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Chromosome 19
Human chromosome

Chromosome 19 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 19 spans more than 61.7 million base pairs, the building material of DNA. It is considered the most gene-rich chromosome containing roughly 1,500 genes, despite accounting for only 2 percent of the human genome.

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Genes

Number of genes

The following are some of the gene count estimates of human chromosome 19. 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.3

Estimated byProtein-coding genesNon-coding RNA genesPseudogenesSourceRelease date
CCDS1,357——42016-09-08
HGNC1,37229941352017-05-12
Ensembl1,46989451462017-03-29
UniProt1,435——72018-02-28
NCBI1,43060452889102017-05-19

Gene list

See also: Category:Genes on human chromosome 19

The following is a partial list of genes on human chromosome 19. For complete list, see the link in the infobox on the right.

Short arm

  • CACNA1A: Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (Familial hemiplegic migraine Type I). Gene map locus 19p13
  • COMP: Cartilage oligomeric matrix protein. Gene map locus 19p13.1
  • NOTCH3: Notch homolog 3 (Drosophila): Gene map locus 19p13.1-p13.2
  • GCDH: Glutaryl-Coenzyme A dehydrogenase. Gene map locus 19p13.2
  • ZNF121: Zinc finger protein 121. Gene map locus 19p13.2
  • BSG: Basigin (Ok blood group)/Extracellular matrix metalloproteinase inducer/CD147. Gene map locus 19p13.3
  • ICAM4: Landsteiner and Weiner glycoprotein. Gene map locus 19p13.3
  • NRTN: Neurturin, associated with Hirschsprung's disease: Gene locus map 19p13.3
  • GTPBP3: GTP binding protein 3 19p13.11
  • KLF2: Krüppel-like factor 2, also known as Lung Krüppel-like factor. Gene map locus 19p13.11 OMIM: 602016
  • FAM32A: family with sequence similarity 32 member A 19q13.11
  • DDX39: DExD-box helicase 39. Gene map locus 19p13.12

Long arm

  • GAPDHS: glyceraldehyde-3-phosphate dehydrogenase, spermatogenic 19q13.12
  • HAMP: Hepcidin antimicrobial peptide. Gene map locus 19q13.12
  • BCKDHA: Branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease). Gene map location 19q13.1-q13.2
  • APOE: Apolipoprotein E, gene associated with Alzheimer's disease. Gene map locus 19q13.2
  • CIC: Capicua transcriptional repressor. Gene map locus 19q13.2
  • FCGBP: Fc fragment of IgG binding protein
  • SARS2: seryl-tRNA synthetase 2, mitochondrial. Gene map locus 19q13.2
  • ATP1A3: ATPase. Gene map locus 19q13.31
  • DMWD: DM1 locus, WD repeat containing. Gene map locus 19q13.32
  • PNMA8A: paraneoplastic Ma antigen family member 8A 19q13.32
  • DMPK: Dystrophia myotonica-protein kinase. Gene map locus 19q13.32
  • GLTSCR2: Glioma tumor suppressor candidate region gene 2 protein 19q13.33
  • A1BG: Plasma glycoprotein, unknown function. Gene map locus 19q13.43
  • LRC: The Leukocyte Receptor Complex is a family of immunoreceptors expressed predominantly on monocytes and B cells and at lower levels on dendritic cells and natural killer (NK) cells. The LRC also includes the KIR locus. Gene map locus 19q13.4 OMIM: 604812
  • KPTN: Kaptin (actin binding protein) at the tips of stereocilia. Gene map locus 19q13.411
  • FUT1: The H locus is located on chromosome 19 at 19q13.3. It contains three exons that span more than 5 kb of genomic DNA, and it encodes a fucosyltransferase that produces the H antigen on RBCs.12
  • FUT2: The Se locus is located on chromosome 19 at 19q13.3. It contains two exons that span about 25 kb of genomic DNA. The Se locus encodes a specific fucosyltransferase that is expressed in the epithelia of secretory tissues, such as salivary glands, the gastrointestinal tract, and the respiratory tract. The enzyme it encodes catalyzes the production of H antigen.13
  • MORT (Mortal Obligate RNA Transcript, lincRNA): Gene map locus 19q13.43

