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Chromosome 3

What is chromosome 3?

Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 3, one copy inherited from each parent, form one of the pairs. Chromosome 3 spans almost 200 million base pairs (the building blocks of DNA) and represents approximately 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.

Genes on chromosome 3 are among the estimated 20,000 to 25,000 total genes in the human genome.

Genetics Home Reference includes these genes on chromosome 3:

  • ABHD5:abhydrolase domain containing 5
  • ALAS1:aminolevulinate, delta-, synthase 1
  • AMT:aminomethyltransferase
  • ATP2B2:ATPase, Ca++ transporting, plasma membrane 2
  • BTD:biotinidase
  • CLRN1:clarin 1
  • CNBP:CCHC-type zinc finger, nucleic acid binding protein
  • COL7A1:collagen, type VII, alpha 1 (epidermolysis bullosa, dystrophic, dominant and recessive)
  • CP:ceruloplasmin (ferroxidase)
  • CPOX:coproporphyrinogen oxidase
  • CRTAP:cartilage associated protein
  • DNAJC19:DnaJ (Hsp40) homolog, subfamily C, member 19
  • DRD3:dopamine receptor D3
  • EIF2B5:eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
  • FOXL2:forkhead box L2
  • HGD:homogentisate 1,2-dioxygenase (homogentisate oxidase)
  • IFT80:intraflagellar transport 80 homolog (Chlamydomonas)
  • MCCC1:methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)
  • MITF:microphthalmia-associated transcription factor
  • MLH1:mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
  • PCCB:propionyl Coenzyme A carboxylase, beta polypeptide
  • PDCD10:programmed cell death 10
  • PROK2:prokineticin 2
  • RAB7A:RAB7A, member RAS oncogene family
  • RAF1:v-raf-1 murine leukemia viral oncogene homolog 1
  • SCN5A:sodium channel, voltage-gated, type V, alpha subunit
  • SERPINI1:serpin peptidase inhibitor, clade I (neuroserpin), member 1
  • SI:sucrase-isomaltase (alpha-glucosidase)
  • SLC25A20:solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
  • TGFBR2:transforming growth factor, beta receptor II (70/80kDa)
  • TMIE:transmembrane inner ear
  • VHL:von Hippel-Lindau tumor suppressor

GeneCards provides a table of genes on chromosome 3 and disorders related to those genes (http://www.genecards.org/cgi-bin/listdiseasecards.pl?type=chrom&search=3).

There are many genetic conditions related to genes on chromosome 3.

Genetics Home Reference includes these conditions related to genes on chromosome 3:

  • aceruloplasminemia
  • alkaptonuria
  • asphyxiating thoracic dystrophy
  • biotinidase deficiency
  • blepharophimosis, ptosis, and epicanthus inversus syndrome
  • Brugada syndrome
  • carnitine-acylcarnitine translocase deficiency
  • cerebral cavernous malformation
  • Chanarin-Dorfman syndrome
  • Charcot-Marie-Tooth disease
  • congenital sucrase-isomaltase deficiency
  • dystrophic epidermolysis bullosa
  • essential tremor
  • familial encephalopathy with neuroserpin inclusion bodies
  • glycine encephalopathy
  • Kallmann syndrome
  • leukoencephalopathy with vanishing white matter
  • Lynch syndrome
  • Marfan syndrome
  • 3-methylcrotonyl-coenzyme A carboxylase deficiency
  • 3-methylglutaconic aciduria
  • myotonic dystrophy
  • nonsyndromic deafness
  • Noonan syndrome
  • osteogenesis imperfecta
  • porphyria
  • propionic acidemia
  • Romano-Ward syndrome
  • Usher syndrome
  • von Hippel-Lindau syndrome
  • Waardenburg syndrome

GeneCards provides a table of genes on chromosome 3 and disorders related to those genes (http://www.genecards.org/cgi-bin/listdiseasecards.pl?type=chrom&search=3).

Is there a standard way to diagram chromosome 3?

Geneticists use diagrams called ideograms as a standard representation for chromosomes. Ideograms show a chromosome's relative size and its banding pattern. A banding pattern is the characteristic pattern of dark and light bands that appears when a chromosome is stained with a chemical solution and then viewed under a microscope. These bands are used to describe the location of genes on each chromosome.

Ideogram of chromosome 3
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about chromosome 3?

You may find the following resources about chromosome 3 helpful. These materials are written for the general public.

