chromosome 5 chromosome 5 chromosome 5 is one of the 23 pairs of chromosomes in humans. people normally have two copies of this chromosome. chromosome 5 spans about 182 million base pairs (the building blocks of dna) and represents almost 6% of the total dna in cells. chromosome 5 is the 5th largest human chromosome, yet has one of the lowest gene densities. this is partially explained by numerous gene-poor regions that display a remarkable degree of non-coding and syntenic conservation with non-mammalian vertebrates, suggesting they are functionally constrained. chromosome 5human chromosome 5 pair after g-banding.one is from mother, one is from father.chromosome 5 pair in human male karyogram.featureslength (bp)182,045,439 bp(chm13)no. of genes839 (ccds)typeautosomecentromere positionsubmetacentric(48.8 mbp)complete gene listsccdsgene listhgncgene listuniprotgene listncbigene listexternal map viewersensemblchromosome 5entrezchromosome 5ncbichromosome 5ucscchromosome 5full dna sequencesrefseqnc_000005 (fasta) genbankcm000667 (fasta) because chromosome 5 is responsible for many forms of growth and development (cell divisions) changes may cause cancers. one example would be acute myeloid leukemia (aml). genes number of genes the following are some of the gene count estimates of human chromosome 5. 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. estimated by protein-coding genes non-coding rna genes pseudogenes source release date ccds839—— 2016-09-08 hgnc790355574 2017-05-12 ensembl8821,207707 2017-03-29 uniprot875—— 2018-02-28 ncbi886981785 2017-05-19 gene list the following is a partial list of genes on human chromosome 5. for complete list, see the link in the infobox on the right. ablim3: encoding protein actin-binding lim protein 3 adamts2: adam metallopeptidase with thrombospondin type 1 motif, 2 agxt2: alanine-glyoxylate aminotransferase 2 ankrd31: encoding protein ankyrin repeat domain 31 apbb3: encoding protein amyloid beta a4 precursor protein-binding family b member 3 apc: adenomatosis polyposis coli arl15: encoding protein adp-ribosylation factor-like 15 brix1: ribosome biogenesis protein brx1 homolog (also bxdc2) c1qtnf3: complement c1q tumor necrosis factor-related protein 3 c5orf45: chromosome 5 open reading frame 45 c5orf47: encoding protein chromosome 5 open reading frame 47 c5orf49: encoding protein chromosome 5 open reading frame 49 cast: calpastatin cdo1: encoding protein cysteine dioxygenase type 1 cplane1: ciliogenesis and planar polarity effector 1 cplx2: complexin-2 crebrf: encoding protein creb3 regulatory factor cxxc5: cxxc-type zing finger protein 5 dpysl3: dihydropyrimidinase-like protein 3 egr1: early growth response protein 1 erap1: endoplasmic reticulum aminopeptidase 1 (previously called arts-1) erap2: endoplasmic reticulum aminopeptidase 2 esm1: endothelial cell-specific molecule 1 dtdst: diastrophic dysplasia sulfate transporter eif4e1b: encoding protein eukaryotic translation initiation factor 4e family member 1b ercc8: excision repair cross-complementing rodent repair deficiency, complementation group 8 faf2: encoding protein fas associated factor family member 2 fam172a: encoding protein upf0528 protein fam172a fam105b: encoding protein family with sequence similarity 105, member b fam114a2: encoding protein fam114a2 fam71b: encoding protein family with sequence similarity 71 member b fastkd3: fast kinase domain-containing protein 3 fbxl7: f-box/lrr-repeat protein 7 fchsd1: fch and double sh3 domain protein 1 fgf1: fibroblast growth factor 1 (acidic fibroblast growth factor) fgfr4: fibroblast growth factor receptor 4 gm2a: gm2 ganglioside activator gnpda1: glucosamine-6-phosphate isomerase 1 gpbp1: vasculin hexb: hexosaminidase b (beta polypeptide) hmgxb3: encoding protein hmg-box containing 3 ik: protein red irx1: iroquois-class homeodomain protein (human) larp1: la-related protein 1 lman2: lectin mannose binding 2 lncr3 encoding protein lung cancer susceptibility 3 lpcat1: lysophosphatidylcholine acyltransferase 1 lyrm7: encoding protein lyr motif containing 7 lysmd3: lysm and putative peptidoglycan-binding domain-containing protein 3 man2a1: alpha-mannosidase 2 mass1: monogenic, audiogenic seizure susceptibility 1 homolog (mouse) mcc: colorectal mutant cancer protein mccc2: methylcrotonoyl-coenzyme a carboxylase 2 (beta) mcef: transcription factor af4/fmr2 family, member 4 mef2c: myocyte-specific enhancer factor 2c mef2c-as1: encoding protein mef2c antisense rna 1 mgat1: mannosyl (alpha-1,3-)-glycoprotein beta-1,2-n-acetylglucosaminyltransferase minar2: encoding protein kiaa1024 like mir1271: encoding microrna 1271 mir146a: microrna 146a mtrr: 5-methyltetrahydrofolate-homocysteine methyltransferase reductase mzb1: marginal zone b and b1 cell-specific protein nipbl: nipped-b homolog (drosophila) nrep: neuronal regeneration related protein nsa2 encoding protein tgf beta-inducible nuclear protein 1 nsd1: transcription coregulator protein nsun2: nop2/sun domain family, member 2 nr2f1: nuclear hormone receptor nsg2: encoding protein hmp19 protein nudcd2: nudc domain-containing protein 2 p4ha2: prolyl 4-hydroxylase subunit alpha-2 pcbd2: pterin-4-alpha-carbinolamine dehydratase 2 pelo: pelota homolog pggt1b: encoding protein protein geranylgeranyltransferase type i subunit beta phax: phosphorylated adapter for rna export pikachurin: responsible for the functioning of the ribbon synapses; allows the eye to track moving objects pfdn1: prefoldin subunit 1 polr3g: encoding protein polymerase (rna) iii (dna directed) polypeptide g (32kd) ppip5k2: diphosphoinositol pentakisphosphate kinase 2 prcc1: proline-rich coiled coil 1 prr16: encoding protein proline-rich protein 16 pura: purine-rich element-binding protein a pwwp2a: encoding protein pwwp domain containing 2a ranbp3l: encoding protein ran binding protein 3-like rasgef1c: encoding protein rasgef domain family member 1c rmnd5b: required for meiotic nuclear division 5 homolog b sfxn1: sideroflexin-1 skiv2l2: ski2 like rna helicase 2 slc22a5: solute carrier family 22 (organic cation transporter), member 5 slc26a2: solute carrier family 26 (sulfate transporter), member 2 sh3tc2: domain and tetratricopeptide repeats 2 slco4c1: solute carrier organic anion transporter family member 4c1 slu7: pre-mrna-splicing factor slu7 smn1: survival motor neuron 1, telomeric smn2: survival motor neuron 2, centromeric sncaip: synuclein, alpha interacting protein (synphilin) spef2: sperm flagellar protein 2 spink5: serine protease inhibitor kazal-type 5 (lekti) spink6: serine protease inhibitor kazal-type 6 spink9: serine protease inhibitor kazal-type 9 (lekti-2) spz1: spermatogenic leucine zipper protein 1 stc2: stanniocalcin-2 tbca: tubulin-specific chaperone a tcof1: treacher collins-franceschetti syndrome 1 tgfbi: keratoepithelin thg1l: probable trna(his) guanylyltransferase ticam2: tir domain-containing adapter molecule 2 tmem171: encoding protein transmembrane protein 171 tnfaip8: tumor necrosis factor, alpha-induced protein 8 tssk1b: encoding protein testis specific serine kinase 1b ttc37: tetratricopeptide repeat domain 37 upf0488: encodes g protein-coupled receptor protein signaling pathway yipf5: yip1 domain family member 5 ythdc2: encoding protein yth domain containing 2 zbed3: zinc finger bed domain-containing protein 3 znf608: encoding protein zinc finger protein 608 diseases and disorders the following are some of the diseases related to genes located on chromosome 5: achondrogenesis type 1b atelosteogenesis, type ii bosch-boonstra-schaaf optic atrophy syndrome charcot–marie–tooth disease, type 4 cockayne syndrome cornelia de lange syndrome corneal dystrophy of bowman layer cri du chat diastrophic dysplasia ehlers-danlos syndrome familial adenomatous polyposis granular corneal dystrophy type i granular corneal dystrophy type ii gm2-gangliosidosis, ab variant homocystinuria 3-methylcrotonyl-coa carboxylase deficiency myelodysplastic syndrome netherton syndrome nicotine dependency parkinson's disease primary carnitine deficiency recessive multiple epiphyseal dysplasia sandhoff disease spinal muscular atrophy sotos syndrome survival motor neuron spinal muscular atrophy treacher collins syndrome tricho-hepato-enteric syndrome usher syndrome chromosomal conditions the following conditions are caused by changes in the structure or number of copies of chromosome 