View source for Chromosome 18

{{Infobox chromosome
| image = Human male karyotpe high resolution - Chromosome 18 cropped.png
| caption = Human chromosome 18 pair after [[G banding|G-banding]].<br/>One is from mother, one is from father.
| image2 = Human male karyotpe high resolution - Chromosome 18.png
| caption2 = Chromosome 18 pair<br/>in human male [[karyogram]].
| length_bp = 80,373,285 bp<br/>([[GRCh38]])<ref name="National Center for Biotechnology Information 2017">{{cite web | title=Human Genome Assembly GRCh38 - Genome Reference Consortium | website=National Center for Biotechnology Information | date=2013-12-24 | url=https://www.ncbi.nlm.nih.gov/grc/human/data?asm=GRCh38 | language=en | accessdate=2017-03-04}}</ref>
| genes = 261 ([[Consensus CDS Project|CCDS]])<ref name="CCDS"/>
| type = [[Autosome]]
| centromere_position = [[Centromere#Submetacentric|Submetacentric]]<ref name="StrachanRead2010">{{cite book|author1=Tom Strachan|author2=Andrew Read|title=Human Molecular Genetics|url=https://books.google.com/books?id=dSwWBAAAQBAJ&pg=PA45|date=2 April 2010|publisher=Garland Science|isbn=978-1-136-84407-2|page=45}}</ref><br/>(18.5 Mbp<ref name="850bphs">Genome Decoration Page, NCBI.   [ftp://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_850_V1 Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3)]. Last update 2014-06-03. Retrieved 2017-04-26.</ref>)
| chr = 18
| ensembl_id = 18
| entrez_id = 18
| ncbi_id = 18
| ucsc_id = 18
| refseq_id = NC_000018
| genbank_id = CM000680
}}
'''Chromosome 18''' is one of the 23 pairs of [[chromosome]]s in [[human]]s. People normally have two copies of this chromosome. Chromosome 18 spans about 80 million [[base pair]]s (the building material of [[DNA]]) and represents about 2.5 percent of the total DNA in [[cell (biology)|cells]].

==Genes==
=== Number of genes ===
The following are some of the gene count estimates of human chromosome 18. 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 ([[Consensus CDS 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.<ref name="pmid20441615">{{cite journal| author=Pertea M, Salzberg SL| title=Between a chicken and a grape: estimating the number of human genes. | journal=Genome Biol | year= 2010 | volume= 11 | issue= 5 | pages= 206 | pmid=20441615 | doi=10.1186/gb-2010-11-5-206 | pmc=2898077 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20441615  }} </ref>

