Human chromosome
Chromosome 16 is one of the 23 pairs of chromosomes in humans . People normally have two copies of this chromosome. Chromosome 16 spans about 90 million base pairs (the building material of DNA) and represents just under 3% of the total DNA in cells .
Genes
Number of genes
The following are some of the gene count estimates of human chromosome 16. 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]
Gene list
The following is a partial list of genes on human chromosome 16. For complete list, see the link in the infobox on the right.
AARS1 : encoding enzyme Alanyl—tRNA synthetase 1ACSF3 : encoding enzyme Acyl-CoA synthetase family member 3ACSM2B : encoding enzyme Acyl-coenzyme A synthetase ACSM2B, mitochondrialACSM3 : encoding enzyme Acyl-coenzyme A synthetase ACSM3, mitochondrial 2ADHD1 : Attention deficit-hyperactivity disorder, susceptibility to, 1ARL6IP1 : encoding protein ADP-ribosylation factor-like protein 6-interacting protein 1ARMC5 BMIQ5 : Body mass index quantitative trait locus 5C16orf58 : encoding protein Chromosome 16 open reading frame 58C16orf71 : encoding protein Uncharacterized protein Chromosome 16 Open Reading Frame 71C16orf82 :C16orf84 :C16orf95 :C16orf96 : encoding protein C16orf96, or chromosome 16 open reading frame 96,CARHSP1 : Calcium-regulated heat stable protein 1CASP16P : encoding protein Caspase 16, pseudogeneCCDC113 : encoding protein Coiled-coil domain-containing protein 113Ccdc78 : encoding protein Coiled-coil domain-containing 78 (CCDC78)CDIPT : CDP-diacylglycerol-inositol 3-phosphatidyltransferaseCFDP1 : Craniofacial development protein 1CHDS1 : Coronary heart disease, susceptibility to, 1CIAPIN1 : Anamorsin (originally, Cytokine induced apoptosis inhibitor 1)CKLF : Chemokine-like factorCLUAP1 :CMTM2 : encoding protein CKLF-like MARVEL transmembrane domain-containing protein 2CCDC135 : encoding protein Coiled-coil domain-containing protein 135COTL1 : encoding protein Coactosin-like proteinCPNE7 : encoding protein Copine 7CTRL : Chymotrypsin-like proteaseDCTPP1 : encoding enzyme dCTP pyrophosphatase 1DEL16P12.1P11.2 : Chromosome 16p12.2-p11.2 deletion syndromeDEL16p13.3, RSTSS : Chromosome 16p13.3 deletion syndrome (Rubinstein-Taybi deletion syndrome)DHX38 : DEAH-box helicase 38DUP16p13.3, C16DUPq13.3 : Chromosome 16p13.3 duplication syndromeEMP2 : Epithelial membrane protein 2ENKD1 : Enkurin domain-containing protein 1ERAF : Alpha-hemoglobin-stabilizing proteinFAHD1 : Fumarylacetoacetate hydrolase domain-containing protein 1FAM57B : Family with sequence similarity 57 member BFBRS : Probably fibrosin-1 long transcript proteinFOXC2-AS1 : encoding protein FOXC2 antisense RNA 1GLG1 : Golgi apparatus protein 1HBAP1 : Hemoglobin, alpha pseudogene 1HBHR, ATR1 : Alpha-thalassemia/mental retardation syndrome, type 1HIRIP3 : encoding protein HIRA-interacting protein 3IBD8 : Inflammatory bowel disease 8IHPS2 : Pyloric stenosis, infantile hypertrophic, 2ITFG3 : encoding protein Protein ITFG3JPT2 : encoding protein Jupiter microtubule associated homolog 2KDM8 : encoding protein Lysine demethylase 8KIAA0895L : uncharacterized protein KIAA0895-likeLINC00273 encoding protein Long intergenic non-protein coding RNA 273LOC124220 : encoding protein Zymogen granule protein 16 homolog BLOC81691 :LUC7L : encoding protein