5: cri-du-chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. this chromosomal change is written as 5p-. the signs and symptoms of cri-du-chat syndrome are probably related to the loss of multiple genes in this region. researchers have not identified all of these genes or determined how their loss leads to the features of the disorder. they have discovered, however, that a larger deletion tends to result in more severe mental retardation and developmental delays in people with cri-du-chat syndrome. researchers have defined narrow regions of the short arm of chromosome 5 that are associated with particular features of cri-du-chat syndrome. a specific region designated 5p15.3 is associated with a cat-like cry, and a nearby region called 5p15.2 is associated with mental retardation, small head (microcephaly), and distinctive facial features. familial adenomatous polyposis is caused by a deletion of the apc tumor suppressor gene on the long (q) arm of chromosome 5. this chromosomal change results in thousands of colonic polyps which gives the patient a 100% risk of colon cancer if total colectomy is not done. chromosome 5q deletion syndrome is caused by the deletion of the q arm (long arm) of chromosome 5. this deletion has been linked to several blood related disorders including myelodysplastic syndrome and erythroblastopenia. this is a different condition than cri-du-chat which was mentioned above. other changes in the number or structure of chromosome 5 can have a variety of effects, including delayed growth and development, distinctive facial features, birth defects, and other medical problems. changes to chromosome 5 include an extra segment of the short (p) or long (q) arm of the chromosome in each cell (partial trisomy 5p or 5q), a missing segment of the long arm of the chromosome in each cell (partial monosomy 5q), and a circular structure called ring chromosome 5. a ring chromosome occurs when both ends of a broken chromosome are reunited. cytogenetic band g-banding ideograms of human chromosome 5g-banding ideogram of human chromosome 5 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 5 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 5 in resolution 850 bphs chr. arm band iscnstart iscnstop basepairstart basepairstop stain density 5p 15.33027814,400,000 gneg 5p 15.322784014,400,0016,300,000 gpos25 5p 15.314015556,300,0019,900,000 gneg 5p 15.25558029,900,00115,000,000 gpos50 5p 15.180297215,000,00118,400,000 gneg 5p 14.3972123418,400,00123,300,000 gpos100 5p 14.21234128123,300,00124,600,000 gneg 5p 14.11281154324,600,00128,900,000 gpos100 5p 13.31543183628,900,00133,800,000 gneg 5p 13.21836206833,800,00138,400,000 gpos25 5p 13.12068225338,400,00142,500,000 gneg 5p 122253240742,500,00146,100,000 gpos50 5p 112407259246,100,00148,800,000 acen 5q 11.12592283948,800,00151,400,000 acen 5q 11.22839327151,400,00159,600,000 gneg 5q 12.13271351859,600,00163,600,000 gpos75 5q 12.23518358063,600,00163,900,000 gneg 5q 12.33580376563,900,00167,400,000 gpos75 5q 13.13765401267,400,00169,100,000 gneg 5q 13.24012419769,100,00174,000,000 gpos50 5q 13.34197439774,000,00177,600,000 gneg 5q 14.14397475277,600,00182,100,000 gpos50 5q 14.24752490782,100,00183,500,000 gneg 5q 14.34907540083,500,00193,000,000 gpos100 5q 155400567893,000,00198,900,000 gneg 5q 21.15678587998,900,001103,400,000 gpos100 5q 21.258795987103,400,001105,100,000 gneg 5q 21.359876295105,100,001110,200,000 gpos100 5q 22.162956419110,200,001112,200,000 gneg 5q 22.264196527112,200,001113,800,000 gpos50 5q 22.365276666113,800,001115,900,000 gneg 5q 23.166666943115,900,001122,100,000 gpos100 5q 23.269437267122,100,001127,900,000 gneg 5q 23.372677468127,900,001131,200,000 gpos100 5q 31.174687807131,200,001136,900,000 gneg 5q 31.278078008136,900,001140,100,000 gpos25 5q 31.380088316140,100,001145,100,000 gneg 5q 3283168625145,100,001150,400,000 gpos75 5q 33.186258887150,400,001153,300,000 gneg 5q 33.288879072153,300,001156,300,000 gpos50 5q 33.390729304156,300,001160,500,000 gneg 5q 3493049690160,500,001169,000,000 gpos100 5q 35.196909952169,000,001173,300,000 gneg 5q 35.2995210183173,300,001177,100,000 gpos25 5q 35.31018310600177,100,001181,538,259 gneg