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Chromosome 18

Human chromosome


Human chromosome

FieldValue
imageHuman male karyotpe high resolution - Chromosome 18 cropped.png
captionHuman chromosome 18 pair after G-banding.
One is from mother, one is from father.
image2Human male karyotpe high resolution - Chromosome 18.png
caption2Chromosome 18 pair
in human male karyogram.
length_bp80,542,538 bp
(CHM13)
genes261 (CCDS)
typeAutosome
centromere_positionSubmetacentric
(18.5 Mbp)
chr18
ensembl_id18
entrez_id18
ncbi_id18
ucsc_id18
refseq_idNC_000018
genbank_idCM000680

One is from mother, one is from father. in human male karyogram. (CHM13) (18.5 Mbp) Chromosome 18 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 18 spans about 80 million base pairs (the building material of DNA) and represents about 2.5 percent of the total DNA in cells.

Genes

Number of genes

The following are some of the gene count estimates of human chromosome 18. 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.

Estimated byProtein-coding genesNon-coding RNA genesPseudogenesSourceRelease date
CCDS2612016-09-08
HGNC2621382412017-05-12
Ensembl2686082472017-03-29
UniProt2762018-02-28
NCBI2854323042017-05-19

Gene list

The following is a partial list of genes on human chromosome 18. For complete list, see the link in the infobox on the right.

  • ASXL3: encoding protein Additional sex combs like 3 (Drosophila)
  • C18orf63: encoding protein Chromosome 18 open reading frame 63
  • CABLES1: encoding protein CDK5 and ABL1 enzyme substrate 1
  • CABYR: Calcium-binding tyrosine phosphorylation-regulated protein
  • CHMP1B: Charged multivesicular body protein 1b
  • CXXC1: CXXC-type zinc finger protein 1
  • DCC: Deleted in Colorectal Cancer
  • DIPK1C: encoding protein Divergent protein kinase domain 1C
  • ELAC1: elaC ribonuclease Z 1
  • ESCO1: encoding protein Establishment of sister chromatid cohesion N-acetyltransferase 1
  • FECH: ferrochelatase (protoporphyria)
  • GREB1L: encoding protein Growth regulation by estrogen in breast cancer-like
  • HAUS1: HAUS augmin-like complex subunit 1
  • HDHD2: encoding enzyme Haloacid dehalogenase-like hydrolase domain-containing protein 2
  • IER3IP1: encoding protein Immediate early response 3-interacting protein 1
  • MIR133A1: encoding microRNA MicroRNA 133a-1
  • MIR187: encoding protein MicroRNA 187
  • MRCL3: encoding protein Myosin regulatory light chain 12A
  • NAPG: encoding protein Gamma-soluble NSF attachment protein
  • NOL4: encoding protein Nucleolar protein 4
  • NPC1: Niemann-Pick disease, type C1
  • PIGN: encoding protein Phosphatidylinositol glycan anchor biosynthesis, class N
  • PSTPIP2: encoding enzyme Proline-serine-threonine phosphatase-interacting protein 2
  • RP11-267C16.1: non-coding
  • SERPINB10: encoding protein Serpin peptidase inhibitor, clade B (ovalbumin), member 10
  • SIGLEC15: encoding protein Sialic acid binding Ig-like lectin 15
  • SMAD4: SMAD, mothers against DPP homolog 4 (Drosophila)
  • TMEM241: encoding protein Transmembrane protein 241
  • TTC39C: encoding protein Tetratricopeptide repeat protein 39C
  • TWSG1: encoding protein Twisted gastrulation protein homolog 1
  • ZCCHC2: encoding protein Zinc finger CCHC domain-containing protein 2
  • ZFP161: encoding protein Zinc finger protein 161 homolog
  • ZNF236: encoding protein Zinc finger protein 236
  • ZNF516: encoding protein Zinc finger protein 516
  • ZNF521: encoding protein Zinc finger protein 521
  • ZNF532: encoding protein Zinc finger protein 532

Diseases and disorders

The following diseases are some of those related to genes on chromosome 18:

  • Erythropoietic protoporphyria
  • Hereditary hemorrhagic telangiectasia
  • Niemann–Pick disease type C
  • Porphyria
  • Selective mutism
  • Edwards syndrome (trisomy 18)
  • Tetrasomy 18p
  • Monosomy 18p
  • Pitt–Hopkins syndrome 18q21
  • Distal 18q- (distal deletion)
  • Proximal 18q- (proximal deletion)

Cytogenetic band

Chr.ArmBandISCN
startISCN
stopBasepair
startBasepair
stopStainDensity
18p11.320159gneg
18p11.31159430gpos50
18p11.23430526gneg
18p11.22526685gpos25
18p11.216851035gneg
18p11.110351290acen
18q11.112901561acen
18q11.215611847gneg
18q12.118472229gpos100
18q12.222292436gneg
18q12.324362755gpos75
18q21.127553153gneg
18q21.231533392gpos75
18q21.3133923519gneg
18q21.3235193663gpos50
18q21.3336633758gneg
18q22.137584077gpos100
18q22.240774204gneg
18q22.342044411gpos25
18q2344114650gneg

References

References

  1. (2 April 2010). "Human Molecular Genetics". Garland Science.
  2. Genome Decoration Page, NCBI. [https://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_850_V1 Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3)]. Last update 2014-06-03. Retrieved 2017-04-26.
  3. Pertea M, Salzberg SL. (2010). "Between a chicken and a grape: estimating the number of human genes.". Genome Biol.
  4. (2016-09-08). "Search results - 18[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene".
  5. (2017-05-12). "Statistics & Downloads for chromosome 18".
  6. (2017-03-29). "Chromosome 18: Chromosome summary - Homo sapiens".
  7. (2018-02-28). "Human chromosome 18: entries, gene names and cross-references to MIM".
  8. (2017-05-19). "Search results - 18[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene".
  9. (2017-05-19). "Search results - 18[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".
  10. (2017-05-19). "Search results - 18[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene".
  11. "chromosome18".
  12. Genome Decoration Page, NCBI. [https://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_400_V1 Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3)]. Last update 2014-03-04. Retrieved 2017-04-26.
  13. Genome Decoration Page, NCBI. [https://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_550_V1 Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3)]. Last update 2015-08-11. Retrieved 2017-04-26.
  14. International Standing Committee on Human Cytogenetic Nomenclature. (2013). "ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013)". Karger Medical and Scientific Publishers.
  15. (2012). "2012 Ninth International Conference on Computer Science and Software Engineering (JCSSE)".
  16. Genome Decoration Page, NCBI. [https://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_850_V1 Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3)]. Last update 2014-06-03. Retrieved 2017-04-26.
  17. "'''p'''": Short arm; "'''q'''": Long arm.
  18. For cytogenetic banding nomenclature, see article [[Locus (genetics). locus]].
  19. 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]].
  20. '''gpos''': Region which is positively stained by [[G banding]], generally [[GC-content. AT-rich]] and gene poor; '''gneg''': Region which is negatively stained by G banding, generally [[GC-content. CG-rich]] and gene rich; '''acen''' [[Centromere]]. '''var''': Variable region; '''stalk''': Stalk.
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