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Human chromosome
Chromosome 12 is one of the 23 pairs of
chromosomes in
humans . People normally have two copies of this chromosome. Chromosome 12 spans about 133 million
base pairs (the building material of
DNA ) and represents between 4 and 4.5 percent of the total DNA in
cells .
Chromosome 12 contains the
Homeobox C gene cluster.
Genes
Number of genes
The following are some of the gene count estimates of human chromosome 12. 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 12. For complete list, see the link in the infobox on the right.
ACAD10 : encoding
protein Acyl-CoA dehydrogenase family, member 10
ACSS3 : encoding
protein Acyl-CoA synthetase short-chain family member 3
ACVRL1 : activin A receptor type II-like 1f
ANKRD33 : encoding
protein Ankyrin repeat domain 33
APOF : encoding
protein Apolipoprotein F
APOLD1 : apolipoprotein L domain containing 1
ARL6IP4 : encoding
protein ADP-ribosylation-like factor 6 interacting protein 4
ARPC3 : encoding
protein Actin-related protein 2/3 complex subunit 3
Asun : encoding
protein Protein asunder homolog (Asun)
ATP2B1-AS1 : encoding protein Atp2b1 antisense rna 1
ATG101 : Autophagy-related protein 101
BCAT1 : encoding
protein Branched chain amino acid transaminase 1
C12orf24 : encoding protein FAM216A
C12orf42 : encoding
protein uncharacterised chromosome 12 open reading frame 42
C12orf43 : encoding protein. Uncharacterized.
C12orf60 : encoding
protein Uncharacterized protein C12orf60
CALCOCO1 : Calcium-binding and coiled-coil domain-containing protein 1
CBX5 : chromobox homolog 5
CCDC53 : Coiled-coil domain-containing protein 53
CKAP4 : Cytoskeleton associated protein 4
CNOT2 : encoding
protein CCR4-NOT transcription complex subunit 2
CNPY2 : encoding
protein Canopy FGF signaling regulator 2
CCDC42B : encoding
protein Coiled Coil Domain Containing protein 42B
COL2A1 : collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)
CRACR2A : encoding
protein Calcium release activated channel regulator 2A
CSRP2 : Cysteine and glycine-rich protein 2
DDX23 : DEAD-box helicase 23
DDX47 : DEAD-box helicase 47
DHH : Desert hedgehog protein
DPPA3 : Developmental pluripotency-associated protein 3
DPY19L2 : encoding
protein Dpy-19-like 2 (C. elegans)
E2F7 : E2F transcription factor 7
EMP1 : Epithelial membrane protein 1
ERGIC2 : encoding
protein a protein of 377 amino acid residues
FAM60A: encoding
protein
FAM60A
FAM186B : encoding
protein Protein FAM186B
GABARAPL1 : encoding protein Gaba type a receptor associated protein like 1
GPD1 : encoding
protein Glycerol-3-phosphate dehydrogenase 1
GOLT1B : Golgi transport 1B
GPN3 : encoding
enzyme GPN-loop GTPase 3
HNF1A-AS1 : encoding
protein HNF1A antisense RNA 1
HPD : 4-hydroxyphenylpyruvate dioxygenase
IFFO1 : encoding
protein Intermediate filament family orphan 1
KANSL2 : encoding
protein KAT8 regulatory NSL complex subunit 2 (KANSL2)
KCNA1 : potassium voltage-gated channel subfamily A member 1 at 12p13.32
KDM2B : encoding
protein Lysine (K)-specific demethylase 2B
KERA : keratocan
KRAS : V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
LARP4 : encoding
protein La-related protein 4
LEPREL2 : encoding
enzyme Prolyl 3-hydroxylase 3
LMBR1L : encoding
protein Protein LMBR1L
LRRC23 : encoding
protein Leucine-rich repeat-containing protein 23
LRRIQ1 : encoding
protein Leucine-rich repeats and IQ motif containing 1
LRRK2 : leucine-rich repeat kinase 2
MBOAT5 : encoding
enzyme Lysophospholipid acyltransferase 5
METTL1 : encoding
enzyme tRNA (guanine-N(7)-)-methyltransferase
MFAP5 : encoding
protein Microfibrillar-associated protein 5
MIR196A2 : encoding
microRNA MicroRNA 196a-2
MMAB : methylmalonic aciduria (cobalamin deficiency) cblB type
