View source for Chromosome 2 (human)

{{Use dmy dates|date=July 2013}}
{{Infobox chromosome
| image = Human male karyotpe high resolution - Chromosome 2 cropped.png
| caption = Human chromosome 2 pair after [[G banding]]. One is from mother, one is from father.
| image2 = Human male karyotpe high resolution - Chromosome 2.png
| caption2 = Chromosome 2 pair<br/> in human male [[karyogram]].
| length_bp = 242,193,529 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 = 1,194 ([[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/>(93.9 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>)
| ensembl_id = 2
| entrez_id = 2
| ncbi_id = 2
| ucsc_id = 2
| refseq_id = NC_000002
| genbank_id = CM000664
}}
[[Image:Chromosome2 merge.png|thumb|Fusion of ancestral chromosomes left distinctive remnants of telomeres, and a vestigial centromere]]
'''Chromosome 2''' is one of the 23 pairs of [[chromosome]]s in [[human]]s. People normally have two copies of this chromosome. Chromosome 2 is the second-largest human chromosome, spanning more than 242 million [[base pair]]s<ref name="Generation">{{cite journal | author=[[Ladeana Hillier|Hillier]] | title=Generation and annotation of the DNAD sequences of human chromosomes 2 and 4 | journal=Nature | year=2005 | pages=724–31 | volume=434 | issue=7034  | pmid=15815621 | doi=10.1038/nature03466 | last2=Graves | first2=TA | last3=Fulton | first3=RS | last4=Fulton | first4=LA | last5=Pepin | first5=KH | last6=Minx | first6=P | last7=Wagner-Mcpherson | first7=C | last8=Layman | first8=D | last9=Wylie | first9=K | last10=Sekhon | display-authors=1| bibcode=2005Natur.434..724H | last11=Becker | last12=Fewell | last13=Delehaunty | last14=Miner | last15=Nash | last16=Kremitzki | last17=Oddy | last18=Du | last19=Sun | last20=Bradshaw-Cordum | last21=Ali | last22=Carter | last23=Cordes | last24=Harris | last25=Isak | last26=Van Brunt | last27=Nguyen | last28=Du | last29=Courtney | last30=Kalicki }}</ref> (the building material of [[DNA]]) and representing almost 8% of the total DNA in human [[cell (biology)|cells]].

Chromosome 2 contains the HOXD [[homeobox]] gene cluster.<ref name=vega>[http://vega.sanger.ac.uk/Homo_sapiens/Location/View?db=core;g=OTTHUMG00000154173;r=2:176880740-177056400;region=AC009336.13.1.175667;t=OTTHUMT00000359252 Vega Homo sapiens genome browser: HoxD cluster on Chromosome 2]</ref>

==Evolution==
{{further|Chimpanzee genome project}}

All members of [[Hominidae]] except humans, [[Neanderthals]], and [[Denisovans]] have 24 pairs of chromosomes.<ref>{{cite journal |author=Meyer M, Kircher M, Gansauge MT, Li H, Racimo F, Mallick S, Schraiber JG, Jay F, Prüfer K, de Filippo C, Sudmant PH, Alkan C, Fu Q, Do R, Rohland N, Tandon A, Siebauer M, Green RE, Bryc K, Briggs AW, Stenzel U, Dabney J, Shendure J, Kitzman J, Hammer MF, Shunkov MV, Derevianko AP, Patterson N, Andrés AM, Eichler EE, Slatkin M, Reich D, Kelso J, Pääbo S |title=A high-coverage genome sequence from an archaic Denisovan individual |journal=Science |volume=338 |issue=6104 |pages=222–6 |date=October 2012 |pmid=22936568 |pmc=3617501 |doi=10.1126/science.1224344 |url=http://www.sciencemag.org/cgi/pmidlookup?view=long&pmid=22936568|last2=Kircher |last3=Gansauge |last4=Li |last5=Racimo |last6=Mallick |last7=Schraiber |last8=Jay |last9=Prüfer |last10=De Filippo |last11=Sudmant |last12=Alkan |last13=Fu |last14=Do |last15=Rohland |last16=Tandon |last17=Siebauer |last18=Green |last19=Bryc |last20=Briggs |last21=Stenzel |last22=Dabney |last23=Shendure |last24=Kitzman |last25=Hammer |last26=Shunkov |last27=Derevianko |last28=Patterson |last29=Andrés |last30=Eichler |display-authors=29 |bibcode=2012Sci...338..222M }}</ref> Humans have only 23 pairs of chromosomes. Human chromosome 2 is a result of an end-to-end fusion of two ancestral chromosomes.<ref name="fusion">[http://www.evolutionpages.com/chromosome_2.htm It has been hypothesized that Human Chromosome 2 is a fusion of two ancestral chromosomes] by Alec MacAndrew; accessed 18 May 2006.</ref><ref>[https://www.youtube.com/watch?v=x-WAHpC0Ah0 Evidence of Common Ancestry: Human Chromosome 2] (video) 2007</ref>

