Chromosome 20

Last updated
Chromosome 20
Human male karyotpe high resolution - Chromosome 20 cropped.png
Human chromosome 20 pair after G-banding.
One is from mother, one is from father.
Human male karyotpe high resolution - Chromosome 20.png
Chromosome 20 pair
in human male karyogram.
Features
Length (bp)66,210,255 bp
(CHM13)
No. of genes 516 (CCDS) [1]
Type Autosome
Centromere position Metacentric [2]
(28.1 Mbp [3] )
Complete gene lists
CCDS Gene list
HGNC Gene list
UniProt Gene list
NCBI Gene list
External map viewers
Ensembl Chromosome 20
Entrez Chromosome 20
NCBI Chromosome 20
UCSC Chromosome 20
Full DNA sequences
RefSeq NC_000020 (FASTA)
GenBank CM000682 (FASTA)

Chromosome 20 is one of the 23 pairs of chromosomes in humans. Chromosome 20 spans around 66 million base pairs (the building material of DNA) and represents between 2 and 2.5 percent of the total DNA in cells. Chromosome 20 was fully sequenced in 2001 and was reported to contain over 59 million base pairs. [4] Since then, due to sequencing improvements and fixes, the length of chromosome 20 has been updated to just over 66 million base pairs. [5]

Contents

Genes

Number of genes

The following are some of the gene count estimates of human chromosome 20. 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 (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. [6]

Estimated by Protein-coding genes Non-coding RNA genes Pseudogenes SourceRelease date
CCDS 516—— [1] 2016-09-08
HGNC 519191297 [7] 2017-05-12
Ensembl 540594247 [8] 2017-03-29
UniProt 550—— [9] 2018-02-28
NCBI 555487333 [10] [11] [12] 2017-05-19

Gene list

The following is a partial list of genes on human chromosome 20. For complete list, see the link in the infobox on the right.

