Chromosome 8

Genes

Number of genes

The following are some of the gene count estimates of human chromosome 8. 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.

Gene list

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: encoding protein Alcohol dehydrogenase, iron containing 1
• 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
• BRF2: transcription factor IIIB 50 kDa subunit
• C8orf32/WDYHV1: encoding enzyme Protein N-terminal glutamine amidohydrolase
• C8orf33: chromosome 8, open reading frame 33
• C8orf34: chromosome 8, open reading frame 34
• C8orf4: encoding protein Uncharacterized protein C8orf4
• C8orf48: encoding protein C8orf48
• C8orf58: chromosome 8 open reading frame 58
• C8orfk29: encoding protein TMEM249
• CCAT1: colon cancer associated transcript 1
• CCDC166: encoding protein Coiled-coil domain containing 166
• CCDC25: coiled-coil domain containing protein 25
• CHD7: chromodomain helicase DNA binding protein 7
• CHMP4C: Charged multivesicular body protein 4c
• CHRAC1 encoding protein Chromatin accessibility complex 1
• CHRNA2: cholinergic receptor, nicotinic, alpha 2 (neuronal)
• CLN8: ceroid-lipofuscinosis, neuronal 8
• CNGB3: cyclic nucleotide gated channel beta 3
• COH1: vacuolar protein sorting 13B
• CPNE3: encoding protein Copine 3
• CRISPLD1: encoding protein Cysteine rich secretory protein LCCL domain containing 1
• CSGALNACT1: Chondroitin sulfate N-acetylgalactosaminyltransferase 1
• CTHRC1: encoding protein Collagen triple helix repeat containing 1
• CYP11B1: cytochrome P450, family 11, subfamily B, polypeptide 1
• CYP11B2: cytochrome P450, family 11, subfamily B, polypeptide 2
• DCSTAMP: dendrocyte expressed seven transmembrane protein
• DPYS: dihydropyrimidinase
• EBAG9: Estrogen receptor binding site associated antigen 9
• ENTPD4: encoding protein Ectonucleoside triphosphate diphosphohydrolase 4
• EPPK1: epiplakin
• ERICH5: encoding protein Glutamate rich 5
• ESCO2: establishment of sister chromatid cohesion N-acetyltransferase 2
• EXT1: exostosin glycosyltransferase 1
• EXTL3: exostosin-like glycosyltransferase 3
• EYA1: EYA transcriptional coactivator and phosphatase 1
• FABP9: fatty acid binding protein 9, testis
• FAM167A: family with sequence similarity 167, member A
• FAM203B: family with sequence similarity 203, member B
• FAM83A: family with sequence similarity 83, member A
• FAM83H: family with sequence similarity 83, member H
• FAM84B: encoding protein Family with sequence similarity 84 member b
• FBXO16: encoding protein F-box protein 16
• FDFT1: encoding protein Farnesyl-diphosphate farnesyltransferase 1
• FGFR1: fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome)
• FGL1: Fibrinogen-like protein 1
• GDAP1: ganglioside-induced differentiation-associated protein 1
• GDF6: growth differentiation factor 6
• GLI4: encoding protein Gli family zinc finger 4
• GPIHBP1: GPI-anchored high density lipoprotein binding protein 1
• GRINA: encoding protein Glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)
• GSDMC: encoding protein Gasdermin C
• GULOP pseudogene: responsible for human inability to produce Vitamin C
• HGH1: encoding protein Hgh1 homolog
• HGSNAT: heparan-alpha-glucosaminide N-acetyltransferase
• HMBOX1: encoding protein Homeobox containing 1, also known as homeobox telomere-binding protein 1 (HOT1)
• HRSP12: encoding enzyme Ribonuclease UK114
• INTS8: integrator complex subunit 8
• INTS9: integrator complex subunit 9
• KBTBD11: encoding protein Kelch repeat and btb domain containing 11
• KCNQ3: potassium channel, voltage gated KQT-like subfamily Q, member 3.
• KIAA0196: KIAA0196
• KIF13B: encoding protein Kinesin family member 13B
• LACTB2: lactamase, beta 2
• LAPTM4B: lysosomal-associated transmembrane protein 4B
• LOC642658: encoding protein Basic helix-loop-helix transcription factor scleraxis
• LPL: lipoprotein lipase
• LSM1: U6 snRNA-associated Sm-like protein LSm1
• MAK16: MAK16 homolog
• MCPH1: microcephaly, primary autosomal recessive 1
• MIR486-1: encoding MicroRNA 486-1
• MIR548V: encoding MicroRNA 548v
• MIR5680: encoding MicroRNA 5680
• MIR6850: encoding protein MicroRNA 6850
• MRPL13: encoding protein Mitochondrial ribosomal protein L13
• MYBL1: encoding protein MYB proto-oncogene like 1
• NBN: nibrin
• NDRG1: N-myc downstream regulated gene 1
• NEF3: neurofilament 3 (150kDa medium)
• NEFL: neurofilament, light polypeptide 68kDa
• ODF1: outer dense fiber protein 1
• OTUD6B: OTU domain containing 6B
• PCMTD1: encoding protein Protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1
• PDP1: pyruvate dehydrogenase phosphatase catalytic subunit 1
• PKIA: cAMP-dependent protein kinase inhibitor alpha
• PLEC: plectin
• PNMA2: paraneoplastic antigen Ma2
• PREX2: phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2
• PROSC: proline synthetase co-transcribe bacterial homolog protein
• PTTG3P: encoding protein Pituitary tumor-transforming 3, pseudogene
• PURG: encoding protein Purine-rich element binding protein G
• PVT1: Pvt1 oncogene
• RECQL4: RecQ protein-like 4
• RNF5P1: ring finger protein 5 pseudogene 1
• RRS1: ribosome biogenesis regulator homolog
• 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)
• SNHG6: encoding protein Small nucleolar RNA host gene 6
• SPAG11B: sperm-associated antigen 11B
• STAU2: staufen double-stranded RNA binding protein 2
• SYBU: Syntabulin
• TG: thyroglobulin
• THAP1: THAP domain containing, apoptosis associated protein 1
• TMEM67: encoding protein Meckelin
• TNFRSF11B: tumor necrosis factor receptor superfamily, member 11b
• TONSL: encoding protein Tonsoku-like, DNA repair protein
• TPA: tissue plasminogen activator
• TRMT12: tRNA methyltransferase 12 homolog
• TRPS1: trichorhinophalangeal syndrome I
• TSPYL5 (gene): encoding protein TSPY like 5
• TTI2: encoding protein TELO2 interacting protein 2
• VCPIP1: valosin containing protein/p47 complex interacting protein 1
• VXN: encoding vexin
• VMAT1: vesicular monoamine transporter protein
• VPS13B: vacuolar protein sorting 13 homolog B (yeast)
• VPS37A: vacuolar protein sorting 37 homolog A
• WRN: Werner syndrome
• XKR9: encoding protein Xk related 9
• YTHDF3: YTH N6-methyladenosine RNA binding protein 3
• ZFP41: encoding protein ZFP41 zinc finger protein
• ZHX2: zinc fingers and homeoboxes protein 2
• ZMAT4: zinc finger matrin-type 4
• ZNF16: zinc finger protein 16
• ZNF395: encoding protein Zinc finger protein 395
• ZNF517: encoding protein Zinc finger protein 517
• ZNF696: encoding protein Zinc finger protein 696
• ZNF703: zinc finger protein 703
• ZNF706: zinc finger protein 706
• ZNF707: encoding protein Zinc finger protein 707