Putative RNA-binding protein Luc7-like 1LYPLA3 : encoding enzyme Group XV phospholipase A2MC1R : melanocortin 1 receptorMCOPCT1 : Microphthalmia with cataract 1METRN : encoding protein Meteorin, glial cell differentiation regulatorMETTL26/JFP2 : encoding protein Chromosome 16 open reading frame 13MKL2 : encoding protein MKL/myocardin-like protein 2MPHOSPH6 : encoding enzyme M-phase phosphoprotein 6MT1G : encoding protein Metallothionein-1GMT1X : encoding protein Metallothionein 1XNIP30 : encoding protein NIP30 proteinNOB1 : encoding protein RNA-binding protein NOB1NOMO1 : encoding protein Nodal modulator 1NPW : encoding protein Neuropeptide WNUBP2 : encoding protein Nucleotide-binding protein 2NUPR1 : encoding protein Nuclear protein 1OGFOD1 :PDF : encoding enzyme Peptide deformylase, mitochondrialPDPR : encoding protein Pyruvate dehydrogenase phosphatase regulatory subunitPKDTS : Polycystic kidney disease, infantile severe, with tuberous sclerosisPMFBP1 : encoding protein Polyamine-modulated factor 1-binding protein 1POLR3K : encoding enzyme DNA-directed RNA polymerase III subunit RPC10PRMT7 : encoding protein Protein arginine methyltransferase 7PRR35 : encoding protein Proline rich 35RPS15A : encoding protein 40S ribosomal protein S15aRSL1D1 : encoding protein Ribosomal L1 domain-containing protein 1SHCBP1 : encoding protein SHC SH2 domain-binding protein 1SLZ1 : encoding protein SLX1 structure-specific endonuclease subunit homolog B (S. cerevisiae)SNAI3-AS1 : encoding protein SNAI3 antisense RNA 1SNORD71 : encoding protein Small nucleolar RNA, C/D box 71SPSB3 : encoding protein SplA/ryanodine receptor domain and SOCS box containing 3SRCAP : encoding enzyme Helicase SRCAPTANGO6 : encoding protein Transport and Golgi organization protein 6 homologTAO2 : encoding Serine/threonine-protein kinase TAO2TBC1D24 : encoding protein TBC1 domain family, member 24TEDC2 : encoding protein Tubulin epsilon and delta complex 2TELO2 : encoding protein Telomere length regulation protein TEL2 homologTMEM112 : encoding enzyme Lipase maturation factor 1TMEM8A : encoding protein Transmembrane protein 8ATNRC6A : encoding protein Trinucleotide repeat-containing gene 6A proteinTuberous sclerosis complex tumor suppressors : encoding [[]] FALSETSR3 : encodingUNKL : encoding protein RING finger protein unkempt-likeVAT1L : encoding protein Vesicle amine transport protein 1 homolog (T. californica)-likeVPS35L : encoding protein VPS35 Endosomal Protein Sorting Factor LikeWFDC1 : encoding protein WAP four-disulfide core domain protein 1ZG16 ZNF23 : encoding protein Zinc finger protein 23ZNF200 : encoding protein Zinc finger protein 200ZNF263 : encoding protein Zinc finger protein 263ZNF629 : encoding protein Zinc finger protein 629ZNF843 : encoding protein Zinc finger protein 843
Diseases and disorders
Associated traits
Cytogenetic band
G-banding ideogram of human chromosome 16 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 16 in three different resolutions (400,
[ 13] 550
[ 14] and 850
[ 3] ). Band length in this diagram is based on the ideograms from ISCN (2013).
[ 15] This type of ideogram represents actual relative band length observed under a microscope at the different moments during the
mitotic process .
[ 16]
G-bands of human chromosome 16 in resolution 850 bphs[ 17]
Chr.
