chromosome 2 chromosome 2 chromosome 2 is one of the twenty-three pairs of chromosomes in humans. people normally have two copies of this chromosome. chromosome 2 is the second-largest human chromosome, spanning more than 242 million base pairs and representing almost eight percent of the total dna in human cells. chromosome 2human chromosome 2 pair after g banding. one is from mother, one is from father.chromosome 2 pair in human male karyogram.featureslength (bp)242,696,752 bp(chm13)no. of genes1,194 (ccds)typeautosomecentromere positionsubmetacentric(93.9 mbp)complete gene listsccdsgene listhgncgene listuniprotgene listncbigene listexternal map viewersensemblchromosome 2entrezchromosome 2ncbichromosome 2ucscchromosome 2full dna sequencesrefseqnc_000002 (fasta) genbankcm000664 (fasta) fusion of ancestral chromosomes left distinctive remnants of telomeres, and a vestigial centromere chromosome 2 contains the hoxd homeobox gene cluster. chromosomes humans have only twenty-three pairs of chromosomes, while all other extant members of hominidae have twenty-four pairs. it is believed that neanderthals and denisovans had twenty-three pairs. human chromosome 2 is a result of an end-to-end fusion of two ancestral chromosomes. the evidence for this includes: the correspondence of chromosome 2 to two ape chromosomes. the closest human relative, the chimpanzee, has nearly identical dna sequences to human chromosome 2, but they are found in two separate chromosomes. the same is true of the more distant gorilla and orangutan. the presence of a vestigial 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. the presence of vestigial telomeres. 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. 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.— jacob w. ijdo genes number of genes the following are some of the gene count estimates of human chromosome 2. because researchers use different approaches to genome annotation their predictions of the number 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. estimated by protein-coding genes non-coding rna genes pseudogenes source release date ccds1,194—— 2016-09-08 hgnc1,196450931 2017-05-12 ensembl1,2921,5981,029 2017-03-29 uniprot1,274—— 2018-02-28 ncbi1,2811,4461,207 2017-05-19 list of genes the following is a partial list of genes on human chromosome 2. for complete list, see the link in the infobox on the right. p-arm partial list of the genes located on p-arm (short arm) of human chromosome 2: actr2: encoding protein actin-related protein 2 adi1: encoding enzyme 1,2-dihydroxy-3-keto-5-methylthiopentene dioxygenase aff3: encoding protein af4/fmr2 family member 3 aftph: encoding protein aftiphilin alms1: alstrom syndrome 1 abcg5 and abcg8: atp-binding cassette, subfamily a, members 5 and 8 asxl2: additional sex combs like 2, transcriptional regulator atoh8: encoding protein atonal bhlh transcription factor 8 atraid: encoding protein apoptosis-related protein 3 bcyrn1: bc200 lncrna c2orf16: unknown protein c2orf16 capg: capping acting protein ccdc104: coiled-coil domain containing 104 ccdc142: coiled-coil domain containing 142 ccdc142: coiled-coil domain containing 142 cgref1: encoding protein cell growth regulator with ef-hand domain 1 clec4f: encoding protein c-type lectin domain family 4 member f ctla4: cytotoxic t-lymphocyte antigen 4 cytor: cytoskeleton regulator rna dhx57: dexh-box helicase 57 dpysl5: dihydropyrimidinase like 5 erlec1: endoplasmic reticulum lectin 1 eva1a: encoding protein eva-1 homolog a (c. elegans) exoc6b: encoding protein exocyst complex component 6b fam49a: family with sequence similarity 49 member a fam98a: family with sequence similarity 98 member a fam136a: family with sequence