Chromosome 4 is one of the 23 pairs of

chromosome A chromosome is a long DNA molecule with part or all of the genetic material of an organism. In most chromosomes the very long thin DNA fibers are coated with packaging proteins; in eukaryotic cells the most important of these proteins ar ...

s in

human Humans (''Homo sapiens'') are the most abundant and widespread species of primate, characterized by bipedalism and exceptional cognitive skills due to a large and complex brain. This has enabled the development of advanced tools, cultu ...

s. People normally have two copies of this chromosome. Chromosome 4 spans more than 186 million

base pair A base pair (bp) is a fundamental unit of double-stranded nucleic acids consisting of two nucleobases bound to each other by hydrogen bonds. They form the building blocks of the DNA double helix and contribute to the folded structure of both D ...

s (the building material of DNA) and represents between 6 and 6.5 percent of the total DNA in

cells Cell most often refers to: * Cell (biology), the functional basic unit of life Cell may also refer to: Locations * Monastic cell, a small room, hut, or cave in which a religious recluse lives, alternatively the small precursor of a monastery w ...

Genomics

The chromosome is ~191 megabases in length. In a 2012 paper, 775 protein-encoding genes were identified on this chromosome.Chen LC, Liu MY, Hsiao YC, Choong WK, Wu HY, Hsu WL, Liao PC, Sung TY, Tsai SF, Yu JS, Chen YJ (2012) Decoding the disease-associated proteins encoded in the human chromosome 4. J Proteome Res 211 (27.9%) of these coding sequences did not have any experimental evidence at the protein level, in 2012. 271 appear to be membrane proteins. 54 have been classified as cancer-associated proteins.

Genes

Number of genes

The following are some of the gene count estimates of human chromosome 4. 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 In computational biology, gene prediction or gene finding refers to the process of identifying the regions of genomic DNA that encode genes. This includes protein-coding genes as well as RNA genes, but may also include prediction of other functio ...

). 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 4. For complete list, see the link in the infobox on the right.

Diseases and disorders

The following are some of the diseases related to genes located on chromosome 4: *

Achondroplasia Achondroplasia is a genetic disorder with an autosomal dominant pattern of inheritance whose primary feature is dwarfism. In those with the condition, the arms and legs are short, while the torso is typically of normal length. Those affected ha ...

* Autosomal dominant polycystic kidney disease (PKD-2) *

Bladder cancer Bladder cancer is any of several types of cancer arising from the tissues of the urinary bladder. Symptoms include blood in the urine, pain with urination, and low back pain. It is caused when epithelial cells that line the bladder become ma ...

* Crouzonodermoskeletal syndrome *

Chronic lymphocytic leukemia Chronic lymphocytic leukemia (CLL) is a type of cancer in which the bone marrow makes too many lymphocytes (a type of white blood cell). Early on, there are typically no symptoms. Later, non-painful lymph node swelling, feeling tired, fever, nigh ...

Congenital central hypoventilation syndrome Central hypoventilation syndrome (CHS) is a sleep-related breathing disorder that causes ineffective breathing, apnea, or respiratory arrest during sleep (and during wakefulness in severe cases). CHS can either be congenital (CCHS) or acquired ( ...

* Ellis–Van Creveld syndrome *

Facioscapulohumeral muscular dystrophy Facioscapulohumeral muscular dystrophy (FSHD) is a type of muscular dystrophy, a group of heritable diseases that cause degeneration of muscle and progressive weakness. Per the name, FSHD tends to sequentially weaken the muscles of the face, ...

Fibrodysplasia ossificans progressiva Fibrodysplasia ossificans progressiva (; FOP; also called Münchmeyer disease and formerly called myositis ossificans progressiva or Stoneman disease) is an extremely rare connective tissue disease in which fibrous connective tissue such as mus ...

(FOP) *

Haemophilia C Haemophilia C (also known as plasma thromboplastin antecedent (PTA) deficiency or Rosenthal syndrome) is a mild form of haemophilia affecting both sexes, due to factor XI deficiency. It predominantly occurs in Ashkenazi Jews. It is the fourth most ...

