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{{Short description|Human chromosome}}
{{Use dmy dates|date=June 2014}}
{{Infobox chromosome
| image = Human_male_karyotpe_high_resolution_-_Chromosome_22_cropped.png
| caption2 = Chromosome 22 pair<br/>in human male [[karyogram]].
| length_bp = 51,324,926 bp<br/>(CHM13)
| genes = 417 ([[Consensus CDS Project|CCDS]])<ref name="CCDS"/>
| type = [[Autosome]]
| centromere_position = [[Centromere#Acrocentric|Acrocentric]]<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/>(15.0 Mbp<ref name="850bphs">Genome Decoration Page, NCBI. [
| chr = 22
| ensembl_id = 22
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| genbank_id = CM000684
|caption=Human chromosome 22 pair after [[G banding|G-banding]].<br/>One is from mother, one is from father.|image2=Human_male_karyotpe_high_resolution_-_Chromosome_22.png}}
'''Chromosome 22''' is one of the 23 pairs of [[chromosome]]s in human [[cell (biology)|cells]]. Humans normally have two copies of chromosome 22 in each cell. Chromosome 22 is the second smallest human chromosome, spanning about
In 1999, researchers working on the [[Human Genome Project]] announced they had determined the sequence of base pairs that make up this chromosome. Chromosome 22 was the first human chromosome to be fully sequenced.<ref>{{cite journal |last= Mayor |first= Susan |year= 1999 |title= First human chromosome is sequenced |journal= BMJ |volume= 319 |issue= 7223 |pages= 1453 |publisher= BMJ Group |pmc= 1117192 |doi=10.1136/bmj.319.7223.1453a |pmid=10582915}}</ref>
Human chromosomes are numbered by their apparent size in the [[karyotype]], with [[
==Genes==
=== Number of genes ===
The following are some of the gene count estimates of human chromosome 22. 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 |
{| class="wikitable" style="text-align:right"
! Estimated by
! [[Protein-coding genes]]
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|-
| [[Consensus CDS Project|CCDS]] || 417 || — || —
|style="text-align:center"| <ref name="CCDS">{{cite web | title=Search results - 22[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene | website= NCBI |version = CCDS Release 20 for ''Homo sapiens'' | url=https://www.ncbi.nlm.nih.gov/gene?term=22%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 |
| 2016-09-08
|-
| [[HUGO Gene Nomenclature Committee|HGNC]]|| 424 || 161 || 295
|style="text-align:center"| <ref name="HGNC20190708">{{cite web | title=Statistics & Downloads for chromosome 22 | website=HUGO Gene Nomenclature Committee | url=https://www.genenames.org/cgi-bin/statistics?c=22
| 2019-07-08
|-
| [[Ensembl genome database project|Ensembl]] || 489 || 515 || 325
|style="text-align:center"| <ref name="Ensembl Release 88">{{cite web | title=Chromosome 22: Chromosome summary - Homo sapiens | website= Ensembl Release 88 | url=http://mar2017.archive.ensembl.org/Homo_sapiens/Location/Chromosome?r=22 |date=2017-03-29 |
| 2017-03-29
|-
| [[UniProt]] || 496 || — || —
|style="text-align:center"| <ref name="UniProt">{{cite web | title=Human chromosome 22: entries, gene names and cross-references to MIM | website= UniProt | url=https://www.uniprot.org/docs/humchr22.txt |date=2018-02-28 |
| 2018-02-28
|-
| [[National Center for Biotechnology Information|NCBI]] || 474 || 392 || 379
|style="text-align:center"| <ref name="NCBI coding">{{cite web | title=Search results - 22[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene | website=NCBI | date=2017-05-19 | url=https://www.ncbi.nlm.nih.gov/gene?term=22%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 |
| 2017-05-19
|}
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{{columns-list|
* [[ADM2]]: encoding [[protein]] ADM2
* [[APOBEC3B]]: encoding [[protein]]
* [[ARFGAP3]]: encoding [[protein]] ADP-ribosylation factor GTPase-activating protein 3
* [[ASCC2]]: encoding [[protein]]
* [[ATF4]] (22q13) encoding protein cyclic AMP-dependent transcription factor ATF-4
* [[BCR (gene)|BCR]] (22q11) encoding breakpoint cluster region protein
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* [[CBX7 (gene)|CBX7]] (22q13) encoding chromobox protein homolog 7
* [[CDC42EP1]]: CDC42 effector protein 1
* [[CECR1]]:
* [[CHEK2]] (22q12)
* [[COMT]]: Catechol-O-methyltransferase
* [[CRELD2]]:
* [[CSDC2]]:
* [[Casein kinase 1 isoform epsilon|CSNK1E]]: encoding [[enzyme]]
* [[DGCR5]]: encoding a [[long non-coding RNA]]
* [[DGCR6]]: DiGeorge
* [[EP300]]
