Chromosome 14

Chromosome 14
Human chromosome 14 pair after G-banding. One is from mother, one is from father.
Chromosome 14 pair in human male karyogram.
Features
Length (bp)	101,161,492 bp (CHM13)
No. of genes	583 (CCDS) [1]
Type	Autosome
Centromere position	Acrocentric [2] (17.2 Mbp [3] )
Complete gene lists
CCDS	Gene list
HGNC	Gene list
UniProt	Gene list
NCBI	Gene list
External map viewers
Ensembl	Chromosome 14
Entrez	Chromosome 14
NCBI	Chromosome 14
UCSC	Chromosome 14
Full DNA sequences
RefSeq	NC_000014 (FASTA)
GenBank	CM000676 (FASTA)

Chromosome 14 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 14 spans about 107 million base pairs (the building material of DNA) and represents between 3 and 3.5% of the total DNA in cells.

The centromere of chromosome 14 is positioned approximately at position 17.2 Mbp.

Genes

Number of genes

The following are some of the gene count estimates of human chromosome 14. 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]

Estimated by	Protein-coding genes	Non-coding RNA genes	Pseudogenes	Source	Release date
CCDS	583	—	—	[1]	2016-09-08
HGNC	593	324	513	[5]	2017-05-12
Ensembl	820	856	518	[6]	2017-03-29
UniProt	720	—	—	[7]	2018-02-28
NCBI	621	690	598	[8] [9] [10]	2017-05-19

Gene list

See also: Category:Genes on human chromosome 14

The following is a partial list of genes on human chromosome 14. For complete list, see the link in the infobox on the right.