Diseases and disorders

The following diseases are some of those related to genes on chromosome 19:14

Cytogenetic band

G-bands of human chromosome 19 in resolution 850 bphs17
Chr.Arm18Band19ISCNstart20ISCNstop21BasepairstartBasepairstopStain22Density
19p13.3057816,900,000gneg
19p13.25788706,900,00112,600,000gpos25
19p13.13870103412,600,00113,800,000gneg
19p13.121034121613,800,00116,100,000gpos25
19p13.111216158116,100,00119,900,000gneg
19p121581180919,900,00124,200,000gvar
19p111809199224,200,00126,200,000acen
19q111992215926,200,00128,100,000acen
19q122159237228,100,00131,900,000gvar
19q13.112372256931,900,00135,100,000gneg
19q13.122569273735,100,00137,800,000gpos25
19q13.132737294937,800,00138,200,000gneg
19q13.22949310138,200,00142,900,000gpos25
19q13.313101319342,900,00144,700,000gneg
19q13.323193339044,700,00147,500,000gpos25
19q13.333390364947,500,00150,900,000gneg
19q13.413649377050,900,00153,100,000gpos25
19q13.423770393853,100,00155,800,000gneg
19q13.433938412055,800,00158,617,616gpos25
  • Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J, Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A, Altherr M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel S, Carrano A, Caoile C, Chan YM, Christensen M, Cleland CA, Copeland A, Dalin E, Dehal P, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Garcia C, Georgescu AM, Glavina T, Gomez M, Gonzales E, Groza M, Hammon N, Hawkins T, Haydu L, Ho I, Huang W, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Larionov V, Leem SH, Lopez F, Lou Y, Lowry S, Malfatti S, Martinez D, McCready P, Medina C, Morgan J, Nelson K, Nolan M, Ovcharenko I, Pitluck S, Pollard M, Popkie AP, Predki P, Quan G, Ramirez L, Rash S, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, She X, Smith D, Slezak T, Solovyev V, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wagner M, Wheeler J, Wu K, Xie G, Yang J, Dubchak I, Furey TS, DeJong P, Dickson M, Gordon D, Eichler EE, Pennacchio LA, Richardson P, Stubbs L, Rokhsar DS, Myers RM, Rubin EM, Lucas SM (2004). "The DNA sequence and biology of human chromosome 19". Nature. 428 (6982): 529–35. Bibcode:2004Natur.428..529G. doi:10.1038/nature02399. PMID 15057824.
  • Human Proteome Project Launch website~ https://web.archive.org/web/20110726163128/http://www.hupo.org/research/hpp/HPP_legrain_sep_2010.pdf
Wikimedia Commons has media related to Human chromosome 19.
  • National Institutes of Health. "Chromosome 19". Genetics Home Reference. Archived from the original on August 3, 2004. Retrieved 2017-05-06.
  • "Chromosome 19". Human Genome Project Information Archive 1990–2003. Retrieved 2017-05-06.

References

  1. Ucciferri, Charles (2004-03-31). "Gene-Rich Human Chromosome 19 Sequence Completed". DOE Joint Genome Institute. Retrieved 2022-12-10. https://jgi.doe.gov/news_3_31_04/ ↩

  2. Sehgal, N.; Fritz, A. J.; Morris, K.; Torres, I.; Chen, Z.; Xu, J.; Berezney, R. (2014). "Gene Density and Chromosome Territory Shape". Chromosoma. 123 (5): 499–513. doi:10.1007/s00412-014-0480-y. PMC 5726871. PMID 25106753. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5726871 ↩

  3. 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. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2898077 ↩

  4. "Search results - 19[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. https://www.ncbi.nlm.nih.gov/gene?term=19%5BChr%5D%20AND%20%22Homo%20sapiens%22%5BOrganism%5D%20AND%20%28%22has%20ccds%22%5BProperties%5D%20AND%20alive%5Bprop%5D%29&cmd=DetailsSearch ↩