The evidence for this includes:

* The correspondence of chromosome 2 to two ape chromosomes. The closest human relative, the [[chimpanzee]], has near-identical DNA sequences to human chromosome 2, but they are found in two separate chromosomes. The same is true of the more distant [[gorilla]] and [[orangutan]].<ref name="compare">{{cite journal | author=Yunis and Prakash | title=The origin of man: a chromosomal pictorial legacy | journal=Science | year=1982 | pages=1525–30 | volume=215 | pmid=7063861 | doi=10.1126/science.7063861 | last2=Prakash | first2=O | issue=4539| bibcode=1982Sci...215.1525Y }}</ref><ref name="similarities">[http://www.gate.net/~rwms/hum_ape_chrom.html Human and Ape Chromosomes]; accessed 8 September 2007.</ref>
* The presence of a [[Vestigial structure|vestigial]] [[centromere]]. Normally a chromosome has just one centromere, but in chromosome 2 there are remnants of a second centromere in the q21.3–q22.1 region.<ref name="centromeres">{{cite journal | author=Avarello | title=Evidence for an ancestral alphoid domain on the long arm of human chromosome 2 | journal=Human Genetics | year=1992 | pages=247–9 | volume=89 | pmid=1587535 | doi=10.1007/BF00217134 | last2=Pedicini | first2=A | last3=Caiulo | first3=A | last4=Zuffardi | first4=O | last5=Fraccaro | first5=M | issue=2 | display-authors=1}}</ref>
* The presence of vestigial [[telomere]]s. These are normally found only at the ends of a chromosome, but in chromosome 2 there are additional telomere sequences in the q13 band, far from either end of the chromosome.<ref name="telomeres">{{cite journal | author=IJdo | title=Origin of human chromosome 2: an ancestral telomere-telomere fusion | journal=Proc. Natl. Acad. Sci. U.S.A. | year=1991 | pages=9051–5 | volume=88 | pmid=1924367 | doi=10.1073/pnas.88.20.9051 | last2=Baldini | first2=A | last3=Ward | first3=DC | last4=Reeders | first4=ST | last5=Wells | first5=RA | issue=20 | pmc=52649 | display-authors=1| bibcode=1991PNAS...88.9051I }}</ref>

According to researcher J. W. IJdo, "We conclude that the locus cloned in cosmids c8.1 and c29B is the relic of an ancient telomere-telomere fusion and marks the point at which two ancestral ape chromosomes fused to give rise to human chromosome 2." <ref name="telomeres"/>

==Genes==
{{Category see also|Genes on human chromosome 2}}

===Number of genes===
The following are some of the gene count estimates of human chromosome 2. Because researchers use different approaches to [[genome annotation]] their predictions of the [[number of genes]] on each chromosome vary (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://genomebiology.biomedcentral.com/articles/10.1186/gb-2010-11-5-206  }}</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]] || 1,194 || - || -
|style="text-align:center"| <ref name="CCDS">{{cite web | title=Search results - 2&#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=2%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]]|| 1,196 || 450 || 931
|style="text-align:center"| <ref name="HGNC20170512">{{cite web | title=Statistics & Downloads for chromosome 2 | website=HUGO Gene Nomenclature Committee | url=http://www.genenames.org/cgi-bin/statistics?c=2  |date=2017-05-12 | accessdate=2017-05-19}}</ref>
| 2017-05-12 
|-
| [[Ensembl genome database project|Ensembl]] || 1,292 || 1,598 || 1,029
|style="text-align:center"| <ref name="Ensembl Release 88">{{cite web | title=Chromosome 2: Chromosome summary - Homo sapiens | website= Ensembl Release 88 | url=http://mar2017.archive.ensembl.org/Homo_sapiens/Location/Chromosome?r=2 |date=2017-03-29 | accessdate=2017-05-19}}</ref>
| 2017-03-29 
|-
| [[National Center for Biotechnology Information|NCBI]] || 1,281 || 1,446|| 1,207
|style="text-align:center"| <ref name="NCBI coding">{{cite web | title=Search results - 2&#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=2%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 - 2&#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=2%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 - 2&#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=2%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 
|}