• ACIN1: encoding protein Apoptotic chromatin condensation inducer in the nucleus
• AHNAK2: encoding protein Ahnak nucleoprotein 2
• ATXN3: Ataxin-3 (Machado-Joseph disease)
• BCL2L2: encoding the anti-apoptotic protein Bcl-w of the Bcl-2 family
• C14orf80: encoding protein C14orf80
• C14orf93: encoding protein C14orf93
• CCDC176: encoding protein Basal body-orientation factor 1
• CCDC88C: encoding protein Coiled-coil domain containing 88C
• CDC42BPB: encoding protein CDC42 binding protein kinase beta
• CDKL1: encoding protein Cyclin dependent kinase like 1
• CHMP4A: Charged multivesicular body protein 4a
• CIDEB: Cell death-inducing DFFA-like effector b
• CLBA1: encoding protein CLBA1
• CMA1: encoding enzyme Chymase
• CNIH: encoding protein Protein cornichon homolog
• COCH: coagulation factor C homolog, cochlin (Limulus polyphemus)
• CRIP2: Cysteine-rich protein 2
• DDX24: encoding enzyme ATP-dependent RNA helicase DDX24
• DEGS2: encoding protein Delta(4)-desaturase, sphingolipid 2
• DLGAP5: Disks large-associated protein 5
• DGLUCY: encoding protein DGLUCY, mitochondrial
• EAPP: E2F-associated phosphoprotein
• EGLN3: Egl nine homolog 3
• ENTPD5: Ectonucleoside triphosphate diphosphohydrolase 5
• ERG28: encoding protein Probable ergosterol biosynthetic protein 28
• Fam158a: encoding protein UPF0172 protein FAM158A
• FAM181A: encoding protein Family with sequence similarity 181, member A
• FAM71D: Family With Sequence Similarity 71, Member D
• FCF1: rRNA-processing protein FCF1 homolog
• FSCB: encoding protein Fibrous sheath CABYR binding protein
• GALC: galactosylceramidase (Krabbe disease)
• GARNL1: GTPase-activating Rap/Ran-GAP domain-like 1
• GCH1: GTP cyclohydrolase 1 (dopa-responsive dystonia)
• GPHB5: Glycoprotein hormone beta-5
• GSKIP encoding protein GSK3B interacting protein
• HHIPL1: encoding protein HHIP-like protein 1
• IFI27: encoding protein Interferon alpha-inducible protein 27
• IFT43: intraflagellar transport 43
• IGH@: immunoglobulin heavy chain locus
• IRF2BPL: encoding protein Interferon regulatory factor 2 binding protein like
• ITPK1: encoding enzyme Inositol-tetrakisphosphate 1-kinase
• JKAMP: encoding protein JNK1-associated membrane protein
• JPH4: encoding protein Junctophilin 4
• LINC00520: a long non-coding RNA
• LINC00637: encoding protein Long intergenic non-protein coding RNA 637
• MAPK1IP1L: encoding protein MAPK-interacting and spindle-stabilizing protein-like
• MIA2: encoding protein Melanoma inhibitory activity protein 2
• MIR494 encoding protein MicroRNA 494
• MIR495: encoding protein MicroRNA 495
• MIR3173: encoding protein MicroRNA 3173
• MIS18BP1: encoding protein MIS18 binding protein 1
• MOAP1: encoding protein Modulator of apoptosis 1
• MYH7: myosin heavy chain beta (MHC-β) isoform ^[11]
• NEMF (gene): encoding protein Nuclear export mediator factor
• NPC2: Niemann-Pick disease, type C2
• NUBPL: encoding protein Iron-sulfur protein NUBPL (IND1)
• OSGEP: encoding enzyme Probable O-sialoglycoprotein endopeptidase
• PAPOLA: encoding enzyme Poly(A) polymerase alpha
• PCNX: encoding protein Pecanex-like protein 1
• PELI2: encoding protein Protein pellino homolog 2
• PLEKHG3: encoding protein Pleckstrin homology and rhogef domain containing g3
• PSEN1: presenilin 1 (Alzheimer disease 3)
• RIOX1: encoding protein RIOX1
• RTRAF: encoding protein RTRAF
• RPL10L: encoding protein 60S ribosomal protein L10-like
• SERPINA1: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
• SERPINA3: encoding protein alpha-1-antichymotrypsin (ACT)
• SERPINA12: encoding protein SERPIN A12
• SIX6OS1: encoding protein SIX6OS1
• SGPP1: encoding enzyme Sphingosine-1-phosphate phosphatase 1
• SNORD9: encoding protein Small nucleolar rna, c/d box 9
• SYNE3: encoding protein Spectrin repeat containing nuclear envelope family member
• TC2N: encoding protein Tandem C2 domains nuclear protein
• TCL1B: encoding protein T-cell leukemia/lymphoma protein 1B
• TIMM9: encoding enzyme Mitochondrial import inner membrane translocase subunit Tim9
• TMED10: encoding protein Transmembrane emp24 domain-containing protein 10
• TMEM260: encoding protein TMEM260
• TRAJ56: encoding protein T cell receptor alpha joining 56
• TRAV12-2: encoding protein T cell receptor alpha variable 12-2
• TSHR: thyroid stimulating hormone receptor
• TUNAR: a long non-coding RNA
• VASH1: encoding protein Vasohibin-1
• VIPAS39: encoding protein VIPAS39
• WARS: encoding enzyme Tryptophanyl-tRNA synthetase, cytoplasmic
• YLPM1: encoding protein YLP motif-containing protein 1
• ZBTB1: encoding protein Zinc finger and BTB domain containing 1
• ZFHX2: encoding protein Zinc finger homeobox 2
• ZNF839: encoding protein Zinc finger protein 839

Diseases and disorders

The following diseases are some of those related to genes on chromosome 14:

• Alpha-1 antitrypsin deficiency
• Alzheimer disease
• Burkitt's lymphoma (t8;14)
• congenital hypothyroidism
• dopamine-responsive dystonia
• Follicular lymphoma (t14;18)
• FOXG1-Related Disorder
• Hypertrophic cardiomyopathy
• Krabbe disease
• Cranio-lenticulo-sutural dysplasia
• Machado-Joseph disease
• Mosaic monosomy 14
• Multiple myeloma
• Niemann-Pick disease
• Nonsyndromic deafness
• Sensenbrenner syndrome
• Tetrahydrobiopterin deficiency
• Kagami-Ogata Syndrome
• Temple Syndrome
• Oculopharyngeal muscular dystrophy

