Chromosome 5 (human)

Chromosome 5 (human)

Human chromosome 5 pair after G-banding.
One is from mother, one is from father.

Chromosome 5 pair in human male karyogram.
Length (bp) 181,538,259 bp
Number of genes 1,892
Type Autosome
Centromere position Submetacentric[1]
RefSeq NC_000005
GenBank CM000667
Map of Chromosome 5
Ideogram of human chromosome 5. Mbp means mega base pair. See locus for other notation.

Chromosome 5 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 5 spans about 181 million base pairs (the building blocks of DNA) and represents almost 6% of the total DNA in cells. Chromosome 5 is the 5th largest human chromosomes, yet has one of the lowest gene densities. This is partially explained by numerous gene-poor regions that display a remarkable degree of non-coding and syntenic conservation with non-mammalian vertebrates, suggesting they are functionally constrained.[2]

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 5 likely contains between 900 and 1,300 genes.

Because chromosome 5 is responsible for many forms of growth and development (cell divisions) changes may cause cancers. One example would be acute myeloid leukemia (AML).[3]


The following are some of the genes located on chromosome 5:

Diseases and disorders

The following are some of the diseases related to genes located on chromosome 5:

Chromosomal conditions

The following conditions are caused by changes in the structure or number of copies of chromosome 5:

Researchers have defined narrow regions of the short arm of chromosome 5 that are associated with particular features of cri-du-chat syndrome. A specific region designated 5p15.3 is associated with a cat-like cry, and a nearby region called 5p15.2 is associated with mental retardation, small head (microcephaly), and distinctive facial features.


  1. "Table 2.3: Human chromosome groups". Human Molecular Genetics (2nd ed.). Garland Science. 1999.
  2. Home - Homo sapiens
  3. "Chromosome 5". Genetics Home Reference. Lister Hill National Center for Biomedical Communications. U.S. National Library of Medicine. December 2014.
  4. Cornish K, Bramble D; Bramble (2002). "Cri du chat syndrome: genotype-phenotype correlations and recommendations for clinical management". Dev Med Child Neurol. 44 (7): 494–7. doi:10.1017/S0012162201002419. PMID 12162388.
  5. Wu Q, Niebuhr E, Yang H, Hansen L; Niebuhr; Yang; Hansen (2005). "Determination of the 'critical region' for cat-like cry of Cri-du-chat syndrome and analysis of candidate genes by quantitative PCR". Eur J Hum Genet. 13 (4): 475–85. doi:10.1038/sj.ejhg.5201345. PMID 15657623.
  6. Zhang X, Snijders A, Segraves R, Zhang X, Niebuhr A, Albertson D, Yang H, Gray J, Niebuhr E, Bolund L, Pinkel D; Snijders; Segraves; Zhang; Niebuhr; Albertson; Yang; Gray; Niebuhr; Bolund; Pinkel (2005). "High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization". Am J Hum Genet. 76 (2): 312–26. doi:10.1086/427762. PMC 1196376Freely accessible. PMID 15635506.
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