Human chromosome
Chromosome 8 is one of the 23 pairs ofchromosomes inhumans . People normally have two copies of this chromosome. Chromosome 8 spans about 146 millionbase pairs (the building material ofDNA ) and represents between 4.5 and 5.0% of the total DNA incells .[ 5]
About 8% of its genes are involved inbrain development and function, and about 16% are involved incancer . A unique feature of 8p is a region of about 15 megabases that appears to have a highmutation rate . This region shows a significant divergence between human andchimpanzee , suggesting that its high mutation rates have contributed to the evolution of the human brain.[ 5]
The following are some of the gene count estimates of human chromosome 8. Because researchers use different approaches togenome annotation their predictions of thenumber of genes on each chromosome varies (for technical details, seegene 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.[ 6]
The following is a partial list of genes on human chromosome 8. For complete list, see the link in the infobox on the right.
ADHFE1 : encodingprotein Alcohol dehydrogenase, iron containing 1AEG1 : Astrocyte Elevated Gene (linked to hepatocellular carcinoma and neuroblastoma)ANK1 : ankyrin 1, erythrocyticArc/Arg3.1 ASAH1 : N-acylsphingosine amidohydrolase (acid ceramidase) 1ASPH : encodingenzyme Aspartyl/asparaginyl beta-hydroxylaseAZIN1 : encodingprotein Antizyme inhibitor 1BRF2 : transcription factor IIIB 50 kDa subunitC8orf32/WDYHV1 : encodingenzyme Protein N-terminal glutamine amidohydrolaseC8orf33 : chromosome 8,open reading frame 33C8orf34 : chromosome 8, open reading frame 34C8orf4 : encodingprotein Uncharacterized protein C8orf4C8orf48 : encodingprotein C8orf48C8orf58 : chromosome 8 open reading frame 58C8orfk29 : encoding protein TMEM249CCAT1 : colon cancer associated transcript 1CCDC166 : encoding protein Coiled-coil domain containing 166CCDC25 : coiled-coil domain containing protein 25CHD7 : chromodomain helicase DNA binding protein 7CHMP4C : Charged multivesicular body protein 4cCHRAC1 encodingprotein Chromatin accessibility complex 1CHRNA2 : cholinergic receptor, nicotinic, alpha 2 (neuronal)CLN8 : ceroid-lipofuscinosis, neuronal 8CNGB3 : cyclic nucleotide gated channel beta 3COH1 : vacuolar protein sorting 13BCPNE3 : encoding protein Copine 3CRISPLD1 : encodingprotein Cysteine rich secretory protein LCCL domain containing 1CSGALNACT1 : Chondroitin sulfate N-acetylgalactosaminyltransferase 1CTHRC1 : encodingprotein Collagen triple helix repeat containing 1CYP11B1 : cytochrome P450, family 11, subfamily B, polypeptide 1CYP11B2 : cytochrome P450, family 11, subfamily B, polypeptide 2DCSTAMP : dendrocyte expressed seven transmembrane proteinDPYS : dihydropyrimidinaseEBAG9 : Estrogen receptor binding site associated antigen 9ENTPD4 : encoding protein Ectonucleoside triphosphate diphosphohydrolase 4EPPK1 : epiplakinERICH5 : encodingprotein Glutamate rich 5ESCO2 : establishment of sister chromatid cohesion N-acetyltransferase 2EXT1 : exostosin glycosyltransferase 1EXTL3 : exostosin-like glycosyltransferase 3EYA1 : EYA transcriptional coactivator and phosphatase 1FABP9 : fatty acid binding protein 9, testisFAM167A : family with sequence similarity 167, member AFAM203B : family with sequence similarity 203, member BFAM83A : family with sequence similarity 83, member AFAM83H : family with sequence similarity 83, member HFAM84B : encoding protein Family with sequence similarity 84 member bFBXO16 : encodingprotein F-box protein 16FDFT1 : encodingprotein Farnesyl-diphosphate farnesyltransferase 1FGFR1 :fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2,Pfeiffer syndrome )FGL1 : Fibrinogen-like protein 1GDAP1 : ganglioside-induced differentiation-associated protein 1GDF6 : growth differentiation factor 6GLI4 : encoding protein Gli family zinc finger 4GPIHBP1 : GPI-anchored high density lipoprotein binding protein 1GRINA : encodingprotein Glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)GSDMC : encodingprotein Gasdermin CGULOP pseudogene: responsible for human inability to produce Vitamin CHGH1 : encoding