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Chromosome 12

chromosome 12 deletion, chromosome 12 genes
Chromosome 12 is one of the 23 pairs of chromosomes in humans People normally have two copies of this chromosome Chromosome 12 spans about 133 million base pairs the building material of DNA and represents between 4 and 45 percent of the total DNA in cells

Chromosome 12 contains the Homeobox C gene cluster

Contents

  • 1 Genes
    • 11 Number of genes
    • 12 Gene list
  • 2 Diseases and disorders
  • 3 Cytogenetic band
  • 4 References
  • 5 External links

Genes

Number of genes

The following are some of the gene count estimates of human chromosome 12 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[5]

Estimated by Protein-coding genes Non-coding RNA genes Pseudogenes Source Release date
CCDS 988 - - [2] 2016-09-08
HGNC 995 318 545 [6] 2017-05-12
Ensembl 1,033 1,202 617 [7] 2017-03-29
UniProt 1,032 - - [8] 2018-02-28
NCBI 1,036 853 693 [9][10][11] 2017-05-19

Gene list

See also: Category:Genes on human chromosome 12

The following is a partial list of genes on human chromosome 12 For complete list, see the link in the infobox on the right

  • ACAD10: encoding protein Acyl-CoA dehydrogenase family, member 10
  • ACSS3: encoding protein Acyl-CoA synthetase short-chain family member 3
  • ACVRL1: activin A receptor type II-like 1f
  • APOF: encoding protein Apolipoprotein F
  • APOLD1: apolipoprotein L domain containing 1
  • ARL6IP4: encoding protein ADP-ribosylation-like factor 6 interacting protein 4
  • ARPC3: encoding protein Actin-related protein 2/3 complex subunit 3
  • Asun: encoding protein Protein asunder homolog Asun
  • ATG101: Autophagy-related protein 101
  • BCAT1: encoding protein Branched chain amino acid transaminase 1
  • C12orf42: encoding protein uncharacterised chromosome 12 open reading frame 42
  • C12orf43: encoding protein Uncharacterized
  • C12orf60: encoding protein Uncharacterized protein C12orf60
  • CALCOCO1: Calcium-binding and coiled-coil domain-containing protein 1
  • CBX5: chromobox homolog 5
  • CCDC53: Coiled-coil domain-containing protein 53
  • CKAP4: Cytoskeleton associated protein 4
  • CNOT2: encoding protein CCR4-NOT transcription complex subunit 2
  • CNPY2: encoding protein Canopy FGF signaling regulator 2
  • CCDC42B: encoding protein Coiled Coil Domain Containing protein 42B
  • COL2A1: collagen, type II, alpha 1 primary osteoarthritis, spondyloepiphyseal dysplasia, congenital
  • CRACR2A: encoding protein Calcium release activated channel regulator 2A
  • CSRP2: Cysteine and glycine-rich protein 2
  • DDX23: DEAD-box helicase 23
  • DDX47: DEAD-box helicase 47
  • DHH: Desert hedgehog protein
  • DPPA3: Developmental pluripotency-associated protein 3
  • DPY19L2: encoding protein Dpy-19-like 2 C elegans
  • E2F7: E2F transcription factor 7
  • EMP1: Epithelial membrane protein 1
  • ERGIC2: encoding protein a protein of 377 amino acid residues
  • FAM60A: encoding protein FAM60A
  • FAM186B: encoding protein Protein FAM186B
  • GPD1: encoding protein Glycerol-3-phosphate dehydrogenase 1
  • GOLT1B: Golgi transport 1B
  • GPN3: encoding enzyme GPN-loop GTPase 3
  • HNF1A-AS1: encoding protein HNF1A antisense RNA 1
  • HPD: 4-hydroxyphenylpyruvate dioxygenase
  • IFFO1: encoding protein Intermediate filament family orphan 1
  • KANSL2: encoding protein KAT8 regulatory NSL complex subunit 2 KANSL2
  • KCNA1: potassium voltage-gated channel subfamily A member 1 at 12p1332
  • KDM2B: encoding protein Lysine K-specific demethylase 2B
  • KERA: keratocan
  • KRAS: V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
  • LARP4: encoding protein La-related protein 4