Some genes requiring arm identification:
* [[GEN1, Holliday junction 5' flap endonuclease|GEN1]] encoding [[protein]] GEN1, Holliday junction 5' flap endonuclease
* [[PARD3B]] encoding [[protein]] Partitioning defective 3 homolog B
* [[PARK3]] encoding [[protein]] Parkinson disease 3 (autosomal dominant, Lewy body)
* [[Testis specific 10|TSGA10]] encoding [[protein]] Testis specific 10

===p-arm===
The following are some of the genes located on p-arm (short arm) of human chromosome 2:
* [[ACTR2]]: encoding [[protein]] Actin-related protein 2
* [[ADI1]]: encoding [[enzyme]] 1,2-dihydroxy-3-keto-5-methylthiopentene dioxygenase
* [[AFF3]]: encoding [[protein]] AF4/FMR2 family member 3
* [[AFTPH]]: encoding [[protein]] Aftiphilin
* [[ALMS1]]
* [[ABCG5 and ABCG8]]: ATP-binding cassette, subfamily A, members 5 and 8
* [[C2orf18]]: encoding [[protein]] Transmembrane protein C2orf18
* [[C2orf28]]: encoding [[protein]] Apoptosis-related protein 3
* [[Macrophage-capping protein|CAPG]]: capping acting protein
* [[Coiled-Coil Domain Containing 142|CCDC142]]: Coiled-Coil Domain Containing 142
* [[CTLA4]]: cytotoxic T-Lymphocyte Antigen 4
* [[DHX57]]: DExH-box helicase 57
* [[DPYSL5]]: Dihydropyrimidinase like 5
* [[ERLEC1]]: Endoplasmic reticulum lectin 1
* [[EVA1A]]: encoding [[protein]] Eva-1 homolog A (C. elegans)
* [[FAM49A]]: Family with sequence similarity 49 member A
* [[FAM98A]]: Family with sequence similarity 98 member A
* [[FAM136A]]: Family with sequence similarity 136 member A
* [[FBXO11]]: F-box protein 11
* [[GFPT1]]: glutamine—fructose-6-phosphate transaminase 1
* [[GKN1]]: gastrokine 1
* [[GPATCH11]]: G-patch domain containing protein 11
* [[GTF2A1L]]: General transcription factor IIA subunit 1 like
* [[HADHA]]: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit
* [[HADHB]]: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit
* [[HSPC159]]: Galectin-related protein 
* [[LSL (gene)|LEPQTL1]]: Leptin, serum levels of
* [[MEMO1]]: Mediator of cell motility 1
* [[MPHOSPH10]]: M-phase phosphoprotein 10
* [[MSH2]]: mutS homolog 2, colon cancer, nonpolyposis type 1 (''[[E. coli]]'')
* [[MSH6]]: mutS homolog 6 (''[[E. coli]]'')
* [[MTHFD2]]: Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial 
* [[MTIF2]]: mitochondrial translational initiation factor 2
* [[NRBP1]]: Nuclear receptor-binding protein 1
* [[ODC1]]: Ornithine decarboxylase
* [[OTOF]]: otoferlin
* [[PCYOX1]]: prenylcysteine oxidase 1
* [[PELI1]]: [[Ubiquitin ligase]]
* [[PLGLB2]]: Plasminogen-related protein B
* [[POLR1A]]: DNA-directed RNA polymerase I subunit RPA1
* [[PREPL]]: Prolyl endopeptidase-like
* [[PXDN]]: Peroxidasin homolog
* [[QPCT]]: Glutaminyl-peptide cyclotransferase
* [[RETSAT]]: All-trans-retinol 13,14-reductase
* [[Sh3 and sylf domain containing 1|SH3YL1]]: SH3 and SYLF domain-containing 1
* [[TGOLN2]]: Trans-Golgi network integral membrane protein 2
* [[THADA (gene)|THADA]]: encoding [[protein]] Thyroid adenoma associated
* [[Tia1 cytotoxic granule-associated rna binding protein|TIA1]]: TIA1 cytotoxic granule-associated RNA binding protein
* [[TMEM150]]: Transmembrane protein 150A
* [[TP53I3]]: Putative quinone oxidoreducatse
* [[Thyroid peroxidase|TPO]]: thyroid peroxidase
* [[TTC7A]]: familial multiple intestinal atresia
* [[WBP1]]: WW domain-binding protein 1
* [[WDR35 (IFT121: TULP4)]]: intraflagellar transport 121

