Human chromosome
Chromosome 4 is one of the 23 pairs ofchromosomes inhumans . People normally have two copies of this chromosome. Chromosome 4 spans more than 190 millionbase pairs (the building material ofDNA ) and represents between 6 and 6.5 percent of the total DNA incells .
The chromosome is ~193 megabases in length. In a 2012 paper, 775 protein-encoding genes were identified on this chromosome.[ 4]
The following are some of the gene count estimates of human chromosome 4. Because researchers use different approaches togenome annotation their predictions of thenumber of genes on each chromosome varies (for technical details, seegene 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.[ 5]
The following is a partial list of genes on human chromosome 4. For complete list, see the link in the infobox on the right.
AASDH : aminoadipate-semialdehyde dehydrogenaseACVR1 : activin-like kinase 2 (ALK-2)ACOX3 : encodingenzyme Peroxisomal acyl-coenzyme A oxidase 3AFAP1-AS1 : encoding protein AFAP1 antisense RNA 1AGA :AGU syndrome (Finnish heritage disease) related geneAGPAT9 : encodingenzyme Glycerol-3-phosphate acyltransferase 3 a.k.a. 1-acylglycerol-3-phosphate O-acyltransferase 9ANK2 :ankyrin 2 ,neuronal APBB2 : encodingprotein Amyloid beta A4 precursor protein-binding family B member 2ART3 : encodingenzyme Ecto-ADP-ribosyltransferase 3ASAHL : encodingenzyme N-acylethanolamine-hydrolyzing acid amidaseBANK1 : encoding protein B cell scaffold protein with ankyrin repeats 1BEND4 : encoding protein BEN domain containing 4CCDC109B : Coiled-coil domain containing 109BCLNK : encoding protein Cytokine dependent hematopoietic cell linkerComplement Factor I : Complement Factor ICOL25A1-DT : encoding protein Zinc finger, cchc domain containing 23CRMP1 : Collapsin response mediator protein 1, a member ofCRMP family CSN2 : Beta-caseinCXCL1 : 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 CYTL1 : Cytokine-like 1DCUN1D4 : Defective in cullin neddylation 1 domain containing 4DHX15 : DEAH-box helicase 15DKK2 : Dickkopf-related protein 2DMAC1 : encoding protein Transmembrane protein 261DUX4 : Thought to be inactive but 2010 research shows a key role inFSHD [ 12] ELMOD2 : Elmo domain-containing 2EMCN : EndomucinEVC :Ellis–Van Creveld syndrome EVC2 :Ellis–Van Creveld syndrome 2 (limbin )Factor XI : Mutations causeHaemophilia C FAM114A1 : Family with sequence similarity 114, member A1FAM149A : Family with sequence similarity 149, member AFAM193A : Family with sequence similarity 193, member AFAM198B : encodingprotein Protein ENEDFAM221B : Family with sequence similarity 221, member BFAM47E-STBD1 : FAM47E-STBD1 readthroughFGF2 :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 1FRG1 : FSHD region gene 1FRYL : encoding protein FRY like transcription coactivatorFSTL5 : encoding protein Follistatin like 5GUF1 : GUF1 homolog, GTPaseHDL3 : encoding Huntington-like neurodegenerative disorder 2 proteinHELQ : encoding protein Helicase, POLQ-likeHTT (Huntingtin):huntingtin protein (Huntington's disease )IGJ : linker protein for immunoglobulin alpha and mu polypeptidesINTS12 : Integrator complex subunit 12KDR : Kinase insert domain receptor (Vascular endothelial growth factor receptor 2)KIAA1530 : UV stimulated scaffold protein AKIT : tyrosine-protein kinase KIT, CD117; mast/stem cell growth factor receptor (SCFR)LCORL : Ligand dependent nuclear receptor corepressor likeLDB2 : LIM domain-binding protein 2LGI2 : Leucine-rich repeat LGI family member 2LOC100505912 encodingprotein Uncharacterized LOC100505912LSM6 : U6 snRNA-associated Sm-like proteinLTO1P1 : encoding protein Oral