Human chromosome
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 190 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 ~193 megabases in length. In a 2012 paper, 775 protein-encoding genes were identified on this chromosome.[ 4] 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 ). 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]
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.
AASDH : aminoadipate-semialdehyde dehydrogenase
ACVR1 : activin-like kinase 2 (ALK-2)
ACOX3 : encoding enzyme Peroxisomal acyl-coenzyme A oxidase 3
AFAP1-AS1 : encoding protein AFAP1 antisense RNA 1
AGA : AGU syndrome (Finnish heritage disease) related gene
AGPAT9 : encoding enzyme Glycerol-3-phosphate acyltransferase 3 a.k.a. 1-acylglycerol-3-phosphate O-acyltransferase 9
ANK2 : ankyrin 2 , neuronal
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
BANK1 : encoding protein B cell scaffold protein with ankyrin repeats 1
BEND4 : encoding protein BEN domain containing 4
CCDC109B : Coiled-coil domain containing 109B
CLNK : encoding protein Cytokine dependent hematopoietic cell linker
Complement Factor I : Complement Factor I
COL25A1-DT : encoding protein Zinc finger, cchc domain containing 23
CRMP1 : Collapsin response mediator protein 1, a member of CRMP family
CSN2 : Beta-casein
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
CYTL1 : Cytokine-like 1
DCUN1D4 : Defective in cullin neddylation 1 domain containing 4
DHX15 : DEAH-box helicase 15
DKK2 : Dickkopf-related protein 2
DMAC1 : encoding protein Transmembrane protein 261
DUX4 : Thought to be inactive but 2010 research shows a key role in FSHD [ 12]
ELMOD2 : Elmo domain-containing 2
EMCN : Endomucin
EVC : Ellis–Van Creveld syndrome
EVC2 : Ellis–Van Creveld syndrome 2 (limbin )
Factor XI : Mutations cause Haemophilia C
FAM114A1 : Family with sequence similarity 114, member A1
FAM149A : Family with sequence similarity 149, member A
FAM193A : Family with sequence similarity 193, member A
FAM198B : encoding protein Protein ENED
FAM221B : Family with sequence similarity 221, member B
FAM47E-STBD1 : FAM47E-STBD1 readthrough
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
FRG1 : FSHD region gene 1
FRYL : encoding protein FRY like transcription coactivator
FSTL5 : encoding protein Follistatin like 5
GUF1 : GUF1 homolog, GTPase
HDL3 : encoding Huntington-like neurodegenerative disorder 2 protein
HELQ : encoding protein Helicase, POLQ-like
HTT (Huntingtin): huntingtin protein (Huntington's disease )
IGJ : linker protein for immunoglobulin alpha and mu polypeptides
INTS12 : Integrator complex subunit 12
KDR : Kinase insert domain receptor (Vascular endothelial growth factor receptor 2)
KIAA1530 : UV stimulated scaffold protein A
KIT : tyrosine-protein kinase KIT, CD117; mast/stem cell growth factor receptor (SCFR)
LCORL : Ligand dependent nuclear receptor corepressor like
LDB2 : LIM domain-binding protein 2
LGI2 : Leucine-rich repeat LGI family member 2
LOC100505912 encoding protein Uncharacterized LOC100505912
LSM6 : U6 snRNA-associated Sm-like protein
LTO1P1 : encoding protein Oral cancer overexpressed 1 pseudogene 1
LYAR : Cell growth-regulating nucleolar protein
MAB21L2 : Mab-21-like 2
Marcksl1 : encoding protein MARCKS-like 1
MAML3 : Mastermind-like 3
MFSD7 : encoding protein Major facilitator superfamily domain containing 7
MIR1269A : microRNA 1269a