protein Hgh1 homologHGSNAT : heparan-alpha-glucosaminide N-acetyltransferaseHMBOX1 : encodingprotein Homeobox containing 1, also known as homeobox telomere-binding protein 1 (HOT1)HRSP12 : encodingenzyme Ribonuclease UK114INTS8 : integrator complex subunit 8INTS9 : integrator complex subunit 9KBTBD11 : encoding protein Kelch repeat and btb domain containing 11KCNQ3 : potassium channel, voltage gated KQT-like subfamily Q, member 3.KIAA0196 : KIAA0196KIF13B : encodingprotein Kinesin family member 13BLACTB2 : lactamase, beta 2LAPTM4B : lysosomal-associated transmembrane protein 4BLOC642658 : encodingprotein Basic helix-loop-helix transcription factor scleraxisLPL :lipoprotein lipase LSM1 : U6 snRNA-associated Sm-like protein LSm1MAK16 : MAK16 homologMCPH1 :microcephaly , primary autosomal recessive 1MIR486-1 : encoding MicroRNA 486-1MIR548V : encoding MicroRNA 548vMIR5680 : encoding MicroRNA 5680MIR6850 : encodingprotein MicroRNA 6850MRPL13 : encodingprotein Mitochondrial ribosomal protein L13MYBL1 : encodingprotein MYB proto-oncogene like 1NBN : nibrinNDRG1 : N-myc downstream regulated gene 1NEF3 : neurofilament 3 (150kDa medium)NEFL : neurofilament, light polypeptide 68kDaODF1 : outer dense fiber protein 1OTUD6B : OTU domain containing 6BPCMTD1 : encoding protein Protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1PDP1 : pyruvate dehydrogenase phosphatase catalytic subunit 1PKIA : cAMP-dependent protein kinase inhibitor alphaPLEC : plectinPNMA2 : paraneoplastic antigen Ma2PREX2 : phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2PROSC : proline synthetase co-transcribe bacterial homolog proteinPTTG3P : encoding protein Pituitary tumor-transforming 3, pseudogenePURG : encodingprotein Purine-rich element binding protein GPVT1 : Pvt1 oncogeneRECQL4 : RecQ protein-like 4RNF5P1 : ring finger protein 5 pseudogene 1RRS1 : ribosome biogenesis regulator homologRUNX1T1 : runt-related transcription factor 1; translocated to, 1 (cyclin D-related)SFTPC : surfactant protein CSLC20A2 : Sodium-dependent phosphate transporter 2SLURP1 : secreted LY6/PLAUR domain containing 1SNAI2 : snail homolog 2 (Drosophila)SNHG6 : encoding protein Small nucleolar RNA host gene 6SPAG11B : sperm-associated antigen 11BSTAU2 : staufen double-stranded RNA binding protein 2SYBU : SyntabulinTG :thyroglobulin THAP1 : THAP domain containing, apoptosis associated protein 1TMEM67 : encodingprotein MeckelinTNFRSF11B : tumor necrosis factor receptor superfamily, member 11bTONSL : encodingprotein Tonsoku-like, DNA repair proteinTPA :tissue plasminogen activator TRMT12 : tRNA methyltransferase 12 homologTRPS1 : trichorhinophalangeal syndrome ITSPYL5 (gene) : encoding protein TSPY like 5TTI2 : encodingprotein TELO2 interacting protein 2VCPIP1 : valosin containing protein/p47 complex interacting protein 1VXN : encoding vexinVMAT1 :vesicular monoamine transporter proteinVPS13B : vacuolar protein sorting 13 homolog B (yeast)VPS37A : vacuolar protein sorting 37 homolog AWRN :Werner syndrome XKR9 : encoding protein Xk related 9YTHDF3 : YTH N6-methyladenosine RNA binding protein 3ZFP41 : encodingprotein ZFP41 zinc finger proteinZHX2 : zinc fingers and homeoboxes protein 2ZMAT4 : zinc finger matrin-type 4ZNF16 : zinc finger protein 16ZNF395 : encodingprotein Zinc finger protein 395ZNF517 : encodingprotein Zinc finger protein 517ZNF696 : encodingprotein Zinc finger protein 696ZNF703 : zinc finger protein 703ZNF706 : zinc finger protein 706ZNF707 : encodingprotein Zinc finger protein 707Diseases and disorders [ edit ] The following diseases and disorders are some of those related to genes on chromosome 8:
Rearrangements involving the short arm of Chromosome 8 (8p) can be highly variable in size and gene content, resulting in a wide range of phenotypes including epilepsy, autism, hypotonia, gastrointestinal dysfunction, and congenital heart defects.[ 17] [ 18] [ 19]
G-banding ideograms of human chromosome 8
G-banding ideogram of human chromosome 8 in resolution 850 bphs. Band length in this diagram is proportional to base-pair length. This type of ideogram is generally used in genome browsers (e.g.
