Chromosome 18
Human chromosome
From Wikipedia, the free encyclopedia
Chromosome 18 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 18 spans about 80 million base pairs (the building material of DNA) and represents about 2.5 percent of the total DNA in cells.
Length (bp)80,542,538 bp
(CHM13)
(CHM13)
No. of genes261 (CCDS)[1]
TypeAutosome
Centromere positionSubmetacentric[2]
(18.5 Mbp[3])
(18.5 Mbp[3])
| Chromosome 18 | |
|---|---|
 Human chromosome 18 pair after G-banding. One is from mother, one is from father. | |
 Chromosome 18 pair in human male karyogram. | |
| Features | |
| Length (bp) | 80,542,538 bp (CHM13) |
| No. of genes | 261 (CCDS)[1] |
| Type | Autosome |
| Centromere position | Submetacentric[2] (18.5 Mbp[3]) |
| Complete gene lists | |
| CCDS | Gene list |
| HGNC | Gene list |
| UniProt | Gene list |
| NCBI | Gene list |
| External map viewers | |
| Ensembl | Chromosome 18 |
| Entrez | Chromosome 18 |
| NCBI | Chromosome 18 |
| UCSC | Chromosome 18 |
| Full DNA sequences | |
| RefSeq | NC_000018 (FASTA) |
| GenBank | CM000680 (FASTA) |
Genes
Number of genes
The following are some of the gene count estimates of human chromosome 18. 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.[4]
| Estimated by | Protein-coding genes | Non-coding RNA genes | Pseudogenes | Source | Release date |
|---|---|---|---|---|---|
| CCDS | 261 | — | — | [1] | 2016-09-08 |
| HGNC | 262 | 138 | 241 | [5] | 2017-05-12 |
| Ensembl | 268 | 608 | 247 | [6] | 2017-03-29 |
| UniProt | 276 | — | — | [7] | 2018-02-28 |
| NCBI | 285 | 432 | 304 | [8][9][10] | 2017-05-19 |
Gene list
The following is a partial list of genes on human chromosome 18. For complete list, see the link in the infobox on the right.
- ASXL3: encoding protein Additional sex combs like 3 (Drosophila)
- C18orf63: encoding protein Chromosome 18 open reading frame 63
- CABLES1: encoding protein CDK5 and ABL1 enzyme substrate 1
- CABYR: Calcium-binding tyrosine phosphorylation-regulated protein
- CHMP1B: Charged multivesicular body protein 1b
- CXXC1: CXXC-type zinc finger protein 1
- DCC: Deleted in Colorectal Cancer
- DIPK1C: encoding protein Divergent protein kinase domain 1C
- ELAC1: elaC ribonuclease Z 1
- ESCO1: encoding protein Establishment of sister chromatid cohesion N-acetyltransferase 1
- FECH: ferrochelatase (protoporphyria)
- GREB1L: encoding protein Growth regulation by estrogen in breast cancer-like
- HAUS1: HAUS augmin-like complex subunit 1
- HDHD2: encoding enzyme Haloacid dehalogenase-like hydrolase domain-containing protein 2
- IER3IP1: encoding protein Immediate early response 3-interacting protein 1
- MIR133A1: encoding microRNA MicroRNA 133a-1
- MIR187: encoding protein MicroRNA 187
- MRCL3: encoding protein Myosin regulatory light chain 12A
- NAPG: encoding protein Gamma-soluble NSF attachment protein
- NOL4: encoding protein Nucleolar protein 4
- NPC1: Niemann-Pick disease, type C1
- PIGN: encoding protein Phosphatidylinositol glycan anchor biosynthesis, class N
- PSTPIP2: encoding enzyme Proline-serine-threonine phosphatase-interacting protein 2