cancer overexpressed 1 pseudogene 1LYAR : Cell growth-regulating nucleolar proteinMAB21L2 : Mab-21-like 2Marcksl1 : encodingprotein MARCKS-like 1MAML3 : Mastermind-like 3MFSD7 : encodingprotein Major facilitator superfamily domain containing 7MIR1269A : microRNA 1269aMIR95 : non-coding RNA MicroRNA 95MLF1IP : Centromere protein UMMAA :methylmalonic aciduria (cobalamin deficiency ) cblA typeMTHFD2L : NAD-dependent methylenetetrahydrofolate dehydrogenase 2-like proteinMYL5 : Myosin light chain 5NAP1L5 : encoding protein Nucleosome assembly protein 1 like 5NDNF : encoding protein Neuron derived neurotrophic factorNOA1 : encodingprotein Nitric oxide associated 1NPNT : encoding protein NephronectinNUDT6 : nudix hydrolase 6NUDT9 : nudix hydrolase 9OTUD4 : OTU domain-containing protein 4PABPC4L : encodingprotein Poly(A) binding protein, cytoplasmic 4-likePARM1 : Prostate androgen-regulated mucin-like protein 1PHOX2B : codes for ahomeodomain transcription factorPI4K2B : Phosphatidylinositol 4-kinase type 2-betaPKD2 :polycystic kidney disease 2 (autosomal dominant )PLAC8 : encoding protein Placenta specific 8PLK4 : Serine/threonine-protein kinase PLK4PPEF2 : encoding protein Protein phosphatase with ef-hand domain 2PSAPL1 : encodingprotein Prosaposin-like 1 (gene/pseudogene)QDPR :quinoid dihydropteridine reductase RBM47 : RNA binding motif protein 47RG9MTD2 : encoding protein RNA (guanine-9-) methyltransferase domain containing 2SCRG1 : encoding protein Stimulator of chondrogenesis 1SDAD1 : protein SDA1 homologSEC24B : Sec24 homolog BSEC24D : Sec24 homolog DSEPT11 : Septin-11SLC9B2 : solute carrier family 9 member B2SLC10A4 : solute carrier family 10 member 4SMIM20 : encodingprotein Small integral membrane protein 20SNCA :synuclein ,alpha (non A4 component of amyloid precursor )SPATA5 : Spermatogenesis-associated protein 5STATH : gene with protein productTACC3 : Transforming acidic coiled-coil-containing protein 3TENM3 : Teneurin transmembrane protein 3THAP6 : THAP domain-containing protein 6TMEM155 : encoding protein Transmembrane protein 155TMEM165 : encoding protein Transmembrane protein 165TMEM175 : encoding protein Transmembrane protein 175TMEM243 : encoding protein Transmembrane protein 243TMPRSS11D : Transmembrane protease, serine 11DTMPRSS11F : encoding protein Transmembrane serine protease 11FTNIP2 : TNFAIP3-interaction protein 2TNIP3 : encoding protein TNFAIP3 interacting protein 3UCHL1 :ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase )UGDH-AS1 : encoding protein UGDH antisense RNA 1UGT8 : UDP glycosyltransferase 8UNC5C : netrin receptor UNC5CUPF0602 : encoding UPF0602 Protein C4orf47USP38 : encodingprotein Ubiquitin specific peptidase 38USP53 : ubiquitin specific peptidase 53UTP3 : small subunit processome componentVPS54 WFS1 :Wolfram syndrome 1 (wolframin )ZGRF1 : zinc-finger GRF-type containing 1ZNF621 : encodingprotein Zinc finger protein 621Diseases and disorders [ edit ] The following are some of the diseases related to genes located on chromosome 4:
G-banding ideograms of human chromosome 4
G-banding ideogram of human chromosome 4 in resolution 850 bphs. Band length in this diagram is proportional to base-pair length. This type of ideogram is generally used in genome browsers (e.g.
Ensembl ,
UCSC Genome Browser ).
G-banding patterns of human chromosome 4 in three different resolutions (400,
[ 13] 550
[ 14] and 850
[ 3] ). Band length in this diagram is based on the ideograms from ISCN (2013).
[ 15] This type of ideogram represents actual relative band length observed under a microscope at the different moments during the
mitotic process .
