Chromosome 22 (human) | |
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File:Human male karyotpe high resolution - Chromosome 22 cropped.png Human chromosome 20 pair after G-banding. One is from mother, one is from father. | |
File:Human male karyotpe high resolution - Chromosome 22.png Chromosome 22 pair in human male karyogram. | |
Features | |
Length (bp) | 50,818,468 bp (GRCh38)<r="National Center for Biotechnology Inform2017">"Human Genome AssemblGenome Reference Consortium". National Center for Biotechnology Information. 2013-12-24. Retrieved 2017-03-04.</ref> |
No. of genes | 417 (CCDS)[1] |
Type | Autosome |
Centromere position | Acrocentric[2] (15.0 Mbp[3]) |
Complete gene lists | |
CCDS | ? |
HGNC | ? |
UniProt | ? |
NCBI | ? |
External map viewers | |
Ensembl | Chromosome 22 |
Entrez | Chromosome 22 |
NCBI | Chromosome 22 |
UCSC | Chromosome 22 |
Full DNA sequences | |
RefSeq | NC_000022 (FASTA) |
GenBank | CM000684 (FASTA) |
Chromosome 22 is one of the 23 pairs of chromosomes in human cells. Humans normally have two copies of chromosome 22 in each cell. Chromosome 22 is the second smallest human chromosome (chromosome 21 being smaller), spanning about 49 million DNA base pairs and representing between 1.5 and 2% of the total DNA in cells.
In 1999, researchers working on the Human Genome Project announced they had determined the sequence of base pairs that make up this chromosome. Chromosome 22 was the first human chromosome to be fully sequenced.[4]
Chromosome 22 was originally identified as the smallest chromosome. After extensive research, however, researchers concluded that chromosome 21 was smaller. The numbering of these chromosomes wasn't rearranged because of chromosome 21 being known by that designation as the chromosome that can lead to Down syndrome.
The following are some of the gene count estimates of human chromosome 22. 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]
Estimated by | Protein-coding genes | Non-coding RNA genes | Pseudogenes | Source | Release date |
CCDS | 417 | - | - | [1] | 2016-09-08 |
HGNC | 424 | 148 | 288 | [6] | 2017-05-12 |
Ensembl | 489 | 515 | 325 | [7] | 2017-03-29 |
NCBI | 474 | 392 | 379 | [8][9][10] | 2017-05-19 |
The following are some of the genes located on chromosome 22:
Locus | Gene | Description | Condition |
22q11.1-q11.2 | IGL@ | Asymmetric crying facies (Cayler cardiofacial syndrome) | |
22q11.21 | TBX1 | T-box 1 | |
22q11 | RTN4R | Reticulon 4 receptor | Schizophrenia |
22q11.21-q11.23 | COMT | catechol-O-methyltransferase gene | |
22q12.1-q13.1 | NEFH | neurofilament, heavy polypeptide 200kDa | |
22q12.1[11] | CHEK2 | CHK2 checkpoint homolog (S. pombe) | |
22q12.2 | NF2 | neurofibromin 2 | bilateral acoustic neuroma |
22q13 | SOX10 | SRY (sex determining region Y)-box 10 | |
22q13.1 | APOL1 | Apolipoprotein L1 | |
22q13.2 | EP300 | E1A binding protein p300 | |
22q13.3 | WNT7B | Wingless-type MMTV integration site family, member 7B | 22q13 deletion syndrome |
22q13.3 | SHANK3 | SH3 and multiple ankyrin repeat domains 3 | 22q13 deletion syndrome |
22q13.3 | SULT4A1 | sulfotransferase family 4A, member 1 | 22q13 deletion syndrome |
22q13.3 | PARVB | parvin beta (cytoskeleton organization and cell adhesion) | 22q13 deletion syndrome |
The following diseases are some of those related to genes on chromosome 22:
The following conditions are caused by changes in the structure or number of copies of chromosome 22:
Chr. | Arm[20] | Band[21] | ISCN start[22] |
ISCN stop[22] |
Basepair start |
Basepair stop |
Stain[23] | Density |
---|---|---|---|---|---|---|---|---|
22 | p | 13 | 0 | 260 | 1 | 4,300,000 | gvar | |
22 | p | 12 | 260 | 576 | 4,300,001 | 9,400,000 | stalk | |
22 | p | 11.2 | 576 | 836 | 9,400,001 | 13,700,000 | gvar | |
22 | p | 11.1 | 836 | 1015 | 13,700,001 | 15,000,000 | acen | |
22 | q | 11.1 | 1015 | 1234 | 15,000,001 | 17,400,000 | acen | |
22 | q | 11.21 | 1234 | 1563 | 17,400,001 | 21,700,000 | gneg | |
22 | q | 11.22 | 1563 | 1700 | 21,700,001 | 23,100,000 | gpos | 25 |
22 | q | 11.23 | 1700 | 1878 | 23,100,001 | 25,500,000 | gneg | |
22 | q | 12.1 | 1878 | 2029 | 25,500,001 | 29,200,000 | gpos | 50 |
22 | q | 12.2 | 2029 | 2194 | 29,200,001 | 31,800,000 | gneg | |
22 | q | 12.3 | 2194 | 2413 | 31,800,001 | 37,200,000 | gpos | 50 |
22 | q | 13.1 | 2413 | 2687 | 37,200,001 | 40,600,000 | gneg | |
22 | q | 13.2 | 2687 | 2852 | 40,600,001 | 43,800,000 | gpos | 50 |
22 | q | 13.31 | 2852 | 3181 | 43,800,001 | 48,100,000 | gneg | |
22 | q | 13.32 | 3181 | 3290 | 48,100,001 | 49,100,000 | gpos | 50 |
22 | q | 13.33 | 3290 | 3400 | 49,100,001 | 50,818,468 | gneg |
Wikimedia Commons has media related to Human chromosome 22. |