  • LEPREL2: encoding enzyme Prolyl 3-hydroxylase 3
  • LMBR1L: encoding protein Protein LMBR1L
  • LRRC23: encoding protein Leucine-rich repeat-containing protein 23
  • LRRIQ1: encoding protein Leucine-rich repeats and IQ motif containing 1
  • LRRK2: leucine-rich repeat kinase 2
  • MBOAT5: encoding enzyme Lysophospholipid acyltransferase 5
  • METTL1: encoding enzyme tRNA guanine-N7--methyltransferase
  • MFAP5: encoding protein Microfibrillar-associated protein 5
  • MIR196A2: encoding microRNA MicroRNA 196a-2
  • MMAB: methylmalonic aciduria cobalamin deficiency cblB type
  • MON2: encoding protein Protein MON2 homolog
  • MUCL1: encoding protein Mucin-like protein 1
  • MYO1A: myosin IA
  • NANOG: NK-2 type homeodomain gene
  • NAP1L1: encoding protein Nucleosome assembly protein 1-like 1
  • NRIP2: encoding protein Nuclear receptor-interacting protein 2
  • NUDT4: encoding enzyme Diphosphoinositol polyphosphate phosphohydrolase 2
  • PAH: phenylalanine hydroxylase
  • PIP4K2C: encoding protein Phosphatidylinositol-5-phosphate 4-kinase, type II, gamma
  • PIWIL1: encoding protein Piwi-like protein 1
  • POP5: encoding enzyme Ribonuclease P/MRP protein subunit POP5
  • PPHLN1: encoding protein Periphilin-1
  • PPP1R12A: protein phosphatase 1, regulatory inhibitor subungfdit 12A
  • PRB1: encoding protein Basic salivary proline-rich protein 1
  • PRB3: encoding protein Basic salivary proline-rich protein 3
  • PRB4: encoding protein Basic salivary proline-rich protein 4
  • PZP: encoding protein Pregnancy zone protein
  • PRH1: encoding protein Salivary acidic proline-rich phosphoprotein 1/2
  • PRH2: encoding protein Proline-rich protein HaeIII subfamily 2
  • PRR4: encoding protein Proline-rich protein 4
  • PTMS: encoding protein Parathymosin
  • PTPN11: protein tyrosine phosphatase, non-receptor type 11 Noonan syndrome 1
  • PUS1: encoding enzyme tRNA pseudouridine synthase A
  • PUS7L: encoding enzyme Pseudouridylate synthase 7 homolog-like protein
  • RAB3IP: encoding protein RAB3A-interacting protein
  • RASSF8: encoding protein Ras association domain-containing protein 8
  • RASSF9: encoding protein Ras association domain-containing protein 9
  • RERG: encoding protein RAS-like, estrogen-regulated, growth inhibitor
  • RNF34: encoding enzyme E3 ubiquitin-protein ligase RNF34
  • SARNP: SAP domain-containing ribonucleoprotein
  • Serpina3f: encoding protein Serine or cysteine peptidase inhibitor, clade A, member 3F
  • SLC8B1: solute carrier family 8 member B1
  • TBC1D15: encoding protein TBC1 domain family member 15
  • TBX3: encoding protein T-box transcription factor 3
  • TCHP: encoding protein Trichoplein keratin filament-binding protein
  • TESPA1: encoding protein Thymocyte expressed, positive selection associated 1
  • THAP2: encoding protein THAP domain-containing protein 2
  • TMTC1: encoding protein Transmembrane and tetratricopeptide repeat containing 1
  • TMEM117: encoding protein Transmembrane protein 117
  • TRAFD1: encoding protein TRAF-type zinc finger domain-containing protein 1
  • TSFM: encoding protein Elongation factor Ts, mitochondrial
  • TWF1: twinfilin-1
  • UNQ1887:
  • USP52: encoding enzyme PAB-dependent polyA-specific ribonuclease subunit 2
  • UTP20: encoding protein Small subunit processome component 20 homolog
  • VEZT: encoding protein Vezatin
  • YAF2: encoding protein YY1-associated factor 2
  • ZCCHC8: encoding protein Zinc finger CCHC domain-containing protein 8
  • ZFC3H1: encoding protein Zinc finger C3H1-type containing
  • ZNF26: encoding protein Zinc finger protein 26
  • ZNF84: encoding protein Zinc finger protein 84
  • ZNF268: encoding protein Zinc finger protein 268
  • ZNF664: encoding protein Zinc finger protein 664

