Human chromosome
Chromosome 20 is one of the 23 pairs ofchromosomes inhumans . Chromosome 20 spans around 66 millionbase pairs (the building material ofDNA ) and represents between 2 and 2.5 percent of the total DNA incells . Chromosome 20 was fully sequenced in 2001 and was reported to contain over 59 million base pairs.[ 4] [ 5]
The following are some of the gene count estimates of human chromosome 20. Because researchers use different approaches togenome annotation their predictions of thenumber of genes on each chromosome varies (for technical details, seegene 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]
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 : encodingprotein Activity-dependent neuroprotector homeoboxAHCY : S-adenosylhomocysteine hydrolaseAPMAP : encodingprotein Adipocyte plasma membrane-associated proteinARFGEF2 : ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)BCAS1 : Breast carcinoma-amplified sequence 1BLCAP : Bladder cancer associated proteinBMP2 : Bone Morphogenetic Protein 2 (osteoblast differentiation)BPIFA1 : encodingprotein BPI fold containing family A, member 1BPIFA2 : encodingprotein BPI fold containing family A, member 2BPIFA3 : encodingprotein BPI fold containing family A, member 3BPIFA4P : non-codingpseudogene of the BPI fold containing family A, member 4PBPIFB1 : encodingprotein BPI fold containing family B, member 1BPIFB2 : encodingprotein BPI fold containing family B, member 2BPIFB3 : encodingprotein BPI fold containing family B, member 3BPIFB4 : encodingprotein BPI fold containing family B, member 4BPIFB5P : non-codingpseudogene of the BPI fold containing family B, member 5PBPIFB6 : encodingprotein BPI fold containing family B, member 6BPIFB9P : non-codingpseudogene of the BPI fold containing family B, member 9PC20orf27 : encodingprotein UPF0687 protein C20orf27CSRP2BP : encodingprotein CSRP2 binding proteinCST9L : Cystatin-9-likeCSTL1 : Cystatin-like 1CTCFL : CCCTC-binding factor-likeCTNNBL1 : Beta-catenin-like protein 1DBNDD2 : Dysbindin domain-containing protein 2DDX27 : DEAD box polypeptide 27DEFB118 ,DEFB119 ,DEFB126 ,DEFB127 ,DEFB129 : Beta-defensin genesDLGAP4 : Disks large-associated protein 4DNAJC5 : Cysteine string proteinEDEM2 : ER degradation-enhancing alpha-mannosidase-like 2EDN3 : endothelin 3ENTPD6 : Ectonucleoside triphosphate diphosphohydrolase 6ESF1 : ESF1 nucleolar pre-rRNA processing protein homologFAM210B : encoding protein FAM210BFASTKD5 : encodingprotein FAST kinase domain-containing protein 5 (FASTKD5)FITM2 : encodingprotein Fat storage-inducing transmembrane protein 2GZF1 : encodingprotein GDNF-inducible zinc finger protein 1GMEB2 : Glucocorticoid modulatory element-binding protein 2GNAS1 : Gs alpha subunit (membrane G-protein)GSS : glutathione synthetaseHSPA12B : encoding protein Heat shock protein family a (hsp70) member 12bITPA : encodingenzyme Inosine triphosphate pyrophosphataseJAG1 : jagged 1 (Alagille syndrome)JPH2 : encodingprotein Junctophilin 2KIAA1755 : encoding protein Kiaa1755KIZ : encodingprotein Kizuna centrosomal proteinKua-UEV :L3MBTL : encoding protein Lethal(3)malignant brain tumor-like proteinLIME1 : encodingprotein Lck-interacting transmembrane adapter 1LZTS3 : encodingprotein Leucine zipper, putative tumor suppressor family member 3MIR124-3 : encoding protein MIR124-3MIR499A : encoding protein MicroRNA 499aMROH8 : encodingprotein maestro heat like repeat family member 8NAPB : encodingprotein Beta-soluble NSF attachment proteinNDUFAF5 : encoding protein NADH:ubiquinone oxidoreductase complex assembly factor 5Nnat : encoding protein NeuronatinNOL5A : encodingprotein Nucleolar protein 56NRSN2 : encodingprotein Neurensin-2OCSTAMP : encoding protein Osteoclast stimulatory transmembrane proteinOTOR : encodingprotein OtoraplinOXT : encoding protein Oxytocin/neurophysin i prepropeptidePANK2 : pantothenate kinase 2 (pantothenate kinase-associated neurodegeneration )PKIG : encodingprotein cAMP-dependent protein kinase inhibitor gammaPLAGL2 : encodingprotein Zinc finger protein PLAGL2POLR3F : encodingenzyme DNA-directed RNA polymerase III subunit RPC6PRIC285 :PRNP : prion protein (p27-30) (Creutzfeldt–Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)PXMP4 : encodingprotein Peroxisomal membrane protein 4R3HDML : encodingprotein R3H domain containing-likeRTF2 : encoding protein RTF2 homologSALL4 : sal-like 4 (Drosophila)SERINC3 : encodingprotein Serine incorporator 3SHLD1 : encoding protein Shieldin complex subunit 1SLC17A9 : encoding protein Solute carrier family 17 member 9SLC2A4RG : encodingprotein SLC2A4 regulatorSLX4IP : encodingprotein SLX4 interacting proteinSNPH : encoding protein SyntaphilinSPATA2 : encodingprotein Spermatogenesis-associated protein 2SPEF1 : encodingprotein Sperm flagellar protein 1SRXN1 : encodingprotein Sulfiredoxin-1STAU1 : encodingprotein Double-stranded RNA-binding protein Staufen homolog 1STK35L1 : encodingprotein STK35L1SUN5 : encodingprotein SUN domain-containing protein 5TASP1 : encodingenzyme Threonine aspartase 1tTG : tissue transglutaminase (auto antigen of Celiac disease)TMEPAI : encodingprotein Transmembrane prostate androgen-induced proteinTTPAL : encodingprotein Tocopherol (alpha) transfer protein-likeUCKL1 : encodingenzyme Uridine-cytidine kinase-like 1UQCC : encodingenzyme Ubiquinol-cytochrome c reductase complex chaperone CBP3 homologVAPB : VAMP (vesicle-associated membrane protein)-associated protein B and CYTHDF1 : encodingprotein YTH domain family, member 1ZFP64 encodingprotein Zinc finger protein 64 homolog, isoforms 1 and 2ZGPAT : encodingprotein Zinc finger CCCH-type with G patch domain-containing proteinZHX3 : encodingprotein Zinc fingers and homeoboxes protein 3ZNF334 : encodingprotein Zinc finger protein 334ZNF343 : encodingprotein Zinc finger protein 343 ZSWIM3 : encodingprotein Zinc finger SWIM-type containing 3ZMYND8 : encodingenzyme Protein kinase C-binding protein 1ZNF133 : encodingprotein Zinc finger protein 133Diseases and disorders [ edit ] The following diseases are some of those related to genes on chromosome 20:[ 13]
G-banding ideograms of human chromosome 20
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[ 21] ISCN[ 21] Basepair Basepair Stain[ 22] Density 20 p 13 0 333 gneg 20 p 12.3 333 513 gpos 75 20 p 12.2 513 624 gneg 20 p 12.1 624 915 gpos 75 20 p 11.23 915 1164 gneg 20 p 11.22 1164 1275 gpos 25 20 p 11.21 1275 1441 gneg 20 p 11.1 1441 1608 acen 20 q 11.1 1608 1774 acen 20 q 11.21 1774 1927 gneg 20 q 11.22 1927 2051 gpos 25 20 q 11.23 2051 2232 gneg 20 q 12 2232 2439 gpos 75 20 q 13.11 2439 2578 gneg 20 q 13.12 2578 2758 gpos 25 20 q 13.13 2758 3077 gneg 20 q 13.2 3077 3299 gpos 75 20 q 13.31 3299 3382 gneg 20 q 13.32 3382 3493 gpos 50 20 q 13.33 3493 3770 gneg
^a b "Search results - 20[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene" .NCBI . CCDS Release 20 forHomo sapiens . 2016-09-08. Retrieved2017-05-28 .^ Tom Strachan; Andrew Read (2 April 2010).Human Molecular Genetics 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. RetrievedOctober 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. Retrieved2017-05-19 .^ "Chromosome 20: Chromosome summary - Homo sapiens" .Ensembl Release 88 . 2017-03-29. Retrieved2017-05-19 .^ "Human chromosome 20: entries, gene names and cross-references to MIM" .UniProt . 2018-02-28. Retrieved2018-03-16 .^ "Search results - 20[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene" .NCBI . 2017-05-19. Retrieved2017-05-20 .^ "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. Retrieved2017-05-20 .^ "Search results - 20[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene" .NCBI . 2017-05-19. Retrieved2017-05-20 .^ 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) 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 articlelocus . ^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 byG banding , generallyAT-rich and gene poor;gneg : Region which is negatively stained by G banding, generallyCG-rich and gene rich;acen Centromere .var : Variable region;stalk : Stalk.National Institutes of Health."Chromosome 20" .Genetics Home Reference . Archived fromthe original on August 3, 2004. Retrieved2017-05-06 . "Chromosome 20" .Human Genome Project Information Archive 1990–2003 . Retrieved2017-05-06 .
Basic Types Processes Structures
See also
