Human chromosome
Fusion of ancestral chromosomes left distinctive remnants of telomeres, and a vestigial centromere Chromosome 2 is one of the twenty-three pairs ofchromosomes inhumans . People normally have two copies of this chromosome. Chromosome 2 is the second-largest human chromosome, spanning more than 242 millionbase pairs [ 4] DNA in humancells .
Chromosome 2 contains the HOXDhomeobox gene cluster.[ 5]
Humans have only twenty-three pairs of chromosomes, while all other extant members ofHominidae have twenty-four pairs.[ 6] Neanderthals andDenisovans had twenty-three pairs.[ 6]
Human chromosome 2 is a result of an end-to-end fusion of two ancestral chromosomes.[ 7] [ 8] [ 9]
The correspondence of chromosome 2 to twoape chromosomes. The closest human relative, thechimpanzee , has nearly identicalDNA sequences to human chromosome 2, but they are found in two separate chromosomes. The same is true of the more distantgorilla andorangutan .[ 10] [ 11] The presence of avestigial centromere . Normally a chromosome has just one centromere, but in chromosome 2 there are remnants of a second centromere in the q21.3–q22.1 region.[ 12] The presence of vestigialtelomeres . These are normally found only at the ends of a chromosome, but in chromosome 2 there are additional telomere sequences in the q13 band, far from either end of the chromosome.[ 13] We conclude that the locus cloned in cosmids c8.1 and c29B is the relic of an ancient telomere-telomere fusion and marks the point at which two ancestral ape chromosomes fused to give rise to human chromosome 2.
The following are some of the gene count estimates of human chromosome 2. Because researchers use different approaches togenome annotation , theirpredictions of thenumber of genes on each chromosome vary. 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.[ 14]
The following is a partial list of genes on human chromosome 2. For complete list, see the link in the infobox on the right.
Partial list of the genes located on p-arm (short arm) of human chromosome 2:
ACTR2 : encodingprotein Actin-related protein 2ADI1 : encodingenzyme 1,2-dihydroxy-3-keto-5-methylthiopentene dioxygenaseAFF3 : encodingprotein AF4/FMR2 family member 3AFTPH : encodingprotein AftiphilinALMS1 : Alstrom syndrome 1ABCG5 and ABCG8 : ATP-binding cassette, subfamily A, members 5 and 8ASXL2 : Additional sex combs like 2, transcriptional regulatorATOH8 : encoding protein Atonal bHLH transcription factor 8ATRAID : encodingprotein Apoptosis-related protein 3BCYRN1 : BC200 lncRNAC2orf16 : unknown protein C2orf16CAPG : capping acting proteinCCDC104 : Coiled-coil domain containing 104CCDC142 : Coiled-coil domain containing 142CCDC142 : Coiled-Coil Domain Containing 142CGREF1 : encoding protein Cell growth regulator with EF-hand domain 1CLEC4F : encoding protein C-type lectin domain family 4 member FCTLA4 : cytotoxic T-Lymphocyte Antigen 4CYTOR : Cytoskeleton regulator RNADHX57 : DExH-box helicase 57DPYSL5 : Dihydropyrimidinase like 5ERLEC1 : Endoplasmic reticulum lectin 1EVA1A : encodingprotein Eva-1 homolog A (C. elegans)EXOC6B : encoding protein Exocyst complex component 6bFAM49A : Family with sequence similarity 49 member AFAM98A : Family with sequence similarity 98 member AFAM136A : Family with sequence similarity 136 member AFBXO11 : F-box protein 11FTH1P3 : encoding protein Ferritin heavy chain 1 pseudogene 3GEN1 encodingprotein GEN1, Holliday junction 5' flap endonucleaseGCKR : Glucokinase regulatorGFPT1 : glutamine—fructose-6-phosphate transaminase 1GKN1 : gastrokine 1GPATCH11 : G-patch domain containing protein 11GTF2A1L : General transcription factor IIA subunit 1 likeHADHA : hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunitHADHB : hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunitHSPC159 : Galectin-related proteinID2-AS1 : encoding protein Id2 antisense rna 1 (head to head)LCLAT1 : encoding protein Lysocardiolipin acyltransferase 1LEPQTL1 : Leptin, serum levels ofMBOAT2 : encoding protein Membrane bound o-acyltransferase domain containing 2MEMO1 : Mediator of cell motility 1MPHOSPH10 : M-phase phosphoprotein 10MSH2 : mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli MSH6 : mutS homolog 6 (E. coli MTHFD2 : Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrialMTIF2 : mitochondrial translational initiation factor 2NDUFAF7 : Protein arginine methyltransferase NDUFAF7, mitochondrialNRBP1 : Nuclear receptor-binding protein 1ODC1 : Ornithine decarboxylaseOTOF : otoferlinPAIP2B : Poly(a) binding protein interacting protein 2bPARK3 encodingprotein Parkinson disease 3 (autosomal dominant, Lewy body)PCBP1-AS1 : encoding protein PCBP1 antisense RNA 1PCYOX1 : prenylcysteine oxidase 1PELI1 :Ubiquitin ligase PLGLB2 : Plasminogen-related protein BPOLR1A : DNA-directed RNA polymerase I subunit RPA1PREPL : Prolyl endopeptidase-likePXDN : Peroxidasin homologQPCT : Glutaminyl-peptide cyclotransferaseRETSAT : All-trans-retinol 13,14-reductaseRNF103 : encoding protein Ring finger protein 103RNF103-CHMP3 : encoding protein RNF103-CHMP3 readthroughSH3YL1 : SH3 and SYLF domain-containing 1SLC35F6 : encodingprotein Transmembrane protein SLC35F6TGOLN2 : Trans-Golgi network integral membrane protein 2THADA : encodingprotein Thyroid adenoma associatedTIA1 : TIA1 cytotoxic granule-associated RNA binding proteinTMEM150 : Transmembrane protein 150ATP53I3 : Putative quinone oxidoreducatseTPO : thyroid peroxidaseTTC7A : familial multiple intestinal atresiaWBP1 : WW domain-binding protein 1WDCP : WD Repeat and Coiled Coil Containing ProteinWDPCP : encoding protein Wd repeat containing planar cell polarity effectorPartial list of the genes located on q-arm (long arm) of human chromosome 2:
ABCA12 : ATP-binding cassette, subfamily A (ABC1), member 12ACTR1B : encodingprotein Beta-centractinAGXT : alanine-glyoxylate aminotransferase (oxalosis I; hyperoxaluria I; glycolicaciduria; serine-pyruvate aminotransferase)ALS2 : amyotrophic lateral sclerosis 2 (juvenile)ALS2CR8 : encodingprotein Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 8 protein also known as calcium-response factor (CaRF)ARMC9 : encodingprotein LisH domain-containing protein ARMC9B3GNT7 : encodingprotein UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7BCS1L : GRACILE (Finnish heritage disease) related geneBMPR2 : bone morphogenetic protein receptor, type II (serine/threonine kinase)C2orf40 : encoding protein AugurinC2orf54 : Chromosome 2 open reading frame 54CCDC115 : encoding protein Coiled-coil domain containing 115CCDC138 : Coiled-coil domain-containing protein 138CCDC74A : Coiled-coil domain containing 74aCCDC88A : Coiled-coil domain-containing protein 88ACCDC93 : Coiled-coil domain-containing protein 93CDCA7 : Cell division cycle associated protein 1CHPF : Chondroitin sulfate synthase 2CKAP2L : encoding protein Cytoskeleton associated protein 2 likeCOL3A1 : collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)COL4A3 : collagen, type IV, alpha 3 (Goodpasture antigen)COL4A4 : collagen, type IV, alpha 4COL5A2 : collagen, type V, alpha 2DES :Desmin proteinDIS3L2 : DIS3 mitotic control homolog-like 2ECEL1 : Endothelin converting enzyme like 1EPC2 : Enhancer of polycomb homolog 2EPB41L5 : encodingprotein Erythrocyte membrane protein band 4.1 like 5ERICH2 : encodingprotein Glutamate rich protein 2FASTKD1 : FAST kinase domain-containing protein 1IMP4 : U3 small nucleolar ribonucleoproteinINPP1 : Inositol polyphosphate 1-phosphataseINPP4A : inositol polyphosphate-4-phosphatase type AITM2C : Integral membrane protein 2CKANSL3 : KAT8 regulatory NSL complex subunit 3KIAA1211L : Uncharacterized Protein KIAA1211- LikeLANCL1 : LanC like 1LINC00607 : Long intergenic non-protein coding RNA 607LOC100287387 : LOC100287387MALL : MAL-like proteinMBD5 : encoding protein Methyl-cpg binding domain protein 5MFSD2B : encoding protein Major facilitator superfamily domain containing 2bMGAT5 : mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferaseMIR375 : encoding protein MicroRNA 375MIR561 : encoding protein MicroRNA 561NABP1 : Nucleic acid binding protein 1NEURL3 : encodingprotein Neuralized E3 ubiquitin protein ligase 3NCL : NucleolinNR4A2 : nuclear receptor subfamily 4, group A, member 2OLA1 : Obg-like ATPase 1PARD3B encodingprotein Partitioning defective 3 homolog BPAX3 : paired box gene 3 (Waardenburg syndrome 1)PAX8 : paired box gene 8PID1 : Phosphotyrosine interaction domain containing 1POLR1B : DNA-directed RNA polymerase I subunit RPA2PRR21 : Proline-rich protein 21PRSS56 : Putative serine protease 56RBM44 : Rna binding motif protein 44RFX8 : Rfx family member 8, lacking rfx dna binding domainRIF1 : replication timing regulatory factor 1RNU4ATAC : RNA, U4atac small nuclear (U12-dependent splicing)RPL37A : encodingprotein 60S ribosomal protein L37aSATB2 :Homeobox 2 SCARNA5 : Small Cajal body-specific RNA 5SDPR : Serum deprivation-response proteinSGOL2 : Shugoshin-like 2SH3BP4 : SH3 domain-binding protein 4SLC9A4 : solute carrier family 9 member A4SLC40A1 : solute carrier family 40 (iron-regulated transporter), member 1SMPD4 : Sphingomyelin phosphodiesterase 4SP140 : encodingprotein SP140 nuclear body proteinSP140L : encoding protein Sp140 nuclear body protein likeSPATS2L : spermatogenesis associated, serine-rich 2-like proteinSSB : Sjögren syndrome antigen BSSFA2 : Sperm-specific antigen 2STK11IP : encoding protein Serine/threonine kinase 11 interacting proteinTBR1 :T-box ,brain , 1THAP4 : THAP domain-containing protein 4TMBIM1 : Transmembrane BAX inhibitor motif-containing protein 1TMEM182 : encoding protein Transmembrane protein 182TNRC15 : PERQ amino acid-rich withGYF domain -containing protein 2TSGA10 encodingprotein Testis specific 10TTN : titinTUBA4B : encoding protein Tubulin alpha 4bUBE2F : encoding protein Ubiquitin conjugating enzyme E2 F (putative)UBXD2 : UBX domain-containing protein 4UXS1 : UDP-glucuronic acid decarboxylase 1VIL1 : encoding protein Villin 1XIRP2 : Xin actin-binding repeat-containing protein 2ZEB2-AS1 : encoding protein ZEB2-AS1ZNF142 : zinc finger protein 142ZNF2 : encoding protein Zinc finger protein 2Related disorders and traits [ edit ] The following diseases and traits are related to genes located on chromosome 2:
G-banding ideograms of human chromosome 2
G-banding ideogram of human chromosome 2 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 2 in three different resolutions (400,
[ 25] 550
[ 26] and 850
[ 3] ). Band length in this diagram is based on the ideograms from ISCN (2013).
[ 27] This type of ideogram represents actual relative band length observed under a microscope at the different moments during the
mitotic process .