{| class="wikitable" style="text-align:right"
|-
! Estimated by
! [[Protein-coding genes]]
! [[Non-coding RNA|Non-coding RNA gene]]s
! [[Pseudogene]]s
! Source
! Release date
|-
| [[Consensus CDS Project|CCDS]] || 261 || — || —
|style="text-align:center"| <ref name="CCDS">{{cite web | title=Search results - 18&#91;CHR&#93; AND "Homo sapiens"&#91;Organism&#93; AND ("has ccds"&#91;Properties&#93; AND alive&#91;prop&#93;)  - Gene | website= NCBI |version = CCDS Release 20 for ''Homo sapiens'' | url=https://www.ncbi.nlm.nih.gov/gene?term=18%5BChr%5D%20AND%20%22Homo%20sapiens%22%5BOrganism%5D%20AND%20%28%22has%20ccds%22%5BProperties%5D%20AND%20alive%5Bprop%5D%29&cmd=DetailsSearch |date=2016-09-08 | accessdate=2017-05-28}}</ref>
| 2016-09-08 
|-
| [[HUGO Gene Nomenclature Committee|HGNC]]|| 262 || 138 || 241
|style="text-align:center"| <ref name="HGNC20170512">{{cite web | title=Statistics & Downloads for chromosome 18 | website=HUGO Gene Nomenclature Committee | url=https://www.genenames.org/cgi-bin/statistics?c=18  |date=2017-05-12 | accessdate=2017-05-19}}</ref>
| 2017-05-12 
|-
| [[Ensembl genome database project|Ensembl]] || 268 || 608 || 247
|style="text-align:center"| <ref name="Ensembl Release 88">{{cite web | title=Chromosome 18: Chromosome summary - Homo sapiens | website= Ensembl Release 88 | url=http://mar2017.archive.ensembl.org/Homo_sapiens/Location/Chromosome?r=18 |date=2017-03-29 | accessdate=2017-05-19}}</ref>
| 2017-03-29 
|-
| [[UniProt]] || 276 || — || —
|style="text-align:center"| <ref name="UniProt">{{cite web | title=Human chromosome 18: entries, gene names and cross-references to MIM | website= UniProt | url=https://www.uniprot.org/docs/humchr18.txt |date=2018-02-28 | accessdate=2018-03-16}}</ref>
| 2018-02-28 
|-
| [[National Center for Biotechnology Information|NCBI]] || 285 || 432 || 304
|style="text-align:center"| <ref name="NCBI coding">{{cite web | title=Search results - 18&#91;CHR&#93; AND "Homo sapiens"&#91;Organism&#93; AND ("genetype protein coding"&#91;Properties&#93; AND alive&#91;prop&#93;)  - Gene | website=NCBI | date=2017-05-19 | url=https://www.ncbi.nlm.nih.gov/gene?term=18%5BCHR%5D%20AND%20%22Homo%20sapiens%22%5BOrganism%5D%20AND%20%28%22genetype%20protein%20coding%22%5BProperties%5D%20AND%20alive%5Bprop%5D%29&cmd=DetailsSearch | accessdate=2017-05-20}}</ref><ref name="NCBI noncoding">{{cite web | title=Search results - 18&#91;CHR&#93; AND "Homo sapiens"&#91;Organism&#93; AND ( ("genetype miscrna"&#91;Properties&#93; OR "genetype ncrna"&#91;Properties&#93; OR "genetype rrna"&#91;Properties&#93; OR "genetype trna"&#91;Properties&#93; OR "genetype scrna"&#91;Properties&#93; OR "genetype snrna"&#91;Properties&#93; OR "genetype snorna"&#91;Properties&#93;) NOT "genetype protein coding"&#91;Properties&#93; AND alive&#91;prop&#93;) - Gene | website=NCBI | date=2017-05-19 | url=https://www.ncbi.nlm.nih.gov/gene?term=18%5BCHR%5D%20AND%20%22Homo%20sapiens%22%5BOrganism%5D%20AND%20%28%28%22genetype%20miscrna%22%5BProperties%5D%20OR%20%22genetype%20ncrna%22%5BProperties%5D%20OR%20%22genetype%20rrna%22%5BProperties%5D%20OR%20%22genetype%20trna%22%5BProperties%5D%20OR%20%22genetype%20scrna%22%5BProperties%5D%20OR%20%22genetype%20snrna%22%5BProperties%5D%20OR%20%22genetype%20snorna%22%5BProperties%5D%29%20NOT%20%22genetype%20protein%20coding%22%5BProperties%5D%20AND%20alive%5Bprop%5D%29&cmd=DetailsSearch | accessdate=2017-05-20}}</ref><ref name="NCBI pseudo">{{cite web | title=Search results - 18&#91;CHR&#93; AND "Homo sapiens"&#91;Organism&#93; AND ("genetype pseudo"&#91;Properties&#93; AND alive&#91;prop&#93;)  - Gene | website=NCBI | date=2017-05-19 | url=https://www.ncbi.nlm.nih.gov/gene?term=18%5BCHR%5D%20AND%20%22Homo%20sapiens%22%5BOrganism%5D%20AND%20%28%22genetype%20pseudo%22%5BProperties%5D%20AND%20alive%5Bprop%5D%29&cmd=DetailsSearch | accessdate=2017-05-20}}</ref>
| 2017-05-19 
|}

