Chromosome 20
Chromosome 20 | |
---|---|
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]
Genes
Number of genes
The following are some of the gene count estimates of human chromosome 20. Because researchers use different approaches to
Estimated by | Protein-coding genes
|
Non-coding RNA genes | Pseudogenes | Source | Release date |
---|---|---|---|---|---|
CCDS | 516 | — | — | [1] | 2016-09-08 |
HGNC | 519 | 191 | 297 | [7] | 2017-05-12 |
Ensembl | 540 | 594 | 247 | [8] | 2017-03-29 |
UniProt | 550 | — | — | [9] | 2018-02-28 |
NCBI | 555 | 487 | 333 | [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)
- 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]
- Albright's hereditary osteodystrophy
- Arterial tortuosity syndrome
- Adenosine deaminase deficiency
- Alagille syndrome
- Galactosialidosis - CTSA
- Maturity onset diabetes of the youngtype 1
- Neuronal ceroid lipofuscinosis
- Pantothenate kinase-associated neurodegeneration
- Transmissible spongiform encephalopathy (prion diseases)
- Waardenburg syndrome
Cytogenetic band
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.
- 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.
- PMID 11780052.
- ^ "Homo sapiens chromosome 20, GRCh37.p13 Primary Assembly". National Center for Biotechnology Information. Retrieved October 17, 2013.
- 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.
- 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.
- ISBN 978-3-318-02253-7.
- 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.