MIR95 : non-coding RNA MicroRNA 95
MLF1IP : Centromere protein U
MMAA : methylmalonic aciduria (cobalamin deficiency ) cblA type
MTHFD2L : NAD-dependent methylenetetrahydrofolate dehydrogenase 2-like protein
MYL5 : Myosin light chain 5
NAP1L5 : encoding protein Nucleosome assembly protein 1 like 5
NDNF : encoding protein Neuron derived neurotrophic factor
NOA1 : encoding protein Nitric oxide associated 1
NPNT : encoding protein Nephronectin
NUDT6 : nudix hydrolase 6
NUDT9 : nudix hydrolase 9
OTUD4 : OTU domain-containing protein 4
PABPC4L : encoding protein Poly(A) binding protein, cytoplasmic 4-like
PARM1 : Prostate androgen-regulated mucin-like protein 1
PHOX2B : codes for a homeodomain transcription factor
PI4K2B : Phosphatidylinositol 4-kinase type 2-beta
PKD2 : polycystic kidney disease 2 (autosomal dominant )
PLAC8 : encoding protein Placenta specific 8
PLK4 : Serine/threonine-protein kinase PLK4
PPEF2 : encoding protein Protein phosphatase with ef-hand domain 2
PSAPL1 : encoding protein Prosaposin-like 1 (gene/pseudogene)
QDPR : quinoid dihydropteridine reductase
RBM47 : RNA binding motif protein 47
RG9MTD2 : encoding protein RNA (guanine-9-) methyltransferase domain containing 2
SCRG1 : encoding protein Stimulator of chondrogenesis 1
SDAD1 : protein SDA1 homolog
SEC24B : Sec24 homolog B
SEC24D : Sec24 homolog D
SEPT11 : Septin-11
SLC9B2 : solute carrier family 9 member B2
SLC10A4 : solute carrier family 10 member 4
SMIM20 : encoding protein Small integral membrane protein 20
SNCA : synuclein , alpha (non A4 component of amyloid precursor )
SPATA5 : Spermatogenesis-associated protein 5
STATH : gene with protein product
TACC3 : Transforming acidic coiled-coil-containing protein 3
TENM3 : Teneurin transmembrane protein 3
THAP6 : THAP domain-containing protein 6
TMEM155 : encoding protein Transmembrane protein 155
TMEM165 : encoding protein Transmembrane protein 165
TMEM175 : encoding protein Transmembrane protein 175
TMEM243 : encoding protein Transmembrane protein 243
TMPRSS11D : Transmembrane protease, serine 11D
TMPRSS11F : encoding protein Transmembrane serine protease 11F
TNIP2 : TNFAIP3-interaction protein 2
TNIP3 : encoding protein TNFAIP3 interacting protein 3
UCHL1 : ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase )
UGDH-AS1 : encoding protein UGDH antisense RNA 1
UGT8 : UDP glycosyltransferase 8
UNC5C : netrin receptor UNC5C
UPF0602 : encoding UPF0602 Protein C4orf47
USP38 : encoding protein Ubiquitin specific peptidase 38
USP53 : ubiquitin specific peptidase 53
UTP3 : small subunit processome component
VPS54
WFS1 : Wolfram syndrome 1 (wolframin )
ZGRF1 : zinc-finger GRF-type containing 1
ZNF621 : encoding protein Zinc finger protein 621
Diseases and disorders
The following are some of the diseases related to genes located on chromosome 4:
Cytogenetic band
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 start[ 20]
ISCN stop[ 20]
Basepair start
Basepair stop
Stain[ 21]
Density
4
p
16.3
0
220
1
4,500,000
gneg
4
p
16.2
220
389
4,500,001
6,000,000
gpos
25
4
p
16.1
389
779
6,000,001
11,300,000
gneg
4
p
15.33
779
1066
11,300,001
15,000,000
gpos
50
4
p
15.32
1066
1286
15,000,001
17,700,000
gneg
4
p
15.31
1286
1557
17,700,001
21,300,000
gpos
75
4
p
15.2
1557
1811
21,300,001
27,700,000
gneg
4
p
15.1
1811
2166
27,700,001
35,800,000
gpos
100
4
p
14
2166
2505
35,800,001
41,200,000
gneg
4
p
13
2505
2742
41,200,001