=== Gene list ===
{{Category see also|Genes on human chromosome 18}}
The following is a partial list of genes on human chromosome 18. For complete list, see the link in the infobox on the right.
{{columns-list|
* [[ASXL3]]: encoding [[protein]] Additional sex combs like 3 (Drosophila)
* [[CABLES1]]: encoding [[protein]] CDK5 and ABL1 enzyme substrate 1
* [[CABYR]]: Calcium-binding tyrosine phosphorylation-regulated protein
* [[CHMP1B]]: Charged multivesicular body protein 1b
* [[CXXC1]]: CXXC-type zinc finger protein 1
* [[DCC (gene)|DCC]]: Deleted in Colorectal Cancer
* [[ELAC1]]: elaC ribonuclease Z 1
* [[ESCO1]]: encoding [[protein]] Establishment of sister chromatid cohesion N-acetyltransferase 1
* [[FAM69C]]: encoding [[protein]] Family with sequence similarity 69, member C
* [[FECH (gene)|FECH]]: ferrochelatase (protoporphyria)
* [[GREB1L]]: encoding [[protein]] Growth regulation by estrogen in breast cancer-like
* [[HAUS1]]: HAUS augmin-like complex subunit 1
* [[HDHD2]]: encoding [[enzyme]] Haloacid dehalogenase-like hydrolase domain-containing protein 2
* [[IER3IP1]]: encoding [[protein]] Immediate early response 3-interacting protein 1
* [[KC6]]: Keratoconus gene 6, discovery reported in 2005;
* [[MIR133A1]]: encoding [[microRNA]] MicroRNA 133a-1
* [[MIR187]]: encoding [[protein]] MicroRNA 187
* [[MRCL3]]: encoding protein Myosin regulatory light chain 12A
* [[NAPG]]: encoding [[protein]] Gamma-soluble NSF attachment protein
* [[NOL4]]: encoding [[protein]] Nucleolar protein 4
* [[NPC1]]: Niemann-Pick disease, type C1
* [[PIGN (gene)|PIGN]]: encoding [[protein]] Phosphatidylinositol glycan anchor biosynthesis, class N
* [[PSTPIP2]]: encoding [[enzyme]] Proline-serine-threonine phosphatase-interacting protein 2
* [[RP11-267C16.1]]: encoding [[protein]] Uncharacterized LOC100287225
* [[SERPINB10]]: encoding [[protein]] Serpin peptidase inhibitor, clade B (ovalbumin), member 10
* [[Sialic acid binding ig-like lectin 15|SIGLEC15]]: encoding [[protein]] Sialic acid binding Ig-like lectin 15
* [[SMAD4]]: SMAD, mothers against DPP homolog 4 (Drosophila)<!-- yes, SMAD really does contain "mothers against" -->
* [[TMEM241]]: encoding [[protein]] Transmembrane protein 241
* [[Tetratricopeptide repeat protein 39C|TTC39C]]: encoding [[protein]] Tetratricopeptide repeat protein 39C
* [[TWSG1]]: encoding [[protein]] Twisted gastrulation protein homolog 1
* [[ZCCHC2]]: encoding [[protein]] Zinc finger CCHC domain-containing protein 2
* [[ZFP161]]: encoding [[protein]] Zinc finger protein 161 homolog
* [[Zinc finger protein 236|ZNF236]]: encoding [[protein]] Zinc finger protein 236
* [[Zinc finger protein 516|ZNF516]]: encoding [[protein]] Zinc finger protein 516
* [[Zinc finger protein 521|ZNF521]]: encoding [[protein]] Zinc finger protein 521
* [[Zinc finger protein 532|ZNF532]]: encoding [[protein]] Zinc finger protein 532
}}

==Diseases and disorders==
The following diseases are some of those related to genes on chromosome 18:
* [[Erythropoietic protoporphyria]]
* [[Hereditary hemorrhagic telangiectasia]]
* [[Niemann-Pick disease]] Type C
* [[Porphyria]]
* [[Selective Mutism]]
* [[Edwards syndrome|Edwards syndrome (Trisomy 18)]]
* [[Tetrasomy 18p]]
* [[Monosomy 18p]]
* [[Pitt-Hopkins Syndrome|Pitt Hopkins Syndrome 18q21]]
* [[Distal 18q-]] (distal deletion)<ref>{{Cite web|url=http://www.chromosome18.org|title=chromosome18|website=www.chromosome18.org|language=en-US|access-date=2017-01-19}}</ref>
* [[Proximal 18q-]] (proximal deletion)

