Chromosome 2 is one of the twenty-three pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 2 is the second-largest human chromosome, spanning more than 242 million base pairs and representing almost eight percent of the total DNA in human cells.
Human chromosome 2 pair after G banding. One is from mother, one is from father.
Chromosome 2 pair
in human male karyogram.
|Length (bp)||242,193,529 bp|
|No. of genes||1,194 (CCDS)|
|Complete gene lists|
|External map viewers|
|Full DNA sequences|
Humans have only twenty-three pairs of chromosomes, while all other extant members of Hominidae have twenty-four pairs. (It is believed that Neanderthals and Denisovans had twenty-three pairs.) Human chromosome 2 is a result of an end-to-end fusion of two ancestral chromosomes.
The evidence for this includes:
- The correspondence of chromosome 2 to two ape chromosomes. The closest human relative, the chimpanzee, has nearly identical DNA sequences to human chromosome 2, but they are found in two separate chromosomes. The same is true of the more distant gorilla and orangutan.
- The presence of a vestigial centromere. Normally a chromosome has just one centromere, but in chromosome 2 there are remnants of a second centromere in the q21.3–q22.1 region.
- The presence of vestigial telomeres. These are normally found only at the ends of a chromosome, but in chromosome 2 there are additional telomere sequences in the q13 band, far from either end of the chromosome.
|“||We conclude that the locus cloned in cosmids c8.1 and c29B is the relic of an ancient telomere-telomere fusion and marks the point at which two ancestral ape chromosomes fused to give rise to human chromosome 2.||”|
|— Jacob W. Ijdo|
Number of genes
The following are some of the gene count estimates of human chromosome 2. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome vary. 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.
|Estimated by||Protein-coding genes||Non-coding RNA genes||Pseudogenes||Source||Release date|
List of genes
The following is a partial list of genes on human chromosome 2. 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 2:
- ACTR2: encoding protein Actin-related protein 2
- ADI1: encoding enzyme 1,2-dihydroxy-3-keto-5-methylthiopentene dioxygenase
- AFF3: encoding protein AF4/FMR2 family member 3
- AFTPH: encoding protein Aftiphilin
- ABCG5 and ABCG8: ATP-binding cassette, subfamily A, members 5 and 8
- C2orf18: encoding protein Transmembrane protein C2orf18
- C2orf28: encoding protein Apoptosis-related protein 3
- CAPG: capping acting protein
- CCDC142: Coiled-Coil Domain Containing 142
- CTLA4: cytotoxic T-Lymphocyte Antigen 4
- DHX57: DExH-box helicase 57
- DPYSL5: Dihydropyrimidinase like 5
- ERLEC1: Endoplasmic reticulum lectin 1
- EVA1A: encoding protein Eva-1 homolog A (C. elegans)
- FAM49A: Family with sequence similarity 49 member A
- FAM98A: Family with sequence similarity 98 member A
- FAM136A: Family with sequence similarity 136 member A
- FBXO11: F-box protein 11
- GEN1 encoding protein GEN1, Holliday junction 5' flap endonuclease
- GFPT1: glutamine—fructose-6-phosphate transaminase 1
- GKN1: gastrokine 1
- GPATCH11: G-patch domain containing protein 11
- GTF2A1L: General transcription factor IIA subunit 1 like
- HADHA: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit
- HADHB: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit
- HSPC159: Galectin-related protein
- LEPQTL1: Leptin, serum levels of
- MEMO1: Mediator of cell motility 1
- MPHOSPH10: M-phase phosphoprotein 10
- MSH2: mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
- MSH6: mutS homolog 6 (E. coli)
- MTHFD2: Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial
- MTIF2: mitochondrial translational initiation factor 2
- NRBP1: Nuclear receptor-binding protein 1
- ODC1: Ornithine decarboxylase
- OTOF: otoferlin
- PARK3 encoding protein Parkinson disease 3 (autosomal dominant, Lewy body)
- PCYOX1: prenylcysteine oxidase 1
- PELI1: Ubiquitin ligase
- PLGLB2: Plasminogen-related protein B