similarity 136 member a fbxo11: f-box protein 11 fth1p3: encoding protein ferritin heavy chain 1 pseudogene 3 gen1 encoding protein gen1, holliday junction 5' flap endonuclease gckr: glucokinase regulator gfpt1: glutamine—fructose-6-phosphate transaminase 1 gkn1: gastrokine 1 gpatch11: g-patch domain containing protein 11 gtf2a1l: general transcription factor iia subunit 1 like hadha: hydroxyacyl-coenzyme a dehydrogenase/3-ketoacyl-coenzyme a thiolase/enoyl-coenzyme a hydratase (trifunctional protein), alpha subunit hadhb: hydroxyacyl-coenzyme a dehydrogenase/3-ketoacyl-coenzyme a thiolase/enoyl-coenzyme a hydratase (trifunctional protein), beta subunit hspc159: galectin-related protein id2-as1: encoding protein id2 antisense rna 1 (head to head) lclat1: encoding protein lysocardiolipin acyltransferase 1 lepqtl1: leptin, serum levels of mboat2: encoding protein membrane bound o-acyltransferase domain containing 2 memo1: mediator of cell motility 1 mphosph10: m-phase phosphoprotein 10 msh2: muts homolog 2, colon cancer, nonpolyposis type 1 (e. coli) msh6: muts homolog 6 (e. coli) mthfd2: bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial mtif2: mitochondrial translational initiation factor 2 ndufaf7: protein arginine methyltransferase ndufaf7, mitochondrial nrbp1: nuclear receptor-binding protein 1 odc1: ornithine decarboxylase otof: otoferlin paip2b: poly(a) binding protein interacting protein 2b park3 encoding protein parkinson disease 3 (autosomal dominant, lewy body) pcbp1-as1: encoding protein pcbp1 antisense rna 1 pcyox1: prenylcysteine oxidase 1 peli1: ubiquitin ligase plglb2: plasminogen-related protein b polr1a: dna-directed rna polymerase i subunit rpa1 prepl: prolyl endopeptidase-like pxdn: peroxidasin homolog qpct: glutaminyl-peptide cyclotransferase retsat: all-trans-retinol 13,14-reductase rnf103: encoding protein ring finger protein 103 rnf103-chmp3: encoding protein rnf103-chmp3 readthrough sh3yl1: sh3 and sylf domain-containing 1 slc35f6: encoding protein transmembrane protein slc35f6 tgoln2: trans-golgi network integral membrane protein 2 thada: encoding protein thyroid adenoma associated tia1: tia1 cytotoxic granule-associated rna binding protein tmem150: transmembrane protein 150a tp53i3: putative quinone oxidoreducatse tpo: thyroid peroxidase ttc7a: familial multiple intestinal atresia wbp1: ww domain-binding protein 1 wdcp: wd repeat and coiled coil containing protein wdpcp: encoding protein wd repeat containing planar cell polarity effector q-arm partial list of the genes located on q-arm (long arm) of human chromosome 2: abca12: atp-binding cassette, subfamily a (abc1), member 12 actr1b: encoding protein beta-centractin agxt: alanine-glyoxylate aminotransferase (oxalosis i; hyperoxaluria i; glycolicaciduria; serine-pyruvate aminotransferase) als2: amyotrophic lateral sclerosis 2 (juvenile) als2cr8: encoding protein amyotrophic lateral sclerosis 2 chromosomal region candidate gene 8 protein also known as calcium-response factor (carf) armc9: encoding protein lish domain-containing protein armc9 b3gnt7: encoding protein udp-glcnac:betagal beta-1,3-n-acetylglucosaminyltransferase 7 bcs1l: gracile (finnish heritage disease) related gene bmpr2: bone morphogenetic protein receptor, type ii (serine/threonine kinase) c2orf40: encoding protein augurin c2orf54: chromosome 2 open reading frame 54 ccdc115: encoding protein coiled-coil domain containing 115 ccdc138: coiled-coil domain-containing protein 138 ccdc74a: coiled-coil domain containing 74a ccdc88a: coiled-coil domain-containing protein 88a ccdc93: coiled-coil domain-containing protein 93 cdca7: cell division cycle associated protein 1 chpf: chondroitin sulfate synthase 2 ckap2l: encoding protein cytoskeleton associated protein 2 like col3a1: 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 4 col5a2: collagen, type v, alpha 2 des: desmin protein dis3l2: dis3 mitotic control homolog-like 2 ecel1: endothelin converting enzyme like 1 epc2: enhancer of polycomb homolog 2 epb41l5: encoding protein erythrocyte membrane protein band 4.1 like 5 erich2: encoding protein glutamate rich protein 2 fastkd1: fast kinase domain-containing protein 1 imp4: u3 small nucleolar ribonucleoprotein inpp1: inositol polyphosphate 1-phosphatase inpp4a: inositol polyphosphate-4-phosphatase type a itm2c: integral membrane protein 2c kansl3: kat8 regulatory nsl complex subunit 3 kiaa1211l: uncharacterized protein kiaa1211- like lancl1: lanc like 1 linc00607: long intergenic non-protein coding rna 607 loc100287387: loc100287387 mall: mal-like protein mbd5: encoding protein methyl-cpg binding domain protein 5 mfsd2b: encoding protein major facilitator superfamily domain containing 2b mgat5: mannosyl (alpha-1,6-)-glycoprotein beta-1,6-n-acetyl-glucosaminyltransferase mir375: encoding protein microrna 375 mir561: encoding protein microrna 561 nabp1: nucleic acid binding protein 1 neurl3: encoding protein neuralized e3 ubiquitin protein ligase 3 ncl: nucleolin nr4a2: nuclear receptor subfamily 4, group a, member 2 ola1: obg-like atpase 1 pard3b encoding protein partitioning defective 3 homolog b pax3: paired box gene 3 (waardenburg syndrome 1) pax8: paired box gene 8 pid1: phosphotyrosine interaction domain containing 1 polr1b: dna-directed rna polymerase i subunit rpa2 prr21: proline-rich protein 21 prss56: putative serine protease 56 rbm44: rna binding motif protein 44 rfx8: rfx family member 8, lacking rfx dna binding domain rif1: replication timing regulatory factor 1 rnu4atac: rna, u4atac small nuclear (u12-dependent splicing) rpl37a: encoding protein 60s ribosomal protein l37a satb2: homeobox 2 scarna5: small cajal body-specific rna 5 sdpr: serum deprivation-response protein sgol2: shugoshin-like 2 sh3bp4: sh3 domain-binding protein 4 slc9a4: solute carrier family 9 member a4 slc40a1: solute carrier family 40 (iron-regulated transporter), member 1 smpd4: sphingomyelin phosphodiesterase 4 sp140: encoding protein sp140 nuclear body protein sp140l: encoding protein sp140 nuclear body protein like spats2l: spermatogenesis associated, serine-rich 2-like protein ssb: sjogren syndrome antigen b ssfa2: sperm-specific antigen 2 stk11ip: encoding protein serine/threonine kinase 11 interacting protein tbr1: t-box, brain, 1 thap4: thap domain-containing protein 4 tmbim1: transmembrane bax inhibitor motif-containing protein 1 tmem182: encoding protein transmembrane protein 182 tnrc15: perq amino acid-rich with gyf domain-containing protein 2 tsga10 encoding protein testis specific 10 ttn: titin tuba4b: encoding protein tubulin alpha 4b ube2f: encoding protein ubiquitin conjugating enzyme e2 f (putative) ubxd2: ubx domain-containing protein 4 uxs1: udp-glucuronic acid decarboxylase 1 vil1: encoding protein villin 1 xirp2: xin actin-binding repeat-containing protein 2 zeb2-as1: encoding protein zeb2-as1 znf142: zinc finger protein 142 znf2: encoding protein zinc finger protein 2 related disorders and traits the following diseases and traits are related to genes located on chromosome 2: 2p15-16.1 microdeletion syndrome autism alport syndrome alström syndrome amyotrophic lateral sclerosis brachydactyly type d cleft chin congenital hypothyroidism crigler-najjar types i/ii dementia with lewy bodies ehlers–danlos syndrome ehlers–danlos syndrome, classical type ehlers–danlos syndrome, vascular type fibrodysplasia ossificans progressiva gilbert's syndrome harlequin type