===q-arm===

The following are some of the genes located on q-arm (long arm) of human chromosome 2:
* [[ABCA12]]: ATP-binding cassette, sub-family A (ABC1), member 12
* [[ACTR1B]]: encoding [[protein]] Beta-centractin
* [[AGXT]]: alanine-glyoxylate aminotransferase (oxalosis I; hyperoxaluria I; glycolicaciduria; serine-pyruvate aminotransferase)
* [[ALS2]]: amyotrophic lateral sclerosis 2 (juvenile)
* [[ALS2CR8]]: encoding [[protein]] Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 8 protein also known as calcium-response factor (CaRF)
* [[ARMC9]]: encoding [[protein]] LisH domain-containing protein ARMC9
* [[B3GNT7]]: encoding [[protein]] UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7
* [[BMPR2]]: bone morphogenetic protein receptor, type II (serine/threonine kinase)
* [[CCDC88A]]: Coiled-coil domain-containing protein 88A
* [[CCDC93]]: Coiled-coil domain-containing protein 93
* [[CCDC138]]: Coiled-coil domain-containing protein 138
* [[CDCA7]]: Cell division cycle associated protein 1
* [[CHPF]]: Chondroitin sulfate synthase 2
* [[COL3A1]]: collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)
* [[COL4A3]]: collagen, type IV, alpha 3 (Goodpasture antigen)
* [[COL4A4]]: collagen, type IV, alpha 4
* [[COL5A2]]: collagen, type V, alpha 2
* [[DIS3L2]]: DIS3 mitotic control homolog-like 2
* [[ECEL1]]: Endothelin converting enzyme like 1
* [[Enhancer of polycomb homolog 2 (drosophila)|EPC2]]: Enhancer of polycomb homolog 2
* [[EPB41L5]]: encoding [[protein]] Erythrocyte membrane protein band 4.1 like 5
* [[ERICH2]]: encoding [[protein]] Glutamate rich protein 2
* [[FASTKD1]]: FAST kinase domain-containing protein 1
* [[IMP4]]: U3 small nucleolar ribonucleoprotein
* [[INPP1]]: Inositol polyphosphate 1-phosphatase
* [[INPP4A]]: inositol polyphosphate-4-phosphatase type A
* [[ITM2C]]: Integral membrane protein 2C
* [[KANSL3]]:  KAT8 regulatory NSL complex subunit 3
* [[KIAA1211L]]: Uncharacterized Protein KIAA1211- Like 
* [[LANCL1]]: LanC like 1
* [[MALL]]: MAL-like protein
* [[MGAT5]]: mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase
* [[NABP1]]: Nucleic acid binding protein 1
* [[Neuralized e3 ubiquitin protein ligase 3|NEURL3]]: encoding [[protein]] Neuralized E3 ubiquitin protein ligase 3
* [[Nucleolin|NCL]]: Nucleolin
* [[NR4A2]]: nuclear receptor subfamily 4, group A, member 2
* [[OLA1]]: Obg-like ATPase 1
* [[PAX3]]: paired box gene 3 (Waardenburg syndrome 1)
* [[PAX8]]: paired box gene 8
* [[POLR1B]]: DNA-directed RNA polymerase I subunit RPA2
* [[Proline-rich protein 21|PRR21]]: Proline-rich protein 21
* [[PRSS56]]: Putative serine protease 56
* [[RIF1]]: replication timing regulatory factor 1
* [[RNU4ATAC]]: RNA, U4atac small nuclear (U12-dependent splicing)
* [[60S ribosomal protein L37a|RPL37A]]: encoding [[protein]] 60S ribosomal protein L37a
* [[SATB2]]: [[Homeobox 2]]
* [[SDPR]]: Serum deprivation-response protein
* [[SGOL2]]: Shugoshin-like 2
* [[SH3BP4]]: SH3 domain-binding protein 4
* [[Solute carrier family 9 member a4|SLC9A4]]: solute carrier family 9 member A4
* [[SLC40A1]]: solute carrier family 40 (iron-regulated transporter), member 1
* [[SMPD4]]: Sphingomyelin phosphodiesterase 4
* [[SP140 (gene)|SP140]]: encoding [[protein]] SP140 nuclear body protein
* [[SPATS2L]]: spermatogenesis associated, serine-rich 2-like protein
* [[Sjogren syndrome antigen B|SSB]]: Sjogren syndrome antigen B
* [[SSFA2]]: Sperm-specific antigen 2
* [[TBR1]]: [[T-box]], [[brain]], 1
* [[THAP4]]: THAP domain-containing protein 4
* [[TMBIM1]]: Transmembrane BAX inhibitor motif-containing protein 1
* [[TNRC15]]: PERQ amino acid-rich with GYF domain-containing protein 2
* [[Titin|TTN]]: titin
* [[UBXD2]]: UBX domain-containing protein 4
* [[UXS1]]: UDP-glucuronic acid decarboxylase 1
* [[XIRP2]]: Xin actin-binding repeat-containing protein 2
* [[Zinc finger protein 142|ZNF142]]: zinc finger protein 142