Diseases and disorders

The following diseases and disorders are some of those related to genes on chromosome 8:

• 8p23.1 duplication syndrome
• Bipolar disorder
• Burkitt lymphoma
• Charcot–Marie–Tooth disease
• COACH syndrome
• Cleft lip and cleft palate
• Cohen syndrome
• Congenital hypothyroidism
• Fahr's syndrome
• Hereditary multiple exostoses
• Lipoprotein lipase deficiency, familial
• Monosomy 8p
• Myelodysplastic syndrome
• Pfeiffer syndrome
• Primary microcephaly
• Rothmund–Thomson syndrome
• Schizophrenia, associated with 8p21-22 locus
• Waardenburg syndrome
• Werner syndrome
• Pingelapese blindness
• Langer–Giedion syndrome
• Roberts syndrome
• Hepatocellular carcinoma
• Sanfilippo syndrome

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. Project 8p Foundation, a global nonprofit patient advocacy organization, supports individuals affected by chromosome 8p disorders, through community support and connection, a longitudinal natural history study, biorepository, open-access data platform, and the development of precision medicine tools aimed at improving clinical care and accelerating discovery. There is also a multidisciplinary clinic for 8p rearrangements led by Project 8p available to affected families.

Cytogenetic band

References

References

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2. (2 April 2010). "Human Molecular Genetics". Garland Science.
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4. Tabarés-Seisdedos R, Rubenstein JL. (2009). "Chromosome 8p as a potential hub for developmental neuropsychiatric disorders: implications for schizophrenia, autism and cancer". Mol Psychiatry.
5. Pertea M, Salzberg SL. (2010). "Between a chicken and a grape: estimating the number of human genes.". Genome Biol.
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7. (2017-05-12). "Statistics & Downloads for chromosome 8".
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12. (2017-05-19). "Search results - 8[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene".
13. "Chromosome 8, Monosomy 8p". National Organization for Rare Disorders, Inc.
14. (September 1998). "Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21". [[Nat. Genet.]].
15. (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.]].
16. (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.]].
17. Santucci, Kourtney. (February 2025). "Chromosome 8p Syndromes Clinical Presentation and Management Guidelines". Clinical Genetics.
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19. (2023-10-31). "Project 8p Foundation - National Organization for Rare Disorders".
20. Genome Decoration Page, NCBI. [https://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_400_V1 Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3)]. Last update 2014-03-04. Retrieved 2017-04-26.
21. Genome Decoration Page, NCBI. [https://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_550_V1 Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3)]. Last update 2015-08-11. Retrieved 2017-04-26.
22. International Standing Committee on Human Cytogenetic Nomenclature. (2013). "ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013)". Karger Medical and Scientific Publishers.
23. (2012). "2012 Ninth International Conference on Computer Science and Software Engineering (JCSSE)".
24. "'''p'''": Short arm; "'''q'''": Long arm.
25. For cytogenetic banding nomenclature, see article [[Locus (genetics). locus]].
26. 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]].
27. '''gpos''': Region which is positively stained by [[G banding]], generally [[GC-content. AT-rich]] and gene poor; '''gneg''': Region which is negatively stained by G banding, generally [[GC-content. CG-rich]] and gene rich; '''acen''' [[Centromere]]. '''var''': Variable region; '''stalk''': Stalk.