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Human chromosome
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]
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]
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)
BPIFA1 : encoding
protein BPI fold containing family A, member 1
BPIFA2 : encoding
protein BPI fold containing family A, member 2
BPIFA3 : encoding
protein BPI fold containing family A, member 3
BPIFA4P : non-coding
pseudogene of the BPI fold containing family A, member 4P
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 B, member 5P
BPIFB6 : encoding
protein BPI fold containing family B, member 6
BPIFB9P : non-coding
pseudogene of the BPI fold containing family B, member 9P
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
HSPA12B : encoding protein Heat shock protein family a (hsp70) member 12b
ITPA : encoding
enzyme Inosine triphosphate pyrophosphatase
JAG1 : jagged 1 (Alagille syndrome)
JPH2 : encoding
protein Junctophilin 2
KIAA1755 : encoding protein Kiaa1755
KIZ : encoding
protein Kizuna centrosomal protein
Kua-UEV :
L3MBTL : encoding protein Lethal(3)malignant brain tumor-like protein
LIME1 : encoding
protein Lck-interacting transmembrane adapter 1
LZTS3 : encoding
protein Leucine zipper, putative tumor suppressor family member 3
MIR124-3 : encoding protein MIR124-3
MIR499A : encoding protein MicroRNA 499a
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
OCSTAMP : encoding protein Osteoclast stimulatory transmembrane protein
OTOR : encoding
protein Otoraplin
OXT : encoding protein Oxytocin/neurophysin i prepropeptide
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
SNPH : encoding protein Syntaphilin
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 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 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
20
p
13
0
333
1
5,100,000
gneg
20
p
12.3
333
513
5,100,001
9,200,000
gpos
75
20
p
12.2
513
624
9,200,001
12,000,000
gneg
20
p
12.1
624
915
12,000,001
17,900,000
gpos
75
20
p
11.23
915
1164
17,900,001
21,300,000
gneg
20
p
11.22
1164
1275
21,300,001
22,300,000
gpos
25
20
p
11.21
1275
1441
22,300,001
25,700,000
gneg
20
p
11.1
1441
1608
25,700,001
28,100,000
acen
20
q
11.1
1608
1774
28,100,001
30,400,000
acen
20
q
11.21
1774
1927
30,400,001
33,500,000
gneg
20
q
11.22
1927
2051
33,500,001
35,800,000
gpos
25
20
q
11.23
2051
2232
35,800,001
39,000,000
gneg
20
q
12
2232
2439
39,000,001
43,100,000
gpos
75
20
q
13.11
2439
2578
43,100,001
43,500,000
gneg
20
q
13.12
2578
2758
43,500,001
47,800,000
gpos
25
20
q
13.13
2758
3077
47,800,001
51,200,000
gneg
20
q
13.2
3077
3299
51,200,001
56,400,000
gpos
75
20
q
13.31
3299
3382
56,400,001
57,800,000
gneg
20
q
13.32
3382
3493
57,800,001
59,700,000
gpos
50
20
q
13.33
3493
3770
59,700,001
64,444,167
gneg
References
^
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 .
^ Tom Strachan; Andrew Read (2 April 2010).
Human Molecular Genetics . Garland Science. p. 45.
ISBN
978-1-136-84407-2 .
^
a
b Genome Decoration Page, NCBI.
Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3) . Last update 2014-06-03. Retrieved 2017-04-26.
^ 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 .
^
"Homo sapiens chromosome 20, GRCh37.p13 Primary Assembly" . National Center for Biotechnology Information. Retrieved October 17, 2013 .
^ 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 .
^
"Statistics & Downloads for chromosome 20" . HUGO Gene Nomenclature Committee . 2017-05-12. Retrieved 2017-05-19 .
^
"Chromosome 20: Chromosome summary - Homo sapiens" . Ensembl Release 88 . 2017-03-29. Retrieved 2017-05-19 .
^
"Human chromosome 20: entries, gene names and cross-references to MIM" . UniProt . 2018-02-28. Retrieved 2018-03-16 .
^
"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 .
^
"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 .
^
"Search results - 20[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene" . NCBI . 2017-05-19. Retrieved 2017-05-20 .
^ 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 .
^ Genome Decoration Page, NCBI.
Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3) . Last update 2014-03-04. Retrieved 2017-04-26.
^ Genome Decoration Page, NCBI.
Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3) . Last update 2015-08-11. Retrieved 2017-04-26.
^ 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 .
^ Sethakulvichai, W.; Manitpornsut, S.; Wiboonrat, M.; Lilakiatsakun, W.; Assawamakin, A.; Tongsima, S. (2012).
"Estimation of band level resolutions of human chromosome images" . 2012 Ninth International Conference on Computer Science and Software Engineering (JCSSE) . pp. 276–282.
doi :
10.1109/JCSSE.2012.6261965 .
ISBN
978-1-4673-1921-8 .
S2CID
16666470 .
^ Genome Decoration Page, NCBI.
Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3) . Last update 2014-06-03. Retrieved 2017-04-26.
^ "p ": Short arm; "q ": Long arm.
^ For cytogenetic banding nomenclature, see article
locus .
^
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 .
^ 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 . Archived from
the original on August 3, 2004. Retrieved 2017-05-06 .
"Chromosome 20" . Human Genome Project Information Archive 1990–2003 . Retrieved 2017-05-06 .
Basic concepts Types Processes and evolution Structures
See also