== Related diseases and traits ==
{{refimprove section|date=September 2015}}
The following diseases and traits are related to genes located on chromosome 2:
{{div col |3}}
* [[2p15-16.1 microdeletion syndrome]]
* [[Autism]] 
* [[Alport syndrome]]
* [[Alström syndrome]]
* [[Amyotrophic lateral sclerosis]]
* [[Congenital hypothyroidism]]
* [[Crigler-Najjar]] types I/II
* [[Dementia with Lewy bodies]]
* [[Ehlers–Danlos syndrome]]
* [[Ehlers-Danlos syndrome, classical type|Ehlers–Danlos syndrome, classical type]]
* [[Ehlers-Danlos syndrome, vascular type|Ehlers–Danlos syndrome, vascular type]]
* [[Fibrodysplasia ossificans progressiva]]
* [[Gilbert's syndrome]]
* [[Harlequin type ichthyosis]]
* [[Hemochromatosis]]
* [[Hemochromatosis type 4]]
* [[Hereditary nonpolyposis colorectal cancer]]
* [[Infantile-onset ascending hereditary spastic paralysis]]
* [[Juvenile primary lateral sclerosis]]
* [[Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency]]
* [[Maturity onset diabetes of the young]] type 6
* [[Mitochondrial trifunctional protein deficiency]]
* [[Nonsyndromic deafness]]
* [[Primary hyperoxaluria]]
* [[Primary pulmonary hypertension]]
* [[Sitosterolemia]] (knockout of either ABCG5 or ABCG8)
* [[Sensenbrenner syndrome]]
* [[Synesthesia]]
* [[Waardenburg syndrome]]
{{div col end}}