[ 16] G-bands of human chromosome 4 in resolution 850 bphs[ 17] Chr. Arm[ 18] Band[ 19] ISCN[ 20] ISCN[ 20] Basepair Basepair Stain[ 21] Density 4 p 16.3 0 220 1 gneg 4 p 16.2 220 389 gpos 25 4 p 16.1 389 779 gneg 4 p 15.33 779 1066 gpos 50 4 p 15.32 1066 1286 gneg 4 p 15.31 1286 1557 gpos 75 4 p 15.2 1557 1811 gneg 4 p 15.1 1811 2166 gpos 100 4 p 14 2166 2505 gneg 4 p 13 2505 2742 gpos 50 4 p 12 2742 2877 gneg 4 p 11 2877 3046 acen 4 q 11 3046 3249 acen 4 q 12 3249 3571 gneg 4 q 13.1 3571 3910 gpos 100 4 q 13.2 3910 4062 gneg 4 q 13.3 4062 4333 gpos 75 4 q 21.1 4333 4502 gneg 4 q 21.21 4502 4671 gpos 50 4 q 21.22 4671 4739 gneg 4 q 21.23 4739 4874 gpos 25 4 q 21.3 4874 5145 gneg 4 q 22.1 5145 5517 gpos 75 4 q 22.2 5517 5636 gneg 4 q 22.3 5636 5890 gpos 75 4 q 23 5890 6059 gneg 4 q 24 6059 6347 gpos 50 4 q 25 6347 6685 gneg 4 q 26 6685 7040 gpos 75 4 q 27 7040 7277 gneg 4 q 28.1 7277 7565 gpos 50 4 q 28.2 7565 7734 gneg 4 q 28.3 7734 8259 gpos 100 4 q 31.1 8259 8581 gneg 4 q 31.21 8581 8733 gpos 25 4 q 31.22 8733 8851 gneg 4 q 31.23 8851 9004 gpos 25 4 q 31.3 9004 9207 gneg 4 q 32.1 9207 9545 gpos 100 4 q 32.2 9545 9681 gneg 4 q 32.3 9681 9985 gpos 100 4 q 33 9985 10087 gneg 4 q 34.1 10087 10341 gpos 75 4 q 34.2 10341 10408 gneg 4 q 34.3 10408 10628 gpos 100 4 q 35.1 10628 10967 gneg 4 q 35.2 10967 11170 gpos 25
^a b "Search results - 4[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene" .NCBI . CCDS Release 20 forHomo sapiens . 2016-09-08. Retrieved2017-05-28 .^ Tom Strachan; Andrew Read (2 April 2010).Human Molecular Genetics ISBN 978-1-136-84407-2 ^a b Genome Decoration Page, NCBI.Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3) . Last update 2014-06-03. Retrieved 2017-04-26. ^ 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 ^ Pertea M, Salzberg SL (2010)."Between a chicken and a grape: estimating the number of human genes" .Genome Biol .11 (5): 206.doi :10.1186/gb-2010-11-5-206 PMC 2898077 PMID 20441615 . ^ "Statistics & Downloads for chromosome 4" .HUGO Gene Nomenclature Committee . 2017-05-12. Archived fromthe original on 2017-06-29. Retrieved2017-05-19 .^ "Chromosome 4: Chromosome summary - Homo sapiens" .Ensembl Release 88 . 2017-03-29. Retrieved2017-05-19 .^ "Human chromosome 4: entries, gene names and cross-references to MIM" .UniProt . 2018-02-28. Retrieved2018-03-16 .^ "Search results - 4[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene" .NCBI . 2017-05-19. Retrieved2017-05-20 .^ "Search results - 4[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. Retrieved2017-05-20 .^ "Search results - 4[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene" .NCBI . 2017-05-19. Retrieved2017-05-20 .^ Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW, Miller DG, Tapscott SJ, Tawil R, Frants RR, van der Maarel SM (September 2010)."A unifying genetic model for facioscapulohumeral muscular dystrophy" .Science .329 (5999):1650– 3.Bibcode :2010Sci...329.1650L .doi :10.1126/science.1189044 .PMC 4677822 PMID 20724583 . ^ 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) 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" .2012 Ninth International Conference on Computer Science and Software Engineering (JCSSE) . pp. 276– 282.doi :10.1109/JCSSE.2012.6261965 .ISBN 978-1-4673-1921-8 S2CID 16666470 . ^ Genome Decoration Page, NCBI.Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3) . Last update 2014-06-03. Retrieved 2017-04-26. ^ "p ": Short arm; "q ": Long arm. ^ For cytogenetic banding nomenclature, see articlelocus . ^a b 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 byG banding , generallyAT-rich and gene poor;gneg : Region which is negatively stained by G banding, generallyCG-rich and gene rich;acen Centromere .var : Variable region;stalk : Stalk.National Institutes of Health."Chromosome 4" .Genetics Home Reference . Archived fromthe original on August 3, 2004. Retrieved2017-05-06 . "Chromosome 4" .Human Genome Project Information Archive 1990–2003 . Retrieved2017-05-06 .
Basic Types Processes Structures
See also
