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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 96 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.
ACSF3 : encoding
enzyme Acyl-CoA synthetase family member 3
ACSM2B : encoding
enzyme Acyl-coenzyme A synthetase ACSM2B, mitochondrial
ACSM3 : encoding
enzyme Acyl-coenzyme A synthetase ACSM3, mitochondrial 2
ADHD1 : Attention deficit-hyperactivity disorder, susceptibility to, 1
ARL6IP1 : encoding
protein ADP-ribosylation factor-like protein 6-interacting protein 1
ARMC5
BMIQ5 : Body mass index quantitative trait locus 5
C16orf58 : encoding
protein Chromosome 16
open reading frame 58
C16orf71 : encoding
protein Uncharacterized protein Chromosome 16 Open Reading Frame 71
C16orf82 :
C16orf84 :
C16orf95 :
C16orf96 : encoding
protein C16orf96, or chromosome 16 open reading frame 96,
CARHSP1 : Calcium-regulated heat stable protein 1
CASP16P : encoding
protein Caspase 16, pseudogene
CCDC113 : encoding
protein Coiled-coil domain-containing protein 113
Ccdc78 : encoding
protein Coiled-coil domain-containing 78 (CCDC78)
CDIPT : CDP-diacylglycerol-inositol 3-phosphatidyltransferase
CFDP1 : Craniofacial development protein 1
CHDS1 : Coronary heart disease, susceptibility to, 1
CIAPIN1 : Anamorsin (originally, Cytokine induced apoptosis inhibitor 1)
CKLF : Chemokine-like factor
CLUAP1 :
CMTM2 : encoding
protein CKLF-like MARVEL transmembrane domain-containing protein 2
CCDC135 : encoding
protein Coiled-coil domain-containing protein 135
COTL1 : encoding
protein Coactosin-like protein
CPNE7 : encoding
protein Copine 7
CTRL : Chymotrypsin-like protease
DCTPP1 : encoding
enzyme dCTP pyrophosphatase 1
DEL16P12.1P11.2 : Chromosome 16p12.2-p11.2 deletion syndrome
DEL16p13.3, RSTSS : Chromosome 16p13.3 deletion syndrome (Rubinstein-Taybi deletion syndrome)
DHX38 : DEAH-box helicase 38
DUP16p13.3, C16DUPq13.3 : Chromosome 16p13.3 duplication syndrome
EMP2 : Epithelial membrane protein 2
ENKD1 : Enkurin domain-containing protein 1
ERAF : Alpha-hemoglobin-stabilizing protein
FAHD1 : Fumarylacetoacetate hydrolase domain-containing protein 1
FAM57B : Family with sequence similarity 57 member B
FBRS : Probably fibrosin-1 long transcript protein
FOXC2-AS1 : encoding
protein FOXC2 antisense RNA 1
GLG1 : Golgi apparatus protein 1
HBAP1 : Hemoglobin, alpha pseudogene 1
HBHR, ATR1 : Alpha-thalassemia/mental retardation syndrome, type 1
HIRIP3 : encoding
protein HIRA-interacting protein 3
HN1L : encoding
protein Hematological and neurological expressed 1-like protein
IBD8 : Inflammatory bowel disease 8
IHPS2 : Pyloric stenosis, infantile hypertrophic, 2
ITFG3 : encoding
protein Protein ITFG3
KDM8 : encoding
protein Lysine demethylase 8
KIAA0895L : uncharacterized protein KIAA0895-like
LINC00273 encoding
protein Long intergenic non-protein coding RNA 273
LOC124220 : encoding
protein Zymogen granule protein 16 homolog B
LOC81691 :
LUC7L : encoding
protein Putative RNA-binding protein Luc7-like 1
LYPLA3 : encoding
enzyme Group XV phospholipase A2
MC1R : melanocortin 1 receptor
MCOPCT1 : Microphthalmia with cataract 1
METRN : encoding
protein Meteorin, glial cell differentiation regulator
METTL26/JFP2 : encoding
protein Chromosome 16 open reading frame 13
MKL2 : encoding
protein MKL/myocardin-like protein 2
MPHOSPH6 : encoding
enzyme M-phase phosphoprotein 6
MT1G : encoding
protein Metallothionein-1G
MT1X : encoding
protein Metallothionein 1X
NIP30 : encoding
protein NIP30 protein
NOB1 : encoding
protein RNA-binding protein NOB1
NOMO1 : encoding
protein Nodal modulator 1
NPW : encoding
protein Neuropeptide W
NUBP2 : encoding
protein Nucleotide-binding protein 2
NUPR1 : encoding
protein Nuclear protein 1
OGFOD1 :
PDF : encoding
enzyme Peptide deformylase, mitochondrial
PDPR : encoding
