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Chromosome 20

chromosome 20, chromosome 20 genes
Chromosome 20 is one of the 23 pairs of chromosomes in humans Chromosome 20 spans around 63 million base pairs the building material of DNA and represents between 2 and 25 percent of the total DNA in cells Chromosome 20 was fully sequenced in 2001 and was reported to contain over 59 million base pairs representing 994% of the euchromatic DNA[5] Since then, due to sequencing improvements and fixes, the length of chromosome 20 has been updated to just over 63 million base pairs[6]

Contents

  • 1 Genes
    • 11 Number of genes
    • 12 Gene list
  • 2 Diseases and disorders
  • 3 Cytogenetic band
  • 4 References
  • 5 External links

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[7]

Estimated by Protein-coding genes Non-coding RNA genes Pseudogenes Source Release date
CCDS 516 - - [2] 2016-09-08
HGNC 519 191 297 [8] 2017-05-12
Ensembl 540 594 247 [9] 2017-03-29
UniProt 550 - - [10] 2018-02-28
NCBI 555 487 333 [11][12][13] 2017-05-19

Gene list

See also: Category:Genes on human chromosome 20

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
  • 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
  • BPIFB4: encoding protein BPI fold containing family B, member 4
  • C20orf132: encoding protein Uncharacterized protein C20orf132
  • C20orf27: encoding protein UPF0687 protein C20orf27
  • C20orf3: encoding protein Adipocyte plasma membrane-associated protein
  • C20orf43: encoding protein UPF0549 protein C20orf43
  • 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
  • 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
  • NAPB: encoding protein Beta-soluble NSF attachment protein
  • 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
  • SALL4: sal-like 4 Drosophila
  • SERINC3: encoding protein Serine incorporator 3
  • 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:[14]

  • Albright's hereditary osteodystrophy
  • Arterial tortuosity syndrome
  • Adenosine deaminase deficiency
  • Alagille syndrome
  • Fatal familial insomnia
  • Galactosialidosis - CTSA
  • Maturity onset diabetes of the young type 1
  • Neuronal ceroid lipofuscinosis
  • Pantothenate kinase-associated neurodegeneration
  • Transmissible spongiform encephalopathy prion diseases
  • Waardenburg syndrome

Cytogenetic band

G-banding ideograms of human chromosome 20G-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 eg Ensembl, UCSC Genome BrowserG-banding patterns of human chromosome 20 in three different resolutions 400,[15] 550[16] and 850[4] Band length in this diagram is based on the ideograms from ISCN 2013[17] This type of ideogram represents actual relative band length observed under a microscope at the different moments during the mitotic process[18] G-bands of human chromosome 20 in resolution 850 bphs[19]
Chr Arm[20] Band[21] ISCN
start[22]
ISCN
stop[22]
Basepair
start
Basepair
stop
Stain[23] Density
20 p 13 0 333 7000100000000000000♠1 7006510000000000000♠5,100,000 gneg
20 p 123 333 513 7006510000100000000♠5,100,001 7006920000000000000♠9,200,000 gpos 75
20 p 122 513 624 7006920000100000000♠9,200,001 7007120000000000000♠12,000,000 gneg
20 p 121 624 915 7007120000010000000♠12,000,001 7007179000000000000♠17,900,000 gpos 75
20 p 1123 915 1164 7007179000010000000♠17,900,001 7007213000000000000♠21,300,000 gneg
20 p 1122 1164 1275 7007213000010000000♠21,300,001 7007223000000000000♠22,300,000 gpos 25
20 p 1121 1275 1441 7007223000010000000♠22,300,001 7007257000000000000♠25,700,000 gneg
20 p 111 1441 1608 7007257000010000000♠25,700,001 7007281000000000000♠28,100,000 acen
20 q 111 1608 1774 7007281000010000000♠28,100,001 7007304000000000000♠30,400,000 acen
20 q 1121 1774 1927 7007304000010000000♠30,400,001 7007335000000000000♠33,500,000 gneg
20 q 1122 1927 2051 7007335000010000000♠33,500,001 7007358000000000000♠35,800,000 gpos 25
20 q 1123 2051 2232 7007358000010000000♠35,800,001 7007390000000000000♠39,000,000 gneg
20 q 12 2232 2439 7007390000010000000♠39,000,001 7007431000000000000♠43,100,000 gpos 75
20 q 1311 2439 2578 7007431000010000000♠43,100,001 7007435000000000000♠43,500,000 gneg
20 q 1312 2578 2758 7007435000010000000♠43,500,001 7007478000000000000♠47,800,000 gpos 25
20 q 1313 2758 3077 7007478000010000000♠47,800,001 7007512000000000000♠51,200,000 gneg
20 q 132 3077 3299 7007512000010000000♠51,200,001 7007564000000000000♠56,400,000 gpos 75
20 q 1331 3299 3382 7007564000010000000♠56,400,001 7007578000000000000♠57,800,000 gneg
20 q 1332 3382 3493 7007578000010000000♠57,800,001 7007597000000000000♠59,700,000 gpos 50
20 q 1333 3493 3770 7007597000010000000♠59,700,001 7007644441670000000♠64,444,167 gneg

