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Chromosome 19

chromosome 19 disorders, chromosome 19
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 586 million base pairs, the building material of DNA

Contents

  • 1 Genes
    • 11 Number of genes
    • 12 Gene list
      • 121 Short arm
      • 122 Long arm
  • 2 Diseases and disorders
  • 3 Cytogenetic band
  • 4 References
  • 5 External links

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[5]

Estimated by Protein-coding genes Non-coding RNA genes Pseudogenes Source Release date
CCDS 1,357 - - [2] 2016-09-08
HGNC 1,372 299 413 [6] 2017-05-12
Ensembl 1,469 894 514 [7] 2017-03-29
UniProt 1,435 - - [8] 2018-02-28
NCBI 1,430 604 528 [9][10][11] 2017-05-19

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

  • A1BG: encoding protein Alpha-1-B glycoprotein
  • AAVS1, viral integration site
  • ACSBG2: encoding enzyme Long-chain-fatty-acid—CoA ligase
  • ANKRD24: encoding protein Ankyrin repeat domain-containing protein 24
  • ARMC6: encoding protein Armadillo repeat-containing protein 6
  • ATG4D: encoding protein Autophagy related 4D, cysteine peptidase
  • ATP5SL: encoding protein ATP synthase subunit s-like protein
  • ATPase ASNA1: encoding enzyme ATPase ASNA1 also known as arsenical pump-driving ATPase and arsenite-stimulated ATPase
  • BTBD14B: encoding protein Nucleus accumbens-associated protein 1
  • CACTIN: encoding protein Cactin
  • CCDC130: encoding protein Coiled-coil domain containing 130
  • CCDC151: encoding protein Coiled-coil domain containing 151
  • CCDC8: encoding protein Coiled-coil domain containing 8
  • CCDC94: encoding protein Coiled-coil domain containing 94 CCDC94,
  • DNASE2: encoding protein Deoxyribonuclease II, lysosomal
  • EID2:
  • ETV2: encoding protein Ets variant 2
  • HCST: encoding protein Hematopoietic cell signal transducer
  • HRC: encoding protein Sarcoplasmic reticulum histidine-rich calcium-binding protein
  • IFI30: encoding enzyme Gamma-interferon-inducible lysosomal thiol reductase
  • IGFL3: encoding protein IGF like family member 3
  • KRTDAP: encoding protein Keratinocyte differentiation-associated protein
  • LIM2: encoding protein Lens fiber membrane intrinsic protein
  • LRG1: encoding protein Leucine-rich alpha-2-glycoprotein 1
  • LSM4: encoding protein U6 snRNA-associated Sm-like protein LSm4
  • LSR: encoding protein Lipolysis-stimulated lipoprotein receptor
  • LYPD5: encoding protein LY6/PLAUR domain containing 5
  • MBOAT7: encoding enzyme Lysophospholipid acyltransferase 7
  • MOBKL2A: encoding enzyme Mps one binder kinase activator-like 2A
  • MZF1-AS1: encoding protein MZF1 antisense RNA 1
  • NCLN: encoding protein Nicalin
  • NFKBID: encoding protein Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor
  • NOSIP: encoding enzyme Nitric oxide synthase-interacting protein
  • NWD1: NACHT and WD repeat domain containing 1
  • OLFM2: encoding protein Olfactomedin 2
  • OSCAR: encoding protein Osteoclast-associated immunoglobulin-like receptor
  • PALM: encoding protein Paralemmin
  • PDCD5: encoding protein Programmed cell death protein 5
  • PLIN4: encoding protein Perilipin 4
  • PEX11G: peroxisomal biogenesis factor 11 gamma
  • PLVAP: encoding protein Plasmalemma vesicle-associated protein
  • PRR12: encoding protein Proline-rich 12
  • PRR36 Proline Rich Region 36 encoding protein PRP36 Proline Rich Protein 36