- RP11-267C16.1: non-coding
- SERPINB10: encoding protein Serpin peptidase inhibitor, clade B (ovalbumin), member 10
- SIGLEC15: encoding protein Sialic acid binding Ig-like lectin 15
- SMAD4: SMAD, mothers against DPP homolog 4 (Drosophila)
- TMEM241: encoding protein Transmembrane protein 241
- TTC39C: encoding protein Tetratricopeptide repeat protein 39C
- TWSG1: encoding protein Twisted gastrulation protein homolog 1
- ZCCHC2: encoding protein Zinc finger CCHC domain-containing protein 2
- ZFP161: encoding protein Zinc finger protein 161 homolog
- ZNF236: encoding protein Zinc finger protein 236
- ZNF516: encoding protein Zinc finger protein 516
- ZNF521: encoding protein Zinc finger protein 521
- ZNF532: encoding protein Zinc finger protein 532
Diseases and disorders
The following diseases are some of those related to genes on chromosome 18:
- Erythropoietic protoporphyria
- Hereditary hemorrhagic telangiectasia
- Niemann–Pick disease type C
- Porphyria
- Selective mutism
- Edwards syndrome (trisomy 18)
- Tetrasomy 18p
- Monosomy 18p
- Pitt–Hopkins syndrome 18q21
- Distal 18q- (distal deletion)[11]
- Proximal 18q- (proximal deletion)
Cytogenetic band
G-banding ideograms of human chromosome 18
G-banding ideogram of human chromosome 18 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 18 in three different resolutions (400,[12] 550[13] and 850[3]). Band length in this diagram is based on the ideograms from ISCN (2013).[14] This type of ideogram represents actual relative band length observed under a microscope at the different moments during the mitotic process.[15]
| Chr. | Arm[17] | Band[18] | ISCN start[19] |
ISCN stop[19] |
Basepair start |
Basepair stop |
Stain[20] | Density |
|---|---|---|---|---|---|---|---|---|
| 18 | p | 11.32 | 0 | 159 | 1 | 2,900,000 | gneg | |
| 18 | p | 11.31 | 159 | 430 | 2,900,001 | 7,200,000 | gpos | 50 |
| 18 | p | 11.23 | 430 | 526 | 7,200,001 | 8,500,000 | gneg | |
| 18 | p | 11.22 | 526 | 685 | 8,500,001 | 10,900,000 | gpos | 25 |
| 18 | p | 11.21 | 685 | 1035 | 10,900,001 | 15,400,000 | gneg | |
| 18 | p | 11.1 | 1035 | 1290 | 15,400,001 | 18,500,000 | acen | |
| 18 | q | 11.1 | 1290 | 1561 | 18,500,001 | 21,500,000 | acen | |
| 18 | q | 11.2 | 1561 | 1847 | 21,500,001 | 27,500,000 | gneg | |
| 18 | q | 12.1 | 1847 | 2229 | 27,500,001 | 35,100,000 | gpos | 100 |
| 18 | q | 12.2 | 2229 | 2436 | 35,100,001 | 39,500,000 | gneg | |
| 18 | q | 12.3 | 2436 | 2755 | 39,500,001 | 45,900,000 | gpos | 75 |
| 18 | q | 21.1 | 2755 | 3153 | 45,900,001 | 50,700,000 | gneg | |
| 18 | q | 21.2 | 3153 | 3392 | 50,700,001 | 56,200,000 | gpos | 75 |
| 18 | q | 21.31 | 3392 | 3519 | 56,200,001 | 58,600,000 | gneg | |
| 18 | q | 21.32 | 3519 | 3663 | 58,600,001 | 61,300,000 | gpos | 50 |
| 18 | q | 21.33 | 3663 | 3758 | 61,300,001 | 63,900,000 | gneg | |
| 18 | q | 22.1 | 3758 | 4077 | 63,900,001 | 69,100,000 | gpos | 100 |
| 18 | q | 22.2 | 4077 | 4204 | 69,100,001 | 71,000,000 | gneg | |
| 18 | q | 22.3 | 4204 | 4411 | 71,000,001 | 75,400,000 | gpos | 25 |
| 18 | q | 23 | 4411 | 4650 | 75,400,001 | 80,373,285 | gneg |
