What is Chromosome 5?

By Dr Ananya Mandal, MD

Chromosome 5 is the fifth largest chromosome of the 23 chromosomal pairs in humans and represents nearly 6% of the total DNA. Despite being one of the largest chromosomes, chromosome 5 has a low gene density due to a significant proportion of the chromosome having non-coding gene regions.

Chromosone 5 contains approximately 1700 genes and approximately 180 million base pairs, of which over 95% have been determined. Image Credit: NI
Chromosone 5 contains approximately 1700 genes and approximately 180 million base pairs, of which over 95% have been determined. Image Credit: NIH


Chromosome 5 is submetacentric. This means that the centromere that usually forms the central point of a chromosome, lies away from the centre, making one arm of the chromosome longer than the other. The chromosome shares a 99% similarity with chromosome 5 found in chimpanzees.

Human Genome Project

Chromosome 5 is the 12th chromosome to have completed gene sequencing in the Human Genome Project. It comprises 9 million base pairs that make up 923 genes. Sixty-six of the genes are known to be involved in human disease if they are mutated. Chromosome 5 also contains clusters of genes that code for the immune signalling molecules, interleukins.  

Chromosome 5 genes

Some of the genes present on chromosome 5 include:

  • ADAMTS2 that codes for metallopeptidase with thrombospondin motifs-2
  • APC that stands for adenomatosis polyposis coli or colonic polyps
  • EGR1 that codes for early growth response protein 1
  • DTDST that codes for diastrophic dysplasia sulfate transporter
  • ERCC8 that codes for excision repair cross-complementing rodent repair deficiency, complementation group 8
  • FGFR4 that codes for fibroblast growth factor receptor 4
  • GM2A that codes for GM2 ganglioside activator
  • HEXB that codes for hexosaminidase B (beta polypeptide)
  • MCCC2 that codes for methylcrotonoyl-Coenzyme A carboxylase 2 (beta)
  • MTRR that codes for 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
  • NIPBL that codes for Nipped-B homolog (Drosophila or fruit fly)
  • NSD1 that codes for nuclear receptor binding SET domain protein
  • SLC22A5 that codes for solute carrier family22, member 5
  • SLC26A2 that codes for solute carrier family 26, member 2
  • SMN1 that codes for survival motor neuron 1
  • SMN2 that codes for survival motor neuron 2
  • SNCAIP that codes for synuclein, alpha interacting protein
  • TGFBI that codes for transforming growth factor, beta-induced
  • TCOF1 that codes for Treacher Collins-Franceschetti syndrome 1
  • FGF1 that codes for fibroblast growth factor 1

Reviewed by , BSc

Further Reading

Last Updated: Feb 6, 2014

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