Chromosome 3 – Wikipedia

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Human chromosome

Chromosome 3 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 3 spans 201 million base pairs (the building material of DNA) and represents about 6.5 percent of the total DNA in cells.

Number of genes [ edit ]

The following are some of the gene count estimates of human chromosome 3. 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. [4]

List of genes [ edit ]

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The following is a partial list of genes on human chromosome 3. For complete list, see the link in the infobox on the right.

P-arm [ edit ]

Partial list of the genes located on p-arm (short arm) of human chromosome 3:

  • ALAS1: aminolevulinate, delta-, synthase 1
  • APEH: encoding enzyme Acylamino-acid-releasing enzyme
  • ARPP-21: Cyclic AMP-regulated phosphoprotein, 21 kDa
  • AZI2: encoding protein 5-azacytidine-induced protein 2
  • BRK1: SCAR/WAVE actin nucleating complex subunit
  • BRPF1: bromodomain and PHD finger containing 1
  • BTD: biotinidase
  • C3orf14-Chromosome 3 open reading frame 14: predicted DNA binding protein.
  • CFAP20DC: encoding protein Chromosome 3 open reading frame 67
  • C3orf62: chromosome 3 open reading frame 62
  • CACNA2D3: calcium channel, voltage-dependent, alpha 2/delta subunit 3
  • CCR5: chemokine (C-C motif) receptor 5
  • CGGBP1: CGG triplet repeat binding protein 1
  • CMTM7: CKLF like MARVEL transmembrane domain containing 7
  • CNTN4: Contact 4
  • Col7a1: Collasages, Type Vii, Alpha 1 (Epidertoysis Bullosa, Dystrophic, Drystraphic, Distressive and Recessive and Recessive and Recessive and Recessive)
  • CRBN: Cereblon protein [11]
  • DCLK3: Doublecortin like kinase 3
  • DLEC1: encoding protein Deleted in lung and esophageal cancer 1
  • EAF1: ELL associated factor 1
  • ENTPD3: ectonucleoside triphosphate diphosphohydrolase 3
  • FAM107A: Family with sequence similarity 107 member A
  • FAM19A1: Family with sequence similarity 19 member A1, C-C motif chemokine like
  • FBXL2: F-box and leucine rich repeat protein 2
  • FOXP1: Forkhead Box Protein P1
  • FRA3A encoding protein Fragile site, aphidicolin type, common, fra(3)(p24.2)
  • FRMD4B encoding protein FERM domain containing 4B
  • GHRLOS: non-coding RNA ghrelin opposite strand (non-protein coding)
  • GMPPB: GDP-mannose pyrophosphorylase B
  • HACL1: encoding protein 2-hydroxyacyl-CoA lyase 1
  • HEMK1: encoding protein HemK methyltransferase family member 1
  • HIGD1A: HIG1 domain family member 1A
  • HTD2: encoding protein Hydroxyacyl-thioester dehydratase type 2
  • LARS2: leucyl-tRNA synthetase, mitochondrial
  • LIMD1: LIM domain-containing protein 1
  • LOC105377021: encoding protein LOC105377021
  • LINC00312: Long intergenic non-protein-coding RNA 312
  • LZTFL1: Leucine zipper transcription factor like 1
  • MIR138-1: encoding protein MicroRNA 138-1
  • MIR885: encoding protein MicroRNA 885
  • MITF: microphthalmia-associated transcription factor
  • MLH1: mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
  • MYRIP: Myosin VIIA and Rab interacting protein
  • NBEAL2: Neurobeachin-like 2
  • NDUFAF3: encoding enzyme NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3
  • NKTR: NK-tumor recognition protein
  • NPRL2: Nitrogen permease regulator 2-like protein
  • OXTR: oxytocin receptor
  • PCAF: acetyltransferase activity
  • PHF7 encoding protein PHD finger protein 7
  • PRICKLE2: encoding protein Prickle planar cell polarity protein 2
  • PTHR1: parathyroid hormone receptor 1
  • QRICH1: encoding protein QRICH1, also known as Glutamine-rich protein 1,
  • RBM6: RNA-binding protein 6
  • RPP14: Ribonuclease P protein subunit p14
  • SCN5A: sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)
  • SETD5: SET domain containing 5
  • SFMBT1: Scm-like with four mbt domains 1
  • SLC25A20: solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
  • STT3B: catalytic subunit of the oligosaccharyltransferase complex
  • SYNPR: synaptoporin
  • TAFA4: encoding protein Family with sequence similarity 19 member A4, C-C motif chemokine like
  • TCAIM: encoding protein T-cell activation inhibitor, mitochondrial
  • TDGF1: Teratocarcinoma-derived growth factor 1
  • TMEM158: Transmembrane protein 158
  • TMIE: transmembrane inner ear
  • TRAK1: trafficking kinesin-binding protein 1
  • TRANK1: encoding protein Tetratricopeptide repeat and ankyrin repeat containing 1
  • TTLL3: encoding protein Tubulin tyrosine ligase-like family, member 3
  • TUSC2: tumor suppressor candidate 2
  • UCN2: Urocortin-2
  • ULK4: UNC-51 like kinase 4
  • VGLL3: vestigial-like family member 3
  • VHL: From Hippel-Lindau Tumor Suppressor
  • ZMYND10: zinc finger MYND-type containing 10
  • ZNF197: encoding protein Zinc finger protein 197
  • ZNF502: encoding protein Zinc finger protein 502
  • ZNF620: encoding protein Zinc finger protein 620
  • ZNF621: encoding protein Zinc finger protein 621
  • ZNF717: encoding protein Zinc finger protein 717

