Chromosome 14

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.

Gene list

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
• LYSET: lysosomal enzyme trafficking factor
• 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
• 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 syndrome
• 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

References

References

1. (2 April 2010). "Human Molecular Genetics". Garland Science.
2. Genome Decoration Page, NCBI. [https://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_850_V1 Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3)]. Last update 2014-06-03. Retrieved 2017-04-26.
3. Pertea M, Salzberg SL. (2010). "Between a chicken and a grape: estimating the number of human genes.". Genome Biol.
4. (2016-09-08). "Search results - 14[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene".
5. (2017-05-12). "Statistics & Downloads for chromosome 14".
6. (2017-03-29). "Chromosome 14: Chromosome summary - Homo sapiens".
7. (2018-02-28). "Human chromosome 14: entries, gene names and cross-references to MIM".
8. (2017-05-19). "Search results - 14[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene".
9. (2017-05-19). "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".
10. (2017-05-19). "Search results - 14[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene".
11. (June 2011). "Concerted regulation of myofiber-specific gene expression and muscle performance by the transcriptional repressor Sox6". Proc. Natl. Acad. Sci. U.S.A..
12. Genome Decoration Page, NCBI. [https://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_400_V1 Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3)]. Last update 2014-03-04. Retrieved 2017-04-26.
13. Genome Decoration Page, NCBI. [https://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_550_V1 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.
15. (2012). "2012 Ninth International Conference on Computer Science and Software Engineering (JCSSE)".
16. Genome Decoration Page, NCBI. [https://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_850_V1 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 (genetics). 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 [[GC-content. AT-rich]] and gene poor; '''gneg''': Region which is negatively stained by G banding, generally [[GC-content. CG-rich]] and gene rich; '''acen''' [[Centromere]]. '''var''': Variable region; '''stalk''': Stalk.