Diseases and disorders

The following diseases are some of those related to genes on chromosome 12:

  • achondrogenesis type 2
  • collagenopathy, types II and XI
  • cornea plana 2
  • episodic ataxia
  • hereditary hemorrhagic telangiectasia
  • hypochondrogenesis
  • ichthyosis bullosa of Siemens
  • Kniest dysplasia
  • Kabuki syndrome
  • maturity onset diabetes of the young type 3
  • methylmalonic acidemia
  • narcolepsy
  • nonsyndromic deafness
  • Noonan syndrome
  • Parkinson disease
  • Pallister-Killian syndrome tetrasomy 12p
  • phenylketonuria
  • spondyloepimetaphyseal dysplasia, Strudwick type
  • spondyloepiphyseal dysplasia congenita
  • spondyloperipheral dysplasia
  • Stickler syndrome, COL2A1-related
  • Stuttering[12]
  • Triose Phosphate Isomerase deficiency
  • tyrosinemia
  • Von Willebrand Disease

Cytogenetic band

G-banding ideograms of human chromosome 12G-banding ideogram of human chromosome 12 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 eg Ensembl, UCSC Genome BrowserG-banding patterns of human chromosome 12 in three different resolutions 400,[13] 550[14] and 850[4] Band length in this diagram is based on the ideograms from ISCN 2013[15] This type of ideogram represents actual relative band length observed under a microscope at the different moments during the mitotic process[16] G-bands of human chromosome 12 in resolution 850 bphs[17]
Chr Arm[18] Band[19] ISCN
start[20]
ISCN
stop[20]
Basepair
start
Basepair
stop
Stain[21] Density
12 p 1333 0 216 7000100000000000000♠1 7006320000000000000♠3,200,000 gneg
12 p 1332 216 345 7006320000100000000♠3,200,001 7006530000000000000♠5,300,000 gpos 25
12 p 1331 345 633 7006530000100000000♠5,300,001 7007100000000000000♠10,000,000 gneg
12 p 132 633 806 7007100000010000000♠10,000,001 7007126000000000000♠12,600,000 gpos 75
12 p 131 806 921 7007126000010000000♠12,600,001 7007146000000000000♠14,600,000 gneg
12 p 123 921 1195 7007146000010000000♠14,600,001 7007198000000000000♠19,800,000 gpos 100
12 p 122 1195 1252 7007198000010000000♠19,800,001 7007211000000000000♠21,100,000 gneg
12 p 121 1252 1526 7007211000010000000♠21,100,001 7007263000000000000♠26,300,000 gpos 100
12 p 1123 1526 1655 7007263000010000000♠26,300,001 7007276000000000000♠27,600,000 gneg
12 p 1122 1655 1785 7007276000010000000♠27,600,001 7007305000000000000♠30,500,000 gpos 50
12 p 1121 1785 1900 7007305000010000000♠30,500,001 7007332000000000000♠33,200,000 gneg
12 p 111 1900 2015 7007332000010000000♠33,200,001 7007355000000000000♠35,500,000 acen