Huntington's disease Huntington's disease (HD), also known as Huntington's chorea, is a neurodegenerative disease that is mostly inherited. The earliest symptoms are often subtle problems with mood or mental abilities. A general lack of coordination and an unst ...

Hemolytic uremic syndrome Hemolysis or haemolysis (), also known by several other names, is the rupturing ( lysis) of red blood cells (erythrocytes) and the release of their contents (cytoplasm) into surrounding fluid (e.g. blood plasma). Hemolysis may occur in vivo ...

Hereditary benign intraepithelial dyskeratosis Hereditary benign intraepithelial dyskeratosis is a rare autosomal dominant disease of the conjunctiva and the oral mucosa caused by a duplication of chromosome 4q35. In the mouth it appears similar to white sponge nevus White sponge nevus (WSN) ...

Hirschprung's disease Hirschsprung's disease (HD or HSCR) is a birth defect in which nerves are missing from parts of the intestine. The most prominent symptom is constipation. Other symptoms may include vomiting, abdominal pain, diarrhea and slow growth. Symptoms us ...

Hypochondroplasia Hypochondroplasia (HCH) is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene ('' FGFR3'') that results in a disproportionately short stature, micromeliaupdate 2013 and a head ...

Methylmalonic acidemia Methylmalonic acidemia, also called methylmalonic aciduria, is an autosomal recessive metabolic disorder that disrupts normal amino acid metabolism. It is a classical type of organic acidemia. The result of this condition is the inability to prope ...

Mucopolysaccharidosis type I Mucopolysaccharidosis type I is a spectrum of diseases in the mucopolysaccharidosis family. It results in the buildup of glycosaminoglycans (or GAGs, or mucopolysaccharides) due to a deficiency of alpha-L iduronidase, an enzyme responsible for t ...

Muenke syndrome Muenke syndrome, also known as FGFR3-related craniosynostosis, is a human specific condition characterized by the premature closure of certain bones of the skull during development, which affects the shape of the head and face. First described by M ...

Nonsyndromic deafness Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body. Genetic changes are related to the followi ...

* Nonsyndromic deafness, autosomal dominant *

Parkinson's disease Parkinson's disease (PD), or simply Parkinson's, is a long-term degenerative disorder of the central nervous system that mainly affects the motor system. The symptoms usually emerge slowly, and as the disease worsens, non-motor symptoms becom ...

Polycystic kidney disease Polycystic kidney disease (PKD or PCKD, also known as polycystic kidney syndrome) is a genetic disorder in which the renal tubules become structurally abnormal, resulting in the development and growth of multiple cysts within the kidney. These cy ...

Romano–Ward syndrome Romano–Ward syndrome is the most common form of congenital Long QT syndrome (LQTS), a genetic heart condition that affects the electrical properties of heart muscle cells. Those affected are at risk of abnormal heart rhythms which can lead to f ...

SADDAN Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) is a very rare genetic disorder. This disorder is one that affects bone growth and is characterized by skeletal, brain, and skin abnormalities. Those affected by the d ...

Tetrahydrobiopterin deficiency Tetrahydrobiopterin deficiency (THBD, BH4D) is a rare metabolic disorder that increases the blood levels of phenylalanine. Phenylalanine is an amino acid obtained normally through the diet, but can be harmful if excess levels build up, causing in ...

Thanatophoric dysplasia Thanatophoric dysplasia is a severe skeletal disorder characterized by a disproportionately small ribcage, extremely short limbs and folds of extra skin on the arms and legs. Symptoms and signs Infants with this condition have disproportionately ...

** Type 1 ** Type 2 *

Wolfram syndrome Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, and deafness as well as variou ...

Wolf–Hirschhorn syndrome Wolf–Hirschhorn syndrome (WHS) is a chromosomal deletion syndrome resulting from a partial deletion on the short arm of chromosome 4 (del(4p16.3)). Features include a distinct craniofacial phenotype and intellectual disability. Signs and sympto ...