MON2 : encoding
protein Protein MON2 homolog
MUCL1 : encoding
protein Mucin-like protein 1
MYO1A : myosin IA
NANOG : NK-2 type homeodomain gene
NAP1L1 : encoding
protein Nucleosome assembly protein 1-like 1
NRIP2 : encoding
protein Nuclear receptor-interacting protein 2
NUDT4 : encoding
enzyme Diphosphoinositol polyphosphate phosphohydrolase 2
PAH : phenylalanine hydroxylase
PIP4K2C : encoding
protein Phosphatidylinositol-5-phosphate 4-kinase, type II, gamma
PIWIL1 : encoding
protein Piwi-like protein 1
PLBD1 : encoding
protein Phospholipase B domain containing 1 1
POP5 : encoding
enzyme Ribonuclease P/MRP protein subunit POP5
PPHLN1 : encoding
protein Periphilin-1
PPP1R12A : protein phosphatase 1, regulatory (inhibitor) subungfdit 12A
PRB1 : encoding
protein Basic salivary proline-rich protein 1
PRB3 : encoding
protein Basic salivary proline-rich protein 3
PRB4 : encoding
protein Basic salivary proline-rich protein 4
PRH1 : encoding
protein Salivary acidic proline-rich phosphoprotein 1/2
PRH2 : encoding
protein Proline-rich protein HaeIII subfamily 2
PRMT8 : encoding
protein Protein arginine methyltransferase 8
PRR4 : encoding
protein Proline-rich protein 4
PTMS : encoding
protein Parathymosin
PTPN11 : protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1)
PUS1 : encoding
enzyme tRNA pseudouridine synthase A
PUS7L : encoding
enzyme Pseudouridylate synthase 7 homolog-like protein
PZP : encoding
protein Pregnancy zone protein
RAB3IP : encoding
protein RAB3A-interacting protein
RASSF8 : encoding
protein Ras association domain-containing protein 8
RASSF9 : encoding
protein Ras association domain-containing protein 9
RERG : encoding
protein RAS-like, estrogen-regulated, growth inhibitor
RNF34 : encoding
enzyme E3 ubiquitin-protein ligase RNF34
SARNP : SAP domain-containing ribonucleoprotein
Serpina3f : encoding
protein Serine (or cysteine) peptidase inhibitor, clade A, member 3F
SHMT2 : encoding protein Serine hydroxymethyltransferase 2
SLC8B1 : solute carrier family 8 member B1
TBC1D15 : encoding
protein TBC1 domain family member 15
TBX3 : encoding
protein T-box
transcription factor 3
TCHP : encoding
protein Trichoplein keratin filament-binding protein
TESPA1 : encoding
protein Thymocyte expressed, positive selection associated 1
THAP2 : encoding
protein THAP domain-containing protein 2
TMTC1 : encoding
protein Transmembrane and tetratricopeptide repeat containing 1
TMEM117 : encoding
protein Transmembrane protein 117
TRAFD1 : encoding
protein TRAF-type zinc finger domain-containing protein 1
TSFM : encoding
protein Elongation factor Ts, mitochondrial
TWF1 : twinfilin-1
UNQ1887 :
USP52 : encoding
enzyme PAB-dependent poly(A)-specific ribonuclease subunit 2
UTP20 : encoding
protein Small subunit processome component 20 homolog
VEZT : encoding
protein Vezatin
YAF2 : encoding
protein YY1-associated factor 2
ZCCHC8 : encoding
protein Zinc finger CCHC domain-containing protein 8
ZFC3H1 : encoding
protein Zinc finger C3H1-type containing
ZNF26 : encoding
protein Zinc finger protein 26
ZNF84 : encoding
protein Zinc finger protein 84
ZNF268 : encoding
protein Zinc finger protein 268
ZNF664 : encoding
protein Zinc finger protein 664
Diseases and disorders
The following diseases are some of those related to genes on chromosome 12:
Cytogenetic band
G-banding ideogram of human chromosome 12 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 12 in three different resolutions (400,
[12] 550
[13] and 850
[3] ). Band length in this diagram is based on the ideograms from ISCN (2013).
[14] This type of ideogram represents actual relative band length observed under a microscope at the different moments during the
mitotic process .
[15]
G-bands of human chromosome 12 in resolution 850 bphs
[3]
Chr.
