Chromosome 3 Explained

Length Bp:	201,105,948 bp (CHM13)
Genes:	1,024 (CCDS)
Type:	Autosome
Centromere Position:	Metacentric^[1] (90.9 Mbp^[2])
Chr:	3
Ensembl Id:	3
Entrez Id:	3
Ncbi Id:	3
Ucsc Id:	3
Refseq Id:	NC_000003
Genbank Id:	CM000665

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.

Genes

Number of genes

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.^[3]

Estimated by	Protein-coding genes	Non-coding RNA genes	Pseudogenes	Source	Release date
	1,024	—	—	^[4]	2016-09-08
HGNC	1,036	483	761	^[5]	2017-05-12
	1,073	1,158	761	^[6]	2017-03-29
	1,081	—	—	^[7]	2018-02-28
	1,085	1,108	902	^[8] ^[9] ^[10]	2017-05-19

List of genes

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

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

q-arm

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

Diseases and disorders

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^{[11] [12]}
• 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
• Moyamoya 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
• Pseudocholinesterase 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
• von Hippel–Lindau syndrome
• Waardenburg syndrome
• Xeroderma pigmentosum, complementation group c

Cytogenetic band

G-bands of human chromosome 3 in resolution 850 bphs! Chr. ! Arm^[13] ! Band^[14] ! ISCN
start^[15] ! ISCN
stop! Basepair
start ! Basepair
stop ! Stain^[16] ! Density

3	p	26.3	0	175			gpos	50
3	p	26.2	175	263			gneg
3	p	26.1	263	408			gpos	50
3	p	25.3	408	642			gneg
3	p	25.2	642	759			gpos	25
3	p	25.1	759	963			gneg
3	p	24.3	963	1269			gpos	100
3	p	24.2	1269	1357			gneg
3	p	24.1	1357	1561			gpos	75
3	p	23	1561	1751			gneg
3	p	22.3	1751	1926			gpos	50
3	p	22.2	1926	2013			gneg
3	p	22.1	2013	2188			gpos	75
3	p	21.33	2188	2451			gneg
3	p	21.32	2451	2626			gpos	50
3	p	21.31	2626	3239			gneg
3	p	21.2	3239	3385			gpos	25
3	p	21.1	3385	3676			gneg
3	p	14.3	3676	3910			gpos	50
3	p	14.2	3910	4143			gneg
3	p	14.1	4143	4362			gpos	50
3	p	13	4362	4566			gneg
3	p	12.3	4566	4814			gpos	75
3	p	12.2	4814	4946			gneg
3	p	12.1	4946	5077			gpos	75
3	p	11.2	5077	5135			gneg
3	p	11.1	5135	5266			acen
3	q	11.1	5266	5427			acen
3	q	11.2	5427	5602			gvar
3	q	12.1	5602	5762			gneg
3	q	12.2	5762	5850			gpos	25
3	q	12.3	5850	5996			gneg
3	q	13.11	5996	6229			gpos	75
3	q	13.12	6229	6361			gneg
3	q	13.13	6361	6594			gpos	50
3	q	13.2	6594	6682			gneg
3	q	13.31	6682	6871			gpos	75
3	q	13.32	6871	6973			gneg
3	q	13.33	6973	7148			gpos	75
3	q	21.1	7148	7294			gneg
3	q	21.2	7294	7440			gpos	25
3	q	21.3	7440	7674			gneg
3	q	22.1	7674	7936			gpos	25
3	q	22.2	7936	8053			gneg
3	q	22.3	8053	8228			gpos	25
3	q	23	8228	8461			gneg
3	q	24	8461	8811			gpos	100
3	q	25.1	8811	9001			gneg
3	q	25.2	9001	9162			gpos	50
3	q	25.31	9162	9264			gneg
3	q	25.32	9264	9366			gpos	50
3	q	25.33	9366	9453			gneg
3	q	26.1	9453	9803			gpos	100
3	q	26.2	9803	9949			gneg
3	q	26.31	9949	10183			gpos	75
3	q	26.32	10183	10329			gneg
3	q	26.33	10329	10489			gpos	75
3	q	27.1	10489	10620			gneg
3	q	27.2	10620	10737			gpos	25
3	q	27.3	10737	10883			gneg
3	q	28	10883	11175			gpos	75
3	q	29	11175	11700			gneg

See also

• Coiled-coil domain-containing 37 (FLJ40083)
• RTP3 (gene)

External links

• Web site: National Institutes of Health . Chromosome 3 . Genetics Home Reference . 2017-05-06 . 2010-04-08 . https://web.archive.org/web/20100408061926/http://ghr.nlm.nih.gov/chromosome=3 . dead .
• Web site: Chromosome 3. Human Genome Project Information Archive 1990–2003. 2017-05-06.

Notes and References

1. Book: Tom Strachan. Andrew Read. Human Molecular Genetics. 2 April 2010. Garland Science. 978-1-136-84407-2. 45.
2. Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
3. Pertea M, Salzberg SL. Between a chicken and a grape: estimating the number of human genes. . Genome Biol . 2010 . 11 . 5 . 206 . 20441615 . 10.1186/gb-2010-11-5-206 . 2898077 . free .
4. Web site: 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 . 2017-05-28.
5. Web site: Statistics & Downloads for chromosome 3 . HUGO Gene Nomenclature Committee . 2017-05-12 . 2017-05-19 . 2017-06-29 . https://web.archive.org/web/20170629160239/http://www.genenames.org/cgi-bin/statistics?c=3 . dead .
6. Web site: Chromosome 3: Chromosome summary – Homo sapiens . Ensembl Release 88 . 2017-03-29 . 2017-05-19.
7. Web site: Human chromosome 3: entries, gene names and cross-references to MIM . UniProt . 2018-02-28 . 2018-03-16.
8. Web site: Search results – 3[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) – Gene . NCBI . 2017-05-19 . 2017-05-20.
9. Web site: 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 . 2017-05-20.
10. Web site: Search results – 3[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) – Gene . NCBI . 2017-05-19 . 2017-05-20.
11. Web site: Scientists pinpoint genes common among people with severe coronavirus infections. .
12. 10.1056/NEJMoa2020283. Genomewide Association Study of Severe Covid-19 with Respiratory Failure. New England Journal of Medicine. 2020. 383. 16. 1522–1534. 32558485. Severe Covid-19 GWAS Group. Ellinghaus. D.. Degenhardt. F.. Bujanda. L.. Buti. M.. Albillos. A.. Invernizzi. P.. Fernández. J.. Prati. D.. Baselli. G.. Asselta. R.. Grimsrud. M. M.. Milani. C.. Aziz. F.. Kässens. J.. May. S.. Wendorff. M.. Wienbrandt. L.. Uellendahl-Werth. F.. Zheng. T.. Yi. X.. De Pablo. R.. Chercoles. A. G.. Palom. A.. Garcia-Fernandez. A. E.. Rodriguez-Frias. F.. Zanella. A.. Bandera. A.. Protti. A.. Aghemo. A.. 7315890. 1.
13. "p": Short arm; "q": Long arm.
14. For cytogenetic banding nomenclature, see article locus.
15. 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.
16. 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.