q-arm [ edit ]

Partial list of the genes located on q-arm (long arm) of human chromosome 3:

  • ADIPOQ: adiponectin
  • AMOTL2: encoding protein Angiomotin-like protein 2
  • ARHGAP31: Rho GRPase activating protein 31
  • TIMMDC1: TIMMDC1
  • C3orf70 chromosome 3 open reading frame 70
  • CAMPD1: Camptodactyly
  • CCDC80: Coiled-coil domain containing protein 80
  • CD200R1: Cell surface glycoprotein CD200 receptor 1
  • CHST13: encoding protein Carbohydrate (chondroitin 4) sulfotransferase 13
  • CLDND1: Claudin domain containing 1
  • CPN2: Carboxypeptidase N subunit 2
  • CPOX: coproporphyrinogen oxidase (coproporphyria, harderoporphyria)
  • DPPA2: Developmental pluripotency associated 2
  • DTX3L: encoding protein Deltex e3 ubiquitin ligase 3l
  • DZIP3: encoding protein DAZ interacting zinc finger protein 3
  • EAF2: ELL associated factor 2
  • EFCC1: EF-hand and coiled-coil domain containing 1
  • ETM1: Essential tremor 1
  • ETV5: You are variant 5
  • FAM3D: family with sequence similarity 3, member D
  • FAM43A: family with sequence similarity 43 member A
  • FAM162A: family with sequence similarity 162 member A
  • FBXO40: encoding protein F-box protein 40
  • FILIP1L: encoding protein Filamin A interacting protein 1 like
  • GYG1: Glycogenin-1
  • HACD2 encoding protein 3-hydroxyacyl-CoA dehydratase 2
  • HGD: homogentisate 1,2-dioxygenase (homogentisate oxidase)
  • IFT122: intraflagellar transport gene 122
  • Kiaa1257: kiaa1257
  • LINC01279: encoding protein long intergenic non-protein coding RNA 1279
  • LNCR5: encoding protein lung cancer susceptibility 5
  • LMLN: encoding protein Leishmanolysin-like (metallopeptidase M8 family)
  • LRRC15: leucine rich repeat containing 15
  • LSG1: large subunit GTPase 1 homolog
  • MB21D2: encoding protein Mab-21 domain containing 2
  • MCCC1: methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)
  • MORC1: encoding protein Morc family cw-type zinc finger 1
  • Myk: Telokin
  • NEPRO: encoding protein Nucleolus and neural progenitor protein
  • NFKBIZ: NF-kappa-B inhibitor zeta
  • OTOL1: encoding glycoprotein Otolin
  • PARP14 encoding protein Poly(ADP-ribose) polymerase family member 14
  • PCCB: propionyl Coenzyme A carboxylase, beta polypeptide
  • PDCD10: programmed cell death 10
  • PIK3CA: phosphoinositide-3-kinase, catalytic, alpha polypeptide
  • PISRT1: long non-coding RNA
  • PROSER1: Proline and serine rich protein 1
  • RAB7: RAB7, member RAS oncogene family
  • RASA2: encoding protein Ras p21 protein activator 2
  • RETNLB: resistin-like beta
  • RHO: rhodopsin visual pigment
  • RIOX2: Ribosomal oxygenase 2
  • Cell: Selenoprote
  • SENP7: Sentrin-specific protease 7
  • SERP1: Stress-associated endoplasmic reticulum protein 1
  • SOX2: transcription factor
  • SOX2OT: SOX2 overlapping transcript
  • SPG14 encoding protein Spastic paraplegia 14 (autosomal recessive)
  • SRPRB: Signal recognition particle receptor subunit beta
  • TEX55: encoding protein Testis expressed 55
  • TMEM44: encoding protein Transmembrane protein 44
  • TM4SF1: Transmembrane 4 L6 family member 1
  • TMPRSS7: encoding protein Transmembrane serine protease 7
  • TP63: Tumor protein p63
  • TRAT1: T-cell receptor-associated transmembrane adapter 1
  • Ush3a: Usher Syndrome 3A
  • ZBED2: encoding protein Zinc finger BED-type containing 2
  • ZNF9: 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 with respiratory failure and possibly with increased severity in COVID-19 [twelfth] [13]
  • Dandy–Walker syndrome
  • Deafness
  • Diabetes
  • Dystrophic EPIDERMolysis Bullosa
  • Endplate acetylcholinesterase deficiency
  • Essential tremors
  • Ectrodactyly, Case 4
  • Glaucoma, primary open angle
  • Glycogen storage disease
  • Hailey–Hailey disease
  • Harderoporphyrinuria
  • Heart block, progressive/nonprogressive
  • Hereditary coproporphyria
  • Hereditary nonpolyposis colorectal cancer
  • HIV infection, susceptibility/resistance to
  • Hypobetalipoproteinemia, familial
  • Hypothermia
  • Leukoencephalopathy with vanishing white matter
  • Long QT syndrome
  • Lymphomas
  • Malignant hyperthermia susceptibility
  • Metaphyseal chondrodysplasia, Murk Jansen type
  • Microcoria
  • Möbius Syndrome
  • Miyamoya 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
  • 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
  • From Hippel – Lindau Syndrome
  • Waardenburg Syndrome
  • Xeroderma pigmentosum, complementation group c