Ensembl ,
UCSC Genome Browser ).
G-banding patterns of human chromosome 8 in three different resolutions (400,
[ 20] 550
[ 21] and 850
[ 4] ). Band length in this diagram is based on the ideograms from ISCN (2013).
[ 22] This type of ideogram represents actual relative band length observed under a microscope at the different moments during the
mitotic process .
[ 23] G-bands of human chromosome 8 in resolution 850 bphs[ 4] Chr. Arm[ 24] Band[ 25] ISCN[ 26] ISCN[ 26] Basepair Basepair Stain[ 27] Density 8 p 23.3 0 115 gneg 8 p 23.2 115 331 gpos 75 8 p 23.1 331 690 gneg 8 p 22 690 992 gpos 100 8 p 21.3 992 1179 gneg 8 p 21.2 1179 1380 gpos 50 8 p 21.1 1380 1639 gneg 8 p 12 1639 1897 gpos 75 8 p 11.23 1897 2041 gneg 8 p 11.22 2041 2156 gpos 25 8 p 11.21 2156 2343 gneg 8 p 11.1 2343 2472 acen 8 q 11.1 2472 2645 acen 8 q 11.21 2645 2817 gneg 8 q 11.22 2817 3033 gpos 75 8 q 11.23 3033 3277 gneg 8 q 12.1 3277 3493 gpos 50 8 q 12.2 3493 3622 gneg 8 q 12.3 3622 3809 gpos 50 8 q 13.1 3809 3938 gneg 8 q 13.2 3938 4096 gpos 50 8 q 13.3 4096 4312 gneg 8 q 21.11 4312 4545 gpos 100 8 q 21.12 4545 4628 gneg 8 q 21.13 4628 4858 gpos 75 8 q 21.2 4858 4959 gneg 8 q 21.3 4959 5289 gpos 100 8 q 22.1 5289 5577 gneg 8 q 22.2 5577 5692 gpos 25 8 q 22.3 5692 5922 gneg 8 q 23.1 5922 6152 gpos 75 8 q 23.2 6152 6267 gneg 8 q 23.3 6267 6611 gpos 100 8 q 24.11 6611 6726 gneg 8 q 24.12 6726 6942 gpos 50 8 q 24.13 6942 7244 gneg 8 q 24.21 7244 7431 gpos 50 8 q 24.22 7431 7661 gneg 8 q 24.23 7661 7804 gpos 75 8 q 24.3 7804 8250 gneg
^ "Homo sapiens isolate CHM13 chromosome 8" . National Library of Medicine /accessdate=2023-01-13. 4 April 2022.^a b "Search results - 8[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene" .NCBI . CCDS Release 20 forHomo sapiens . 2016-09-08. Retrieved2017-05-28 .^ Tom Strachan; Andrew Read (2 April 2010).Human Molecular Genetics ISBN 978-1-136-84407-2 ^a b c Genome Decoration Page, NCBI.Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3) . Last update 2014-06-03. Retrieved 2017-04-26. ^a b Tabarés-Seisdedos R, Rubenstein JL; Rubenstein (2009)."Chromosome 8p as a potential hub for developmental neuropsychiatric disorders: implications for schizophrenia, autism and cancer" .Mol Psychiatry .14 (6):563– 89.doi :10.1038/mp.2009.2 PMID 19204725 .S2CID 11118479 . ^ Pertea M, Salzberg SL (2010)."Between a chicken and a grape: estimating the number of human genes" .Genome Biol .11 (5): 206.doi :10.1186/gb-2010-11-5-206 PMC 2898077 PMID 20441615 . ^ "Statistics & Downloads for chromosome 8" .HUGO Gene Nomenclature Committee . 2017-05-12. Archived fromthe original on 2017-10-26. Retrieved2017-05-19 .^ "Chromosome 8: Chromosome summary - Homo sapiens" .Ensembl Release 88 . 2017-03-29. Archived fromthe original on 2019-12-03. Retrieved2017-05-19 .^ "Human chromosome 8: entries, gene names and cross-references to MIM" .UniProt . 2018-02-28. Retrieved2018-03-16 .^ "Search results - 8[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene" .NCBI . 2017-05-19. Retrieved2017-05-20 .^ "Search results - 8[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. Retrieved2017-05-20 .