  5. "Statistics & Downloads for chromosome 19". HUGO Gene Nomenclature Committee. 2017-05-12. Retrieved 2017-05-19. https://www.genenames.org/cgi-bin/statistics?c=19 ↩

  6. "Chromosome 19: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. http://mar2017.archive.ensembl.org/Homo_sapiens/Location/Chromosome?r=19 ↩

  7. "Human chromosome 19: entries, gene names and cross-references to MIM". UniProt. 2018-02-28. Retrieved 2018-03-16. https://www.uniprot.org/docs/humchr19.txt ↩

  8. "Search results - 19[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20. https://www.ncbi.nlm.nih.gov/gene?term=19%5BCHR%5D%20AND%20%22Homo%20sapiens%22%5BOrganism%5D%20AND%20%28%22genetype%20protein%20coding%22%5BProperties%5D%20AND%20alive%5Bprop%5D%29&cmd=DetailsSearch ↩

  9. "Search results - 19[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. https://www.ncbi.nlm.nih.gov/gene?term=19%5BCHR%5D%20AND%20%22Homo%20sapiens%22%5BOrganism%5D%20AND%20%28%28%22genetype%20miscrna%22%5BProperties%5D%20OR%20%22genetype%20ncrna%22%5BProperties%5D%20OR%20%22genetype%20rrna%22%5BProperties%5D%20OR%20%22genetype%20trna%22%5BProperties%5D%20OR%20%22genetype%20scrna%22%5BProperties%5D%20OR%20%22genetype%20snrna%22%5BProperties%5D%20OR%20%22genetype%20snorna%22%5BProperties%5D%29%20NOT%20%22genetype%20protein%20coding%22%5BProperties%5D%20AND%20alive%5Bprop%5D%29&cmd=DetailsSearch ↩

  10. "Search results - 19[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20. https://www.ncbi.nlm.nih.gov/gene?term=19%5BCHR%5D%20AND%20%22Homo%20sapiens%22%5BOrganism%5D%20AND%20%28%22genetype%20pseudo%22%5BProperties%5D%20AND%20alive%5Bprop%5D%29&cmd=DetailsSearch ↩

  11. Bearer EL, Chen AF, Chen AH, Li Z, Mark HF, Smith RJ, Jackson CL (2000). "2E4/Kaptin (KPTN)—a candidate gene for the hearing loss locus, DFNA4". Ann Hum Genet. 64 (3): 189–196. doi:10.1046/j.1469-1809.2000.6430189.x. PMC 3376086. PMID 11409409. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3376086 ↩

  12. Dean, L. (2005). "Ch. 5: The ABO blood group". Blood Groups and Red Cell Antigens. Bethesda MD: National Center for Biotechnology Information. NBK2261. https://www.ncbi.nlm.nih.gov/books/NBK2267/ ↩

  13. Dean, L. (2005). "Ch. 5: The ABO blood group". Blood Groups and Red Cell Antigens. Bethesda MD: National Center for Biotechnology Information. NBK2261. https://www.ncbi.nlm.nih.gov/books/NBK2267/ ↩

  14. Gilbert F (1997). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 19". Genet Test. 1 (2): 145–9. doi:10.1089/gte.1997.1.145. PMID 10464639. /wiki/Doi_(identifier) ↩

  15. "OMIM Entry - # 613845 - HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME; HUPRAS". www.omim.org. Retrieved 20 January 2017. https://www.omim.org/entry/613845 ↩

  16. Moss, K (Spring 2001). "Leber's Congenital Amaurosis". Texas Deafblind Outreach. Texas School for the Blind and Visually Impaired. Archived from the original on November 19, 2013. https://web.archive.org/web/20131119084909/http://www.tsbvi.edu/seehear/spring01/lebers.htm ↩

  17. Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26. http://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_850_V1 ↩

  18. "p": Short arm; "q": Long arm. ↩

  19. For cytogenetic banding nomenclature, see article locus. /wiki/Locus_(genetics) ↩

  20. 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. /wiki/Arbitrary_unit ↩

  21. 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. /wiki/Arbitrary_unit ↩

  22. 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. /wiki/G_banding ↩