protein Pyruvate dehydrogenase phosphatase regulatory subunit
PKDTS : Polycystic kidney disease, infantile severe, with tuberous sclerosis
PMFBP1 : encoding
protein Polyamine-modulated factor 1-binding protein 1
POLR3K : encoding
enzyme DNA-directed RNA polymerase III subunit RPC10
PRMT7 : encoding
protein Protein arginine methyltransferase 7
PRR35 : encoding
protein Proline rich 35
RPS15A : encoding
protein 40S ribosomal protein S15a
RSL1D1 : encoding
protein Ribosomal L1 domain-containing protein 1
SHCBP1 : encoding
protein SHC SH2 domain-binding protein 1
SLZ1 : encoding
protein SLX1 structure-specific endonuclease subunit homolog B (S. cerevisiae)
SNAI3-AS1 : encoding
protein SNAI3 antisense RNA 1
SNORD71 : encoding
protein Small nucleolar RNA, C/D box 71
SPSB3 : encoding
protein SplA/ryanodine receptor domain and SOCS box containing 3
SRCAP : encoding
enzyme Helicase SRCAP
TANGO6 : encoding
protein Transport and Golgi organization protein 6 homolog
TAO2 : encoding Serine/threonine-protein kinase TAO2
TBC1D24 : encoding
protein TBC1 domain family, member 24
TEDC2 : encoding
protein Tubulin epsilon and delta complex 2
TELO2 : encoding
protein Telomere length regulation protein TEL2 homolog
TMEM112 : encoding
enzyme Lipase maturation factor 1
TMEM8A : encoding
protein Transmembrane protein 8A
TNRC6A : encoding
protein Trinucleotide repeat-containing gene 6A protein
Tuberous sclerosis complex tumor suppressors : encoding [[]] FALSE
TSR3 : encoding
UNKL : encoding
protein RING finger protein unkempt-like
VAT1L : encoding
protein Vesicle amine transport protein 1 homolog (T. californica)-like
VPS35L : encoding
protein VPS35 Endosomal Protein Sorting Factor Like
WFDC1 : encoding
protein WAP four-disulfide core domain protein 1
ZG16
ZNF23 : encoding
protein Zinc finger protein 23
ZNF200 : encoding
protein Zinc finger protein 200
ZNF263 : encoding
protein Zinc finger protein 263
ZNF629 : encoding
protein Zinc finger protein 629
ZNF843 : 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 start
[20]
ISCN stop
[20]
Basepair start
Basepair stop
Stain
[21]
Density
16
p
13.3
0
352
1
7,800,000
gneg
16
p
13.2
352
596
7,800,001
10,400,000
gpos
50
16
p
13.13
596
813
10,400,001
12,500,000
gneg
16
p
13.12
813
948
12,500,001
14,700,000
gpos
50
16
p
13.11
948
1070
14,700,001
16,700,000
gneg
16
p
12.3
1070
1246
16,700,001
21,200,000
gpos
50
16
p
12.2
1246
1409
21,200,001
24,200,000
gneg
16
p
12.1
1409
1558
24,200,001
28,500,000
gpos
50
16
p
11.2
1558
1856
28,500,001
35,300,000
gneg
16
p
11.1
1856
2045
35,300,001
36,800,000
acen
16
q
11.1
2045
2194
36,800,001
38,400,000
acen
16
q
11.2
2194
2709
38,400,001
47,000,000
gvar
16
q
12.1
2709
2953
47,000,001
52,600,000
gneg
16
q
12.2
2953
3142
52,600,001
56,000,000
gpos
50
16
q
13
3142
3346
56,000,001
57,300,000
gneg
16
q
21
3346
3657
57,300,001
66,600,000
gpos
100
16
q
22.1
3657
4023
66,600,001
70,800,000
gneg
16
q
22.2
4023
4118
70,800,001
72,800,000
gpos
50
16
q
22.3
4118
4294
72,800,001
74,100,000
gneg
16
q
23.1
4294
4551
74,100,001
79,200,000
gpos
75
16
q
23.2
4551
4659
79,200,001
81,600,000
gneg
16
q
23.3
4659
4768
81,600,001
84,100,000
gpos
50
16
q
24.1
4768
4930
84,100,001
87,000,000
gneg
16
q
24.2
4930
5025
87,000,001
88,700,000
gpos
25
16
q
24.3
5025
5120
88,700,001
90,338,345
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 . Garland Science. p. 45.
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) . Karger Medical and Scientific Publishers.
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 .
^ 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. In 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] . Seattle WA: University of Washington, Seattle.
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 concepts Types Processes and evolution Structures
See also