Human chromosome
Chromosome 9 is one of the 23 pairs ofchromosomes inhumans . Humans normally have two copies of this chromosome, as they normally do with all chromosomes. Chromosome 9 spans about 138 millionbase pairs ofnucleic acids (the building blocks ofDNA ) and represents between 4.0 and 4.5% of the total DNA incells .
These are some of the gene count estimates of human chromosome 9. Because researchers use different approaches togenome annotation , their predictions of thenumber of genes on each chromosome varies (for technical details, seegene 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.
TheABO gene , which determinesABO blood type , is located on the long arm of this chromosome. (Location: 9q34.2) ABO : ABO histo-blood group glycosyltransferasesACTL7A : encodingprotein Actin-like protein 7AADAMTS13 : ADAM metallopeptidase with thrombospondin type 1 motif, 13AIF1L : allograft inflammatory factor 1-likeALAD : aminolevulinate, delta-, dehydrataseALS4 : amyotrophic lateral sclerosis 4ANGPTL2 : angiopoietin-related protein 2ASS : argininosuccinate synthetaseBANCR : encoding protein BRAF-activated non-protein coding RNABNC2 : zinc finger protein basonuclin-2C9orf64 : chromosome 9 open reading frame 64C9orf78 : encodingprotein Uncharacterized protein C9orf78SHOC1 : Shortage In Chiasmata 1C9orf25 : encoding protein Chromosome 9 open reading frame 25C9orf43 : encoding protein Chromosome 9 open reading frame 43C9orf135 : encoding protein Chromosome 9 open reading frame 135C9orf152 : chromosome 9 open reading frame 152C9orf156 : encoding protein Chromosome 9 open reading frame 156CAAP1 : caspase activity and apoptosis inhibitor 1CARD19 : caspase recruitment domain family member 19CBWD1 : COBW domain-containing protein 1CCDC180 : Coiled coil domain-containing protein 180CCL21 : chemokine (C-C motif) ligand 21, SCYA21CCL27 : chemokine (C-C motif) ligand 27, SCYA27CFAP157 : Cilia and flagella associated protein 157CHMP5 : Charged multivesicular body protein 5CNTLN : centleinCDKN2BAS : CDKN2B antisense RNA 1 or antisense non-coding RNA in the INK4 locus (ANRIL)COL5A1 : collagen, type V, alpha 1DDX31 : DEAD box polypeptide 31DENND1A : DENN domain-containing protein 1AENG : endoglin (Osler-Rendu-Weber syndrome 1)ENTPD2 : encodingenzyme ectonucleoside triphosphate diphosphohydrolase 2EQTN : equatorinFAM73B : family with sequence similarity 73 member BFAM120A : Family with sequence similarity 120 member AFAM122a : encodingprotein Family with sequence similarity 122AFBP1 : Fructose-1,6-bisphosphatase 1FIBCD1 : encodingprotein Fibrinogen C domain containing 1FOCAD : focadhesinFXN : frataxinGALT : galactose-1-phosphate uridylyltransferaseGAS1 : growth arrest-specific protein 1GCNT1 : glucosaminyl (N-acetyl) transferase 1GLE1L : Nucleoporin GLE1GPR107 : G protein-coupled receptor 107GRHPR : glyoxylate redasductase/hydroxypyruvate reductaseGSN : cytoplasmic and plasma gelsolinHAUS6 : HAUS augmin-like complex subunit 6HEMGN : encoding protein hemogenIFN1@ : Interferon, type 1, clusterIKBKAP : inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated proteinINSL6 : insulin like 6ISCA1 : iron-sulfur cluster assembly 1 homolog, mitochondrialKIAA1958 : protein KIAA1958KYAT1 : Kynurenine aminotransferase 1LINGO2 : leucine rich repeat and Ig domain containing 2LOC101928193 : encoding protein LOC101928193MGC50722 : Protein MGC50722, Uncharacterized Protein LOC399693MIR181A2HG : encodingprotein MIR181A2 host geneMIR7-1 : microRNA 7-1 MSMP : encodingprotein Microseminoprotein, prostate associatedMTAP : S-methyl-5'-thioadenosine phosphorylaseNAA35 : encodingprotein N(alpha)-acetyltransferase 35, NatC auxiliary subunitNANS : N-acetylneuraminate synthaseNINJ1 : ninjurin-1NOL6 : nucleolar protein 6NUDT2 : nudix hydrolase 2OBP2B : encoding protein Odorant-binding protein 2BOLFM1 : olfactomedin 1PHF2 : PHD finger protein 2PHPT1 : phosphohistidine phosphatase 1PIP5K1B : phosphatidylinositol-4-phosphate 5-kinase type-1 betaPLAA : phospholipase A-2-activating proteinPMPCA : mitochondrial processing alpha