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Chromosome 20 (human)

Chromosome 20 (human)

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 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 representing 99.4% 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]

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.
Features
Length (bp)64,444,167 bp
(GRCh38)[1]
No. of genes516 (CCDS)[2]
TypeAutosome
Centromere positionMetacentric[3]
(28.1 Mbp[4])
Complete gene lists
CCDSGene list [26]
HGNCGene list [27]
UniProtGene list [28]
NCBIGene list [29]
External map viewers
EnsemblChromosome 20 [30]
EntrezChromosome 20 [31]
NCBIChromosome 20 [32]
UCSCChromosome 20 [33]
Full DNA sequences
RefSeqNC_000020 [34] (FASTA)
GenBankCM000682 [35] (FASTA)

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 byProtein-coding genesNon-coding RNA genesPseudogenesSourceRelease date
CCDS516——[2]2016-09-08
HGNC519191297[8]2017-05-12
Ensembl540594247[9]2017-03-29
UniProt550——[10]2018-02-28
NCBI555487333[11][12][13]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

  • 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

  • C20orf27: encoding protein UPF0687 protein C20orf27

  • C20orf3: encoding protein Adipocyte plasma membrane-associated protein

  • 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

  • MROH8: encoding protein maestro heat like repeat family member 8

  • 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

  • RTF2: encoding protein RTF2 homolog

  • 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 patterns of human chromosome 20 in three different resolutions (400, 550 and 850). Band length in this diagram is based on the ideograms from ISCN (2013). This type of ideogram represents actual relative band length observed under a microscope at the different moments during the mitotic process.

G-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-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).

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).

G-bands of human chromosome 20 in resolution 850 bphs[[CITE|19|ftp://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_850_V1]]
Chr.Arm[20]Band[21]ISCN
start[22]		ISCN
stop[22]		Basepair
start		Basepair
stop		Stain[23]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

References

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Citation Linkwww.ncbi.nlm.nih.gov"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.
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Citation Linkftp.ncbi.nlm.nih.govGenome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
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Citation Link//www.ncbi.nlm.nih.gov/pubmed/11780052Deloukas P; et al. (2001). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–871. doi:10.1038/414865a. PMID 11780052.
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Citation Linkwww.genenames.org"Statistics & Downloads for chromosome 20". HUGO Gene Nomenclature Committee. 2017-05-12. Retrieved 2017-05-19.
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Citation Link//www.ncbi.nlm.nih.gov/pubmed/10464650Gilbert 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.
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Citation Linkopenlibrary.org"p": Short arm; "q": Long arm.
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