==Cytogenetic band==
{{multiple image
 | header = G-banding ideograms of human chromosome 2 
 | total_width = 400
 | image1 = Human chromosome 2 ideogram vertical.svg
 | width1 = 216
 | height1= 1125
 | caption1 = G-banding ideogram of human chromosome 2 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 02 - 400 550 850 bphs.png
 | width2 = 1003
 | height2= 2801
 | caption2 = G-banding patterns of human chromosome 2 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 2 in resolution 850 bphs<ref name="850bphs"/>
! 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
|-
| 2 || p 
|style="text-align:left"| 25.3 || 0 || 388 || {{val|1|fmt=commas}} || {{val|4,400,000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 2 || p 
|style="text-align:left"| 25.2 || 388 || 566 || {{val|4400001|fmt=commas}} || {{val|6900000|fmt=commas}} 
|style="background:#979797"| gpos || 50
|-
| 2 || p 
|style="text-align:left"| 25.1 || 566 || 954 || {{val|6900001|fmt=commas}} || {{val|12000000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 2 || p 
|style="text-align:left"| 24.3 || 954 || 1193 || {{val|12000001|fmt=commas}} || {{val|16500000|fmt=commas}} 
|style="background:#636363; color:white;"| gpos || 75
|-
| 2 || p 
|style="text-align:left"| 24.2 || 1193 || 1312 || {{val|16500001|fmt=commas}} || {{val|19000000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 2 || p 
|style="text-align:left"| 24.1 || 1312 || 1565 || {{val|19000001|fmt=commas}} || {{val|23800000|fmt=commas}} 
|style="background:#636363; color:white;"| gpos || 75
|-
| 2 || p 
|style="text-align:left"| 23.3 || 1565 || 1789 || {{val|23800001|fmt=commas}} || {{val|27700000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 2 || p 
|style="text-align:left"| 23.2 || 1789 || 1908 || {{val|27700001|fmt=commas}} || {{val|29800000|fmt=commas}} 
|style="background:#d9d9d9"| gpos || 25
|-
| 2 || p 
|style="text-align:left"| 23.1 || 1908 || 2027 || {{val|29800001|fmt=commas}} || {{val|31800000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 2 || p 
|style="text-align:left"| 22.3 || 2027 || 2296 || {{val|31800001|fmt=commas}} || {{val|36300000|fmt=commas}} 
|style="background:#636363; color:white;"| gpos || 75
|-
| 2 || p 
|style="text-align:left"| 22.2 || 2296 || 2415 || {{val|36300001|fmt=commas}} || {{val|38300000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 2 || p 
|style="text-align:left"| 22.1 || 2415 || 2609 || {{val|38300001|fmt=commas}} || {{val|41500000|fmt=commas}} 
|style="background:#979797"| gpos || 50
|-
| 2 || p 
|style="text-align:left"| 21 || 2609 || 2966 || {{val|41500001|fmt=commas}} || {{val|47500000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 2 || p 
|style="text-align:left"| 16.3 || 2966 || 3220 || {{val|47500001|fmt=commas}} || {{val|52600000|fmt=commas}} 
|style="background:black; color:white;"| gpos || 100
|-
| 2 || p 
|style="text-align:left"| 16.2 || 3220 || 3294 || {{val|52600001|fmt=commas}} || {{val|54700000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 2 || p 
|style="text-align:left"| 16.1 || 3294 || 3548 || {{val|54700001|fmt=commas}} || {{val|61000000|fmt=commas}} 
|style="background:black; color:white;"| gpos || 100
|-
| 2 || p 
|style="text-align:left"| 15 || 3548 || 3757 || {{val|61000001|fmt=commas}} || {{val|63900000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 2 || p 
|style="text-align:left"| 14 || 3757 || 3935 || {{val|63900001|fmt=commas}} || {{val|68400000|fmt=commas}} 
|style="background:#979797"| gpos || 50
|-
| 2 || p 
|style="text-align:left"| 13.3 || 3935 || 4114 || {{val|68400001|fmt=commas}} || {{val|71300000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 2 || p 
|style="text-align:left"| 13.2 || 4114 || 4248 || {{val|71300001|fmt=commas}} || {{val|73300000|fmt=commas}} 
|style="background:#979797"| gpos || 50