- POLR1A: DNA-directed RNA polymerase I subunit RPA1
- PREPL: Prolyl endopeptidase-like
- PXDN: Peroxidasin homolog
- QPCT: Glutaminyl-peptide cyclotransferase
- RETSAT: All-trans-retinol 13,14-reductase
- SH3YL1: SH3 and SYLF domain-containing 1
- TGOLN2: Trans-Golgi network integral membrane protein 2
- THADA: encoding protein Thyroid adenoma associated
- TIA1: TIA1 cytotoxic granule-associated RNA binding protein
- TMEM150: Transmembrane protein 150A
- TP53I3: Putative quinone oxidoreducatse
- TPO: thyroid peroxidase
- TTC7A: familial multiple intestinal atresia
- WBP1: WW domain-binding protein 1
- WDR35 (IFT121: TULP4): intraflagellar transport 121
- C2orf16: unknown protein C2orf16
Partial list of the genes located on q-arm (long arm) of human chromosome 2:
- ABCA12: ATP-binding cassette, sub-family A (ABC1), member 12
- ACTR1B: encoding protein Beta-centractin
- AGXT: alanine-glyoxylate aminotransferase (oxalosis I; hyperoxaluria I; glycolicaciduria; serine-pyruvate aminotransferase)
- ALS2: amyotrophic lateral sclerosis 2 (juvenile)
- ALS2CR8: encoding protein Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 8 protein also known as calcium-response factor (CaRF)
- ARMC9: encoding protein LisH domain-containing protein ARMC9
- B3GNT7: encoding protein UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7
- BMPR2: bone morphogenetic protein receptor, type II (serine/threonine kinase)
- CCDC88A: Coiled-coil domain-containing protein 88A
- CCDC93: Coiled-coil domain-containing protein 93
- CCDC138: Coiled-coil domain-containing protein 138
- CDCA7: Cell division cycle associated protein 1
- CHPF: Chondroitin sulfate synthase 2
- COL3A1: collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)
- COL4A3: collagen, type IV, alpha 3 (Goodpasture antigen)
- COL4A4: collagen, type IV, alpha 4
- COL5A2: collagen, type V, alpha 2
- DIS3L2: DIS3 mitotic control homolog-like 2
- ECEL1: Endothelin converting enzyme like 1
- EPC2: Enhancer of polycomb homolog 2
- EPB41L5: encoding protein Erythrocyte membrane protein band 4.1 like 5
- ERICH2: encoding protein Glutamate rich protein 2
- FASTKD1: FAST kinase domain-containing protein 1
- IMP4: U3 small nucleolar ribonucleoprotein
- INPP1: Inositol polyphosphate 1-phosphatase
- INPP4A: inositol polyphosphate-4-phosphatase type A
- ITM2C: Integral membrane protein 2C
- KANSL3: KAT8 regulatory NSL complex subunit 3
- KIAA1211L: Uncharacterized Protein KIAA1211- Like
- LANCL1: LanC like 1
- MALL: MAL-like protein
- MGAT5: mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase
- NABP1: Nucleic acid binding protein 1
- NEURL3: encoding protein Neuralized E3 ubiquitin protein ligase 3
- NCL: Nucleolin
- NR4A2: nuclear receptor subfamily 4, group A, member 2
- OLA1: Obg-like ATPase 1
- PARD3B encoding protein Partitioning defective 3 homolog B
- PAX3: paired box gene 3 (Waardenburg syndrome 1)
- PAX8: paired box gene 8
- POLR1B: DNA-directed RNA polymerase I subunit RPA2
- PRR21: Proline-rich protein 21
- PRSS56: Putative serine protease 56
- RIF1: replication timing regulatory factor 1
- RNU4ATAC: RNA, U4atac small nuclear (U12-dependent splicing)
- RPL37A: encoding protein 60S ribosomal protein L37a
- SATB2: Homeobox 2
- SDPR: Serum deprivation-response protein
- SGOL2: Shugoshin-like 2
- SH3BP4: SH3 domain-binding protein 4
- SLC9A4: solute carrier family 9 member A4
- SLC40A1: solute carrier family 40 (iron-regulated transporter), member 1
- SMPD4: Sphingomyelin phosphodiesterase 4
- SP140: encoding protein SP140 nuclear body protein
- SPATS2L: spermatogenesis associated, serine-rich 2-like protein
- SSB: Sjogren syndrome antigen B
- SSFA2: Sperm-specific antigen 2
- TBR1: T-box, brain, 1
- THAP4: THAP domain-containing protein 4
- TMBIM1: Transmembrane BAX inhibitor motif-containing protein 1
- TNRC15: PERQ amino acid-rich with GYF domain-containing protein 2
- TSGA10 encoding protein Testis specific 10
- TTN: titin
- UBXD2: UBX domain-containing protein 4
- UXS1: UDP-glucuronic acid decarboxylase 1
- XIRP2: Xin actin-binding repeat-containing protein 2