Cytogenetic band

G-banding ideograms of human chromosome 14

G-banding ideogram of human chromosome 14 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 14 in three different resolutions (400, ^[12] 550 ^[13] and 850 ^[3] ). Band length in this diagram is based on the ideograms from ISCN (2013). ^[14] This type of ideogram represents actual relative band length observed under a microscope at the different moments during the mitotic process. ^[15]

G-bands of human chromosome 14 in resolution 850 bphs ^[16]

Chr.	Arm [17]	Band [18]	ISCN start [19]	ISCN stop [19]	Basepair start	Basepair stop	Stain [20]	Density
14	p	13	0	284	1	3,600,000	gvar
14	p	12	284	624	3,600,001	8,000,000	stalk
14	p	11.2	624	1249	8,000,001	16,100,000	gvar
14	p	11.1	1249	1433	16,100,001	17,200,000	acen
14	q	11.1	1433	1660	17,200,001	18,200,000	acen
14	q	11.2	1660	2043	18,200,001	24,100,000	gneg
14	q	12	2043	2313	24,100,001	32,900,000	gpos	100
14	q	13.1	2313	2469	32,900,001	34,800,000	gneg
14	q	13.2	2469	2582	34,800,001	36,100,000	gpos	50
14	q	13.3	2582	2724	36,100,001	37,400,000	gneg
14	q	21.1	2724	2923	37,400,001	43,000,000	gpos	100
14	q	21.2	2923	3008	43,000,001	46,700,000	gneg
14	q	21.3	3008	3264	46,700,001	50,400,000	gpos	100
14	q	22.1	3264	3491	50,400,001	53,600,000	gneg
14	q	22.2	3491	3604	53,600,001	55,000,000	gpos	25
14	q	22.3	3604	3718	55,000,001	57,600,000	gneg
14	q	23.1	3718	3916	57,600,001	61,600,000	gpos	75
14	q	23.2	3916	4044	61,600,001	64,300,000	gneg
14	q	23.3	4044	4186	64,300,001	67,400,000	gpos	50
14	q	24.1	4186	4484	67,400,001	69,800,000	gneg
14	q	24.2	4484	4626	69,800,001	73,300,000	gpos	50
14	q	24.3	4626	4839	73,300,001	78,800,000	gneg
14	q	31.1	4839	5051	78,800,001	83,100,000	gpos	100
14	q	31.2	5051	5094	83,100,001	84,400,000	gneg
14	q	31.3	5094	5349	84,400,001	89,300,000	gpos	100
14	q	32.11	5349	5406	89,300,001	91,400,000	gneg
14	q	32.12	5406	5505	91,400,001	94,200,000	gpos	25
14	q	32.13	5505	5619	94,200,001	95,800,000	gneg
14	q	32.2	5619	5732	95,800,001	100,900,000	gpos	50
14	q	32.31	5732	5903	100,900,001	102,700,000	gneg
14	q	32.32	5903	6016	102,700,001	103,500,000	gpos	50
14	q	32.33	6016	6300	103,500,001	107,043,718	gneg

References

1. "Search results - 14[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. Garland Science. p. 45. ISBN   978-1-136-84407-2.
3. 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 14". HUGO Gene Nomenclature Committee. 2017-05-12. Retrieved 2017-05-19.
6. "Chromosome 14: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19.
7. "Human chromosome 14: entries, gene names and cross-references to MIM". UniProt. 2018-02-28. Retrieved 2018-03-16.
8. "Search results - 14[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20.
9. "Search results - 14[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.
10. "Search results - 14[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20.
11. Quiat D, Voelker KA, Pei J, Grishin NV, Grange RW, Bassel-Duby R, Olson EN (June 2011). "Concerted regulation of myofiber-specific gene expression and muscle performance by the transcriptional repressor Sox6". Proc. Natl. Acad. Sci. U.S.A. 108 (25): 10196–201. Bibcode:2011PNAS..10810196Q. doi: 10.1073/pnas.1107413108 . PMC   3121857 . PMID   21633012.
12. Genome Decoration Page, NCBI. Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3). Last update 2014-03-04. Retrieved 2017-04-26.
13. Genome Decoration Page, NCBI. Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3). Last update 2015-08-11. Retrieved 2017-04-26.
14. 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.
15. 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.
16. Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
17. "p": Short arm; "q": Long arm.
18. For cytogenetic banding nomenclature, see article locus.
19. 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.
20. 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.

