Human chromosome
Chromosome 12 is one of the 23 pairs ofchromosomes inhumans . 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 theHomeobox C gene cluster.
The following are some of the gene count estimates of human chromosome 12. Because researchers use different approaches togenome annotation their predictions of thenumber of genes on 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]
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 : encodingprotein Acyl-CoA dehydrogenase family, member 10ACRBP : encoding protein Acrosin binding proteinACSS3 : encodingprotein Acyl-CoA synthetase short-chain family member 3ACVRL1 : activin A receptor type II-like 1fANKRD33 : encodingprotein Ankyrin repeat domain 33APOF : encodingprotein Apolipoprotein FAPOLD1 : apolipoprotein L domain containing 1ARL6IP4 : encodingprotein ADP-ribosylation-like factor 6 interacting protein 4ARPC3 : encodingprotein Actin-related protein 2/3 complex subunit 3Asun : encodingprotein Protein asunder homolog (Asun)ATP2B1-AS1 : encoding protein Atp2b1 antisense rna 1ATG101 : Autophagy-related protein 101BCAT1 : encodingprotein Branched chain amino acid transaminase 1BIN2 : encoding protein Bridging integrator 2BRAP : encoding protein BRCA1 associated proteinC12orf24 : encoding protein FAM216AC12orf29 : encoding protein C12orf29C12orf42 : encodingprotein uncharacterised chromosome 12 open reading frame 42C12orf43 : encoding protein. Uncharacterized.C12orf60 : encodingprotein Uncharacterized protein C12orf60CALCOCO1 : Calcium-binding and coiled-coil domain-containing protein 1CBX5 : chromobox homolog 5CCDC53 : Coiled-coil domain-containing protein 53CKAP4 : Cytoskeleton associated protein 4CNOT2 : encodingprotein CCR4-NOT transcription complex subunit 2CNPY2 : encodingprotein Canopy FGF signaling regulator 2CCDC42B : encodingprotein Coiled Coil Domain Containing protein 42BCOL2A1 : collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)CRACR2A : encodingprotein Calcium release activated channel regulator 2ACSRP2 : Cysteine and glycine-rich protein 2DDX23 : DEAD-box helicase 23DDX47 : DEAD-box helicase 47DHH : Desert hedgehog proteinDNAI7 : encoding protein Dynein axonemal intermediate chain 7DPPA3 : Developmental pluripotency-associated protein 3DPY19L2 : encodingprotein Dpy-19-like 2 (C. elegans)DTX3 : encoding protein Deltex e3 ubiquitin ligase 3E2F7 : E2F transcription factor 7EMP1 : Epithelial membrane protein 1ENDOU : encoding protein Endonuclease, poly(u) specificERGIC2 : encodingprotein a protein of 377 amino acid residuesFAM60A: encodingprotein FAM60A FAM186B : encodingprotein Protein FAM186BGABARAPL1 : encoding protein Gaba type a receptor associated protein like 1GPD1 : encodingprotein Glycerol-3-phosphate dehydrogenase 1GOLT1B : Golgi transport 1BGPN3 : encodingenzyme GPN-loop GTPase 3HNF1A-AS1 : encodingprotein HNF1A antisense RNA 1HPD : 4-hydroxyphenylpyruvate dioxygenaseIFFO1 : encodingprotein Intermediate filament family orphan 1IFNG-AS1 : encodinglong non-coding RNA IFNG antisense RNA 1KANSL2 : encodingprotein KAT8 regulatory NSL complex subunit 2 (KANSL2)KCNA1 : potassium voltage-gated channel subfamily A member 1 at 12p13.32KDM2B : encodingprotein Lysine (K)-specific demethylase 2BKERA : keratocanKRAS : V-Ki-ras2 Kirsten rat sarcoma viral oncogene homologLARP4 : encodingprotein La-related protein 4LEPREL2 : encodingenzyme Prolyl 3-hydroxylase 3LINC00173 : encoding protein Long intergenic non-protein coding rna 173*LMBR1L : encodingprotein Protein LMBR1LLRRC23 : encodingprotein Leucine-rich repeat-containing protein 23LRRIQ1 : encodingprotein Leucine-rich repeats and IQ motif containing 1LRRK2 : leucine-rich repeat kinase 2MBOAT5 : encodingenzyme Lysophospholipid acyltransferase 5METTL1 : encodingenzyme tRNA (guanine-N(7)-)-methyltransferaseMFAP5 : encodingprotein Microfibrillar-associated protein 5MIR196A2 : encodingmicroRNA MicroRNA 196a-2MIR200C : encoding MicroRNA 200cMMAB : methylmalonic aciduria (cobalamin deficiency) cblB typeMON2 : encodingprotein Protein MON2 homologMUCL1 : encodingprotein Mucin-like protein 1MYO1A : myosin IANANOG : NK-2 type homeodomain geneNAP1L1 : encodingprotein Nucleosome assembly protein 1-like 1NLRP9P1 : encoding protein NLR family pyrin domain containing 9 pseudogene 1NRIP2 : encodingprotein Nuclear receptor-interacting protein 2NUDT4 : encodingenzyme Diphosphoinositol polyphosphate phosphohydrolase 2PAH : phenylalanine hydroxylasePIP4K2C : encodingprotein Phosphatidylinositol-5-phosphate 4-kinase, type II, gammaPIWIL1 : encodingprotein Piwi-like protein 1PLBD1 : encodingprotein Phospholipase B domain containing 1 1POP5 : encodingenzyme Ribonuclease P/MRP protein subunit POP5PPHLN1 : encodingprotein Periphilin-1PPP1R12A : protein phosphatase 1, regulatory (inhibitor) subungfdit 12APRB1 : encodingprotein Basic salivary proline-rich protein 1PRB3 : encodingprotein Basic salivary proline-rich protein 3PRB4 : encodingprotein Basic salivary proline-rich protein 4PRH1 : encodingprotein Salivary acidic proline-rich phosphoprotein 