Cytogenetic band

{, class="wikitable" style="text-align:right" , + G-bands of human chromosome 4 in resolution 850 bphs ! Chr. ! Arm ! Band ! ISCN
startThese 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 In science and technology, an arbitrary unit (abbreviated arb. unit, '' see below'') or procedure defined unit (p.d.u.) is a relative unit of measurement to show the ratio of amount of substance, intensity, or other quantities, to a predetermined ...

. ! ISCN
stop ! Basepair
start ! Basepair
stop ! Staingpos: Region which is positively stained by

G banding G-banding, G banding or Giemsa banding is a technique used in cytogenetics to produce a visible karyotype by staining condensed chromosomes. It is the most common chromosome banding method. It is useful for identifying genetic diseases through the ...

, generally AT-rich and gene poor; gneg: Region which is negatively stained by G banding, generally CG-rich and gene rich; acen

Centromere The centromere links a pair of sister chromatids together during cell division. This constricted region of chromosome connects the sister chromatids, creating a short arm (p) and a long arm (q) on the chromatids. During mitosis, spindle fibers a ...

. var: Variable region; stalk: Stalk. ! Density , - , 4 , , p , style="text-align:left", 16.3 , , 0 , , 220 , , {{val, 1 , , {{val, 4500000 , style="background:white", gneg , , , - , 4 , , p , style="text-align:left", 16.2 , , 220 , , 389 , , {{val, 4500001, fmt=commas , , {{val, 6000000, fmt=commas , style="background:#d9d9d9", gpos , , 25 , - , 4 , , p , style="text-align:left", 16.1 , , 389 , , 779 , , {{val, 6000001, fmt=commas , , {{val, 11300000, fmt=commas , style="background:white", gneg , , , - , 4 , , p , style="text-align:left", 15.33 , , 779 , , 1066 , , {{val, 11300001, fmt=commas , , {{val, 15000000, fmt=commas , style="background:#979797", gpos , , 50 , - , 4 , , p , style="text-align:left", 15.32 , , 1066 , , 1286 , , {{val, 15000001, fmt=commas , , {{val, 17700000, fmt=commas , style="background:white", gneg , , , - , 4 , , p , style="text-align:left", 15.31 , , 1286 , , 1557 , , {{val, 17700001, fmt=commas , , {{val, 21300000, fmt=commas , style="background:#636363; color:white;", gpos , , 75 , - , 4 , , p , style="text-align:left", 15.2 , , 1557 , , 1811 , , {{val, 21300001, fmt=commas , , {{val, 27700000, fmt=commas , style="background:white", gneg , , , - , 4 , , p , style="text-align:left", 15.1 , , 1811 , , 2166 , , {{val, 27700001, fmt=commas , , {{val, 35800000, fmt=commas , style="background:black; color:white;", gpos , , 100 , - , 4 , , p , style="text-align:left", 14 , , 2166 , , 2505 , , {{val, 35800001, fmt=commas , , {{val, 41200000, fmt=commas , style="background:white", gneg , , , - , 4 , , p , style="text-align:left", 13 , , 2505 , , 2742 , , {{val, 41200001, fmt=commas , , {{val, 44600000, fmt=commas , style="background:#979797", gpos , , 50 , - , 4 , , p , style="text-align:left", 12 , , 2742 , , 2877 , , {{val, 44600001, fmt=commas , , {{val, 48200000, fmt=commas , style="background:white", gneg , , , - , 4 , , p , style="text-align:left", 11 , , 2877 , , 3046 , , {{val, 48200001, fmt=commas , , {{val, 50000000, fmt=commas , style="background:#6e7f8f; color:white;", acen , , , - , 4 , , q , style="text-align:left", 11 , , 3046 , , 3249 , , {{val, 