• Campo E (2003). "Genetic and molecular genetic studies in the diagnosis of B-cell lymphomas I: mantle cell lymphoma, follicular lymphoma, and Burkitt's lymphoma". Hum Pathol. 34 (4): 330–5. doi:10.1053/hupa.2003.97. PMID   12733111.
• Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 14". Genet Test. 3 (4): 379–91. doi:10.1089/gte.1999.3.379. PMID   10627948.
• Heilig R, Eckenberg R, Petit JL, Fonknechten N, Da Silva C, Cattolico L, Levy M, Barbe V, de Berardinis V, Ureta-Vidal A, Pelletier E, Vico V, Anthouard V, Rowen L, Madan A, Qin S, Sun H, Du H, Pepin K, Artiguenave F, Robert C, Cruaud C, Bruls T, Jaillon O, Friedlander L, Samson G, Brottier P, Cure S, Segurens B, Aniere F, Samain S, Crespeau H, Abbasi N, Aiach N, Boscus D, Dickhoff R, Dors M, Dubois I, Friedman C, Gouyvenoux M, James R, Madan A, Mairey-Estrada B, Mangenot S, Martins N, Menard M, Oztas S, Ratcliffe A, Shaffer T, Trask B, Vacherie B, Bellemere C, Belser C, Besnard-Gonnet M, Bartol-Mavel D, Boutard M, Briez-Silla S, Combette S, Dufosse-Laurent V, Ferron C, Lechaplais C, Louesse C, Muselet D, Magdelenat G, Pateau E, Petit E, Sirvain-Trukniewicz P, Trybou A, Vega-Czarny N, Bataille E, Bluet E, Bordelais I, Dubois M, Dumont C, Guerin T, Haffray S, Hammadi R, Muanga J, Pellouin V, Robert D, Wunderle E, Gauguet G, Roy A, Sainte-Marthe L, Verdier J, Verdier-Discala C, Hillier L, Fulton L, McPherson J, Matsuda F, Wilson R, Scarpelli C, Gyapay G, Wincker P, Saurin W, Quetier F, Waterston R, Hood L, Weissenbach J (2003). "The DNA sequence and analysis of human chromosome 14". Nature. 421 (6923): 601–7. Bibcode:2003Natur.421..601H. doi: 10.1038/nature01348 . PMID   12508121.
• Kamnasaran D, Cox DW (2002). "Current status of human chromosome 14". J Med Genet. 39 (2): 81–90. doi:10.1136/jmg.39.2.81. PMC   1735028 . PMID   11836355.
• Lemire EG, Cardwell S (1999). "Unusual phenotype in partial trisomy 14". Am J Med Genet. 87 (4): 294–6. doi: 10.1002/(SICI)1096-8628(19991203)87:4<294::AID-AJMG2>3.0.CO;2-S . PMID   10588832.
• van Karnebeek CD, Quik S, Sluijter S, Hulsbeek MM, Hoovers JM, Hennekam RC (2002). "Further delineation of the chromosome 14q terminal deletion syndrome". Am J Med Genet. 110 (1): 65–72. doi:10.1002/ajmg.10207. PMID   12116274.

External links

• National Institutes of Health. "Chromosome 14". Genetics Home Reference. Archived from the original on 2012-02-04. Retrieved 2017-05-06.
• "Chromosome 14". Human Genome Project Information Archive 1990–2003. Retrieved 2017-05-06.