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Chromosome 14 (human)

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Title: Chromosome 14 (human)  
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Subject: Bradykinin receptor, Chromosomes, Chromosomal translocation, Centromere, Human genome
Collection: Chromosomes, Chromosomes (Human), Genes on Human Chromosome 14
Publisher: World Heritage Encyclopedia

Chromosome 14 (human)

Chromosome 14 (human)
Pair of human chromosome 14 (after G-banding).
One is from mother, one is from father.
Chromosome 14 pair in human male karyogram.
Length (bp) 107,043,718 bp
Number of genes 1,655
Type Autosome
Centromere position Acrocentric [1]
RefSeq NC_000014
GenBank CM000676
Map of Chromosome 14
Ideogram of human chromosome 14. Mbp means mega base pair. See locus for other notation.

Chromosome 14 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 14 spans about 107 million base pairs (the building material of DNA) and represents between 3 and 3.5% of the total DNA in cells.

Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 14 likely contains between 700 and 1,300 genes.

The centromere of chromosome 14 is positioned approximately at position 19.0-19.1 Mbp.


The following are some of the genes located on chromosome 14:

  • ATXN3: Ataxin-3 (Machado-Joseph disease)
  • COCH: coagulation factor C homolog, cochlin (Limulus polyphemus)
  • GALC: galactosylceramidase (Krabbe disease)
  • GCH1: GTP cyclohydrolase 1 (dopa-responsive dystonia)
  • IGH@: immunoglobulin heavy chain locus
  • IFT43: intraflagellar transport 43
  • MYH7: myosin heavy chain beta (MHC-β) isoform[2]
  • NPC2: Niemann-Pick disease, type C2
  • PSEN1: presenilin 1 (Alzheimer disease 3)
  • SERPINA1: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
  • TSHR: thyroid stimulating hormone receptor
  • FAM71D: Family With Sequence Similarity 71, Member D

Diseases & disorders

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


  1. ^ "Table 2.3: Human chromosome groups". Human Molecular Genetics (2nd ed.). Garland Science. 1999. 
  2. ^ Quiat D, Voelker KA, Pei J, Grishin NV, Grange RW, Bassel-Duby R, Olson EN (June 2011). "Concerted regulation of myofiber-specific gene expression and muscle performance by the transcriptional repressor Sox6". Proc. Natl. Acad. Sci. U.S.A. 108 (25): 10196–201.  
  • Campo E (2003). "Genetic and molecular genetic studies in the diagnosis of B-cell lymphomas I: mantle cell lymphoma, follicular lymphoma, and Burkitt's lymphoma". Hum Pathol 34 (4): 330–5.  
  • Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 14". Genet Test 3 (4): 379–91.  
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  • Kamnasaran D, Cox DW (2002). "Current status of human chromosome 14". J Med Genet 39 (2): 81–90.  
  • Lemire EG, Cardwell S (1999). "Unusual phenotype in partial trisomy 14". Am J Med Genet 87 (4): 294–6.  
  • van Karnebeek CD, Quik S, Sluijter S, Hulsbeek MM, Hoovers JM, Hennekam RC (2002). "Further delineation of the chromosome 14q terminal deletion syndrome". Am J Med Genet 110 (1): 65–72.  
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