1/2PRH2 : encodingprotein Proline-rich protein HaeIII subfamily 2PRMT8 : encodingprotein Protein arginine methyltransferase 8PRR4 : encodingprotein Proline-rich protein 4PTMS : encodingprotein ParathymosinPTPN11 : protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1)PUS1 : encodingenzyme tRNA pseudouridine synthase APUS7L : encodingenzyme Pseudouridylate synthase 7 homolog-like proteinPZP : encodingprotein Pregnancy zone proteinRAB3IP : encodingprotein RAB3A-interacting proteinRASSF8 : encodingprotein Ras association domain-containing protein 8RASSF9 : encodingprotein Ras association domain-containing protein 9RERG : encodingprotein RAS-like, estrogen-regulated, growth inhibitorRIMKLB : encoding protein Ribosomal modification protein rimk like family member bRNF34 : encodingenzyme E3 ubiquitin-protein ligase RNF34RNU4-1 : encoding protein RNA, U4 small nuclear 1SARNP : SAP domain-containing ribonucleoproteinSerpina3f : encodingprotein Serine (or cysteine) peptidase inhibitor, clade A, member 3FSHMT2 : encoding protein Serine hydroxymethyltransferase 2SLC8B1 : solute carrier family 8 member B1TBC1D15 : encodingprotein TBC1 domain family member 15TBX3 : encodingprotein T-boxtranscription factor 3TCHP : encodingprotein Trichoplein keratin filament-binding proteinTESPA1 : encodingprotein Thymocyte expressed, positive selection associated 1THAP2 : encodingprotein THAP domain-containing protein 2TMTC1 : encodingprotein Transmembrane and tetratricopeptide repeat containing 1TMEM117 : encodingprotein Transmembrane protein 117TRAFD1 : encodingprotein TRAF-type zinc finger domain-containing protein 1TSFM : encodingprotein Elongation factor Ts, mitochondrialTWF1 : twinfilin-1UNQ1887 :USP52 : encodingenzyme PAB-dependent poly(A)-specific ribonuclease subunit 2UTP20 : encodingprotein Small subunit processome component 20 homologVEZT : encodingprotein VezatinVPS37B : encoding protein Vps37b, escrt-i subunitYAF2 : encodingprotein YY1-associated factor 2ZCCHC8 : encodingprotein Zinc finger CCHC domain-containing protein 8ZFC3H1 : encodingprotein Zinc finger C3H1-type containingZNF26 : encodingprotein Zinc finger protein 26ZNF84 : encodingprotein Zinc finger protein 84ZNF268 : encodingprotein Zinc finger protein 268ZNF664 : encodingprotein Zinc finger protein 664Diseases and disorders [ edit ] The following diseases are some of those related to genes on chromosome 12:
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 the
mitotic process .
[ 15] G-bands of human chromosome 12 in resolution 850 bphs[ 3] Chr. Arm[ 16] Band[ 17] ISCN[ 18] ISCN[ 18] Basepair Basepair Stain[ 19] 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
^a b "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 .^ Tom Strachan; Andrew Read (2 April 2010).Human Molecular Genetics ISBN 978-1-136-84407-2 ^a b c Genome Decoration Page, NCBI.Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3) . Last update 2014-06-03. Retrieved 2017-04-26. ^ 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 PMC 2898077 PMID 20441615 . ^ "Statistics & Downloads for chromosome 12" .HUGO Gene Nomenclature Committee . 2017-05-12. Retrieved2017-05-19 .^ "Chromosome 12: Chromosome summary - Homo sapiens" .Ensembl Release 88 . 2017-03-29. Retrieved2017-05-19 .^ "Human chromosome 12: entries, gene names and cross-references to MIM" .UniProt . 2018-02-28. Retrieved2018-03-16 .^ "Search results - 12[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene" .NCBI . 2017-05-19. Retrieved2017-05-20 .^ "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 .^ "Search results - 12[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene" .NCBI . 2017-05-19. Retrieved2017-05-20 .^ 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 . ^ Genome Decoration Page, NCBI.Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3) . Last update 2014-03-04. Retrieved 2017-04-26. ^ Genome Decoration Page, NCBI.Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3) . Last update 2015-08-11. Retrieved 2017-04-26. ^ International Standing Committee on Human Cytogenetic Nomenclature (2013).ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013) ISBN 978-3-318-02253-7 ^ 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 .ISBN 978-1-4673-1921-8 S2CID 16666470 . ^ "p ": Short arm; "q ": Long arm. ^ For cytogenetic banding nomenclature, see articlelocus . ^a b 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 . ^ gpos : Region which is positively stained byG banding , generallyAT-rich and gene poor;gneg : Region which is negatively stained by G banding, generallyCG-rich and gene rich;acen Centromere .var : Variable region;stalk : Stalk.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.Bibcode :2001Natur.409..945M .doi :10.1038/35057174 PMID 11237017 . National Institutes of Health."Chromosome 12" .Genetics Home Reference . Archived fromthe original on 2007-06-12. Retrieved2017-05-06 . "Chromosome 12" .Human Genome Project Information Archive 1990–2003 . Retrieved2017-05-06 .
Basic Types Processes Structures
See also