  • KLK3: The Prostate-specific antigen PSA
  • PRX: Periaxin
  • PTOV1: encoding protein Prostate tumor overexpressed gene 1 protein
  • SBNO2: encoding protein Strawberry notch homolog 2 Drosophila
  • SEPW1: encoding protein Selenoprotein W
  • SFRS14: encoding protein Putative splicing factor, arginine/serine-rich 14
  • SFRS16: encoding protein Splicing factor, arginine/serine-rich 16
  • SLC5A5: Solute carrier family 5 sodium iodide symporter, member 5
  • STK11: Serine/threonine kinase 11 Peutz-Jeghers syndrome
  • TBCB: encoding protein Tubulin-folding cofactor B
  • TECR: encoding enzyme Trans-2,3-enoyl-CoA reductase
  • THOP1: encoding enzyme Thimet oligopeptidase
  • TIMM50: encoding enzyme Mitochondrial import inner membrane translocase subunit TIM50
  • TIP39: encoding protein Tuberoinfundibular peptide of 39 residues
  • TMED1: encoding protein Transmembrane emp24 domain-containing protein 1
  • TMEM160: encoding protein Transmembrane protein 160
  • TMEM205: encoding protein Transmembrane Protein 205
  • UBXN6: encoding protein UBX domain protein 6
  • UCA1: a long non-coding RNA Urothelial cancer associated 1
  • UPK1A: encoding protein Uroplakin-1a
  • USE1: encoding protein Uncharacterized hematopoietic stem/progenitor cells protein MDS032
  • Zfp82 zinc finger protein: encoding protein ZFP82 zinc finger protein
  • ZSCAN18: encoding protein Zinc finger and SCAN domain containing 18
  • ZNF112: encoding protein Zinc finger protein 112
  • ZNF134: encoding protein Zinc finger protein 134
  • ZNF160: encoding protein Zinc finger protein 160
  • ZNF180: encoding protein Zinc finger protein 180
  • ZNF208: encoding protein Zinc finger protein 208
  • ZNF224: encoding protein Zinc finger protein 224
  • ZNF225: encoding protein Zinc finger protein 225
  • ZNF226: encoding protein Zinc finger protein 226
  • ZNF229: encoding protein Zinc finger protein 229
  • ZNF257: encoding protein Zinc finger protein 257
  • ZNF264: encoding protein Zinc finger protein 264
  • ZNF266: encoding protein Zinc finger protein 266
  • ZNF274: encoding protein Zinc finger protein 274
  • ZNF331: encoding protein Zinc finger protein 331
  • ZNF347: encoding protein Zinc finger protein 347
  • ZNF426: encoding protein Zinc finger protein 426
  • ZNF665 encoding protein Zinc finger protein 665
  • ZNF473: encoding protein Zinc finger protein 473
  • ZNF506: encoding protein Zinc finger protein 506
  • ZNF507: encoding protein Zinc finger protein 507
  • ZNF536: encoding protein Zinc finger protein 536
  • ZNF541: encoding protein Zinc finger protein 541
  • ZNF557: encoding protein Zinc finger protein 557
  • ZNF571: encoding protein Zinc finger protein 571
  • ZNF576: encoding protein Zinc finger protein 576
  • Zinc finger protein 613: encoding protein Zinc finger protein 613
  • ZNF649: Transcriptional suppressor
  • ZNF71: encoding protein Endothelial zinc finger protein induced by tumor necrosis factor alpha
  • ZNF737: encoding protein Zinc finger protein 737
  • ZNF749: encoding protein Zinc finger protein 749
  • ZNF676: encoding protein Zinc finger protein 676
  • ZNF772: encoding protein Zinc finger protein 772
  • ZNF784: encoding protein Zinc finger protein 784
  • ZNF8: encoding protein Zinc finger protein 8
  • ZNF83: encoding protein Zinc finger protein 83
  • ZNF878: encoding protein Zinc finger protein 878
  • ZNF880: encoding protein Zinc finger protein 880