==Cytogenetic band==
{{multiple image
 | header = G-banding ideograms of human chromosome 18 
 | total_width = 400
 | image1 = Human chromosome 18 ideogram vertical.svg
 | width1 = 216
 | height1= 1125
 | caption1 = G-banding ideogram of human chromosome 18 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]]).
 | image2 = Human chromosome 18 - 400 550 850 bphs.png
 | width2 = 1003
 | height2= 2801
 | caption2 = G-banding patterns of human chromosome 18 in three different resolutions (400,<ref name="400bphs">Genome Decoration Page, NCBI. [ftp://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_400_V1 Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3)]. Last update 2014-03-04. Retrieved 2017-04-26.</ref> 550<ref name="550bphs">Genome Decoration Page, NCBI.   [ftp://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_550_V1 Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3)]. Last update 2015-08-11. Retrieved 2017-04-26.</ref> and 850<ref name="850bphs">Genome Decoration Page, NCBI.   [ftp://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_850_V1 Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3)]. Last update 2014-06-03. Retrieved 2017-04-26.</ref>). Band length in this diagram is based on the ideograms from ISCN (2013).<ref name="Nomenclature2013">{{cite book|author=International Standing Committee on Human Cytogenetic Nomenclature|title=ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013)|url=https://books.google.com/books?id=lGCLrh0DIwEC|year=2013|publisher=Karger Medical and Scientific Publishers|isbn=978-3-318-02253-7}}</ref> This type of ideogram represents actual relative band length observed under a microscope at the different moments during the [[Mitosis|mitotic process]].<ref name="SethakulvichaiManitpornsut2012">{{cite journal|last1=Sethakulvichai|first1=W.|last2=Manitpornsut|first2=S.|last3=Wiboonrat|first3=M.|last4=Lilakiatsakun|first4=W.|last5=Assawamakin|first5=A.|last6=Tongsima|first6=S.|title=Estimation of band level resolutions of human chromosome images|year=2012|pages=276–282|journal=In Computer Science and Software Engineering (JCSSE), 2012 International Joint Conference on|doi=10.1109/JCSSE.2012.6261965|url=https://www.researchgate.net/profile/Anunchai_Assawamakin/publication/261304470_Estimation_of_band_level_resolutions_of_human_chromosome_images/links/5459f7ff0cf2cf516483fffd/Estimation-of-band-level-resolutions-of-human-chromosome-images.pdf}}</ref>
}}
{| class="wikitable" style="text-align:right"
|+ [[G banding|G-band]]s of human chromosome 18 in resolution 850 bphs<ref>Genome Decoration Page, NCBI.   [ftp://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_850_V1 Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3)]. Last update 2014-06-03. Retrieved 2017-04-26.</ref>
! Chr. 
! Arm<ref>"'''p'''": Short arm; "'''q'''": Long arm.</ref> 
! Band<ref>For cytogenetic banding nomenclature, see article [[Locus (genetics)|locus]].</ref> 
! ISCN<br/>start<ref name="ISCN">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]].</ref> 
! ISCN<br/>stop<ref name="ISCN"/>
! Basepair<br/>start 
! Basepair<br/>stop 
! Stain<ref>'''gpos''': Region which is positively stained by [[G banding]], generally [[GC-content|AT-rich]] and gene poor; '''gneg''': Region which is negatively stained by G banding, generally [[GC-content|CG-rich]] and gene rich; '''acen''' [[Centromere]]. '''var''': Variable region; '''stalk''': Stalk.</ref> 
! Density
|-
| 18 || p 
|style="text-align:left"| 11.32 || 0 || 159 || {{val|1|fmt=commas}} || {{val|2900000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 18 || p 
|style="text-align:left"| 11.31 || 159 || 430 || {{val|2900001|fmt=commas}} || {{val|7200000|fmt=commas}} 
|style="background:#979797"| gpos || 50
|-
| 18 || p 
|style="text-align:left"| 11.23 || 430 || 526 || {{val|7200001|fmt=commas}} || {{val|8500000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 18 || p 
|style="text-align:left"| 11.22 || 526 || 685 || {{val|8500001|fmt=commas}} || {{val|10900000|fmt=commas}} 
|style="background:#d9d9d9"| gpos || 25
|-
| 18 || p 
|style="text-align:left"| 11.21 || 685 || 1035 || {{val|10900001|fmt=commas}} || {{val|15400000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 18 || p 
|style="text-align:left"| 11.1 || 1035 || 1290 || {{val|15400001|fmt=commas}} || {{val|18500000|fmt=commas}} 
|style="background:#6e7f8f; color:white;"| acen || 
|-
| 18 || q 
|style="text-align:left"| 11.1 || 1290 || 1561 || {{val|18500001|fmt=commas}} || {{val|21500000|fmt=commas}} 
|style="background:#6e7f8f; color:white;"| acen || 
|-
| 18 || q 
|style="text-align:left"| 11.2 || 1561 || 1847 || {{val|21500001|fmt=commas}} || {{val|27500000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 18 || q 
|style="text-align:left"| 12.1 || 1847 || 2229 || {{val|27500001|fmt=commas}} || {{val|35100000|fmt=commas}} 
|style="background:black; color:white;"| gpos || 100
|-
| 18 || q 
|style="text-align:left"| 12.2 || 2229 || 2436 || {{val|35100001|fmt=commas}} || {{val|39500000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 18 || q 
|style="text-align:left"| 12.3 || 2436 || 2755 || {{val|39500001|fmt=commas}} || {{val|45900000|fmt=commas}} 
|style="background:#636363; color:white;"| gpos || 75
|-
| 18 || q 
|style="text-align:left"| 21.1 || 2755 || 3153 || {{val|45900001|fmt=commas}} || {{val|50700000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 18 || q 
|style="text-align:left"| 21.2 || 3153 || 3392 || {{val|50700001|fmt=commas}} || {{val|56200000|fmt=commas}} 
|style="background:#636363; color:white;"| gpos || 75
|-
| 18 || q 
|style="text-align:left"| 21.31 || 3392 || 3519 || {{val|56200001|fmt=commas}} || {{val|58600000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 18 || q 
|style="text-align:left"| 21.32 || 3519 || 3663 || {{val|58600001|fmt=commas}} || {{val|61300000|fmt=commas}} 
|style="background:#979797"| gpos || 50
|-
| 18 || q 
|style="text-align:left"| 21.33 || 3663 || 3758 || {{val|61300001|fmt=commas}} || {{val|63900000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 18 || q 
|style="text-align:left"| 22.1 || 3758 || 4077 || {{val|63900001|fmt=commas}} || {{val|69100000|fmt=commas}} 
|style="background:black; color:white;"| gpos || 100
|-
| 18 || q 
|style="text-align:left"| 22.2 || 4077 || 4204 || {{val|69100001|fmt=commas}} || {{val|71000000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 18 || q 
|style="text-align:left"| 22.3 || 4204 || 4411 || {{val|71000001|fmt=commas}} || {{val|75400000|fmt=commas}} 
|style="background:#d9d9d9"| gpos || 25
|-
| 18 || q 
|style="text-align:left"| 23 || 4411 || 4650 || {{val|75400001|fmt=commas}} || {{val|80373285|fmt=commas}}
| style="background:white"| gneg || 
|}