50000001, fmt=commas , , {{val, 51800000, fmt=commas , style="background:#6e7f8f; color:white;", acen , , , - , 4 , , q , style="text-align:left", 12 , , 3249 , , 3571 , , {{val, 51800001, fmt=commas , , {{val, 58500000, fmt=commas , style="background:white", gneg , , , - , 4 , , q , style="text-align:left", 13.1 , , 3571 , , 3910 , , {{val, 58500001, fmt=commas , , {{val, 65500000, fmt=commas , style="background:black; color:white;", gpos , , 100 , - , 4 , , q , style="text-align:left", 13.2 , , 3910 , , 4062 , , {{val, 65500001, fmt=commas , , {{val, 69400000, fmt=commas , style="background:white", gneg , , , - , 4 , , q , style="text-align:left", 13.3 , , 4062 , , 4333 , , {{val, 69400001, fmt=commas , , {{val, 75300000, fmt=commas , style="background:#636363; color:white;", gpos , , 75 , - , 4 , , q , style="text-align:left", 21.1 , , 4333 , , 4502 , , {{val, 75300001, fmt=commas , , {{val, 78000000, fmt=commas , style="background:white", gneg , , , - , 4 , , q , style="text-align:left", 21.21 , , 4502 , , 4671 , , {{val, 78000001, fmt=commas , , {{val, 81500000, fmt=commas , style="background:#979797", gpos , , 50 , - , 4 , , q , style="text-align:left", 21.22 , , 4671 , , 4739 , , {{val, 81500001, fmt=commas , , {{val, 83200000, fmt=commas , style="background:white", gneg , , , - , 4 , , q , style="text-align:left", 21.23 , , 4739 , , 4874 , , {{val, 83200001, fmt=commas , , {{val, 86000000, fmt=commas , style="background:#d9d9d9", gpos , , 25 , - , 4 , , q , style="text-align:left", 21.3 , , 4874 , , 5145 , , {{val, 86000001, fmt=commas , , {{val, 87100000, fmt=commas , style="background:white", gneg , , , - , 4 , , q , style="text-align:left", 22.1 , , 5145 , , 5517 , , {{val, 87100001, fmt=commas , , {{val, 92800000, fmt=commas , style="background:#636363; color:white;", gpos , , 75 , - , 4 , , q , style="text-align:left", 22.2 , , 5517 , , 5636 , , {{val, 92800001, fmt=commas , , {{val, 94200000, fmt=commas , style="background:white", gneg , , , - , 4 , , q , style="text-align:left", 22.3 , , 5636 , , 5890 , , {{val, 94200001, fmt=commas , , {{val, 97900000, fmt=commas , style="background:#636363; color:white;", gpos , , 75 , - , 4 , , q , style="text-align:left", 23 , , 5890 , , 6059 , , {{val, 97900001, fmt=commas , , {{val, 100100000, fmt=commas , style="background:white", gneg , , , - , 4 , , q , style="text-align:left", 24 , , 6059 , , 6347 , , {{val, 100100001, fmt=commas , , {{val, 106700000, fmt=commas , style="background:#979797", gpos , , 50 , - , 4 , , q , style="text-align:left", 25 , , 6347 , , 6685 , , {{val, 106700001, fmt=commas , , {{val, 113200000, fmt=commas , style="background:white", gneg , , , - , 4 , , q , style="text-align:left", 26 , , 6685 , , 7040 , , {{val, 113200001, fmt=commas , , {{val, 119900000, fmt=commas , style="background:#636363; color:white;", gpos , , 75 , - , 4 , , q , style="text-align:left", 27 , , 7040 , , 7277 , , {{val, 119900001, fmt=commas , , {{val, 122800000, fmt=commas , style="background:white", gneg , , , - , 4 , , q , style="text-align:left", 28.1 , , 7277 , , 7565 , , {{val, 122800001, fmt=commas , , {{val, 127900000, fmt=commas , style="background:#979797", gpos , , 50 , - , 4 , , q , style="text-align:left", 28.2 , , 7565 , , 7734 , , {{val, 127900001, fmt=commas , , {{val, 130100000, fmt=commas , style="background:white", gneg , , , - , 4 , , q , style="text-align:left", 28.3 , , 7734 , , 8259 , , {{val, 130100001, fmt=commas , , {{val, 138500000, fmt=commas , style="background:black; color:white;", gpos , , 100 , - , 4 , , q , style="text-align:left", 31.1 , , 8259 , , 8581 , , {{val, 138500001, fmt=commas , , {{val, 140600000, fmt=commas , style="background:white", gneg , , , - , 4 , , q , style="text-align:left", 31.21 , , 8581 , , 8733 , , {{val, 140600001, fmt=commas , , {{val, 145900000, fmt=commas , style="background:#d9d9d9", gpos , , 25 , - , 4 , , q , style="text-align:left", 31.22 , , 8733 , , 8851 , , {{val, 145900001, fmt=commas , , {{val, 147500000, fmt=commas , style="background:white", gneg , , , - , 4 , , q , style="text-align:left", 31.23 , , 8851 , , 9004 , , {{val, 147500001, fmt=commas , , {{val, 150200000, fmt=commas , style="background:#d9d9d9", gpos , , 25 , - , 4 , , q , style="text-align:left", 31.3 , , 9004 , , 9207 , , {{val, 150200001, fmt=commas , , {{val, 154600000, fmt=commas , style="background:white", gneg , , , - , 4 , , q , style="text-align:left", 32.1 , , 9207 , , 9545 , , {{val, 154600001, fmt=commas , , {{val, 160800000, fmt=commas , style="background:black; color:white;", gpos , , 100 , - , 4 , , q , style="text-align:left", 32.2 , , 9545 , , 9681 , , {{val, 160800001, fmt=commas , , {{val, 163600000, fmt=commas , style="background:white", gneg , , , - , 4 , , q , style="text-align:left", 32.3 , , 9681 , , 9985 , , {{val, 163600001, fmt=commas , , {{val, 169200000, fmt=commas , style="background:black; color:white;", gpos , , 100 , - , 4 , , q , style="text-align:left", 33 , , 9985 , , 10087 , , {{val, 169200001, fmt=commas , , {{val, 171000000, fmt=commas , style="background:white", gneg , , , - , 4 , , q , style="text-align:left", 34.1 , , 10087 , , 10341 , , {{val, 171000001, fmt=commas , , {{val, 175400000, fmt=commas , style="background:#636363; color:white;", gpos , , 75 , - , 4 , , q , style="text-align:left", 34.2 , , 10341 , , 10408 , , {{val, 175400001, fmt=commas , , {{val, 176600000, fmt=commas , style="background:white", gneg , , , - , 4 , , q , style="text-align:left", 34.3 , , 10408 , , 10628 , , {{val, 176600001, fmt=commas , , {{val, 182300000, fmt=commas , style="background:black; color:white;", gpos , , 100 , - , 4 , , q , style="text-align:left", 35.1 , , 10628 , , 10967 , , {{val, 182300001, fmt=commas , , {{val, 186200000, fmt=commas , style="background:white", gneg , , , - , 4 , , q , style="text-align:left", 35.2 , , 10967 , , 11170 , , {{val, 186200001, fmt=commas , , {{val, 190214555, fmt=commas , style="background:#d9d9d9", gpos , , 25

References

{{reflist

External links

{{Commons category, Human chromosome 4 * {{cite web , author= National Institutes of Health , title= Chromosome 4 , work= Genetics Home Reference , url= http://ghr.nlm.nih.gov/chromosome=4 , archive-url= https://web.archive.org/web/20040803055736/http://ghr.nlm.nih.gov/chromosome=4 , url-status= dead , archive-date= August 3, 2004 , access-date= 2017-05-06 * {{Cite web, url=http://web.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/chromo04.shtml, title=Chromosome 4, website=Human Genome Project Information Archive 1990–2003, access-date=2017-05-06 {{Chromosomes {{Chromosome genetics {{DEFAULTSORT:Chromosome 04 (Human) Chromosome 04 *