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 19p131
  • NOTCH3: Notch homolog 3 Drosophila: Gene map locus 19p131-p132
  • GCDH: Glutaryl-Coenzyme A dehydrogenase Gene map locus 19p132
  • BSG: Basigin Ok blood group/Extracellular matrix metalloproteinase inducer/CD147 Gene map locus 19p133
  • ICAM4: Landsteiner and Weiner glycoprotein Gene map locus 19p133
  • NRTN: Neurturin, associated with Hirschsprung's disease: Gene locus map 19p133
  • HCL1: Hair Colour 1; Brown hair colour; BRHC Gene map locus 19p131-q1311 OMIM: 113750
  • EYCL1: Eye Colour 1; Eye colour, green/blue; GEY Gene map locus 19p131-q1311 OMIM: 227240
  • GTPBP3: GTP binding protein 3 19p1311
  • KLF2: Krüppel-like factor 2, also known as Lung Krüppel-like factor Gene map locus 19p1311 OMIM: 602016
  • FAM32A: family with sequence similarity 32 member A 19q1311
  • DDX39: DExD-box helicase 39 Gene map locus 19p1312

Long arm

  • GAPDHS: glyceraldehyde-3-phosphate dehydrogenase, spermatogenic 19q1312
  • HAMP: Hepcidin antimicrobial peptide Gene map locus 19q1312
  • BCKDHA: Branched chain keto acid dehydrogenase E1, alpha polypeptide maple syrup urine disease Gene map location 19q131-q132
  • APOE: Apolipoprotein E, gene associated with Alzheimer's disease Gene map locus 19q132
  • CIC: Capicua transcriptional repressor Gene map locus 19q132
  • FCGBP: Fc fragment of IgG binding protein
  • SARS2: seryl-tRNA synthetase 2, mitochondrial Gene map locus 19q132
  • ATP1A3: ATPase Gene map locus 19q1331
  • DMWD: DM1 locus, WD repeat containing Gene map locus 19q1332
  • PNMA8A: paraneoplastic Ma antigen family member 8A 19q1332
  • DMPK: Dystrophia myotonica-protein kinase Gene map locus 19q1332
  • GLTSCR2: Glioma tumor suppressor candidate region gene 2 protein 19q1333
  • A1BG: Plasma glycoprotein, unknown function Gene map locus 19q1343
  • 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 19q134 OMIM: 604812
  • KPTN: Kaptin actin binding protein at the tips of stereocilia Gene map locus 19q134[12]
  • FUT1: The H locus is located on chromosome 19 at 19q133 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[13]
  • FUT2: The Se locus is located on chromosome 19 at 19q133 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 19q1343

Diseases and disorders

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

  • Alternating hemiplegia of childhood
  • Alzheimer's disease
  • CADASIL
  • Centronuclear myopathy autosomal dominant form
  • Charcot-Marie-Tooth disease
  • Congenital hearing loss
  • Congenital hypothyroidism
  • Donohue syndrome
  • Familial hemiplegic migraine
  • Glutaric acidemia type 1
  • Hemochromatosis
  • HUPRA syndrome[15]
  • Leber's Congenital Amaurosis[16]
  • Maple syrup urine disease
  • Marfan syndrome
  • Multiple epiphyseal dysplasia
  • Myotonic dystrophy
  • Myotubular myopathy autosomal dominant form
  • Oligodendroglioma
  • Peutz-Jeghers syndrome
  • Prolidase deficiency
  • Pseudoachondroplasia
  • Spinocerebellar ataxia type-6
  • X-linked agammaglobulinemia or Bruton's Disease

Cytogenetic band

G-banding ideograms of human chromosome 19G-banding ideogram of human chromosome 19 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 eg Ensembl, UCSC Genome BrowserG-banding patterns of human chromosome 19 in three different resolutions 400,[17] 550[18] and 850[4] Band length in this diagram is based on the ideograms from ISCN 2013[19] This type of ideogram represents actual relative band length observed under a microscope at the different moments during the mitotic process[20] G-bands of human chromosome 19 in resolution 850 bphs[21]
Chr Arm[22] Band[23] ISCN
start[24]
ISCN
stop[24]
Basepair
start
Basepair
stop
Stain[25] Density
19 p 133 0 578 7000100000000000000♠1 7006690000000000000♠6,900,000 gneg
19 p 132 578 870 7006690000100000000♠6,900,001 7007126000000000000♠12,600,000 gpos 25
19 p 1313 870 1034 7007126000010000000♠12,600,001 7007138000000000000♠13,800,000 gneg
19 p 1312 1034 1216 7007138000010000000♠13,800,001 7007161000000000000♠16,100,000 gpos 25
19 p 1311 1216 1581 7007161000010000000♠16,100,001 7007199000000000000♠19,900,000 gneg
19 p 12 1581 1809 7007199000010000000♠19,900,001 7007242000000000000♠24,200,000 gvar
19 p 11 1809 1992 7007242000010000000♠24,200,001 7007262000000000000♠26,200,000 acen
19 q 11 1992 2159 7007262000010000000♠26,200,001 7007281000000000000♠28,100,000 acen
19 q 12 2159 2372 7007281000010000000♠28,100,001 7007319000000000000♠31,900,000 gvar
19 q 1311 2372 2569 7007319000010000000♠31,900,001 7007351000000000000♠35,100,000 gneg
19 q 1312 2569 2737 7007351000010000000♠35,100,001 7007378000000000000♠37,800,000 gpos 25
19 q 1313 2737 2949 7007378000010000000♠37,800,001 7007382000000000000♠38,200,000 gneg
19 q 132 2949 3101 7007382000010000000♠38,200,001 7007429000000000000♠42,900,000 gpos 25
19 q 1331 3101 3193 7007429000010000000♠42,900,001 7007447000000000000♠44,700,000 gneg
19 q 1332 3193 3390 7007447000010000000♠44,700,001 7007475000000000000♠47,500,000 gpos 25
19 q 1333 3390 3649 7007475000010000000♠47,500,001 7007509000000000000♠50,900,000 gneg
19 q 1341 3649 3770 7007509000010000000♠50,900,001 7007531000000000000♠53,100,000 gpos 25
19 q 1342 3770 3938 7007531000010000000♠53,100,001 7007558000000000000♠55,800,000 gneg
19 q 1343 3938 4120 7007558000010000000♠55,800,001 7007586176160000000♠58,617,616 gpos 25

