Human chromosome
Chromosome 9 is one of the 23 pairs of chromosomes in humans . Humans normally have two copies of this chromosome, as they normally do with all chromosomes. Chromosome 9 spans about 138 million base pairs of nucleic acids (the building blocks of DNA ) and represents between 4.0 and 4.5% of the total DNA in cells .
These are some of the gene count estimates of human chromosome 9. 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]
The following is a partial list of genes on human chromosome 9. For a complete list, see the link in the infobox on the right.
The ABO gene , which determines ABO blood type , is located on the long arm of this chromosome. (Location: 9q34.2)
ABO : ABO histo-blood group glycosyltransferases
ACTL7A : encoding protein Actin-like protein 7A
ADAMTS13 : ADAM metallopeptidase with thrombospondin type 1 motif, 13
AIF1L : allograft inflammatory factor 1-like
ALAD : aminolevulinate, delta-, dehydratase
ALS4 : amyotrophic lateral sclerosis 4
ANGPTL2 : angiopoietin-related protein 2
ASS : argininosuccinate synthetase
BANCR : encoding protein BRAF-activated non-protein coding RNA
BNC2 : zinc finger protein basonuclin-2
C9orf64 : chromosome 9 open reading frame 64
C9orf78 : encoding protein Uncharacterized protein C9orf78
SHOC1 : Shortage In Chiasmata 1
C9orf25 : encoding protein Chromosome 9 open reading frame 25
C9orf43 : encoding protein Chromosome 9 open reading frame 43
C9orf135 : encoding protein Chromosome 9 open reading frame 135
C9orf152 : chromosome 9 open reading frame 152
C9orf156 : encoding protein Chromosome 9 open reading frame 156
CAAP1 : caspase activity and apoptosis inhibitor 1
CARD19 : caspase recruitment domain family member 19
CBWD1 : COBW domain-containing protein 1
CCDC180 : Coiled coil domain-containing protein 180
CCL21 : chemokine (C-C motif) ligand 21, SCYA21
CCL27 : chemokine (C-C motif) ligand 27, SCYA27
CFAP157 : Cilia and flagella associated protein 157
CHMP5 : Charged multivesicular body protein 5
CNTLN : centlein
CDKN2BAS : CDKN2B antisense RNA 1 or antisense non-coding RNA in the INK4 locus (ANRIL)
COL5A1 : collagen, type V, alpha 1
DDX31 : DEAD box polypeptide 31
DENND1A : DENN domain-containing protein 1A
ENG : endoglin (Osler-Rendu-Weber syndrome 1)
ENTPD2 : encoding enzyme ectonucleoside triphosphate diphosphohydrolase 2
EQTN : equatorin
FAM73B : family with sequence similarity 73 member B
FAM120A : Family with sequence similarity 120 member A
FAM122a : encoding protein Family with sequence similarity 122A
FBP1 Fructose-1,6-bisphosphatase 1
FIBCD1 : encoding protein Fibrinogen C domain containing 1
FOCAD : focadhesin
FXN : frataxin
GALT : galactose-1-phosphate uridylyltransferase
GAS1 : growth arrest-specific protein 1
GCNT1 : glucosaminyl (N-acetyl) transferase 1
GLE1L : Nucleoporin GLE1
GPR107 : G protein-coupled receptor 107
GRHPR : glyoxylate redasductase/hydroxypyruvate reductase
GSN : cytoplasmic and plasma gelsolin
HAUS6 : HAUS augmin-like complex subunit 6
HEMGN : encoding protein hemogen
IFN1@ : Interferon, type 1, cluster
IKBKAP : inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
