Human chromosome
Chromosome 3 is one of the 23 pairs ofchromosomes inhumans . People normally have two copies of this chromosome. Chromosome 3 spans more than 201 millionbase pairs (the building material ofDNA ) and represents about 6.5 percent of the total DNA incells .
The following are some of the gene count estimates of human chromosome 3. 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 3. 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 3:
ALAS1 : aminolevulinate, delta-, synthase 1APEH : encodingenzyme Acylamino-acid-releasing enzymeARPP-21 : Cyclic AMP-regulated phosphoprotein, 21 kDaAZI2 : encodingprotein 5-azacytidine-induced protein 2BRK1 : SCAR/WAVE actin nucleating complex subunitBRPF1 : bromodomain and PHD finger containing 1BTD : biotinidaseC3orf14-Chromosome 3 open reading frame 14 : predictedDNA binding protein .CFAP20DC : encoding protein Chromosome 3 open reading frame 67C3orf62 : chromosome 3 open reading frame 62CACNA2D3 : calcium channel, voltage-dependent, alpha 2/delta subunit 3CCR5 : chemokine (C-C motif) receptor 5CGGBP1 : CGG triplet repeat binding protein 1CMTM7 : CKLF like MARVEL transmembrane domain containing 7CNTN4 : Contactin 4COL7A1 :Collagen, type VII, alpha 1 (epidermolysis bullosa, dystrophic, dominant and recessive)CRBN : Cereblon protein[ 11] DCLK3 : Doublecortin like kinase 3DLEC1 : encoding protein Deleted in lung and esophageal cancer 1EAF1 : ELL associated factor 1ENTPD3 : ectonucleoside triphosphate diphosphohydrolase 3FAM107A : Family with sequence similarity 107 member AFAM19A1 : Family with sequence similarity 19 member A1, C-C motif chemokine likeFBXL2 : F-box and leucine rich repeat protein 2FOXP1 : Forkhead Box Protein P1FRA3A encodingprotein Fragile site, aphidicolin type, common, fra(3)(p24.2)FRMD4B encodingprotein FERM domain containing 4BGHRLOS : non-coding RNA ghrelin opposite strand (non-protein coding)GMPPB : GDP-mannose pyrophosphorylase BHACL1 : encoding protein 2-hydroxyacyl-CoA lyase 1HEMK1 : encodingprotein HemK methyltransferase family member 1HIGD1A : HIG1 domain family member 1AHSN1B : Hereditary sensory neuropathy, type ibHTD2 : encoding protein Hydroxyacyl-thioester dehydratase type 2LARS2 : leucyl-tRNA synthetase, mitochondrialLIMD1 : LIM domain-containing protein 1LOC105377021 : encoding protein LOC105377021LINC00312 : Long intergenic non-protein-coding RNA 312LZTFL1 : Leucine zipper transcription factor like 1MIR138-1 : encoding protein MicroRNA 138-1MIR425 : MicroRNA 425MIR885 : encoding protein MicroRNA 885MITF : microphthalmia-associated transcription factorMLH1 : mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)MYRIP : Myosin VIIA and Rab interacting proteinNBEAL2 : Neurobeachin-like 2NDUFAF3 : encodingenzyme NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3NKTR : NK-tumor recognition proteinNPRL2 : Nitrogen permease regulator 2-like proteinOXTR : oxytocin receptorPCAF : acetyltransferase activityPHF7 encodingprotein PHD finger protein 7PRICKLE2 : encoding protein Prickle planar cell polarity protein 2PTHR1 : parathyroid hormone receptor 1QRICH1 : encodingprotein QRICH1, also known as Glutamine-rich protein 1,RBM6 : RNA-binding protein 6RPP14 : Ribonuclease P protein subunit p14SCN5A :sodium channel , voltage-gated, type V, alpha (long QT syndrome 3)SETD5 : SET domain containing 5SFMBT1 : Scm-like with four mbt domains 