12 q 11 2015 2116 7007355000010000000♠35,500,001 7007378000000000000♠37,800,000 acen
12 q 12 2116 2562 7007378000010000000♠37,800,001 7007460000000000000♠46,000,000 gpos 100
12 q 1311 2562 2706 7007460000010000000♠46,000,001 7007487000000000000♠48,700,000 gneg
12 q 1312 2706 2850 7007487000010000000♠48,700,001 7007511000000000000♠51,100,000 gpos 25
12 q 1313 2850 3210 7007511000010000000♠51,100,001 7007545000000000000♠54,500,000 gneg
12 q 132 3210 3383 7007545000010000000♠54,500,001 7007562000000000000♠56,200,000 gpos 25
12 q 133 3383 3498 7007562000010000000♠56,200,001 7007577000000000000♠57,700,000 gneg
12 q 141 3498 3700 7007577000010000000♠57,700,001 7007627000000000000♠62,700,000 gpos 75
12 q 142 3700 3786 7007627000010000000♠62,700,001 7007647000000000000♠64,700,000 gneg
12 q 143 3786 3959 7007647000010000000♠64,700,001 7007673000000000000♠67,300,000 gpos 50
12 q 15 3959 4203 7007673000010000000♠67,300,001 7007711000000000000♠71,100,000 gneg
12 q 211 4203 4362 7007711000010000000♠71,100,001 7007753000000000000♠75,300,000 gpos 75
12 q 212 4362 4549 7007753000010000000♠75,300,001 7007799000000000000♠79,900,000 gneg
12 q 2131 4549 4837 7007799000010000000♠79,900,001 7007863000000000000♠86,300,000 gpos 100
12 q 2132 4837 4894 7007863000010000000♠86,300,001 7007886000000000000♠88,600,000 gneg
12 q 2133 4894 5125 7007886000010000000♠88,600,001 7007922000000000000♠92,200,000 gpos 100
12 q 22 5125 5355 7007922000010000000♠92,200,001 7007958000000000000♠95,800,000 gneg
12 q 231 5355 5571 7007958000010000000♠95,800,001 7008101200000000000♠101,200,000 gpos 75
12 q 232 5571 5643 7008101200001000000♠101,200,001 7008103500000000000♠103,500,000 gneg
12 q 233 5643 5873 7008103500001000000♠103,500,001 7008108600000000000♠108,600,000 gpos 50
12 q 2411 5873 6104 7008108600001000000♠108,600,001 7008111300000000000♠111,300,000 gneg
12 q 2412 6104 6219 7008111300001000000♠111,300,001 7008111900000000000♠111,900,000 gpos 25
12 q 2413 6219 6334 7008111900001000000♠111,900,001 7008113900000000000♠113,900,000 gneg
12 q 2421 6334 6478 7008113900001000000♠113,900,001 7008116400000000000♠116,400,000 gpos 50
12 q 2422 6478 6579 7008116400001000000♠116,400,001 7008117700000000000♠117,700,000 gneg
12 q 2423 6579 6737 7008117700001000000♠117,700,001 7008120300000000000♠120,300,000 gpos 50
12 q 2431 6737 7083 7008120300001000000♠120,300,001 7008125400000000000♠125,400,000 gneg
12 q 2432 7083 7255 7008125400001000000♠125,400,001 7008128700000000000♠128,700,000 gpos 50
12 q 2433 7255 7500 7008128700001000000♠128,700,001 7008133275309000000♠133,275,309 gneg

