Chromosome 4 (human)

Chromosome 4 (human)
Human chromosome 4 pair after G-banding. One is from mother, one is from father.
Chromosome 4 pair in human male karyogram.
Features
Length (bp)	190,214,555 bp
Number of genes	1,702
Type	Autosome
Centromere position	Submetacentric[1]
Identifiers
RefSeq	NC_000004
GenBank	CM000666

Ideogram of human chromosome 4. Mbp means mega base pair. See locus for other notation.

Chromosome 4 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 4 spans more than 186 million base pairs (the building material of DNA) and represents between 6 and 6.5 percent of the total DNA in cells.

Genomics

The chromosome is ~191 megabases in length. Seven hundred and fifty seven protein encoding genes have been identified on this chromosome to date.^[2] Two-hundred and eleven (27.9%) of these coding sequences currently do not have any experimental evidence at the protein level. two-hundred and seventy one appear to be membrane proteins. 54 have been classified as cancer associated proteins.

Genes

The following are some of the genes located on chromosome 4:

• ANK2: ankyrin 2, neuronal
• ACVR1: activin-like kinase 2 (ALK-2)
• ACOX3: encoding enzyme Peroxisomal acyl-coenzyme A oxidase 3
• AGPAT9: encoding enzyme Glycerol-3-phosphate acyltransferase 3 aka 1-acylglycerol-3-phosphate O-acyltransferase 9
• APBB2: encoding protein Amyloid beta A4 precursor protein-binding family B member 2
• ART3: encoding enzyme Ecto-ADP-ribosyltransferase 3
• ASAHL: encoding enzyme N-acylethanolamine-hydrolyzing acid amidase
• C4orf18: encoding protein Protein ENED
• Complement Factor I: Complement Factor I
• CRMP1: Collapsin response mediator protein 1, a member of CRMP family
• CXCL1: chemokine (C-X-C motif) ligand 1, scyb1
• CXCL2: chemokine (C-X-C motif) ligand 2, scyb2
• CXCL3: chemokine (C-X-C motif) ligand 3, scyb3
• CXCL4: chemokine (C-X-C motif) ligand 4, Platelet factor-4, PF-4, scyb4
• CXCL5: chemokine (C-X-C motif) ligand 5, scyb5
• CXCL6: chemokine (C-X-C motif) ligand 6, scyb6
• CXCL7: chemokine (C-X-C motif) ligand 7, PPBP, scyb7
• CXCL8: chemokine (C-X-C motif) ligand 8, interleukin 8 (IL-8), scyb8
• CXCL9: chemokine (C-X-C motif) ligand 9, scyb9
• CXCL10: chemokine (C-X-C motif) ligand 10, scyb10
• CXCL11: chemokine (C-X-C motif) ligand 11, scyb11
• CXCL13: chemokine (C-X-C motif) ligand 13, scyb13
• DUX4: Thought to be inactive but 2010 research shows a key role in FSHD^[3]
• EVC: Ellis van Creveld syndrome
• EVC2: Ellis van Creveld syndrome 2 (limbin)
• Factor XI: Mutations cause Haemophilia C
• FGF2: Fibroblast growth factor 2 (basic fibroblast growth factor)
• FGFR3: fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism, bladder cancer)
• FGFRL1: fibroblast growth factor receptor-like 1
• HCL2 (also called RHA or RHC): related to red hair
• HTT (Huntingtin): huntingtin protein (Huntington's disease)
• IGJ: linker protein for immunoglobulin alpha and mu polypeptides
• KDR: Kinase insert domain receptor (Vascular endothelial growth factor receptor 2)
• MMAA: methylmalonic aciduria (cobalamin deficiency) cblA type
• PHOX2B: codes for a homeodomain transcription factor
• PKD2: polycystic kidney disease 2 (autosomal dominant)
• PLK4: Serine/threonine-protein kinase PLK4
• QDPR: quinoid dihydropteridine reductase
• STATH: gene with protein product
• SNCA: synuclein, alpha (non A4 component of amyloid precursor)
• UCHL1: ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
• UNC5C: netrin receptor UNC5C
• WFS1: Wolfram syndrome 1 (wolframin)

Diseases and disorders

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

• Achondroplasia
• Autosomal dominant polycystic kidney disease (PKD-2)
• Bladder cancer
• Crouzonodermoskeletal syndrome
• Chronic lymphocytic leukemia
• Congenital central hypoventilation syndrome
• Ellis-van Creveld syndrome
• Facioscapulohumeral muscular dystrophy
• Fibrodysplasia ossificans progressiva (FOP)
• Haemophilia C
• Huntington's disease
• Hemolytic uremic syndrome
• Hereditary benign intraepithelial dyskeratosis
• Hirschprung's disease
• Hypochondroplasia
• Methylmalonic acidemia
• Muenke syndrome
• Nonsyndromic deafness
• Nonsyndromic deafness, autosomal dominant
• Parkinson's disease
• Polycystic kidney disease
• Romano-Ward syndrome
• SADDAN
• Tetrahydrobiopterin deficiency
• Thanatophoric dysplasia
  • Type 1
  • Type 2
• Wolfram syndrome
• Wolf–Hirschhorn syndrome

References

• Goldfrank D, Schoenberger E, Gilbert F; Schoenberger; Gilbert (2003). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 4". Genet Test. 7 (4): 351–72. doi:10.1089/109065703322783752. PMID 15000816.
• Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Lou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinawalla AT, Teddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Pork P, Suyama M, Torrents D, Waterston RH, Wilson RK; Graves; Fulton; Fulton; Pepin; Minx; Wagner-Mcpherson; Layman; Wylie; Sekhon; Becker; Fewell; Delehaunty; Miner; Nash; Kremitzki; Oddy; Du; Sun; Bradshaw-Cordum; Ali; Carter; Cordes; Harris; Isak; Van Brunt; Nguyen; Du; Courtney; et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature. 434 (7034): 724–31. Bibcode:2005Natur.434..724H. doi:10.1038/nature03466. PMID 15815621.

1. "Table 2.3: Human chromosome groups". Human Molecular Genetics (2nd ed.). Garland Science. 1999.
2. 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 enoded in the human chromosome 4. J Proteome Res
3. Lemmers, Richard; Patrick J. van der Vliet, Rinse Klooster, Sabrina Sacconi, Pilar Camaño, Johannes G. Dauwerse, Lauren Snider, Kirsten R. Straasheijm, Gert Jan van Ommen, George W. Padberg, Daniel G. Miller, Stephen J. Tapscott, Rabi Tawil, Rune R. Frants, and Silvère M. van der Maarel; Klooster, Rinse; Sacconi, Sabrina; Camaño, Pilar; Dauwerse, Johannes G.; Snider, Lauren; Straasheijm, Kirsten R.; Jan Van Ommen, Gert; Padberg, George W.; Miller, Daniel G.; Tapscott, Stephen J.; Tawil, Rabi; Frants, Rune R.; Van Der Maarel, Silvère M. (19 August 2010). "A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy". Science. 329 (5999): 1650–3. Bibcode:2010Sci...329.1650L. doi:10.1126/science.1189044. PMID 20724583.