* [[Ep300 antisense rna 1|EP300-AS1]]
* [[EWSR1]]
* [[TAFA5]]:
* [[FAM227a|FAM227A]]: encoding protein FAM227A
* [[FBLN1]]
* [[GTPBP1]]: GTP-binding protein 1
* [[HMGXB4]]: encoding protein HMG-box containing 4
* [[IFT27]]: encoding protein intraflagellar transport 27
* [[IGL@]]
* [[IGLJ3]] encoding [[protein]]
* [[IGLL5]]: encoding protein immunoglobulin lambda like polypeptide 5
* [[KIAA0930]]: encoding uncharacterized protein KIAA0930
* [[LINC00899]] encoding [[protein]]
* [[MAPK1]]
* [[MAPK12]]
* [[MCAT (gene)|MCAT]]: encoding [[enzyme]]
* [[MCM5]]
* [[Macrophage migration inhibitory factor|MIF]]
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* [[MYH9]]
* [[Merlin (protein)|NF2]]
* [[NOL12]]: encoding [[protein]]
* [[PARVB]]
* [[PDGFB]]
* [[PI4KA]]: encoding [[enzyme]]
* [[PI4KAP2]]: pseudogene phosphatidylinositol 4-kinase alpha pseudogene 2
* [[PISD (gene)|PISD]]: encoding [[enzyme]]
* [[PNPLA3]]: encoding [[enzyme]]
* [[PRAME]]: encoding [[protein]]
* [[RAC2]]
* [[RBX1]]
* [[RNR5]]: encoding RNA, ribosomal 45S cluster 5
* [[
* [[
* [[
* [[RTL6]]: encoding protein retrotransposon Gag Like 6
* [[SAMM50]]: encoding [[protein]] sorting and assembly machinery component 50 homolog
* [[SEPT3]]: encoding [[protein]] neuronal-specific septin-3
* [[SEPT5]]
* [[SHFM3P1]]:
* [[SOX10]]
* [[SYNGR1]]: encoding [[protein]]
* [[TBC1D10A]]: encoding [[protein]] TBC1 domain family member 10A
* [[TEF (gene)|TEF]]: encoding [[protein]]
* [[THAP7]]: encoding [[protein]] THAP domain-containing protein 7
* [[THOC5]]: encoding [[protein]] THO complex subunit 5 homolog
* [[TRMU]]: encoding [[enzyme]]
* [[TTC28]]: encoding [[protein]]
* [[TTLL1]]: encoding [[enzyme]]
* [[Ku70|XRCC6]]: encoding [[protein]] Ku70
}}
{| class="wikitable"
|-
|{{Locus|22|q|11|.1-q11.2}} || [[IGL@]]||[[Asymmetric crying facies]] (Cayler cardiofacial syndrome) ||
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| {{Locus|22|q|12|.1-q13.1}} || [[NEFH]]|| neurofilament, heavy polypeptide 200kDa ||
|-
| {{Locus|22|q|12|.1}}<ref>{{cite journal|last1=Beck|first1=Megan|last2=Peterson|first2=Jess F.|last3=McConnell|first3=Juliann|last4=McGuire|first4=Marianne|last5=Asato|first5=Miya|last6=Losee|first6=Joseph E.|last7=Surti|first7=Urvashi|last8=Madan-Khetarpal|first8=Suneeta|last9=Rajkovic|first9=Aleksandar|last10=Yatsenko|first10=Svetlana A.|title=Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the gene|journal=American Journal of Medical Genetics Part A|date=May 2015|volume=167|issue=5|pages=1047–1053|doi=10.1002/ajmg.a.36839|url=https://escholarship.org/uc/item/0vx445vv#page-1|pmid=25810350|s2cid=205319722}}</ref>|| [[CHEK2]]|| CHK2 checkpoint homolog (S. pombe) ||
|-
| {{Locus|22|q|12|.2}} || [[NF2 (gene)|NF2]]|| neurofibromin 2 || bilateral [[acoustic neuroma]]
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* [[Cat eye syndrome]]
* [[Chronic myeloid leukemia]]
* [[DiGeorge
* [[Desmoplastic small round cell tumor]]
* [[22q11.2 distal deletion syndrome]]
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* [[Neurofibromatosis type 2]]
* [[Opitz G/BBB syndrome]]
* [[Renal medullary carcinoma]]
* [[Rubinstein-Taybi syndrome]]
* [[Waardenburg syndrome]]
* [[Schizophrenia]]<ref name="pmid12477929">{{cite journal |vauthors=Liu H, Abecasis GR, Heath SC, Knowles A, Demars S, Chen YJ, Roos JL, Rapoport JL, Gogos JA, Karayiorgou M |title=Genetic variation in the 22q11 locus and susceptibility to schizophrenia |journal=[[Proc. Natl. Acad. Sci. U.S.A.]] |volume=99 |issue=26 |pages=16859–64 |date=December 2002 |pmid=12477929 |pmc=139234 |doi=10.1073/pnas.232186099 |bibcode=2002PNAS...9916859L |doi-access=free }}</ref>
{{div col end}}
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* [[22q11.2 distal deletion syndrome]]
* [[22q13 deletion syndrome]]
* Other chromosomal conditions: Other changes in the number or structure of chromosome 22 can have a variety of effects, including
* [[Cat-eye syndrome]] is a rare disorder most often caused by a chromosomal change called an inverted duplicated 22. A small extra chromosome is made up of genetic material from chromosome 22 that has been abnormally duplicated (copied). The extra genetic material causes the characteristic signs and symptoms of cat-eye syndrome, including an eye abnormality called [[ocular iris coloboma]] (a gap or split in the colored part of the eye), small skin tags or pits in front of the ear, heart defects, kidney problems, and, in some cases, delayed development.