|-
| 2 || p 
|style="text-align:left"| 13.1 || 4248 || 4353 || {{val|73300001|fmt=commas}} || {{val|74800000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 2 || p 
|style="text-align:left"| 12 || 4353 || 4860 || {{val|74800001|fmt=commas}} || {{val|83100000|fmt=commas}} 
|style="background:black; color:white;"| gpos || 100
|-
| 2 || p 
|style="text-align:left"| 11.2 || 4860 || 5307 || {{val|83100001|fmt=commas}} || {{val|91800000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 2 || p 
|style="text-align:left"| 11.1 || 5307 || 5545 || {{val|91800001|fmt=commas}} || {{val|93900000|fmt=commas}} 
|style="background:#6e7f8f; color:white;"| acen || 
|-
| 2 || q 
|style="text-align:left"| 11.1 || 5545 || 5724 || {{val|93900001|fmt=commas}} || {{val|96000000|fmt=commas}} 
|style="background:#6e7f8f; color:white;"| acen || 
|-
| 2 || q 
|style="text-align:left"| 11.2 || 5724 || 6022 || {{val|96000001|fmt=commas}} || {{val|102100000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 2 || q 
|style="text-align:left"| 12.1 || 6022 || 6261 || {{val|102100001|fmt=commas}} || {{val|105300000|fmt=commas}} 
|style="background:#979797"| gpos || 50
|-
| 2 || q 
|style="text-align:left"| 12.2 || 6261 || 6395 || {{val|105300001|fmt=commas}} || {{val|106700000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 2 || q 
|style="text-align:left"| 12.3 || 6395 || 6559 || {{val|106700001|fmt=commas}} || {{val|108700000|fmt=commas}} 
|style="background:#d9d9d9"| gpos || 25
|-
| 2 || q 
|style="text-align:left"| 13 || 6559 || 6812 || {{val|108700001|fmt=commas}} || {{val|112200000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 2 || q 
|style="text-align:left"| 14.1 || 6812 || 7036 || {{val|112200001|fmt=commas}} || {{val|118100000|fmt=commas}} 
|style="background:#979797"| gpos || 50
|-
| 2 || q 
|style="text-align:left"| 14.2 || 7036 || 7334 || {{val|118100001|fmt=commas}} || {{val|121600000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 2 || q 
|style="text-align:left"| 14.3 || 7334 || 7602 || {{val|121600001|fmt=commas}} || {{val|129100000|fmt=commas}} 
|style="background:#979797"| gpos || 50
|-
| 2 || q 
|style="text-align:left"| 21.1 || 7602 || 7826 || {{val|129100001|fmt=commas}} || {{val|131700000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 2 || q 
|style="text-align:left"| 21.2 || 7826 || 8050 || {{val|131700001|fmt=commas}} || {{val|134300000|fmt=commas}} 
|style="background:#d9d9d9"| gpos || 25
|-
| 2 || q 
|style="text-align:left"| 21.3 || 8050 || 8169 || {{val|134300001|fmt=commas}} || {{val|136100000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 2 || q 
|style="text-align:left"| 22.1 || 8169 || 8437 || {{val|136100001|fmt=commas}} || {{val|141500000|fmt=commas}} 
|style="background:black; color:white;"| gpos || 100
|-
| 2 || q 
|style="text-align:left"| 22.2 || 8437 || 8497 || {{val|141500001|fmt=commas}} || {{val|143400000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 2 || q 
|style="text-align:left"| 22.3 || 8497 || 8646 || {{val|143400001|fmt=commas}} || {{val|147900000|fmt=commas}} 
|style="background:black; color:white;"| gpos || 100
|-
| 2 || q 
|style="text-align:left"| 23.1 || 8646 || 8735 || {{val|147900001|fmt=commas}} || {{val|149000000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 2 || q 
|style="text-align:left"| 23.2 || 8735 || 8795 || {{val|149000001|fmt=commas}} || {{val|149600000|fmt=commas}} 
|style="background:#d9d9d9"| gpos || 25
|-
| 2 || q 
|style="text-align:left"| 23.3 || 8795 || 9078 || {{val|149600001|fmt=commas}} || {{val|154000000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 2 || q 
|style="text-align:left"| 24.1 || 9078 || 9361 || {{val|154000001|fmt=commas}} || {{val|158900000|fmt=commas}} 
|style="background:#636363; color:white;"| gpos || 75
|-
| 2 || q 
