What is Chromosome 5?

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

Further Reading

Last Updated: Feb 26, 2019

Dr. Ananya Mandal

Written by

Dr. Ananya Mandal

Dr. Ananya Mandal is a doctor by profession, lecturer by vocation and a medical writer by passion. She specialized in Clinical Pharmacology after her bachelor's (MBBS). For her, health communication is not just writing complicated reviews for professionals but making medical knowledge understandable and available to the general public as well.


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