  • ADA: Adenosine Deaminase (Adenosine Deaminase Deficiency)
  • ANDP: encoding protein Activity-dependent neuroprotector homeobox
  • AHCY: S-adenosylhomocysteine hydrolase
  • APMAP: encoding protein Adipocyte plasma membrane-associated protein
  • ARFGEF2: ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
  • BCAS1: Breast carcinoma-amplified sequence 1
  • BLCAP: Bladder cancer associated protein
  • BMP2: Bone Morphogenetic Protein 2 (osteoblast differentiation)
  • BPIFB1: encoding protein BPI fold containing family B, member 1
  • BPIFB2: encoding protein BPI fold containing family B, member 2
  • BPIFB3: encoding protein BPI fold containing family B, member 3
  • BPIFB4: encoding protein BPI fold containing family B, member 4
  • BPIFB5P: non-coding pseudogene of the BPI fold containing family
  • BPIFB6: encoding protein BPI fold containing family B, member 6
  • C20orf27: encoding protein UPF0687 protein C20orf27
  • CSRP2BP: encoding protein CSRP2 binding protein
  • CST9L: Cystatin-9-like
  • CSTL1: Cystatin-like 1
  • CTCFL: CCCTC-binding factor-like
  • CTNNBL1: Beta-catenin-like protein 1
  • DBNDD2: Dysbindin domain-containing protein 2
  • DDX27: DEAD box polypeptide 27
  • DEFB118, DEFB119, DEFB126, DEFB127, DEFB129: Beta-defensin genes
  • DLGAP4: Disks large-associated protein 4
  • DNAJC5: Cysteine string protein
  • EDEM2: ER degradation-enhancing alpha-mannosidase-like 2
  • EDN3: endothelin 3
  • ENTPD6: Ectonucleoside triphosphate diphosphohydrolase 6
  • ESF1: ESF1 nucleolar pre-rRNA processing protein homolog
  • FAM210B: encoding protein FAM210B
  • FASTKD5: encoding protein FAST kinase domain-containing protein 5 (FASTKD5)
  • FITM2: encoding protein Fat storage-inducing transmembrane protein 2
  • GZF1: encoding protein GDNF-inducible zinc finger protein 1
  • GMEB2: Glucocorticoid modulatory element-binding protein 2
  • GNAS1: Gs alpha subunit (membrane G-protein)
  • GSS: glutathione synthetase
  • ITPA: encoding enzyme Inosine triphosphate pyrophosphatase
  • JAG1: jagged 1 (Alagille syndrome)
  • JPH2: encoding protein Junctophilin 2
  • KIZ: encoding protein Kizuna centrosomal protein
  • Kua-UEV:
  • LIME1: encoding protein Lck-interacting transmembrane adapter 1
  • LZTS3: encoding protein Leucine zipper, putative tumor suppressor family member 3
  • MROH8: encoding protein maestro heat like repeat family member 8
  • NAPB: encoding protein Beta-soluble NSF attachment protein
  • NDUFAF5: encoding protein NADH:ubiquinone oxidoreductase complex assembly factor 5
  • Nnat: encoding protein Neuronatin
  • NOL5A: encoding protein Nucleolar protein 56
  • NRSN2: encoding protein Neurensin-2
  • OTOR: encoding protein Otoraplin
  • PANK2: pantothenate kinase 2 (pantothenate kinase-associated neurodegeneration)
  • PKIG: encoding protein cAMP-dependent protein kinase inhibitor gamma
  • PLAGL2: encoding protein Zinc finger protein PLAGL2
  • POLR3F: encoding enzyme DNA-directed RNA polymerase III subunit RPC6
  • PRIC285:
  • PRNP: prion protein (p27-30) (Creutzfeldt–Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)
  • PXMP4: encoding protein Peroxisomal membrane protein 4
  • R3HDML: encoding protein R3H domain containing-like
  • RTF2: encoding protein RTF2 homolog
  • SALL4: sal-like 4 (Drosophila)
  • SERINC3: encoding protein Serine incorporator 3
  • SHLD1: encoding protein Shieldin complex subunit 1
  • SLC17A9: encoding protein Solute carrier family 17 member 9
  • SLC2A4RG: encoding protein SLC2A4 regulator
  • SLX4IP: encoding protein SLX4 interacting protein
  • SPATA2: encoding protein Spermatogenesis-associated protein 2
  • SPEF1: encoding protein Sperm flagellar protein 1
  • SRXN1: encoding protein Sulfiredoxin-1
  • STAU1: encoding protein Double-stranded RNA-binding protein Staufen homolog 1
  • STK35L1: encoding protein STK35L1
  • SUN5: encoding protein SUN domain-containing protein 5
  • TASP1: encoding enzyme Threonine aspartase 1
  • tTG: tissue transglutaminase (auto antigen of Celiac disease)
  • TMEPAI: encoding protein Transmembrane prostate androgen-induced protein
  • TTPAL: encoding protein Tocopherol (alpha) transfer protein-like
  • UCKL1: encoding enzyme Uridine-cytidine kinase-like 1
  • UQCC: encoding enzyme Ubiquinol-cytochrome c reductase complex chaperone CBP3 homolog
  • VAPB: VAMP (vesicle-associated membrane protein)-associated protein B and C
  • YTHDF1: encoding protein YTH domain family, member 1
  • ZFP64 encoding protein Zinc finger protein 64 homolog, isoforms 1 and 2
  • ZGPAT: encoding protein Zinc finger CCCH-type with G patch domain-containing protein
  • ZHX3: encoding protein Zinc fingers and homeoboxes protein 3
  • ZNF334: encoding protein Zinc finger protein 334
  • ZNF343: encoding protein Zinc finger protein 343
  • ZSWIM3: encoding protein Zinc finger SWIM-type containing 3
  • ZMYND8: encoding enzyme Protein kinase C-binding protein 1
  • ZNF133: encoding protein Zinc finger protein 133

Diseases and disorders

The following diseases are some of those related to genes on chromosome 20: [13]

Cytogenetic band

G-banding ideograms of human chromosome 20
Human chromosome 20 ideogram vertical.svg
G-banding ideogram of human chromosome 20 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).
Human chromosome 20 - 400 550 850 bphs.png
G-banding patterns of human chromosome 20 in three different resolutions (400, [14] 550 [15] and 850 [3] ). Band length in this diagram is based on the ideograms from ISCN (2013). [16] This type of ideogram represents actual relative band length observed under a microscope at the different moments during the mitotic process. [17]
G-bands of human chromosome 20 in resolution 850 bphs [18]
Chr.Arm [19] Band [20] ISCN
start [21] 		ISCN
stop [21] 		Basepair
start		Basepair
stop		Stain [22] Density
20p13033315,100,000gneg
20p12.33335135,100,0019,200,000gpos75
20p12.25136249,200,00112,000,000gneg
20p12.162491512,000,00117,900,000gpos75
20p11.23915116417,900,00121,300,000gneg
20p11.221164127521,300,00122,300,000gpos25
20p11.211275144122,300,00125,700,000gneg
20p11.11441160825,700,00128,100,000acen
20q11.11608177428,100,00130,400,000acen
20q11.211774192730,400,00133,500,000gneg
20q11.221927205133,500,00135,800,000gpos25
20q11.232051223235,800,00139,000,000gneg
20q122232243939,000,00143,100,000gpos75
20q13.112439257843,100,00143,500,000gneg
20q13.122578275843,500,00147,800,000gpos25
20q13.132758307747,800,00151,200,000gneg
20q13.23077329951,200,00156,400,000gpos75
20q13.313299338256,400,00157,800,000gneg
20q13.323382349357,800,00159,700,000gpos50
20q13.333493377059,700,00164,444,167gneg