subunitPRUNE2 : protein prune homolog 2PTCH1 : protein patched 1 transmembrane receptor proteinRABGAP1 : RAB GTPase activating protein 1REXO4 : RNA exonuclease 4RNF183 : encodingprotein Ring finger protein 183SARDH : sarcosine dehydrogenase, mitochondrialSIT1 : signaling threshold regulating transmembrane adapter 1SLC25A25-AS1 : encodingprotein SLC25A25 antisense RNA 1SNORD24 : encoding protein small nucleolar RNA, C/D box 24SPAG8 : sperm-associated antigen 8SPIN1 : spindlin-1ST6GALNAC4 : encodingenzyme 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 6STOML2 : stomatin-like protein 2STRBP : spermatid perinuclear RNA-binding proteinTEX10 : testis expressed 10TGFBR1 : transforming growth factor beta, receptor type ITMC1 : transmembrane channel-like 1TMEM215 : encodingprotein Transmembrane protein 215TMEM268 : Transmembrane protein 268TOR2A : encodingprotein Torsin-2ATSC1 : tuberous sclerosis complex 1TTC39B : tetratricopeptide repeat protein 39BUBAC1 : ubiquitin-associated domain containing protein 1UBAP1 : ubiquitin-associated protein 1UBAP2 : ubiquitin-associated protein 2ZBTB43 : zinc finger and BTB domain containing 43ZCCHC6 : zinc finger, CCHC domain containing 6ZDHHC21 : zinc finger DHHC-type containing 21ZNF79 : zinc finger protein 79ZNF367 : encoding protein Zinc finger protein 367ZNF510 : zinc finger protein 510Diseases and disorders [ edit ] The following diseases are some of those related to genes on chromosome 9:
G-banding ideograms of human 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[ 18] ISCN[ 18] Basepair Basepair Stain[ 19] Density 9 p 24.3 0 127 gneg 9 p 24.2 127 268 gpos 25 9 p 24.1 268 451 gneg 9 p 23 451 677 gpos 75 9 p 22.3 677 846 gneg 9 p 22.2 846 987 gpos 25 9 p 22.1 987 1085 gneg 9 p 21.3 1085 1297 gpos 100 9 p 21.2 1297 1395 gneg 9 p 21.1 1395 1621 gpos 100 9 p 13.3 1621 1917 gneg 9 p 13.2 1917 2030 gpos 25 9 p 13.1 2030 2171 gneg 9 p 12 2171 2312 gpos 50 9 p 11.2 2312 2523 gneg 9 p 11.1 2523 2650 acen 9 q 11 2650 2876 acen 9 q 12 2876 3468 gvar 9 q 13 3468 3609 gneg 9 q 21.11 3609 3792 gpos 25 9 q 21.12 3792 3876 gneg 9 q 21.13 3876 4060 gpos 50 9 q 21.2 4060 4229 gneg 9 q 21.31 4229 4440 gpos 50 9 q 21.32 4440 4638 gneg 9 q 21.33 4638 4835 gpos 50 9 q 22.1 4835 5074 gneg 9 q 22.2 5074 5173 gpos 25 9 q 22.31 5173 5314 gneg 9 q 22.32 5314 5455 gpos 25 9 q 22.33 5455 5638 gneg 9 q 31.1 5638 5892 gpos 100 9 q 31.2 5892 6005 gneg 9 q 31.3 6005 6146 gpos 25 9 q 32 6146 6456 gneg 9 q 33.1 6456 6681 gpos 75 9 q 33.2 6681 6822 gneg 9 q 33.3 6822 6949 gpos 25 9 q 34.11 6949 7217 gneg 9 q 34.12 7217 7302 gpos 25 9 q 34.13 7302 7443 gneg 9 q 34.2 7443 7555 gpos 25 9 q 34.3 7555 7950 gneg
^a b "Search results - 1[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene" .NCBI . CCDS Release 20 forHomo sapiens . 2016-09-08. Retrieved2017-05-28 .^ 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 9" .HUGO Gene Nomenclature Committee . 2017-05-12. Archived fromthe original on 2021-03-20. Retrieved2017-05-19 .^ "Chromosome 9: Chromosome summary - Homo sapiens" .Ensembl Release 88 . 2017-03-29. Retrieved2017-05-19 .^ "Human chromosome 9: entries, gene names and cross-references to MIM" .UniProt . 2018-02-28. Retrieved2018-03-16 .^ "Search results - 9[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene" .NCBI . 2017-05-19. Retrieved2017-05-20 .^ "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. Retrieved2017-05-20 .^ "Search results - 9[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene" .NCBI . 2017-05-19. Retrieved2017-05-20 .^ 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) 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 articlelocus . ^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 byG banding , generallyAT-rich and gene poor;gneg : Region which is negatively stained by G banding, generallyCG-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 fromthe original on 2007-06-30. Retrieved2017-05-06 . "Chromosome 9" .Human Genome Project Information Archive 1990–2003 . Retrieved2017-05-06 .
Basic Types Processes Structures
See also
