21 1785 1900 30,500,001 33,200,000 gneg
12 p 11.1 1900 2015 33,200,001 35,500,000 acen
12 q 11 2015 2116 35,500,001 37,800,000 acen
12 q 12 2116 2562 37,800,001 46,000,000 gpos 100
12 q 13.11 2562 2706 46,000,001 48,700,000 gneg
12 q 13.12 2706 2850 48,700,001 51,100,000 gpos 25
12 q 13.13 2850 3210 51,100,001 54,500,000 gneg
12 q 13.2 3210 3383 54,500,001 56,200,000 gpos 25
12 q 13.3 3383 3498 56,200,001 57,700,000 gneg
12 q 14.1 3498 3700 57,700,001 62,700,000 gpos 75
12 q 14.2 3700 3786 62,700,001 64,700,000 gneg
12 q 14.3 3786 3959 64,700,001 67,300,000 gpos 50
12 q 15 3959 4203 67,300,001 71,100,000 gneg
12 q 21.1 4203 4362 71,100,001 75,300,000 gpos 75
12 q 21.2 4362 4549 75,300,001 79,900,000 gneg
12 q 21.31 4549 4837 79,900,001 86,300,000 gpos 100
12 q 21.32 4837 4894 86,300,001 88,600,000 gneg
12 q 21.33 4894 5125 88,600,001 92,200,000 gpos 100
12 q 22 5125 5355 92,200,001 95,800,000 gneg
12 q 23.1 5355 5571 95,800,001 101,200,000 gpos 75
12 q 23.2 5571 5643 101,200,001 103,500,000 gneg
12 q 23.3 5643 5873 103,500,001 108,600,000 gpos 50
12 q 24.11 5873 6104 108,600,001 111,300,000 gneg
12 q 24.12 6104 6219 111,300,001 111,900,000 gpos 25
12 q 24.13 6219 6334 111,900,001 113,900,000 gneg
12 q 24.21 6334 6478 113,900,001 116,400,000 gpos 50
12 q 24.22 6478 6579 116,400,001 117,700,000 gneg
12 q 24.23 6579 6737 117,700,001 120,300,000 gpos 50
12 q 24.31 6737 7083 120,300,001 125,400,000 gneg
12 q 24.32 7083 7255 125,400,001 128,700,000 gpos 50
12 q 24.33 7255 7500 128,700,001 133,275,309 gneg

References[edit]

  1. ^ab"Search results - 12[CHR] AND" Homo sapiens "[Organism] AND (" has ccds "[Properties] AND alive[prop]) - Gene".NCBI.CCDS Release 20 forHomo sapiens.2016-09-08.Retrieved2017-05-28.
  2. ^Tom Strachan; Andrew Read (2 April 2010).Human Molecular Genetics.Garland Science. p. 45.ISBN978-1-136-84407-2.
  3. ^abcGenome Decoration Page, NCBI.Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3).Last update 2014-06-03. Retrieved 2017-04-26.
  4. ^Pertea M, Salzberg SL (2010)."Between a chicken and a grape: estimating the number of human genes".Genome Biol.11(5): 206.doi:10.1186/gb-2010-11-5-206.PMC2898077.PMID20441615.
  5. ^"Statistics & Downloads for chromosome 12".HUGO Gene Nomenclature Committee.2017-05-12.Retrieved2017-05-19.
  6. ^"Chromosome 12: Chromosome summary - Homo sapiens".Ensembl Release 88.2017-03-29.Retrieved2017-05-19.
  7. ^"Human chromosome 12: entries, gene names and cross-references to MIM".UniProt.2018-02-28.Retrieved2018-03-16.
  8. ^"Search results - 12[CHR] AND" Homo sapiens "[Organism] AND (" genetype protein coding "[Properties] AND alive[prop]) - Gene".NCBI.2017-05-19.Retrieved2017-05-20.
  9. ^"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.Retrieved2017-05-20.
  10. ^"Search results - 12[CHR] AND" Homo sapiens "[Organism] AND (" genetype pseudo "[Properties] AND alive[prop]) - Gene".NCBI.2017-05-19.Retrieved2017-05-20.
  11. ^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.PMC1199301.PMID15714404.
  12. ^Genome Decoration Page, NCBI.Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3).Last update 2014-03-04. Retrieved 2017-04-26.
  13. ^Genome Decoration Page, NCBI.Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3).Last update 2015-08-11. Retrieved 2017-04-26.
  14. ^International Standing Committee on Human Cytogenetic Nomenclature (2013).ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013).Karger Medical and Scientific Publishers.ISBN978-3-318-02253-7.
  15. ^Sethakulvichai, W.; Manitpornsut, S.; Wiboonrat, M.; Lilakiatsakun, W.; Assawamakin, A.; Tongsima, S. (2012)."Estimation of band level resolutions of human chromosome images".2012 Ninth International Conference on Computer Science and Software Engineering (JCSSE).pp. 276–282.doi:10.1109/JCSSE.2012.6261965.ISBN978-1-4673-1921-8.S2CID16666470.
  16. ^"p":Short arm;"q":Long arm.
  17. ^For cytogenetic banding nomenclature, see articlelocus.
  18. ^abThese 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.
  19. ^gpos:Region which is positively stained byG banding,generallyAT-richand gene poor;gneg:Region which is negatively stained by G banding, generallyCG-richand gene rich;acenCentromere.var:Variable region;stalk:Stalk.

External links[edit]

Wikimedia Commons has media related toHuman chromosome 12.
  • National Institutes of Health."Chromosome 12".Genetics Home Reference.Archived fromthe originalon 2007-06-12.Retrieved2017-05-06.
  • "Chromosome 12".Human Genome Project Information Archive 1990–2003.Retrieved2017-05-06.
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