Related Research Articles

<span class="mw-page-title-main">Chromosome 1</span> Human chromosome

Chromosome 1 is the designation for the largest human chromosome. Humans have two copies of chromosome 1, as they do with all of the autosomes, which are the non-sex chromosomes. Chromosome 1 spans about 249 million nucleotide base pairs, which are the basic units of information for DNA. It represents about 8% of the total DNA in human cells.

<span class="mw-page-title-main">Chromosome 6</span> Human chromosome

Chromosome 6 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 6 spans more than 172 million base pairs and represents between 5.5 and 6% of the total DNA in cells. It contains the major histocompatibility complex, which contains over 100 genes related to the immune response, and plays a vital role in organ transplantation.

<span class="mw-page-title-main">Chromosome 13</span> Human chromosome

Chromosome 13 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 13 spans about 113 million base pairs and represents between 3.5 and 4% of the total DNA in cells.

<span class="mw-page-title-main">Chromosome 22</span> Human chromosome

Chromosome 22 is one of the 23 pairs of chromosomes in human cells. Humans normally have two copies of chromosome 22 in each cell. Chromosome 22 is the second smallest human chromosome, spanning about 51 million DNA base pairs and representing between 1.5 and 2% of the total DNA in cells.

<span class="mw-page-title-main">Chromosome 2</span> Human chromosome

Chromosome 2 is one of the twenty-three pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 2 is the second-largest human chromosome, spanning more than 242 million base pairs and representing almost eight percent of the total DNA in human cells.

<span class="mw-page-title-main">Chromosome 3</span> Human chromosome

Chromosome 3 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 3 spans almost 200 million base pairs and represents about 6.5 percent of the total DNA in cells.

<span class="mw-page-title-main">Chromosome 4</span> Human chromosome

Chromosome 4 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 4 spans more than 193 million base pairs and represents between 6 and 6.5 percent of the total DNA in cells.

<span class="mw-page-title-main">Chromosome 5</span> Human chromosome

Chromosome 5 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 5 spans about 182 million base pairs and represents almost 6% of the total DNA in cells. Chromosome 5 is the 5th largest human chromosome, yet has one of the lowest gene densities. This is partially explained by numerous gene-poor regions that display a remarkable degree of non-coding and syntenic conservation with non-mammalian vertebrates, suggesting they are functionally constrained.

<span class="mw-page-title-main">Chromosome 7</span> Human chromosome

Chromosome 7 is one of the 23 pairs of chromosomes in humans, who normally have two copies of this chromosome. Chromosome 7 spans about 160 million base pairs and represents between 5 and 5.5 percent of the total DNA in cells.

<span class="mw-page-title-main">Chromosome 8</span> Human chromosome

Chromosome 8 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 8 spans about 146 million base pairs and represents between 4.5 and 5.0% of the total DNA in cells.

<span class="mw-page-title-main">Chromosome 9</span> Human chromosome

Chromosome 9 is one of the 23 pairs of chromosomes in humans. Humans normally have two copies of this chromosome, as they normally do with all chromosomes. Chromosome 9 spans about 150 million base pairs of nucleic acids and represents between 4.0 and 4.5% of the total DNA in cells.

<span class="mw-page-title-main">Chromosome 10</span> Human chromosome

Chromosome 10 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 10 spans about 134 million base pairs and represents between 4 and 4.5 percent of the total DNA in cells.

<span class="mw-page-title-main">Chromosome 11</span> Human chromosome

Chromosome 11 is one of the 23 pairs of chromosomes in humans. Humans normally have two copies of this chromosome. Chromosome 11 spans about 135 million base pairs and represents between 4 and 4.5 percent of the total DNA in cells. The shorter arm is termed 11p while the longer arm is 11q. At about 21.5 genes per megabase, chromosome 11 is one of the most gene-rich, and disease-rich, chromosomes in the human genome.

