Chromosome 8 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 8 spans about 145 million base pairs (the building material of DNA) and represents between 4.5 and 5.0% 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 5%, with one estimate giving 2,152 genes, and the other estimate giving 2,047 genes.
About 8% of its genes are involved in brain development and function, and about 16% are involved in cancer. A unique feature of 8p is a region of about 15 megabases that appears to have a high mutation rate. This region shows an significant divergence between human and chimpanzee, suggesting that its high mutation rates have contributed to the evolution of the human brain.
The following are some of the genes located on chromosome 8:
AEG1 : Astrocyte Elevated Gene (linked to hepatocellular carcinoma and neuroblastoma)
ANK1: ankyrin 1, erythrocytic
Arc/Arg3.1
ASAH1: N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASPH: encoding enzyme Aspartyl/asparaginyl beta-hydroxylase
AZIN1: encoding protein Antizyme inhibitor 1
C8orf4: encoding protein Uncharacterized protein C8orf4
C8orf32/WDYHV1: encoding enzyme Protein N-terminal glutamine amidohydrolase
C8orf46: encoding protein Chromosome 8 open reading frame 46 (C8orf46)
CHD7: chromodomain helicase DNA binding protein 7
CHRNA2: cholinergic receptor, nicotinic, alpha 2 (neuronal)
CLN8: ceroid-lipofuscinosis, neuronal 8
CNGB3: cyclic nucleotide gated channel beta 3
CYP11B1: cytochrome P450, family 11, subfamily B, polypeptide 1
CYP11B2: cytochrome P450, family 11, subfamily B, polypeptide 2
DPYS: dihydropyrimidinase
COH1
ESCO2: establishment of sister chromatid cohesion N-acetyltransferase 2
EXT1: exostosin glycosyltransferase 1
EYA1: EYA transcriptional coactivator and phosphatase 1
FAM83H: family with sequence similarity 83, member H
FGFR1: fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome)
GDAP1: ganglioside-induced differentiation-associated protein 1
GDF6: growth differentiation factor 6
GLI4: encoding protein Gli family zinc finger 4
HGSNAT: heparan-alpha-glucosaminide N-acetyltransferase
KCNQ3: potassium channel, voltage gated KQT-like subfamily Q, member 3.
KIAA0196: KIAA0196
LPL: lipoprotein lipase
MCPH1: microcephaly, primary autosomal recessive 1
NBN: nibrin
NDRG1: N-myc downstream regulated gene 1
NEF3: neurofilament 3 (150kDa medium)
NEFL: neurofilament, light polypeptide 68kDa
PDP1: pyruvate dehydrogenase phosphatase catalytic subunit 1
PLEC: plectin
RECQL4: RecQ protein-like 4
RUNX1T1: runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
SFTPC: surfactant protein C
SLC20A2: Sodium-dependent phosphate transporter 2
SLURP1: secreted LY6/PLAUR domain containing 1
SNAI2: snail homolog 2 (Drosophila)
TG: thyroglobulin
THAP1: THAP domain containing, apoptosis associated protein 1
TMEM67: encoding protein Meckelin
TNFRSF11B: tumor necrosis factor receptor superfamily, member 11b
TPA: tissue plasminogen activator
TRPS1: trichorhinophalangeal syndrome I
VMAT1: vesicular monoamine transporter protein
VPS13B: vacuolar protein sorting 13 homolog B (yeast)
WRN: Werner syndrome
GULOP pseudogene: responsible for human inability to produce Vitamin C
Diseases and disorders
The following diseases and disorders are some of those related to genes on chromosome 8:
8p23.1 duplication syndrome
Burkitt's lymphoma
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type 2
Charcot-Marie-Tooth disease, type 4
COACH Syndrome
Cleft lip and palate
Cohen syndrome
Congenital hypothyroidism
Fahr's syndrome
Hereditary Multiple Exostoses
Lipoprotein lipase deficiency, familial
Pfeiffer syndrome
Primary microcephaly
Rothmund-Thomson syndrome, or poikiloderma congenitale
Schizophrenia, associated with 8p21-22 locus
Waardenburg syndrome
Werner syndrome
Pingelapese blindness
Langer-Giedion syndrome
Roberts Syndrome
