Chromosome 3 (human)

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Chromosome 3 (human)
Human male karyotpe high resolution - Chromosome 3 cropped.png
Human chromosome 3 pair after G-banding. One is from mother, one is from father.
Human male karyotpe high resolution - Chromosome 3.png
Chromosome 3 pair in human male karyogram.
Length (bp) 198,295,559 bp
Number of genes 2,203
Type Autosome
Centromere position Metacentric [1]
RefSeq NC_000003
GenBank CM000665
Map of Chromosome 3
Ideogram of human chromosome 3. Mbp means mega base pair. See locus for other notation.

Chromosome 3 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 3 spans almost 200 million base pairs (the building material of DNA) and represents about 6.5 percent 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 3 likely contains between 1,100 and 1,500 genes.


The following are some of the genes located on chromosome 3:


  • ALAS1: aminolevulinate, delta-, synthase 1
  • BTD: biotinidase
  • CACNA2D3: calcium channel, voltage-dependent, alpha 2/delta subunit 3
  • CCR5: chemokine (C-C motif) receptor 5
  • CNTN4: Contactin 4
  • COL7A1: Collagen, type VII, alpha 1 (epidermolysis bullosa, dystrophic, dominant and recessive)
  • C3orf14-Chromosome 3 open reading frame 14: predicted DNA binding protein.
  • MITF: microphthalmia-associated transcription factor
  • MLH1: mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
  • OXTR: oxytocin receptor
  • PTHR1: parathyroid hormone receptor 1
  • SCN5A: sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)
  • SLC25A20: solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
  • TMIE: transmembrane inner ear
  • VHL: von Hippel-Lindau tumor suppressor
  • FOXP1: Forkhead Box Protein P1
  • CRBN: Cereblon protein[2]


  • ADIPOQ: adiponectin
  • CAMPD1: Camptodactyly
  • CPOX: coproporphyrinogen oxidase (coproporphyria, harderoporphyria)
  • HGD: homogentisate 1,2-dioxygenase (homogentisate oxidase)
  • IFT122: intraflagellar transport gene 122
  • MCCC1: methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)
  • PCCB: propionyl Coenzyme A carboxylase, beta polypeptide
  • PDCD10: programmed cell death 10
  • PIK3CA: phosphoinositide-3-kinase, catalytic, alpha polypeptide
  • RAB7: RAB7, member RAS oncogene family
  • RHO: rhodopsin visual pigment
  • SOX2: transcription factor
  • USH3A: Usher syndrome 3A
  • ZNF9: zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)

Diseases & disorders[edit]

The following diseases and disorders are some of those related to genes on chromosome 3:


  1. ^ "Table 2.3: Human chromosome groups". Human Molecular Genetics (2nd ed.). Garland Science. 1999. 
  2. ^ CRBN cereblon [Homo sapiens (human)] - Gene - NCBI