Cytogenetic band [ edit ]

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
start [20]
ISCN
stop [20]
Basepair
start
Basepair
stop
Stain [21] Density
3 p 26.3 0 175 first 2.800,000 gpos 50
3 p 26.2 175 263 2,800,001 4,000,000 crazy
3 p 26.1 263 408 4,000,001 8,100,000 gpos 50
3 p 25.3 408 642 8,100,001 11,600,000 crazy
3 p 25.2 642 759 11,600,001 13,200,000 gpos 25
3 p 25.1 759 963 13,200,001 16,300,000 crazy
3 p 24.3 963 1269 16,300,001 23,800,000 gpos 100
3 p 24.2 1269 1357 23,800,001 26,300,000 crazy
3 p 24.1 1357 1561 26,300,001 30,800,000 gpos 75
3 p 23 1561 1751 30,800,001 32,000,000 crazy
3 p 22.3 1751 1926 32,000,001 36,400,000 gpos 50
3 p 22.2 1926 two thousand and thirteen 36,400,001 39,300,000 crazy
3 p 22.1 two thousand and thirteen 2188 39,300,001 43,600,000 gpos 75
3 p 21.33 2188 2451 43,600,001 44,100,000 crazy
3 p 21.32 2451 2626 44,100,001 44,200,000 gpos 50
3 p 21.31 2626 3239 44,200,001 50,600,000 crazy
3 p 21.2 3239 3385 50,600,001 52,300,000 gpos 25
3 p 21.1 3385 3676 52,300,001 54,400,000 crazy
3 p 14.3 3676 3910 54,400,001 58,600,000 gpos 50
3 p 14.2 3910 4143 58,600,001 63,800,000 crazy
3 p 14.1 4143 4362 63,800,001 69,700,000 gpos 50
3 p 13 4362 4566 69,700,001 74,100,000 crazy
3 p 12.3 4566 4814 74,100,001 79,800,000 gpos 75
3 p 12.2 4814 4946 79,800,001 83,500,000 crazy
3 p 12.1 4946 5077 83,500,001 87,100,000 gpos 75
3 p 11.2 5077 5135 87,100,001 87,800,000 crazy
3 p 11.1 5135 5266 87,800,001 90,900,000 acid
3 q 11.1 5266 5427 90,900,001 94,000,000 acid
3 q 11.2 5427 5602 94,000,001 98,600,000 gvar
3 q 12.1 5602 5762 98,600,001 100,300,000 crazy
3 q 12.2 5762 5850 100,300,001 101,200,000 gpos 25
3 q 12.3 5850 5996 101,200,001 103,100,000 crazy
3 q 13.11 5996 6229 103,100,001 106,500,000 gpos 75
3 q 13.12 6229 6361 106,500,001 108,200,000 crazy
3 q 13.13 6361 6594 108,200,001 111,600,000 gpos 50
3 q 13.2 6594 6682 111,600,001 113,700,000 crazy
3 q 13.31 6682 6871 113,700,001 117,600,000 gpos 75
3 q 13.32 6871 6973 117,600,001 119,300,000 crazy
3 q 13.33 6973 7148 119,300,001 122,200,000 gpos 75
3 q 21.1 7148 7294 122,200,001 124,100,000 crazy
3 q 21.2 7294 7440 124,100,001 126,100,000 gpos 25
3 q 21.3 7440 7674 126,100,001 129,500,000 crazy
3 q 22.1 7674 7936 129,500,001 134,000,000 gpos 25
3 q 22.2 7936 8053 134,000,001 136,000,000 crazy
3 q 22.3 8053 8228 136,000,001 139,000,000 gpos 25
3 q 23 8228 8461 139,000,001 143,100,000 crazy
3 q 24 8461 8811 143,100,001 149,200,000 gpos 100
3 q 25.1 8811 9001 149,200,001 152,300,000 crazy
3 q 25.2 9001 9162 152,300,001 155,300,000 gpos 50
3 q 25.31 9162 9264 155,300,001 157,300,000 crazy
3 q 25.32 9264 9366 157,300,001 159,300,000 gpos 50
3 q 25.33 9366 9453 159,300,001 161,000,000 crazy
3 q 26.1 9453 9803 161,000,001 167,900,000 gpos 100
3 q 26.2 9803 9949 167,900,001 171,200,000 crazy
3 q 26.31 9949 10183 171,200,001 176,000,000 gpos 75
3 q 26.32 10183 10329 176,000,001 179,300,000 crazy
3 q 26.33 10329 10489 179,300,001 183,000,000 gpos 75
3 q 27.1 10489 10620 183,000,001 184,800,000 crazy
3 q 27.2 10620 10737 184,800,001 186,300,000 gpos 25
3 q 27.3 10737 10883 186,300,001 188,200,000 crazy
3 q 28 10883 11175 188,200,001 192,600,000 gpos 75
3 q 29 11175 11700 192,600,001 198,295,559 crazy