References

  1. ^ "Human Genome Assembly GRCh38 - Genome Reference Consortium" National Center for Biotechnology Information 2013-12-24 Retrieved 2017-03-04 
  2. ^ a b "Search results - 12[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 
  3. ^ Tom Strachan; Andrew Read 2 April 2010 Human Molecular Genetics Garland Science p 45 ISBN 978-1-136-84407-2 
  4. ^ a b Genome Decoration Page, NCBI Ideogram data for Homo sapience 850 bphs, Assembly GRCh38p3 Last update 2014-06-03 Retrieved 2017-04-26
  5. ^ Pertea M, Salzberg SL 2010 "Between a chicken and a grape: estimating the number of human genes" Genome Biol 11 5: 206 doi:101186/gb-2010-11-5-206 PMC 2898077  PMID 20441615 
  6. ^ "Statistics & Downloads for chromosome 12" HUGO Gene Nomenclature Committee 2017-05-12 Retrieved 2017-05-19 
  7. ^ "Chromosome 12: Chromosome summary - Homo sapiens" Ensembl Release 88 2017-03-29 Retrieved 2017-05-19 
  8. ^ "Human chromosome 12: entries, gene names and cross-references to MIM" UniProt 2018-02-28 Retrieved 2018-03-16 
  9. ^ "Search results - 12[CHR] AND "Homo sapiens"[Organism] AND "genetype protein coding"[Properties] AND alive[prop] - Gene" NCBI 2017-05-19 Retrieved 2017-05-20 
  10. ^ "Search results - 12[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 Retrieved 2017-05-20 
  11. ^ "Search results - 12[CHR] AND "Homo sapiens"[Organism] AND "genetype pseudo"[Properties] AND alive[prop] - Gene" NCBI 2017-05-19 Retrieved 2017-05-20 
  12. ^ Riaz N; Steinberg S; Ahmad J; et al April 2005 "Genomewide significant linkage to stuttering on chromosome 12" Am J Hum Genet 76 4: 647–51 doi:101086/429226 PMC 1199301  PMID 15714404 
  13. ^ Genome Decoration Page, NCBI Ideogram data for Homo sapience 400 bphs, Assembly GRCh38p3 Last update 2014-03-04 Retrieved 2017-04-26
  14. ^ Genome Decoration Page, NCBI Ideogram data for Homo sapience 550 bphs, Assembly GRCh38p3 Last update 2015-08-11 Retrieved 2017-04-26
  15. ^ 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 
  16. ^ Sethakulvichai, W; Manitpornsut, S; Wiboonrat, M; Lilakiatsakun, W; Assawamakin, A; Tongsima, S 2012 "Estimation of band level resolutions of human chromosome images" PDF In Computer Science and Software Engineering JCSSE, 2012 International Joint Conference on: 276–282 doi:101109/JCSSE20126261965 
  17. ^ Genome Decoration Page, NCBI Ideogram data for Homo sapience 850 bphs, Assembly GRCh38p3 Last update 2014-06-03 Retrieved 2017-04-26
  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; gneg: Region which is negatively stained by G banding, generally CG-rich and gene rich; acen Centromere var: Variable region; stalk: Stalk
  • Gilbert F, Kauff N 2000 "Disease genes and chromosomes: disease maps of the human genomeChromosome 12" Genet Test 4 3: 319–33 doi:101089/10906570050501588 PMID 11142767 
  • Montgomery KT, Lee E, Miller A, Lau S, Shim C, Decker J, Chiu D, Emerling S, Sekhon M, Kim R, Lenz J, Han J, Ioshikhes I, Renault B, Marondel I, Yoon SJ, Song K, Murty VV, Scherer S, Yonescu R, Kirsch IR, Ried T, McPherson J, Gibbs R, Kucherlapati R 2001 "A high-resolution map of human chromosome 12" Nature 409 6822: 945–6 doi:101038/35057174 PMID 11237017 

External links

  • National Institutes of Health "Chromosome 12" Genetics Home Reference Retrieved 2017-05-06 
  • "Chromosome 12" Human Genome Project Information Archive 1990–2003 Retrieved 2017-05-06 

chromosome 12, chromosome 12 abnormality, chromosome 12 and ashkenazi gene, chromosome 12 deletion, chromosome 12 disorder, chromosome 12 genes, chromosome 12 start position, chromosome 12 traits, chromosome 12 trisomy, chromosome 12p duplication syndrome


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