Chromosome 4 Explained

Length Bp:	193,574,945 bp (CHM13)
Genes:	727 (CCDS)
Type:	Autosome
Centromere Position:	Submetacentric^[1] (50.0 Mbp^[2])
Chr:	4
Ensembl Id:	4
Entrez Id:	4
Ncbi Id:	4
Ucsc Id:	4
Refseq Id:	NC_000004
Genbank Id:	CM000666

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 190 million base pairs (the building material of DNA) and represents between 6 and 6.5 percent of the total DNA in cells.

Genomics

The chromosome is ~193 megabases in length. In a 2012 paper, 775 protein-encoding genes were identified on this chromosome.^[3] 211 (27.9%) of these coding sequences did not have any experimental evidence at the protein level, in 2012. 271 appear to be membrane proteins. 54 have been classified as cancer-associated proteins.

Genes

Number of genes

The following are some of the gene count estimates of human chromosome 4. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project (CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.^[4]

Estimated by	Protein-coding genes	Non-coding RNA genes	Pseudogenes	Source	Release date
	727	—	—	^[5]	2016-09-08
HGNC	731	277	633	^[6]	2017-05-12
	746	993	727	^[7]	2017-03-29
	765	—	—	^[8]	2018-02-28
	769	934	819	^[9] ^[10] ^[11]	2017-05-19

Gene list

The following is a partial list of genes on human chromosome 4. For complete list, see the link in the infobox on the right.

Diseases and disorders

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

• Achondroplasia
• Autosomal dominant polycystic kidney disease (PKD-2)
• Bladder cancer
• Crouzonodermoskeletal syndrome
• Chronic lymphocytic leukemia
• Congenital central hypoventilation syndrome
• Ellis–Van Creveld syndrome
• Facioscapulohumeral muscular dystrophy
• Fibrodysplasia ossificans progressiva (FOP)
• Haemophilia C
• Huntington's disease
• Hemolytic uremic syndrome
• Hereditary benign intraepithelial dyskeratosis
• Hirschprung's disease
• Hypochondroplasia
• Mast cell activation syndrome
• Methylmalonic acidemia
• Mucopolysaccharidosis type I
• Muenke syndrome
• Nonsyndromic deafness
• Nonsyndromic deafness, autosomal dominant
• Parkinson's disease
• Polycystic kidney disease
• Romano–Ward syndrome
• SADDAN
• Tetrahydrobiopterin deficiency
• Thanatophoric dysplasia
  • Type 1
  • Type 2
• Wolfram syndrome
• Wolf–Hirschhorn syndrome

Cytogenetic band

G-bands of human chromosome 4 in resolution 850 bphs^[12] ! Chr. ! Arm^[13] ! Band^[14] ! ISCN
start^[15] ! ISCN
stop! Basepair
start ! Basepair
stop ! Stain^[16] ! Density

4

p

16.3

0

220

Notes and References

1. Book: Tom Strachan. Andrew Read. Human Molecular Genetics. 2 April 2010. Garland Science. 978-1-136-84407-2. 45.
2. Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
3. 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
4. Pertea M, Salzberg SL. Between a chicken and a grape: estimating the number of human genes. . Genome Biol . 2010 . 11 . 5 . 206 . 20441615 . 10.1186/gb-2010-11-5-206 . 2898077 . free .
5. Web site: Search results - 4[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene . NCBI . CCDS Release 20 for Homo sapiens . 2016-09-08 . 2017-05-28.
6. Web site: Statistics & Downloads for chromosome 4 . HUGO Gene Nomenclature Committee . 2017-05-12 . 2017-05-19 . 2017-06-29 . https://web.archive.org/web/20170629121434/http://www.genenames.org/cgi-bin/statistics?c=4 . dead .
7. Web site: Chromosome 4: Chromosome summary - Homo sapiens . Ensembl Release 88 . 2017-03-29 . 2017-05-19.
8. Web site: Human chromosome 4: entries, gene names and cross-references to MIM . UniProt . 2018-02-28 . 2018-03-16.
9. Web site: Search results - 4[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene . NCBI . 2017-05-19 . 2017-05-20.
10. Web site: Search results - 4[CHR] AND "Homo sapiens"[Organism] AND (("genetype miscrna"[Properties] OR "genetype ncrna"[Properties] OR "genetype rrna"[Properties] OR "genetype trna"[Properties] OR "genetype scrna"[Properties] OR "genetype snrna"[Properties] OR "genetype snorna"[Properties]) NOT "genetype protein coding"[Properties] AND alive[prop]) - Gene . NCBI . 2017-05-19 . 2017-05-20.
11. Web site: Search results - 4[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene . NCBI . 2017-05-19 . 2017-05-20.
12. Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
13. "p": Short arm; "q": Long arm.
14. For cytogenetic banding nomenclature, see article locus.
15. These values (ISCN start/stop) are based on the length of bands/ideograms from the ISCN book, An International System for Human Cytogenetic Nomenclature (2013). Arbitrary unit.
16. gpos: Region which is positively stained by G banding, generally AT-rich and gene poor; gneg: Region which is negatively stained by G banding, generally CG-rich and gene rich; acen Centromere. var: Variable region; stalk: Stalk.