|style="text-align:left"| 24.2 || 9361 || 9585 || {{val|158900001|fmt=commas}} || {{val|162900000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 2 || q 
|style="text-align:left"| 24.3 || 9585 || 9928 || {{val|162900001|fmt=commas}} || {{val|168900000|fmt=commas}} 
|style="background:#636363; color:white;"| gpos || 75
|-
| 2 || q 
|style="text-align:left"| 31.1 || 9928 || 10435 || {{val|168900001|fmt=commas}} || {{val|177100000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 2 || q 
|style="text-align:left"| 31.2 || 10435 || 10599 || {{val|177100001|fmt=commas}} || {{val|179700000|fmt=commas}} 
|style="background:#979797"| gpos || 50
|-
| 2 || q 
|style="text-align:left"| 31.3 || 10599 || 10733 || {{val|179700001|fmt=commas}} || {{val|182100000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 2 || q 
|style="text-align:left"| 32.1 || 10733 || 11091 || {{val|182100001|fmt=commas}} || {{val|188500000|fmt=commas}} 
|style="background:#636363; color:white;"| gpos || 75
|-
| 2 || q 
|style="text-align:left"| 32.2 || 11091 || 11225 || {{val|188500001|fmt=commas}} || {{val|191100000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 2 || q 
|style="text-align:left"| 32.3 || 11225 || 11538 || {{val|191100001|fmt=commas}} || {{val|196600000|fmt=commas}} 
|style="background:#636363; color:white;"| gpos || 75
|-
| 2 || q 
|style="text-align:left"| 33.1 || 11538 || 11925 || {{val|196600001|fmt=commas}} || {{val|202500000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 2 || q 
|style="text-align:left"| 33.2 || 11925 || 12060 || {{val|202500001|fmt=commas}} || {{val|204100000|fmt=commas}} 
|style="background:#979797"| gpos || 50
|-
| 2 || q 
|style="text-align:left"| 33.3 || 12060 || 12283 || {{val|204100001|fmt=commas}} || {{val|208200000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 2 || q 
|style="text-align:left"| 34 || 12283 || 12641 || {{val|208200001|fmt=commas}} || {{val|214500000|fmt=commas}} 
|style="background:black; color:white;"| gpos || 100
|-
| 2 || q 
|style="text-align:left"| 35 || 12641 || 13014 || {{val|214500001|fmt=commas}} || {{val|220700000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 2 || q 
|style="text-align:left"| 36.1 || 13014 || 13237 || {{val|220700001|fmt=commas}} || {{val|224300000|fmt=commas}} 
|style="background:#636363; color:white;"| gpos || 75
|-
| 2 || q 
|style="text-align:left"| 36.2 || 13237 || 13297 || {{val|224300001|fmt=commas}} || {{val|225200000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 2 || q 
|style="text-align:left"| 36.3 || 13297 || 13595 || {{val|225200001|fmt=commas}} || {{val|230100000|fmt=commas}} 
|style="background:black; color:white;"| gpos || 100
|-
| 2 || q 
|style="text-align:left"| 37.1 || 13595 || 13893 || {{val|230100001|fmt=commas}} || {{val|234700000|fmt=commas}} 
| style="background:white"| gneg || 
|-
| 2 || q 
|style="text-align:left"| 37.2 || 13893 || 13998 || {{val|234700001|fmt=commas}} || {{val|236400000|fmt=commas}} 
|style="background:#979797"| gpos || 50
|-
| 2 || q 
|style="text-align:left"| 37.3 || 13998 || 14400 || {{val|236400001|fmt=commas}} || {{val|242193529|fmt=commas}} 
| style="background:white"| gneg || 
|}

==References==
{{reflist|30em}}

==External links==
{{Commons category|Human chromosome 2}}
* {{cite web | author= National Institutes of Health  | title= Chromosome 2 | work= Genetics Home Reference | url= http://ghr.nlm.nih.gov/chromosome=2| accessdate=2017-05-06}}
* {{Cite web|url=http://web.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/chromo02.shtml|title=Chromosome 2|website=Human Genome Project Information Archive 1990–2003|access-date=2017-05-06}}

{{Chromosomes}}
{{Chromosome genetics}}

{{DEFAULTSORT:Chromosome 02 (Human)}}
[[Category:Chromosomes (human)]]
[[Category:Human evolution]]
[[Category:Genes on human chromosome 2|*]]