ichthyosis hemochromatosis hemochromatosis type 4 hereditary nonpolyposis colorectal cancer infantile-onset ascending hereditary spastic paralysis juvenile primary lateral sclerosis lactose intolerance long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency lowry-wood syndrome maturity onset diabetes of the young type 6 mitochondrial trifunctional protein deficiency nonsyndromic deafness photic sneeze reflex primary hyperoxaluria primary pulmonary hypertension sitosterolemia (knockout of either abcg5 or abcg8) sensenbrenner syndrome synesthesia waardenburg syndrome cytogenetic band g-banding ideograms of human chromosome 2g-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, 550 and 850). band length in this diagram is based on the ideograms from iscn (2013). this type of ideogram represents actual relative band length observed under a microscope at the different moments during the mitotic process. g-bands of human chromosome 2 in resolution 850 bphs chr. arm band iscnstart iscnstop basepairstart basepairstop stain density 2p 25.3038814,400,000 gneg 2p 25.23885664,400,0016,900,000 gpos50 2p 25.15669546,900,00112,000,000 gneg 2p 24.3954119312,000,00116,500,000 gpos75 2p 24.21193131216,500,00119,000,000 gneg 2p 24.11312156519,000,00123,800,000 gpos75 2p 23.31565178923,800,00127,700,000 gneg 2p 23.21789190827,700,00129,800,000 gpos25 2p 23.11908202729,800,00131,800,000 gneg 2p 22.32027229631,800,00136,300,000 gpos75 2p 22.22296241536,300,00138,300,000 gneg 2p 22.12415260938,300,00141,500,000 gpos50 2p 212609296641,500,00147,500,000 gneg 2p 16.32966322047,500,00152,600,000 gpos100 2p 16.23220329452,600,00154,700,000 gneg 2p 16.13294354854,700,00161,000,000 gpos100 2p 153548375761,000,00163,900,000 gneg 2p 143757393563,900,00168,400,000 gpos50 2p 13.33935411468,400,00171,300,000 gneg 2p 13.24114424871,300,00173,300,000 gpos50 2p 13.14248435373,300,00174,800,000 gneg 2p 124353486074,800,00183,100,000 gpos100 2p 11.24860530783,100,00191,800,000 gneg 2p 11.15307554591,800,00193,900,000 acen 2q 11.15545572493,900,00196,000,000 acen 2q 11.25724602296,000,001102,100,000 gneg 2q 12.160226261102,100,001105,300,000 gpos50 2q 12.262616395105,300,001106,700,000 gneg 2q 12.363956559106,700,001108,700,000 gpos25 2q 1365596812108,700,001112,200,000 gneg 2q 14.168127036112,200,001118,100,000 gpos50 2q 14.270367334118,100,001121,600,000 gneg 2q 14.373347602121,600,001129,100,000 gpos50 2q 21.176027826129,100,001131,700,000 gneg 2q 21.278268050131,700,001134,300,000 gpos25 2q 21.380508169134,300,001136,100,000 gneg 2q 22.181698437136,100,001141,500,000 gpos100 2q 22.284378497141,500,001143,400,000 gneg 2q 22.384978646143,400,001147,900,000 gpos100 2q 23.186468735147,900,001149,000,000 gneg 2q 23.287358795149,000,001149,600,000 gpos25 2q 23.387959078149,600,001154,000,000 gneg 2q 24.190789361154,000,001158,900,000 gpos75 2q 24.293619585158,900,001162,900,000 gneg 2q 24.395859928162,900,001168,900,000 gpos75 2q 31.1992810435168,900,001177,100,000 gneg 2q 31.21043510599177,100,001179,700,000 gpos50 2q 31.31059910733179,700,001182,100,000 gneg 2q 32.11073311091182,100,001188,500,000 gpos75 2q 32.21109111225188,500,001191,100,000 gneg 2q 32.31122511538191,100,001196,600,000 gpos75 2q 33.11153811925196,600,001202,500,000 gneg 2q 33.21192512060202,500,001204,100,000 gpos50 2q 33.31206012283204,100,001208,200,000 gneg 2q 341228312641208,200,001214,500,000 gpos100 2q 351264113014214,500,001220,700,000 gneg 2q 36.11301413237220,700,001224,300,000 gpos75 2q 36.21323713297224,300,001225,200,000 gneg 2q 36.31329713595225,200,001230,100,000 gpos100 2q 37.11359513893230,100,001234,700,000 gneg 2q 37.21389313998234,700,001236,400,000 gpos50 2q 37.31399814400236,400,001242,193,529 gneg