INSL6 : insulin like 6
ISCA1 : iron-sulfur cluster assembly 1 homolog, mitochondrial
KIAA1958 : protein KIAA1958
KYAT1 : Kynurenine aminotransferase 1
LINGO2 : leucine rich repeat and Ig domain containing 2
LOC101928193 : encoding protein LOC101928193
MGC50722 : Protein MGC50722, Uncharacterized Protein LOC399693
MIR181A2HG encoding protein MIR181A2 host gene
MIR7-1 : microRNA 7-1
MSMP : encoding protein Microseminoprotein, prostate associated
MTAP : S-methyl-5'-thioadenosine phosphorylase
NAA35 : encoding protein N(alpha)-acetyltransferase 35, NatC auxiliary subunit
NANS : N-acetylneuraminate synthase
NINJ1 : ninjurin-1
NOL6 : nucleolar protein 6
NUDT2 : nudix hydrolase 2
OBP2B : encoding protein Odorant-binding protein 2B
OLFM1 : olfactomedin 1
PHF2 : PHD finger protein 2
PHPT1 : phosphohistidine phosphatase 1
PIP5K1B : phosphatidylinositol-4-phosphate 5-kinase type-1 beta
PLAA : phospholipase A-2-activating protein
PMPCA : mitochondrial processing alpha subunit
PRUNE2 : protein prune homolog 2
PTCH1 : protein patched 1 transmembrane receptor protein
RABGAP1 : RAB GTPase activating protein 1
REXO4 : RNA exonuclease 4
RNF183 : encoding protein Ring finger protein 183
SARDH : sarcosine dehydrogenase, mitochondrial
SIT1 : signaling threshold regulating transmembrane adapter 1
SLC25A25-AS1 : encoding protein SLC25A25 antisense RNA 1
SNORD24 : encoding protein small nucleolar RNA, C/D box 24
SPAG8 sperm-associated antigen 8
SPIN1 : spindlin-1
ST6GALNAC4 encoding enzyme ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4, also known as sialyltransferase 3C (SIAT3-C) or sialyltransferase 7D (SIAT7-D)
ST6GALNAC6 : ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6
STOML2 : stomatin-like protein 2
STRBP : spermatid perinuclear RNA-binding protein
TEX10 : testis expressed 10
TGFBR1 : transforming growth factor beta, receptor type I
TMC1 : transmembrane channel-like 1
TMEM215 : encoding protein Transmembrane protein 215
TMEM268 : Transmembrane protein 268
TOR2A encoding protein Torsin-2A
TSC1 : tuberous sclerosis complex 1
TTC39B : tetratricopeptide repeat protein 39B
UBAC1 : ubiquitin-associated domain containing protein 1
UBAP1 : ubiquitin-associated protein 1
UBAP2 : ubiquitin-associated protein 2
ZBTB43 : zinc finger and BTB domain containing 43
ZCCHC6 : zinc finger, CCHC domain containing 6
ZDHHC21 : zinc finger DHHC-type containing 21
ZNF79 : zinc finger protein 79
ZNF367 : encoding protein Zinc finger protein 367
ZNF510 : zinc finger protein 510
Diseases and disorders [ edit ]
The following diseases are some of those related to genes on chromosome 9:
G-banding ideogram of human chromosome 9 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 9 in three different resolutions (400,
[ 11] 550
[ 12] and 850
[ 3] ). Band length in this diagram is based on the ideograms from ISCN (2013).
[ 13] This type of ideogram represents actual relative band length observed under a microscope at the different moments during the
mitotic process .
[ 14]
G-bands of human chromosome 9 in resolution 850 bphs[ 15]
Chr.