1SLC25A20 : solute carrier family 25 (carnitine/acylcarnitine translocase), member 20STT3B : catalytic subunit of the oligosaccharyltransferase complexSYNPR : synaptoporinTAFA4 : encoding protein Family with sequence similarity 19 member A4, C-C motif chemokine likeTCAIM : encodingprotein T-cell activation inhibitor, mitochondrialTDGF1 : Teratocarcinoma-derived growth factor 1TMEM158 : Transmembrane protein 158TMIE : transmembrane inner earTRAK1 : trafficking kinesin-binding protein 1TRANK1 : encodingprotein Tetratricopeptide repeat and ankyrin repeat containing 1TTLL3 : encoding protein Tubulin tyrosine ligase-like family, member 3TUSC2 : tumor suppressor candidate 2UCN2 : Urocortin-2ULK4 : UNC-51 like kinase 4VGLL3 : vestigial-like family member 3VHL : von Hippel-Lindau tumor suppressorZMYND10 : zinc finger MYND-type containing 10ZNF197 : encoding protein Zinc finger protein 197ZNF502 : encodingprotein Zinc finger protein 502ZNF620 : encoding protein Zinc finger protein 620ZNF621 : encodingprotein Zinc finger protein 621ZNF717 : encoding protein Zinc finger protein 717Partial list of the genes located onq-arm (long arm) of human chromosome 3:
ADIPOQ : adiponectinAMOTL2 : encoding protein Angiomotin-like protein 2ARHGAP31 : Rho GRPase activating protein 31BCHE : butyrylcholinesteraseC3orf70 chromosome 3 open reading frame 70CAMPD1 :Camptodactyly CCDC80 : Coiled-coil domain containing protein 80CD200R1 : Cell surface glycoprotein CD200 receptor 1CHST13 : encoding protein Carbohydrate (chondroitin 4) sulfotransferase 13CLDND1 : Claudin domain containing 1CPN2 : Carboxypeptidase N subunit 2CPOX : coproporphyrinogen oxidase (coproporphyria, harderoporphyria)DPPA2 : Developmental pluripotency associated 2DTX3L : encoding protein Deltex e3 ubiquitin ligase 3lDZIP3 : encodingprotein DAZ interacting zinc finger protein 3EAF2 : ELL associated factor 2EFCC1 : EF-hand and coiled-coil domain containing 1ETM1 : Essential tremor 1ETV5 : ETS variant 5FAM3D : family with sequence similarity 3, member DFAM43A : family with sequence similarity 43 member AFAM162A : family with sequence similarity 162 member AFBXO40 : encoding protein F-box protein 40FILIP1L : encoding protein Filamin A interacting protein 1 likeGYG1 : Glycogenin-1HACD2 encodingprotein 3-hydroxyacyl-CoA dehydratase 2 HGD : homogentisate 1,2-dioxygenase (homogentisate oxidase)IFT122 : intraflagellar transport gene 122KIAA1257 : KIAA1257LINC01279 : encoding protein long intergenic non-protein coding RNA 1279LNCR5 : encoding protein lung cancer susceptibility 5LMLN : encodingprotein Leishmanolysin-like (metallopeptidase M8 family)LRRC15 : leucine rich repeat containing 15LSG1 : large subunit GTPase 1 homolog MB21D2 : encodingprotein Mab-21 domain containing 2MCCC1 : methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)MORC1 : encoding protein Morc family cw-type zinc finger 1MYLK : TelokinNEPRO : encoding protein Nucleolus and neural progenitor proteinNFKBIZ : NF-kappa-B inhibitor zetaOTOL1 : encoding glycoprotein OtolinPARP14 encodingprotein Poly(ADP-ribose) polymerase family member 14PCCB : propionyl Coenzyme A carboxylase, beta polypeptidePDCD10 : programmed cell death 10PIK3CA : phosphoinositide-3-kinase, catalytic, alpha polypeptidePISRT1 :long non-coding RNA PROSER1 : Proline and serine rich protein 1RAB7 : RAB7, member RAS oncogene familyRASA2 : encoding