[ 28] G-bands of human chromosome 2 in resolution 850 bphs[ 3] Chr. Arm[ 29] Band[ 30] ISCN[ 31] ISCN[ 31] Basepair Basepair Stain[ 32] Density 2 p 25.3 0 388 gneg 2 p 25.2 388 566 gpos 50 2 p 25.1 566 954 gneg 2 p 24.3 954 1193 gpos 75 2 p 24.2 1193 1312 gneg 2 p 24.1 1312 1565 gpos 75 2 p 23.3 1565 1789 gneg 2 p 23.2 1789 1908 gpos 25 2 p 23.1 1908 2027 gneg 2 p 22.3 2027 2296 gpos 75 2 p 22.2 2296 2415 gneg 2 p 22.1 2415 2609 gpos 50 2 p 21 2609 2966 gneg 2 p 16.3 2966 3220 gpos 100 2 p 16.2 3220 3294 gneg 2 p 16.1 3294 3548 gpos 100 2 p 15 3548 3757 gneg 2 p 14 3757 3935 gpos 50 2 p 13.3 3935 4114 gneg 2 p 13.2 4114 4248 gpos 50 2 p 13.1 4248 4353 gneg 2 p 12 4353 4860 gpos 100 2 p 11.2 4860 5307 gneg 2 p 11.1 5307 5545 acen 2 q 11.1 5545 5724 acen 2 q 11.2 5724 6022 gneg 2 q 12.1 6022 6261 gpos 50 2 q 12.2 6261 6395 gneg 2 q 12.3 6395 6559 gpos 25 2 q 13 6559 6812 gneg 2 q 14.1 6812 7036 gpos 50 2 q 14.2 7036 7334 gneg 2 q 14.3 7334 7602 gpos 50 2 q 21.1 7602 7826 gneg 2 q 21.2 7826 8050 gpos 25 2 q 21.3 8050 8169 gneg 2 q 22.1 8169 8437 gpos 100 2 q 22.2 8437 8497 gneg 2 q 22.3 8497 8646 gpos 100 2 q 23.1 8646 8735 gneg 2 q 23.2 8735 8795 gpos 25 2 q 23.3 8795 9078 gneg 2 q 24.1 9078 9361 gpos 75 2 q 24.2 9361 9585 gneg 2 q 24.3 9585 9928 gpos 75 2 q 31.1 9928 10435 gneg 2 q 31.2 10435 10599 gpos 50 2 q 31.3 10599 10733 gneg 2 q 32.1 10733 11091 gpos 75 2 q 32.2 11091 11225 gneg 2 q 32.3 11225 11538 gpos 75 2 q 33.1 11538 11925 gneg 2 q 33.2 11925 12060 gpos 50 2 q 33.3 12060 12283 gneg 2 q 34 12283 12641 gpos 100 2 q 35 12641 13014 gneg 2 q 36.1 13014 13237 gpos 75 2 q 36.2 13237 13297 gneg 2 q 36.3 13297 13595 gpos 100 2 q 37.1 13595 13893 gneg 2 q 37.2 13893 13998 gpos 50 2 q 37.3 13998 14400 gneg
^a b "Search results – 2[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) – Gene" .NCBI . CCDS Release 20 forHomo sapiens . 8 September 2016. Retrieved28 May 2017 .^ Tom Strachan; Andrew Read (2 April 2010).Human Molecular Genetics 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. ^ Hillier ; et al. (2005)."Generation and annotation of the DNAD sequences of human chromosomes 2 and 4" .Nature .434 (7034):724– 31.Bibcode :2005Natur.434..724H .doi :10.1038/nature03466 PMID 15815621 .^ Vega Homo sapiens genome browser: HoxD cluster on Chromosome 2 ^a b Meyer M, Kircher M, Gansauge MT, Li H, Racimo F, Mallick S, et al. (October 2012)."A high-coverage genome sequence from an archaic Denisovan individual" .Science .338 (6104):222– 6.Bibcode :2012Sci...338..222M .doi :10.1126/science.1224344 .PMC 3617501 PMID 22936568 . ^ It has been hypothesized that Human Chromosome 2 is a fusion of two ancestral chromosomes by Alec MacAndrew; accessed 18 May 2006.^ "Chromosome 2 in the Great Apes – YouTube" . 8 November 2007.Archived from the original on 21 December 2021. Retrieved24 July 2020 – via YouTube.^ "Chromosome 2--Re-Upload – YouTube" . 11 April 2018.Archived from the original on 21 December 2021. Retrieved24 July 2020 – via YouTube.^ Yunis and Prakash; Prakash, O (1982). "The origin of man: a chromosomal pictorial legacy".Science .215 (4539):1525– 30.Bibcode :1982Sci...215.1525Y .doi :10.1126/science.7063861 .PMID 7063861 . ^ Human and Ape Chromosomes Archived 6 September 2017 at theWayback Machine ; accessed 8 September 2007.^ Avarello; et al. (1992). "Evidence for an ancestral alphoid domain on the long arm of human chromosome 2".Human Genetics .89 (2):247– 9.doi :10.1007/BF00217134 .PMID 1587535 .S2CID 1441285 . ^a b Ijdo, Jacob W.; et al. (1991)."Origin of human chromosome 2: an ancestral telomere-telomere fusion" .Proc. Natl. Acad. Sci. U.S.A .88 (20):9051– 5.Bibcode :1991PNAS...88.9051I .doi :10.1073/pnas.88.20.9051 PMC 52649 PMID 1924367 . ^ 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 2" .HUGO Gene Nomenclature Committee . 12 May 2017. Archived fromthe original on 29 June 2017. Retrieved19 May 2017 .^ "Chromosome 2: Chromosome summary – Homo sapiens" .Ensembl Release 88 . 29 March 2017. Retrieved19 May 2017 .^ "Human chromosome 2: entries, gene names and cross-references to MIM" .UniProt . 28 February 2018. 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Basic Types Processes Structures
See also