* A rearrangement ([[Chromosomal translocation|translocation]]) of genetic material between chromosomes 9 and 22 is associated with several types of blood cancer ([[leukemia]]). This chromosomal abnormality, which is commonly called the [[Philadelphia chromosome]], is found only in cancer cells. The Philadelphia chromosome has been identified in most cases of a slowly progressing form of blood cancer called [[chronic myeloid leukemia]], or CML. It also has been found in some cases of more rapidly progressing blood cancers (acute leukemias). The presence of the Philadelphia chromosome can help predict how the cancer will progress and provides a target for molecular therapies.
* [[Emanuel
==Cytogenetic band==
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| width2 = 1003
| height2= 2801
| caption2 = G-banding patterns of human chromosome 22 in three different resolutions (400,<ref name="400bphs">Genome Decoration Page, NCBI. [
}}
{| class="wikitable" style="text-align:right"
|+ [[G banding|G-band]]s of human chromosome 22 in resolution 850 bphs<ref
! Chr.
! Arm<ref>"'''p'''": Short arm; "'''q'''": Long arm.</ref>
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==Further reading==
* {{cite journal |vauthors=Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien KP | title=The DNA sequence of human chromosome 22 | journal=Nature | year=1999 | pages=489–95 | volume=402 | issue=6761 | pmid=10591208 | doi=10.1038/990031| bibcode=1999Natur.402..489D | doi-access=free }}
* {{cite journal | author=Gilbert F | title=Disease genes and chromosomes: disease maps of the human genome. Chromosome 22 | journal=Genet Test | year=1998 | pages=89–97 | volume=2 | issue=1 | pmid=10464604 | doi=10.1089/gte.1998.2.89}}
* {{cite journal |vauthors=Kurzrock R, Kantarjian HM, Druker BJ, Talpaz M | title=Philadelphia chromosome-positive leukemias: from basic mechanisms to molecular therapeutics | journal=Ann Intern Med | year=2003 | pages=819–30 | volume=138 | issue=10 | pmid=12755554 | doi=10.7326/0003-4819-138-10-200305200-00010| s2cid=25865321 }}
* {{cite journal |vauthors=Maynard TM, Haskell GT, Lieberman JA, LaMantia AS | title=22q11 DS: genomic mechanisms and gene function in DiGeorge/velocardiofacial syndrome | journal=Int J Dev Neurosci | year=2002 | pages=407–19 | volume=20 | issue=3–5 | pmid=12175881 | doi=10.1016/S0736-5748(02)00050-3| s2cid=22941004 }}
* {{cite journal |vauthors=McDermid HE, Morrow BE | title=Genomic disorders on 22q11 | journal=Am J Hum Genet | year=2002 | pages=1077–88 | volume=70 | issue=5 | pmid=11925570 | doi=10.1086/340363 | pmc=447586}}
* {{cite journal |vauthors=McDonald-McGinn DM, Kirschner R, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Solot C, Wang P, Jacobs I, Handler S, Knightly C, Heher K, Wilson M, Ming JE, Grace K, Driscoll D, Pasquariello P, Randall P, Larossa D, Emanuel BS, Zackai EH | title=The Philadelphia story: the 22q11.2 deletion: report on 250 patients | journal=Genet Couns | year=1999 | pages=11–24 | volume=10 | issue=1 | pmid=10191425}}
* {{cite journal |vauthors=Rinn JL, Euskirchen G, Bertone P, Martone R, Luscombe NM, Hartman S, Harrison PM, Nelson FK, Miller P, Gerstein M, Weissman S, Snyder M | title=The transcriptional activity of human Chromosome 22 | journal=Genes Dev | year=2003 | pages=529–40 | volume=17 | issue=4 | pmid=12600945 | doi=10.1101/gad.1055203 | pmc=195998}}
* {{cite journal |vauthors=Wilson HL, Wong AC, Shaw SR, Tse WY, Stapleton GA, Phelan MC, Hu S, Marshall J, McDermid HE | year = 2003 | title = Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSASP2 in the major neurological symptoms
==External links==
{{Commons category|Human chromosome 22}}
* {{cite web | author= National Institutes of Health
* {{Cite web|url=http://web.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/chromo22.shtml|title=Chromosome 22|website=Human Genome Project Information Archive 1990–2003|access-date=2017-05-06}}
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