==References==
{{reflist}}
{{refbegin}}
* {{cite journal | vauthors=Nusbaum C, Zody MC, Borowsky ML, Kamal M, Kodira CD, Taylor TD, Whittaker CA, Chang JL, Cuomo CA, Dewar K, FitzGerald MG, Yang X, Abouelleil A, Allen NR, Anderson S, Bloom T, Bugalter B, Butler J, Cook A, DeCaprio D, Engels R, Garber M, Gnirke A, Hafez N, Hall JL, Norman CH, Itoh T, Jaffe DB, Kuroki Y, Lehoczky J, Lui A, Macdonald P, Mauceli E, Mikkelsen TS, Naylor JW, Nicol R, Nguyen C, Noguchi H, O'Leary SB, O'Neill K, Piqani B, Smith CL, Talamas JA, Topham K, Totoki Y, Toyoda A, Wain HM, Young SK, Zeng Q, Zimmer AR, Fujiyama A, Hattori M, Birren BW, Sakaki Y, Lander ES | title=DNA sequence and analysis of human chromosome 18 | journal=Nature | year=2005 | pages=551–5 | volume=437 | issue=7058  | pmid=16177791 | doi=10.1038/nature03983}}
* {{cite journal | vauthors=Chen H, Wang N, Huo Y, Sklar P, MacKinnon DF, Potash JB, McMahon FJ, Antonarakis SE, ((DePaulo JR Jr)), Ross CA, McInnis MG | title=Trapping and sequence analysis of 1138 putative exons from human chromosome 18 | journal=Mol Psychiatry | year=2003 | pages=619–23 | volume=8 | issue=6  | pmid=12851638 | doi=10.1038/sj.mp.4001288}}
* {{cite journal | author=Gilbert F | title=Disease genes and chromosomes: disease maps of the human genome. Chromosome 18 | journal=Genet Test | year=1997 | pages=69–71 | volume=1 | issue=1  | pmid=10464628}}
{{refend}}

==External links==
{{Commons category|Human chromosome 18}}
* [http://www.chromosome18.org/ Chromosome18.org]
* [http://www.chromosome18eur.org/ Chromosome18 Registry And Research Society in Europe.]
* {{cite web | author= National Institutes of Health  | title= Chromosome 18 | work= Genetics Home Reference | url= http://ghr.nlm.nih.gov/chromosome=18| accessdate=2017-05-06}}
* {{Cite web|url=http://web.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/chromo18.shtml|title=Chromosome 18|website=Human Genome Project Information Archive 1990–2003|access-date=2017-05-06}}

{{Chromosomes}}
{{Chromosome genetics}}

{{DEFAULTSORT:Chromosome 18 (Human)}}
[[Category:Chromosomes (human)]]
[[Category:Genes on human chromosome 18|*]]