protein Ras p21 protein activator 2RETNLB : resistin-like betaRHO : rhodopsin visual pigmentRIOX2 : Ribosomal oxygenase 2SELT : Selenoprotein TSENP7 : Sentrin-specific protease 7SERP1 : Stress-associated endoplasmic reticulum protein 1SOX2 : transcription factorSOX2OT : SOX2 overlapping transcriptSPG14 encodingprotein Spastic paraplegia 14 (autosomal recessive)SRPRB : Signal recognition particle receptor subunit betaTEX55 : encoding protein Testis expressed 55TIMMDC1 : TIMMDC1TMEM44 : encoding protein Transmembrane protein 44TM4SF1 : Transmembrane 4 L6 family member 1TMPRSS7 : encoding protein Transmembrane serine protease 7TP63 : Tumor protein p63TRAT1 : T-cell receptor-associated transmembrane adapter 1USH3A : Usher syndrome 3AZBED2 : encodingprotein Zinc finger BED-type containing 2ZNF9 : zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)Diseases and disorders [ edit ] The following diseases and disorders are some of those related to genes on chromosome 3:
3-Methylcrotonyl-CoA carboxylase deficiency 3q29 microdeletion syndrome Acute myeloid leukemia (AML)Alkaptonuria Arrhythmogenic right ventricular dysplasia Atransferrinemia Autism Autosomal dominant optic atrophy ADOA plus syndrome Biotinidase deficiency Blepharophimosis, epicanthus inversus and ptosis type 1 Breast/colon/lung/pancreatic cancer Brugada syndrome Castillo fever Carnitine-acylcarnitine translocase deficiency Cataracts Cerebral cavernous malformation Charcot–Marie–Tooth disease, type 2 Charcot–Marie–Tooth disease Chromosome 3q duplication syndrome Coproporphyria A location on human chromosome 3 is associated withrespiratory failure and possibly with increased severity inCOVID-19 [ 12] [ 13] Dandy–Walker syndrome Deafness Diabetes Dystrophic epidermolysis bullosa Endplate acetylcholinesterase deficiency Essential tremors Ectrodactyly , Case 4Glaucoma , primary open angleGlycogen storage disease Hailey–Hailey disease Harderoporphyrinuria Heart block, progressive/nonprogressive Hereditary coproporphyria Hereditary nonpolyposis colorectal cancer HIV infection, susceptibility/resistance toHypobetalipoproteinemia, familial Hypothermia Leukoencephalopathy with vanishing white matter Long QT syndrome Lymphomas Malignant hyperthermia susceptibility Metaphyseal chondrodysplasia, Murk Jansen type Microcoria Möbius syndrome Moyamoya disease Mucopolysaccharidosis Muir–Torre family cancer syndrome Myotonic dystrophy Neuropathy, hereditary motor and sensory, Okinawa type Night blindness Nonsyndromic deafness Ovarian cancer Porphyria Propionic acidemia Protein S deficiency Pseudocholinesterase deficiency Pseudo-Zellweger syndrome Retinitis pigmentosa Romano–Ward syndrome Seckel syndrome Sensenbrenner syndrome Septo-optic dysplasia Short stature Spinocerebellar ataxia Sucrose intolerance T-cell leukemia translocation altered gene Usher syndrome von Hippel–Lindau syndrome Waardenburg syndrome Xeroderma pigmentosum, complementation group c G-banding ideograms of human chromosome 3
G-banding ideogram of human chromosome 3 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 3 in three different resolutions (400,
[ 14] 550
[ 15] and 850
[ 3] ). Band length in this diagram is based on the ideograms from ISCN (2013).
[ 16] This type of ideogram represents actual relative band length observed under a microscope at the different moments during the
mitotic process .