References

  1. ^ "Human Genome Assembly GRCh38 - Genome Reference Consortium" National Center for Biotechnology Information 2013-12-24 Retrieved 2017-03-04 
  2. ^ a b "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 
  3. ^ Tom Strachan; Andrew Read 2 April 2010 Human Molecular Genetics Garland Science p 45 ISBN 978-1-136-84407-2 
  4. ^ a b Genome Decoration Page, NCBI Ideogram data for Homo sapience 850 bphs, Assembly GRCh38p3 Last update 2014-06-03 Retrieved 2017-04-26
  5. ^ Pertea M, Salzberg SL 2010 "Between a chicken and a grape: estimating the number of human genes" Genome Biol 11 5: 206 doi:101186/gb-2010-11-5-206 PMC 2898077  PMID 20441615 
  6. ^ "Statistics & Downloads for chromosome 19" HUGO Gene Nomenclature Committee 2017-05-12 Retrieved 2017-05-19 
  7. ^ "Chromosome 19: Chromosome summary - Homo sapiens" Ensembl Release 88 2017-03-29 Retrieved 2017-05-19 
  8. ^ "Human chromosome 19: entries, gene names and cross-references to MIM" UniProt 2018-02-28 Retrieved 2018-03-16 
  9. ^ "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 
  10. ^ "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 
  11. ^ "Search results - 19[CHR] AND "Homo sapiens"[Organism] AND "genetype pseudo"[Properties] AND alive[prop] - Gene" NCBI 2017-05-19 Retrieved 2017-05-20 
  12. ^ 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:101046/j1469-180920006430189x PMC 3376086  PMID 11409409 
  13. ^ a b Dean, L 2005 "Ch 5: The ABO blood group" Blood Groups and Red Cell Antigens Bethesda MD: National Center for Biotechnology Information NBK2261 
  14. ^ Gilbert F 1997 "Disease genes and chromosomes: disease maps of the human genome Chromosome 19" Genet Test 1 2: 145–9 doi:101089/gte19971145 PMID 10464639 
  15. ^ "OMIM Entry - # 613845 - HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME; HUPRAS" wwwomimorg Retrieved 20 January 2017 
  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 
  17. ^ Genome Decoration Page, NCBI Ideogram data for Homo sapience 400 bphs, Assembly GRCh38p3 Last update 2014-03-04 Retrieved 2017-04-26
  18. ^ Genome Decoration Page, NCBI Ideogram data for Homo sapience 550 bphs, Assembly GRCh38p3 Last update 2015-08-11 Retrieved 2017-04-26
  19. ^ 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 
  20. ^ Sethakulvichai, W; Manitpornsut, S; Wiboonrat, M; Lilakiatsakun, W; Assawamakin, A; Tongsima, S 2012 "Estimation of band level resolutions of human chromosome images" PDF In Computer Science and Software Engineering JCSSE, 2012 International Joint Conference on: 276–282 doi:101109/JCSSE20126261965 
  21. ^ Genome Decoration Page, NCBI Ideogram data for Homo sapience 850 bphs, Assembly GRCh38p3 Last update 2014-06-03 Retrieved 2017-04-26
  22. ^ "p": Short arm; "q": Long arm
  23. ^ For cytogenetic banding nomenclature, see article locus
  24. ^ 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
  25. ^ 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
  • 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 doi:101038/nature02399 PMID 15057824 
  • Human Proteome Project Launch website~ https://webarchiveorg/web/20110726163128/http://wwwhupoorg/research/hpp/HPP_legrain_sep_2010pdf

External links

  • National Institutes of Health "Chromosome 19" Genetics Home Reference Retrieved 2017-05-06 
  • "Chromosome 19" Human Genome Project Information Archive 1990–2003 Retrieved 2017-05-06 

chromosome 19, chromosome 19 abnormalities, chromosome 19 ataxia early signs, chromosome 19 disorders, chromosome 19 duplication, chromosome 19 effect on eye color, chromosome 19 familial hypercholesterolemia, chromosome 19 genes, chromosome 19 traits, chromosome 19p13.3


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