See also [ edit ]

References [ edit ]

  1. ^ a b “Search results – 3[CHR] AND “Homo sapiens”[Organism] AND (“has ccds”[Properties] AND alive[prop]) – Gene” . NCBI . CCDS Release 20 for Homo sapiens . 2016-09-08 . Retrieved 2017-05-28 .
  2. ^ Tom Strachan; Andrew Read (2 April 2010). Human Molecular Genetics . Garlands science. P. 45. ISBN 978-1-136-84407-2 .
  3. ^ 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.
  4. ^ 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 .
  5. ^ “Statistics & Downloads for chromosome 3” . HUGO Gene Nomenclature Committee . 2017-05-12 . Retrieved 2017-05-19-19 .
  6. ^ “Chromosome 3: Chromosome summary – Homo sapiens” . Ensembl Release 88 . 2017-03-29 . Retrieved 2017-05-19-19 .
  7. ^ “Human chromosome 3: entries, gene names and cross-references to MIM” . UniProt . 2018-02-28 . Retrieved 2018-03-16 .
  8. ^ “Search results – 3[CHR] AND “Homo sapiens”[Organism] AND (“genetype protein coding”[Properties] AND alive[prop]) – Gene” . NCBI . 2017-05-19-19 . Retrieved 2017-05-20 .
  9. ^ “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 . 2017-05-19-19 . Retrieved 2017-05-20 .
  10. ^ “Search results – 3[CHR] AND “Homo sapiens”[Organism] AND (“genetype pseudo”[Properties] AND alive[prop]) – Gene” . NCBI . 2017-05-19-19 . Retrieved 2017-05-20 .
  11. ^ CRBN cereblon [Homo sapiens (human)] – Gene – NCBI
  12. ^ “Scientists pinpoint genes common among people with severe coronavirus infections” . MSN .
  13. ^ 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 .
  14. ^ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3) . Last update 2014-03-04. Retrieved 2017-04-26.
  15. ^ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3) . Last update 2015-08-11. Retrieved 2017-04-26.
  16. ^ International Standing Committee on Human Cytogenetic Nomenclature (2013). ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013) . Karger Medical and Scientific Publishers. ISBN  978-3-318-02253-7 .
  17. ^ Sethakulvichai, w.; manitforut, S.; wiboonrat, M.; I lick, W.; your wives, a.; tongsima, S. (2012). “Estimation of band level resolutions of human chromosome images” . In Computer Science and Software Engineering (JCSSE), 2012 International Joint Conference on : 276–282. doi: 10.1109 / jcsse.2012.6261965 . ISBN  978-1-4673-1921-8-8 . S2CID  16666470 .
  18. ^ p “: Short arm; ” q “: Long arm.
  19. ^ For cytogenetic banding nomenclature, see article locus.
  20. ^ 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.
  21. ^ gpos : Region which is positively stained by G banding, generally AT-rich and gene poor; crazy : Region which is negatively stained by G banding, generally CG-rich and gene rich; acid Centromere. was : Variable region; stalk : Stalk.

External links [ edit ]

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