44,600,000
gpos
50
4
p
12
2742
2877
44,600,001
48,200,000
gneg
4
p
11
2877
3046
48,200,001
50,000,000
acen
4
q
11
3046
3249
50,000,001
51,800,000
acen
4
q
12
3249
3571
51,800,001
58,500,000
gneg
4
q
13.1
3571
3910
58,500,001
65,500,000
gpos
100
4
q
13.2
3910
4062
65,500,001
69,400,000
gneg
4
q
13.3
4062
4333
69,400,001
75,300,000
gpos
75
4
q
21.1
4333
4502
75,300,001
78,000,000
gneg
4
q
21.21
4502
4671
78,000,001
81,500,000
gpos
50
4
q
21.22
4671
4739
81,500,001
83,200,000
gneg
4
q
21.23
4739
4874
83,200,001
86,000,000
gpos
25
4
q
21.3
4874
5145
86,000,001
87,100,000
gneg
4
q
22.1
5145
5517
87,100,001
92,800,000
gpos
75
4
q
22.2
5517
5636
92,800,001
94,200,000
gneg
4
q
22.3
5636
5890
94,200,001
97,900,000
gpos
75
4
q
23
5890
6059
97,900,001
100,100,000
gneg
4
q
24
6059
6347
100,100,001
106,700,000
gpos
50
4
q
25
6347
6685
106,700,001
113,200,000
gneg
4
q
26
6685
7040
113,200,001
119,900,000
gpos
75
4
q
27
7040
7277
119,900,001
122,800,000
gneg
4
q
28.1
7277
7565
122,800,001
127,900,000
gpos
50
4
q
28.2
7565
7734
127,900,001
130,100,000
gneg
4
q
28.3
7734
8259
130,100,001
138,500,000
gpos
100
4
q
31.1
8259
8581
138,500,001
140,600,000
gneg
4
q
31.21
8581
8733
140,600,001
145,900,000
gpos
25
4
q
31.22
8733
8851
145,900,001
147,500,000
gneg
4
q
31.23
8851
9004
147,500,001
150,200,000
gpos
25
4
q
31.3
9004
9207
150,200,001
154,600,000
gneg
4
q
32.1
9207
9545
154,600,001
160,800,000
gpos
100
4
q
32.2
9545
9681
160,800,001
163,600,000
gneg
4
q
32.3
9681
9985
163,600,001
169,200,000
gpos
100
4
q
33
9985
10087
169,200,001
171,000,000
gneg
4
q
34.1
10087
10341
171,000,001
175,400,000
gpos
75
4
q
34.2
10341
10408
175,400,001
176,600,000
gneg
4
q
34.3
10408
10628
176,600,001
182,300,000
gpos
100
4
q
35.1
10628
10967
182,300,001
186,200,000
gneg
4
q
35.2
10967
11170
186,200,001
190,214,555
gpos
25
References
^ a b "Search results - 4[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene" . NCBI . CCDS Release 20 for Homo sapiens . 2016-09-08. Retrieved 2017-05-28 .
^ Tom Strachan; Andrew Read (2 April 2010). Human Molecular Genetics . Garland Science. p. 45. 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 from the original on 2017-06-29. Retrieved 2017-05-19 .
^ "Chromosome 4: Chromosome summary - Homo sapiens" . Ensembl Release 88 . 2017-03-29. Retrieved 2017-05-19 .
^ "Human chromosome 4: entries, gene names and cross-references to MIM" . UniProt . 2018-02-28. Retrieved 2018-03-16 .
^ "Search results - 4[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene" . NCBI . 2017-05-19. Retrieved 2017-05-20 .
^ "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. Retrieved 2017-05-20 .
^ "Search results - 4[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene" . NCBI . 2017-05-19. Retrieved 2017-05-20 .
^ 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) . 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" . 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 article locus .
^ 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 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.
Further reading
External links
National Institutes of Health. "Chromosome 4" . Genetics Home Reference . Archived from the original on August 3, 2004. Retrieved 2017-05-06 .
"Chromosome 4" . Human Genome Project Information Archive 1990–2003 . Retrieved 2017-05-06 .
Basic concepts Types Processes and evolution Structures
See also