[ 17] G-bands of human chromosome 3 in resolution 850 bphs[ 3] Chr. Arm[ 18] Band[ 19] ISCN[ 20] ISCN[ 20] Basepair Basepair Stain[ 21] Density 3 p 26.3 0 175 gpos 50 3 p 26.2 175 263 gneg 3 p 26.1 263 408 gpos 50 3 p 25.3 408 642 gneg 3 p 25.2 642 759 gpos 25 3 p 25.1 759 963 gneg 3 p 24.3 963 1269 gpos 100 3 p 24.2 1269 1357 gneg 3 p 24.1 1357 1561 gpos 75 3 p 23 1561 1751 gneg 3 p 22.3 1751 1926 gpos 50 3 p 22.2 1926 2013 gneg 3 p 22.1 2013 2188 gpos 75 3 p 21.33 2188 2451 gneg 3 p 21.32 2451 2626 gpos 50 3 p 21.31 2626 3239 gneg 3 p 21.2 3239 3385 gpos 25 3 p 21.1 3385 3676 gneg 3 p 14.3 3676 3910 gpos 50 3 p 14.2 3910 4143 gneg 3 p 14.1 4143 4362 gpos 50 3 p 13 4362 4566 gneg 3 p 12.3 4566 4814 gpos 75 3 p 12.2 4814 4946 gneg 3 p 12.1 4946 5077 gpos 75 3 p 11.2 5077 5135 gneg 3 p 11.1 5135 5266 acen 3 q 11.1 5266 5427 acen 3 q 11.2 5427 5602 gvar 3 q 12.1 5602 5762 gneg 3 q 12.2 5762 5850 gpos 25 3 q 12.3 5850 5996 gneg 3 q 13.11 5996 6229 gpos 75 3 q 13.12 6229 6361 gneg 3 q 13.13 6361 6594 gpos 50 3 q 13.2 6594 6682 gneg 3 q 13.31 6682 6871 gpos 75 3 q 13.32 6871 6973 gneg 3 q 13.33 6973 7148 gpos 75 3 q 21.1 7148 7294 gneg 3 q 21.2 7294 7440 gpos 25 3 q 21.3 7440 7674 gneg 3 q 22.1 7674 7936 gpos 25 3 q 22.2 7936 8053 gneg 3 q 22.3 8053 8228 gpos 25 3 q 23 8228 8461 gneg 3 q 24 8461 8811 gpos 100 3 q 25.1 8811 9001 gneg 3 q 25.2 9001 9162 gpos 50 3 q 25.31 9162 9264 gneg 3 q 25.32 9264 9366 gpos 50 3 q 25.33 9366 9453 gneg 3 q 26.1 9453 9803 gpos 100 3 q 26.2 9803 9949 gneg 3 q 26.31 9949 10183 gpos 75 3 q 26.32 10183 10329 gneg 3 q 26.33 10329 10489 gpos 75 3 q 27.1 10489 10620 gneg 3 q 27.2 10620 10737 gpos 25 3 q 27.3 10737 10883 gneg 3 q 28 10883 11175 gpos 75 3 q 29 11175 11700 gneg
^a b "Search results – 3[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 c 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 3" .HUGO Gene Nomenclature Committee . 2017-05-12. Archived fromthe original on 2017-06-29. Retrieved2017-05-19 .^ "Chromosome 3: Chromosome summary – Homo sapiens" .Ensembl Release 88 . 2017-03-29. Retrieved2017-05-19 .^ "Human chromosome 3: entries, gene names and cross-references to MIM" .UniProt . 2018-02-28. Retrieved2018-03-16 .^ "Search results – 3[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) – Gene" .NCBI . 2017-05-19. Retrieved2017-05-20 .^ "Search results – 3[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 – 3[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) – Gene" .NCBI . 2017-05-19. Retrieved2017-05-20 .^ CRBN cereblon [Homo sapiens (human)] - Gene - NCBI ^ "Scientists pinpoint genes common among people with severe coronavirus infections" .MSN ^ Severe Covid-19 GWAS Group; et al. (2020)."Genomewide Association Study of Severe Covid-19 with Respiratory Failure" .New England Journal of Medicine .383 (16):1522– 1534.doi :10.1056/NEJMoa2020283 .PMC 7315890 PMID 32558485 . {{cite journal }}: CS1 maint: numeric names: authors list (link )^ 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) . pp. 276– 282.doi :10.1109/JCSSE.2012.6261965 .ISBN 978-1-4673-1921-8 S2CID 16666470 . ^ "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.National Institutes of Health."Chromosome 3" .Genetics Home Reference . Archived fromthe original on 2010-04-08. Retrieved2017-05-06 . "Chromosome 3" .Human Genome Project Information Archive 1990–2003 . Retrieved2017-05-06 .
Basic Types Processes Structures
See also
