Chromosome 4 (human)

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Chromosome 4 (human)
Human male karyotpe high resolution - Chromosome 4 cropped.png
Human chromosome 4 pair after G-banding. One is from mother, one is from father.
Human male karyotpe high resolution - Chromosome 4.png
Chromosome 4 pair in human male karyogram.
Length (bp) 190,214,555 bp
Number of genes 2,441[1]
Type Autosome
Centromere position Submetacentric[3]
RefSeq NC_000004
GenBank CM000666
Map of Chromosome 4
Ideogram of human chromosome 4. Mbp means mega base pair. See locus for other notation.

Chromosome 4 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 4 spans more than 186 million base pairs (the building material of DNA) and represents between 6 and 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 genome annotation their predictions of the number of genes on each chromosome varies. In January 2017, two estimates differed by 12%, with one estimate giving 2,441[1] genes, and the other estimate giving 2,164[2] genes.


The chromosome is ~191 megabases in length. In a 2012 paper, seven hundred and fifty seven protein encoding genes were identified on this chromosome.[4] Two-hundred and eleven (27.9%) of these coding sequences did not have any experimental evidence at the protein level, in 2012. Two-hundred and seventy one appear to be membrane proteins. Fifty-four have been classified as cancer associated proteins.


The following are some of the genes located on chromosome 4:

Diseases and disorders[edit]

The following are some of the diseases related to genes located on chromosome 4:


  • Goldfrank D, Schoenberger E, Gilbert F; Schoenberger; Gilbert (2003). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 4". Genet Test. 7 (4): 351–72. doi:10.1089/109065703322783752. PMID 15000816. 
  • Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Lou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinawalla AT, Teddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Pork P, Suyama M, Torrents D, Waterston RH, Wilson RK; Graves; Fulton; Fulton; Pepin; Minx; Wagner-Mcpherson; Layman; Wylie; Sekhon; Becker; Fewell; Delehaunty; Miner; Nash; Kremitzki; Oddy; Du; Sun; Bradshaw-Cordum; Ali; Carter; Cordes; Harris; Isak; Van Brunt; Nguyen; Du; Courtney; et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature. 434 (7034): 724–31. Bibcode:2005Natur.434..724H. doi:10.1038/nature03466. PMID 15815621. 
  1. ^ a b "Homo sapiens (human) Chromosome 4". NCBI Map Viewer. National Center for Biotechnology Information. Retrieved January 20, 2017. 
  2. ^ a b "Homo sapiens: Chromosome summary: Chromosome :1-190214555". Wellcome Trust Sanger Institute. Vega Genome Browser 58. Retrieved January 20, 2017. 
  3. ^ "Table 2.3: Human chromosome groups". Human Molecular Genetics (2nd ed.). Garland Science. 1999. 
  4. ^ Chen LC, Liu MY, Hsiao YC, Choong WK, Wu HY, Hsu WL, Liao PC, Sung TY, Tsai SF, Yu JS, Chen YJ (2012) Decoding the disease-associated proteins encoded in the human chromosome 4. J Proteome Res
  5. ^ Lemmers, Richard; Patrick J. van der Vliet, Rinse Klooster, Sabrina Sacconi, Pilar Camaño, Johannes G. Dauwerse, Lauren Snider, Kirsten R. Straasheijm, Gert Jan van Ommen, George W. Padberg, Daniel G. Miller, Stephen J. Tapscott, Rabi Tawil, Rune R. Frants, and Silvère M. van der Maarel; Klooster, Rinse; Sacconi, Sabrina; Camaño, Pilar; Dauwerse, Johannes G.; Snider, Lauren; Straasheijm, Kirsten R.; Jan Van Ommen, Gert; Padberg, George W.; Miller, Daniel G.; Tapscott, Stephen J.; Tawil, Rabi; Frants, Rune R.; Van Der Maarel, Silvère M. (19 August 2010). "A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy". Science. 329 (5999): 1650–3. Bibcode:2010Sci...329.1650L. doi:10.1126/science.1189044. PMID 20724583.