Chromosome 4 (human)

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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 predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 4 likely contains between 700 and 1,100 genes.

Genes

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

ANK2: ankyrin 2, neuronal
CXCL1: chemokine (C-X-C motif) ligand 1, scyb1
CXCL2: chemokine (C-X-C motif) ligand 2, scyb2
CXCL3: chemokine (C-X-C motif) ligand 3, scyb3
CXCL4: chemokine (C-X-C motif) ligand 4, Platelet factor-4, PF-4, scyb4
CXCL5: chemokine (C-X-C motif) ligand 5, scyb5
CXCL6: chemokine (C-X-C motif) ligand 6, scyb6
CXCL7: chemokine (C-X-C motif) ligand 7, PPBP, scyb7
CXCL8: chemokine (C-X-C motif) ligand 8, interleukin 8 (IL-8), scyb8
CXCL9: chemokine (C-X-C motif) ligand 9, scyb9
CXCL10: chemokine (C-X-C motif) ligand 10, scyb10
CXCL11: chemokine (C-X-C motif) ligand 11, scyb11
CXCL13: chemokine (C-X-C motif) ligand 13, scyb13
EVC: Ellis van Creveld syndrome
EVC2: Ellis van Creveld syndrome 2 (limbin)
FGFR3: fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism, bladder cancer)
FGFRL1: fibroblast growth factor receptor-like 1
Complement Factor I: Complement Factor I
HD: huntingtin (Huntington's disease)
MMAA: methylmalonic aciduria (cobalamin deficiency) cblA type
PKD2: polycystic kidney disease 2 (autosomal dominant)
QDPR: quinoid dihydropteridine reductase
SNCA: synuclein, alpha (non A4 component of amyloid precursor)
UCHL1: ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
WFS1: Wolfram syndrome 1 (wolframin)
FGF2: Fibroblast growth factor 2 (basic fibroblast growth factor)
KDR: Kinase insert domain receptor (Vascular endothelial growth factor receptor 2)

Diseases & disorders

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

References

Goldfrank D, Schoenberger E, Gilbert F (2003). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 4". Genet Test 7 (4): 351-72. PMID 15000816.
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