Arm[ 18]
Band[ 19]
ISCN[ 20]
ISCN[ 20]
Basepair
Basepair
Stain[ 21]
Density
16
p
13.3
0
352
gneg
16
p
13.2
352
596
gpos
50
16
p
13.13
596
813
gneg
16
p
13.12
813
948
gpos
50
16
p
13.11
948
1070
gneg
16
p
12.3
1070
1246
gpos
50
16
p
12.2
1246
1409
gneg
16
p
12.1
1409
1558
gpos
50
16
p
11.2
1558
1856
gneg
16
p
11.1
1856
2045
acen
16
q
11.1
2045
2194
acen
16
q
11.2
2194
2709
gvar
16
q
12.1
2709
2953
gneg
16
q
12.2
2953
3142
gpos
50
16
q
13
3142
3346
gneg
16
q
21
3346
3657
gpos
100
16
q
22.1
3657
4023
gneg
16
q
22.2
4023
4118
gpos
50
16
q
22.3
4118
4294
gneg
16
q
23.1
4294
4551
gpos
75
16
q
23.2
4551
4659
gneg
16
q
23.3
4659
4768
gpos
50
16
q
24.1
4768
4930
gneg
16
q
24.2
4930
5025
gpos
25
16
q
24.3
5025
5120
gneg
References
^ a b "Search results - 16[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene" . NCBI . CCDS Release 20 for Homo sapiens . 2016-09-08. Retrieved 2017-05-28 .^ Tom Strachan; Andrew Read (2 April 2010). Human Molecular Genetics ISBN 978-1-136-84407-2 ^ a b Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3) . Last update 2014-06-03. Retrieved 2017-04-26.
^ 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 16" . HUGO Gene Nomenclature Committee . 2017-05-12. Archived from the original on 2017-08-18. Retrieved 2017-05-19 .^ "Chromosome 16: Chromosome summary - Homo sapiens" . Ensembl Release 88 . 2017-03-29. Retrieved 2017-05-19 .^ "Human chromosome 16: entries, gene names and cross-references to MIM" . UniProt . 2018-02-28. Retrieved 2018-03-16 .^ "Search results - 16[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene" . NCBI . 2017-05-19. Retrieved 2017-05-20 .^ "Search results - 16[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. Retrieved 2017-05-20 .^ "Search results - 16[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene" . NCBI . 2017-05-19. Retrieved 2017-05-20 .^ Maillard, A M (25 November 2014). "The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity" . Molecular Psychiatry . 20 (1): 140– 147. doi :10.1038/mp.2014.145 . PMC 4320286 PMID 25421402 . ^ Richter, M (21 February 2018). "Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling" . Molecular Psychiatry . 24 (9): 1329– 1350. doi :10.1038/s41380-018-0025-5 . PMC 6756231 PMID 29467497 . ^ 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) 276– 282. doi :10.1109/JCSSE.2012.6261965 . ISBN 978-1-4673-1921-8 S2CID 16666470 . ^ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3) . Last update 2014-06-03. Retrieved 2017-04-26.
^ "p ": Short arm; "q ": Long arm.
^ For cytogenetic banding nomenclature, see article locus .
^ 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 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.
Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 16". Genet Test . 3 (2): 243– 54. doi :10.1089/gte.1999.3.243 . PMID 10464676 . Martin J, et al. (2004). "The sequence and analysis of duplication-rich human chromosome 16" (PDF) . Nature . 432 (7020): 988– 94. Bibcode :2004Natur.432..988M . doi :10.1038/nature03187 PMID 15616553 . S2CID 4362044 . Miller, David T; Nasir, Ramzi; Sobeih, Magdi M; Shen, Yiping; Wu, Bai-Lin; Hanson, Ellen (2011-10-27). "16p11.2 Recurrent Microdeletion" . 16p11.2 Microdeletion . University of Washington, Seattle. PMID 20301775 . NBK11167. Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A (1993). Pagon RA, Bird TD, Dolan CR, et al. (eds.). GeneReviews [Internet] PMID 20301295 . http://omim.org/search?index=geneMap&search=16p13.3
External links
National Institutes of Health. "Chromosome 16" . Genetics Home Reference . Archived from the original on August 3, 2004. Retrieved 2017-05-06 . "Chromosome 16" . Human Genome Project Information Archive 1990–2003 . Retrieved 2017-05-06 .
Basic Types Processes Structures
See also
Information related to Chromosome 16