Arm
[16]
Band
[17]
ISCN start
[18]
ISCN stop
[18]
Basepair start
Basepair stop
Stain
[19]
Density
12
p
13.33
0
216
1
3,200,000
gneg
12
p
13.32
216
345
3,200,001
5,300,000
gpos
25
12
p
13.31
345
633
5,300,001
10,000,000
gneg
12
p
13.2
633
806
10,000,001
12,600,000
gpos
75
12
p
13.1
806
921
12,600,001
14,600,000
gneg
12
p
12.3
921
1195
14,600,001
19,800,000
gpos
100
12
p
12.2
1195
1252
19,800,001
21,100,000
gneg
12
p
12.1
1252
1526
21,100,001
26,300,000
gpos
100
12
p
11.23
1526
1655
26,300,001
27,600,000
gneg
12
p
11.22
1655
1785
27,600,001
30,500,000
gpos
50
12
p
11.21
1785
1900
30,500,001
33,200,000
gneg
12
p
11.1
1900
2015
33,200,001
35,500,000
acen
12
q
11
2015
2116
35,500,001
37,800,000
acen
12
q
12
2116
2562
37,800,001
46,000,000
gpos
100
12
q
13.11
2562
2706
46,000,001
48,700,000
gneg
12
q
13.12
2706
2850
48,700,001
51,100,000
gpos
25
12
q
13.13
2850
3210
51,100,001
54,500,000
gneg
12
q
13.2
3210
3383
54,500,001
56,200,000
gpos
25
12
q
13.3
3383
3498
56,200,001
57,700,000
gneg
12
q
14.1
3498
3700
57,700,001
62,700,000
gpos
75
12
q
14.2
3700
3786
62,700,001
64,700,000
gneg
12
q
14.3
3786
3959
64,700,001
67,300,000
gpos
50
12
q
15
3959
4203
67,300,001
71,100,000
gneg
12
q
21.1
4203
4362
71,100,001
75,300,000
gpos
75
12
q
21.2
4362
4549
75,300,001
79,900,000
gneg
12
q
21.31
4549
4837
79,900,001
86,300,000
gpos
100
12
q
21.32
4837
4894
86,300,001
88,600,000
gneg
12
q
21.33
4894
5125
88,600,001
92,200,000
gpos
100
12
q
22
5125
5355
92,200,001
95,800,000
gneg
12
q
23.1
5355
5571
95,800,001
101,200,000
gpos
75
12
q
23.2
5571
5643
101,200,001
103,500,000
gneg
12
q
23.3
5643
5873
103,500,001
108,600,000
gpos
50
12
q
24.11
5873
6104
108,600,001
111,300,000
gneg
12
q
24.12
6104
6219
111,300,001
111,900,000
gpos
25
12
q
24.13
6219
6334
111,900,001
113,900,000
gneg
12
q
24.21
6334
6478
113,900,001
116,400,000
gpos
50
12
q
24.22
6478
6579
116,400,001
117,700,000
gneg
12
q
24.23
6579
6737
117,700,001
120,300,000
gpos
50
12
q
24.31
6737
7083
120,300,001
125,400,000
gneg
12
q
24.32
7083
7255
125,400,001
128,700,000
gpos
50
12
q
24.33
7255
7500
128,700,001
133,275,309
gneg
References
^
a
b
"Search results - 12[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
c 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 12" . HUGO Gene Nomenclature Committee . 2017-05-12. Retrieved 2017-05-19 .
^
"Chromosome 12: Chromosome summary - Homo sapiens" . Ensembl Release 88 . 2017-03-29. Retrieved 2017-05-19 .
^
"Human chromosome 12: entries, gene names and cross-references to MIM" . UniProt . 2018-02-28. Retrieved 2018-03-16 .
^
"Search results - 12[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene" . NCBI . 2017-05-19. Retrieved 2017-05-20 .
^
"Search results - 12[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 - 12[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene" . NCBI . 2017-05-19. Retrieved 2017-05-20 .
^ Riaz N; Steinberg S; Ahmad J; et al. (April 2005).
"Genomewide significant linkage to stuttering on chromosome 12" . Am. J. Hum. Genet . 76 (4): 647–51.
doi :
10.1086/429226 .
PMC
1199301 .
PMID
15714404 .
^ 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 .
^ "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, Kauff N (2000). "Disease genes and chromosomes: disease maps of the human genome.Chromosome 12". Genet Test . 4 (3): 319–33.
doi :
10.1089/10906570050501588 .
PMID
11142767 .
Montgomery KT, Lee E, Miller A, Lau S, Shim C, Decker J, Chiu D, Emerling S, Sekhon M, Kim R, Lenz J, Han J, Ioshikhes I, Renault B, Marondel I, Yoon SJ, Song K, Murty VV, Scherer S, Yonescu R, Kirsch IR, Ried T, McPherson J, Gibbs R, Kucherlapati R (2001).
"A high-resolution map of human chromosome 12" . Nature . 409 (6822): 945–6.
Bibcode :
2001Natur.409..945M .
doi :
10.1038/35057174 .
PMID
11237017 .
External links
National Institutes of Health.
"Chromosome 12" . Genetics Home Reference . Archived from
the original on 2007-06-12. Retrieved 2017-05-06 .
"Chromosome 12" . Human Genome Project Information Archive 1990–2003 . Retrieved 2017-05-06 .
Basic concepts Types Processes and evolution Structures
See also