<span class="mw-page-title-main">Chromosome 12</span> Human chromosome

Chromosome 12 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 12 spans about 133 million base pairs and represents between 4 and 4.5 percent of the total DNA in cells.

<span class="mw-page-title-main">Chromosome 14</span> Human chromosome

Chromosome 14 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 14 spans about 101 million base pairs and represents between 3 and 3.5% of the total DNA in cells.

<span class="mw-page-title-main">Chromosome 15</span> Human chromosome

Chromosome 15 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 15 spans about 99.7 million base pairs and represents between 3% and 3.5% of the total DNA in cells. Chromosome 15 is an acrocentric chromosome, with a very small short arm, which contains few protein coding genes among its 19 million base pairs. It has a larger long arm that is gene rich, spanning about 83 million base pairs.

<span class="mw-page-title-main">Chromosome 16</span> Human chromosome

Chromosome 16 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 16 spans about 96 million base pairs and represents just under 3% of the total DNA in cells.

<span class="mw-page-title-main">Chromosome 17</span> Human chromosome

Chromosome 17 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 17 spans more than 84 million base pairs and represents between 2.5 and 3% of the total DNA in cells.

<span class="mw-page-title-main">Chromosome 18</span> Human chromosome

Chromosome 18 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 18 spans about 80 million base pairs and represents about 2.5 percent of the total DNA in cells.

<span class="mw-page-title-main">Chromosome 19</span> Human chromosome

Chromosome 19 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 19 spans more than 61.7 million base pairs, the building material of DNA. It is considered the most gene-rich chromosome containing roughly 1,500 genes, despite accounting for only 2 percent of the human genome.

References

  1. 1 2 "Search results - 20[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene". NCBI. CCDS Release 20 for Homo sapiens. 2016-09-08. Retrieved 2017-05-28.
  2. ↑ Tom Strachan; Andrew Read (2 April 2010). Human Molecular Genetics. Garland Science. p. 45. ISBN   978-1-136-84407-2.
  3. 1 2 Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
  4. ↑ Deloukas P; et al. (2001). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–871. Bibcode:2001Natur.414..865D. doi: 10.1038/414865a . PMID   11780052.
  5. ↑ "Homo sapiens chromosome 20, GRCh37.p13 Primary Assembly". National Center for Biotechnology Information. Retrieved October 17, 2013.
  6. ↑ 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.
  7. ↑ "Statistics & Downloads for chromosome 20". HUGO Gene Nomenclature Committee. 2017-05-12. Retrieved 2017-05-19.
  8. ↑ "Chromosome 20: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19.
  9. ↑ "Human chromosome 20: entries, gene names and cross-references to MIM". UniProt. 2018-02-28. Retrieved 2018-03-16.
  10. ↑ "Search results - 20[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20.
  11. ↑ "Search results - 20[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. Retrieved 2017-05-20.
  12. ↑ "Search results - 20[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20.
  13. ↑ Gilbert F (1997). "Disease genes and chromosomes: disease maps of the human genome". Genet Test. 1 (3): 225–229. doi:10.1089/gte.1997.1.225. PMID   10464650.
  14. ↑ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3). Last update 2014-03-04. Retrieved 2017-04-26.
  15. ↑ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3). Last update 2015-08-11. Retrieved 2017-04-26.
  16. ↑ International Standing Committee on Human Cytogenetic Nomenclature (2013). ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013). Karger Medical and Scientific Publishers. ISBN   978-3-318-02253-7.
  17. ↑ Sethakulvichai, W.; Manitpornsut, S.; Wiboonrat, M.; Lilakiatsakun, W.; Assawamakin, A.; Tongsima, S. (2012). "Estimation of band level resolutions of human chromosome images". In Computer Science and Software Engineering (JCSSE), 2012 International Joint Conference on: 276–282. doi:10.1109/JCSSE.2012.6261965. ISBN   978-1-4673-1921-8. S2CID   16666470.
  18. ↑ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
  19. ↑ "p": Short arm; "q": Long arm.
  20. ↑ For cytogenetic banding nomenclature, see article locus.
  21. 1 2 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.
  22. ↑ gpos: Region which is positively stained by G banding, generally AT-rich and gene poor; gneg: Region which is negatively stained by G banding, generally CG-rich and gene rich; acen Centromere. var: Variable region; stalk: Stalk.
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