  • Additional NIH Resources - National Institutes of Health
    National Human Genome Research Institute: Chromosome Abnormalities (http://www.genome.gov/11508982)
  • MedlinePlus - Health information
    Encyclopedia: Chromosome (http://www.nlm.nih.gov/medlineplus/ency/article/002327.htm)

You may also be interested in these resources, which are designed for genetics professionals and researchers.

  • Research Resources - Tools for researchers
    • Cancer Genetics Web (http://www.cancerindex.org/geneweb/clinkc03.htm)
    • Database of Genomic Variants: Chromosome 3 (http://projects.tcag.ca/variation/cgi-bin/tbrowse/tbrowse?source=hg17&table=Locus&show=table&keyword=&flop=AND&fcol=_C19&fcomp==&fkwd=chr3&cols=)
    • Ensembl Human Map View: Chromosome 3 (http://www.ensembl.org/Homo_sapiens/mapview?chr=3)
    • Oak Ridge National Laboratory: Chromosome 3 Overview (http://genome.ornl.gov/cgi-bin/GCat/GetChrom.cgi?org=human&chr=3)
    • The DNA sequence, annotation and analysis of human chromosome 3. Nature. 2006 Apr 27;440(7088):1194-8. (http://www.nature.com/nature/journal/v440/n7088/full/nature04728.html)
    • U.S. Department of Energy: Human Chromosome Launchpad (http://www.ornl.gov/sci/techresources/Human_Genome/launchpad/chrom03.shtml)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=PubMed&term=(Chromosomes,+Human,+Pair+3[MAJR])+AND+(Chromosome+3[TI])+AND+english[la]+AND+human[mh]&orig_db=PubMed&filters=ON&pmfilter_EDatLimit=1080+Days)
  • Map Viewer - Genetic maps (http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?org=human&maps=ideogr,morbid,pheno&zoom=100&chr=3)

What glossary definitions help with understanding chromosome 3?

base pair ; cell ; chromosome ; DNA ; gene

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References
  • Ensembl Human Map View: Chromosome 3 (http://www.ensembl.org/Homo_sapiens/mapview?chr=3)
  • Map Viewer: Genes on Sequence (http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?ORG=human&MAPS=ideogr,ugHs,genes&CHR=3)
  • Muzny DM, Scherer SE, Kaul R, Wang J, Yu J, Sudbrak R, Buhay CJ, Chen R, Cree A, Ding Y, Dugan-Rocha S, Gill R, Gunaratne P, Harris RA, Hawes AC, Hernandez J, Hodgson AV, Hume J, Jackson A, Khan ZM, Kovar-Smith C, Lewis LR, Lozado RJ, Metzker ML, Milosavljevic A, Miner GR, Morgan MB, Nazareth LV, Scott G, Sodergren E, Song XZ, Steffen D, Wei S, Wheeler DA, Wright MW, Worley KC, Yuan Y, Zhang Z, Adams CQ, Ansari-Lari MA, Ayele M, Brown MJ, Chen G, Chen Z, Clendenning J, Clerc-Blankenburg KP, Chen R, Chen Z, Davis C, Delgado O, Dinh HH, Dong W, Draper H, Ernst S, Fu G, Gonzalez-Garay ML, Garcia DK, Gillett W, Gu J, Hao B, Haugen E, Havlak P, He X, Hennig S, Hu S, Huang W, Jackson LR, Jacob LS, Kelly SH, Kube M, Levy R, Li Z, Liu B, Liu J, Liu W, Lu J, Maheshwari M, Nguyen BV, Okwuonu GO, Palmeiri A, Pasternak S, Perez LM, Phelps KA, Plopper FJ, Qiang B, Raymond C, Rodriguez R, Saenphimmachak C, Santibanez J, Shen H, Shen Y, Subramanian S, Tabor PE, Verduzco D, Waldron L, Wang J, Wang J, Wang Q, Williams GA, Wong GK, Yao Z, Zhang J, Zhang X, Zhao G, Zhou J, Zhou Y, Nelson D, Lehrach H, Reinhardt R, Naylor SL, Yang H, Olson M, Weinstock G, Gibbs RA. The DNA sequence, annotation and analysis of human chromosome 3. Nature. 2006 Apr 27;440(7088):1194-8. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16641997)
  • UCSC Genome Browser: Statistics from NCBI Build 35, May 2004 (http://genome.cse.ucsc.edu/goldenPath/stats.html)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Published: January 23, 2009