^ "Search results - 8[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene" .NCBI . 2017-05-19. Retrieved2017-05-20 .^ "Chromosome 8, Monosomy 8p" .rarediseases.org . National Organization for Rare Disorders, Inc. Retrieved2 March 2025 .^ Blouin JL, Dombroski BA, Nath SK, et al. (September 1998). "Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21".Nat. Genet. 20 (1):70– 3.doi :10.1038/1734 .PMID 9731535 .S2CID 52804924 . ^ Gurling HM, Kalsi G, Brynjolfson J, et al. (March 2001)."Genomewide genetic linkage analysis confirms the presence of susceptibility loci for schizophrenia, on chromosomes 1q32.2, 5q33.2, and 8p21-22 and provides support for linkage to schizophrenia, on chromosomes 11q23.3-24 and 20q12.1-11.23" .Am. J. Hum. Genet. 68 (3):661– 73.doi :10.1086/318788 .PMC 1274479 PMID 11179014 . ^ Suarez BK, Duan J, Sanders AR, et al. (February 2006)."Genomewide linkage scan of 409 European-ancestry and African American families with schizophrenia: suggestive evidence of linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the combined sample" .Am. J. Hum. Genet. 78 (2):315– 33.doi :10.1086/500272 .PMC 1380238 PMID 16400611 . ^ Santucci, Kourtney; Malik, Kristina E.; Angione, Katie; Bennink, Dana; Gerk, Andrea; Mancini, Drew; Stringfellow, Megan; Dinkel, Tristen; Demarest, Scott; Miele, Andrea S.; Saenz, Margarita (February 2025)."Chromosome 8p Syndromes Clinical Presentation and Management Guidelines" .Clinical Genetics .107 (2):169– 178.doi :10.1111/cge.14626 .ISSN 1399-0004 .PMID 39390634 . ^ "Home" .Project8p . Retrieved2025-10-20 .^ "Project 8p Foundation - National Organization for Rare Disorders" . 2023-10-31. Retrieved2025-10-20 .^ Genome Decoration Page, NCBI.Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3) . Last update 2014-03-04. Retrieved 2017-04-26. ^ Genome Decoration Page, NCBI.Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3) . Last update 2015-08-11. Retrieved 2017-04-26. ^ International Standing Committee on Human Cytogenetic Nomenclature (2013).ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013) ISBN 978-3-318-02253-7 ^ Sethakulvichai, W.; Manitpornsut, S.; Wiboonrat, M.; Lilakiatsakun, W.; Assawamakin, A.; Tongsima, S. (2012)."Estimation of band level resolutions of human chromosome images" .2012 Ninth International Conference on Computer Science and Software Engineering (JCSSE) . pp. 276– 282.doi :10.1109/JCSSE.2012.6261965 .ISBN 978-1-4673-1921-8 S2CID 16666470 . ^ "p ": Short arm; "q ": Long arm. ^ For cytogenetic banding nomenclature, see articlelocus . ^a b 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 . ^ gpos : Region which is positively stained byG banding , generallyAT-rich and gene poor;gneg : Region which is negatively stained by G banding, generallyCG-rich and gene rich;acen Centromere .var : Variable region;stalk : Stalk.National Institutes of Health."Chromosome 8" .Genetics Home Reference . Archived fromthe original on October 14, 2004. Retrieved2017-05-06 . "Chromosome 8" .Human Genome Project Information Archive 1990–2003 . Retrieved2017-05-06 .
Basic Types Processes Structures
See also