References

  1. ^ "Human Genome Assembly GRCh38 - Genome Reference Consortium" National Center for Biotechnology Information 2013-12-24 Retrieved 2017-03-04 
  2. ^ a b "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 
  3. ^ Tom Strachan; Andrew Read 2 April 2010 Human Molecular Genetics Garland Science p 45 ISBN 978-1-136-84407-2 
  4. ^ a b Genome Decoration Page, NCBI Ideogram data for Homo sapience 850 bphs, Assembly GRCh38p3 Last update 2014-06-03 Retrieved 2017-04-26
  5. ^ Deloukas P; et al 2001 "The DNA sequence and comparative analysis of human chromosome 20" Nature 414 6866: 865–871 doi:101038/414865a PMID 11780052 
  6. ^ "Homo sapiens chromosome 20, GRCh37p13 Primary Assembly" National Center for Biotechnology Information Retrieved October 17, 2013 
  7. ^ Pertea M, Salzberg SL 2010 "Between a chicken and a grape: estimating the number of human genes" Genome Biol 11 5: 206 doi:101186/gb-2010-11-5-206 PMC 2898077  PMID 20441615 
  8. ^ "Statistics & Downloads for chromosome 20" HUGO Gene Nomenclature Committee 2017-05-12 Retrieved 2017-05-19 
  9. ^ "Chromosome 20: Chromosome summary - Homo sapiens" Ensembl Release 88 2017-03-29 Retrieved 2017-05-19 
  10. ^ "Human chromosome 20: entries, gene names and cross-references to MIM" UniProt 2018-02-28 Retrieved 2018-03-16 
  11. ^ "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 
  12. ^ "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 
  13. ^ "Search results - 20[CHR] AND "Homo sapiens"[Organism] AND "genetype pseudo"[Properties] AND alive[prop] - Gene" NCBI 2017-05-19 Retrieved 2017-05-20 
  14. ^ Gilbert F 1997 "Disease genes and chromosomes: disease maps of the human genome" Genet Test 1 3: 225–229 doi:101089/gte19971225 PMID 10464650 
  15. ^ Genome Decoration Page, NCBI Ideogram data for Homo sapience 400 bphs, Assembly GRCh38p3 Last update 2014-03-04 Retrieved 2017-04-26
  16. ^ Genome Decoration Page, NCBI Ideogram data for Homo sapience 550 bphs, Assembly GRCh38p3 Last update 2015-08-11 Retrieved 2017-04-26
  17. ^ 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 
  18. ^ Sethakulvichai, W; Manitpornsut, S; Wiboonrat, M; Lilakiatsakun, W; Assawamakin, A; Tongsima, S 2012 "Estimation of band level resolutions of human chromosome images" PDF In Computer Science and Software Engineering JCSSE, 2012 International Joint Conference on: 276–282 doi:101109/JCSSE20126261965 
  19. ^ Genome Decoration Page, NCBI Ideogram data for Homo sapience 850 bphs, Assembly GRCh38p3 Last update 2014-06-03 Retrieved 2017-04-26
  20. ^ "p": Short arm; "q": Long arm
  21. ^ For cytogenetic banding nomenclature, see article locus
  22. ^ 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
  23. ^ 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

External links

  • National Institutes of Health "Chromosome 20" Genetics Home Reference Retrieved 2017-05-06 
  • "Chromosome 20" Human Genome Project Information Archive 1990–2003 Retrieved 2017-05-06 

chromosome 20, chromosome 20 deletion, chromosome 20 diseases, chromosome 20 disorder, chromosome 20 duplication, chromosome 20 genes, chromosome 20 map, chromosome 20 mutation epilepsy, chromosome 20 traits, chromosome 20 trisomy


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