- ZNF142: zinc finger protein 142
Related disorders and traits
The following diseases and traits are related to genes located on chromosome 2:
- 2p15-16.1 microdeletion syndrome
- Alport syndrome
- Alström syndrome
- Amyotrophic lateral sclerosis
- Congenital hypothyroidism
- Crigler-Najjar types I/II
- Dementia with Lewy bodies
- Ehlers–Danlos syndrome
- Ehlers–Danlos syndrome, classical type
- Ehlers–Danlos syndrome, vascular type
- Fibrodysplasia ossificans progressiva
- Gilbert's syndrome
- Harlequin type ichthyosis
- Hemochromatosis type 4
- Hereditary nonpolyposis colorectal cancer
- Infantile-onset ascending hereditary spastic paralysis
- Juvenile primary lateral sclerosis
- Lactose intolerance
- Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
- Maturity onset diabetes of the young type 6
- Mitochondrial trifunctional protein deficiency
- Nonsyndromic deafness
- Primary hyperoxaluria
- Primary pulmonary hypertension
- Sitosterolemia (knockout of either ABCG5 or ABCG8)
- Sensenbrenner syndrome
- Waardenburg syndrome
- "Human Genome Assembly GRCh38 - Genome Reference Consortium". National Center for Biotechnology Information. 24 December 2013. Retrieved 4 March 2017.
- "Search results - 2[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene". NCBI. CCDS Release 20 for Homo sapiens. 8 September 2016. Retrieved 28 May 2017.
- Tom Strachan; Andrew Read (2 April 2010). Human Molecular Genetics. Garland Science. p. 45. ISBN 978-1-136-84407-2.
- Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
- Hillier; et al. (2005). "Generation and annotation of the DNAD sequences of human chromosomes 2 and 4". Nature. 434 (7034): 724–31. Bibcode:2005Natur.434..724H. doi:10.1038/nature03466. PMID 15815621.
- Vega Homo sapiens genome browser: HoxD cluster on Chromosome 2
- Meyer M, Kircher M, Gansauge MT, Li H, Racimo F, Mallick S, et al. (October 2012). "A high-coverage genome sequence from an archaic Denisovan individual". Science. 338 (6104): 222–6. Bibcode:2012Sci...338..222M. doi:10.1126/science.1224344. PMC 3617501. PMID 22936568.
- It has been hypothesized that Human Chromosome 2 is a fusion of two ancestral chromosomes by Alec MacAndrew; accessed 18 May 2006.
- Evidence of Common Ancestry: Human Chromosome 2 (video) 2007
- Yunis and Prakash; Prakash, O (1982). "The origin of man: a chromosomal pictorial legacy". Science. 215 (4539): 1525–30. Bibcode:1982Sci...215.1525Y. doi:10.1126/science.7063861. PMID 7063861.
- Human and Ape Chromosomes Archived 6 September 2017 at the Wayback Machine; accessed 8 September 2007.
- Avarello; et al. (1992). "Evidence for an ancestral alphoid domain on the long arm of human chromosome 2". Human Genetics. 89 (2): 247–9. doi:10.1007/BF00217134. PMID 1587535.
- Ijdo, Jacob W.; et al. (1991). "Origin of human chromosome 2: an ancestral telomere-telomere fusion". Proc. Natl. Acad. Sci. U.S.A. 88 (20): 9051–5. Bibcode:1991PNAS...88.9051I. doi:10.1073/pnas.88.20.9051. PMC 52649. PMID 1924367.
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- "Statistics & Downloads for chromosome 2". HUGO Gene Nomenclature Committee. 12 May 2017. Retrieved 19 May 2017.
- "Chromosome 2: Chromosome summary - Homo sapiens". Ensembl Release 88. 29 March 2017. Retrieved 19 May 2017.
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- Swaminathan, Nikhil. "Largest Ever Autism Study Identifies Two Genetic Culprits". Scientific American. Retrieved 25 January 2018.
- 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). Karger Medical and Scientific Publishers. 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. In Computer Science and Software Engineering (JCSSE), 2012 International Joint Conference on. pp. 276–282. doi:10.1109/JCSSE.2012.6261965. ISBN 978-1-4673-1921-8.
- "p": Short arm; "q": Long arm.
- For cytogenetic banding nomenclature, see article locus.
- 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 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.
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