Arm[ 16]
Band[ 17]
ISCN start[ 18]
ISCN stop[ 18]
Basepair start
Basepair stop
Stain[ 19]
Density
9
p
24.3
0
127
1
2,200,000
gneg
9
p
24.2
127
268
2,200,001
4,600,000
gpos
25
9
p
24.1
268
451
4,600,001
9,000,000
gneg
9
p
23
451
677
9,000,001
14,200,000
gpos
75
9
p
22.3
677
846
14,200,001
16,600,000
gneg
9
p
22.2
846
987
16,600,001
18,500,000
gpos
25
9
p
22.1
987
1085
18,500,001
19,900,000
gneg
9
p
21.3
1085
1297
19,900,001
25,600,000
gpos
100
9
p
21.2
1297
1395
25,600,001
28,000,000
gneg
9
p
21.1
1395
1621
28,000,001
33,200,000
gpos
100
9
p
13.3
1621
1917
33,200,001
36,300,000
gneg
9
p
13.2
1917
2030
36,300,001
37,900,000
gpos
25
9
p
13.1
2030
2171
37,900,001
39,000,000
gneg
9
p
12
2171
2312
39,000,001
40,000,000
gpos
50
9
p
11.2
2312
2523
40,000,001
42,200,000
gneg
9
p
11.1
2523
2650
42,200,001
43,000,000
acen
9
q
11
2650
2876
43,000,001
45,500,000
acen
9
q
12
2876
3468
45,500,001
61,500,000
gvar
9
q
13
3468
3609
61,500,001
65,000,000
gneg
9
q
21.11
3609
3792
65,000,001
69,300,000
gpos
25
9
q
21.12
3792
3876
69,300,001
71,300,000
gneg
9
q
21.13
3876
4060
71,300,001
76,600,000
gpos
50
9
q
21.2
4060
4229
76,600,001
78,500,000
gneg
9
q
21.31
4229
4440
78,500,001
81,500,000
gpos
50
9
q
21.32
4440
4638
81,500,001
84,300,000
gneg
9
q
21.33
4638
4835
84,300,001
87,800,000
gpos
50
9
q
22.1
4835
5074
87,800,001
89,200,000
gneg
9
q
22.2
5074
5173
89,200,001
91,200,000
gpos
25
9
q
22.31
5173
5314
91,200,001
93,900,000
gneg
9
q
22.32
5314
5455
93,900,001
96,500,000
gpos
25
9
q
22.33
5455
5638
96,500,001
99,800,000
gneg
9
q
31.1
5638
5892
99,800,001
105,400,000
gpos
100
9
q
31.2
5892
6005
105,400,001
108,500,000
gneg
9
q
31.3
6005
6146
108,500,001
112,100,000
gpos
25
9
q
32
6146
6456
112,100,001
114,900,000
gneg
9
q
33.1
6456
6681
114,900,001
119,800,000
gpos
75
9
q
33.2
6681
6822
119,800,001
123,100,000
gneg
9
q
33.3
6822
6949
123,100,001
127,500,000
gpos
25
9
q
34.11
6949
7217
127,500,001
130,600,000
gneg
9
q
34.12
7217
7302
130,600,001
131,100,000
gpos
25
9
q
34.13
7302
7443
131,100,001
133,100,000
gneg
9
q
34.2
7443
7555
133,100,001
134,500,000
gpos
25
9
q
34.3
7555
7950
134,500,001
138,394,717
gneg
^ a b "Search results - 1[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 9" . HUGO Gene Nomenclature Committee . 2017-05-12. Archived from the original on 2021-03-20. Retrieved 2017-05-19 .
^ "Chromosome 9: Chromosome summary - Homo sapiens" . Ensembl Release 88 . 2017-03-29. Retrieved 2017-05-19 .
^ "Human chromosome 9: entries, gene names and cross-references to MIM" . UniProt . 2018-02-28. Retrieved 2018-03-16 .
^ "Search results - 9[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene" . NCBI . 2017-05-19. Retrieved 2017-05-20 .
^ "Search results - 9[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 - 9[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene" . NCBI . 2017-05-19. Retrieved 2017-05-20 .
^ 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) . 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, Kauff N (2001). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 9". Genet Test . 5 (2): 157–74. doi :10.1089/109065701753145664 . PMID 11551106 .
Humphray SJ, Oliver K, Hunt AR, et al. (2004). "DNA sequence and analysis of human chromosome 9" . Nature . 429 (6990): 369–74. Bibcode :2004Natur.429..369H . doi :10.1038/nature02465 . PMC 2734081 . PMID 15164053 .
Wicking C, Berkman J, Wainwright B (1994). "Fine genetic mapping of the gene for nevoid basal cell carcinoma syndrome. Chromosome 9". Genomics . 22 (3): 505–11. doi :10.1006/geno.1994.1423 . PMID 8001963 .
Mäkelä-Bengs P, Järvinen N, Vuopala K, Suomalainen A, Palotie A, Peltonen L (1997). "The assignment the lethal congenital contracture syndrome (LCCS) locus to chromosome 9q33-34". Am. J. Hum. Genet . 61 (suppl): A30.
National Institutes of Health. "Chromosome 9" . Genetics Home Reference . Archived from the original on 2007-06-30. Retrieved 2017-05-06 .
"Chromosome 9" . Human Genome Project Information Archive 1990–2003 . Retrieved 2017-05-06 .
Basic concepts Types Processes and evolution Structures
See also