2q13 Copy Number Variation
Description
The 2q13 copy number variation syndrome can result in the loss of up to 25 protein-coding genes. Patients with 2q13 deletions and duplications had abnormal head size and dysmorphic features. The abnormal head size in 2q13 could be explained by the changes in FBLN7 gene. At the same time, neuropsychiatric impairment in 2q13 may be associated with BCL2L11, ANAPC1, SLC1A1 and MERTK alterations.
Genomic location
Assembly:
Coordinates:
Disorder Information from Orphanet
Molecular pathway
Gene Information
| HGNC | Gene Name | NCBI | Ensembl | UniProt |
|---|---|---|---|---|
| ACOXL | acyl-CoA oxidase like | 55289 | ENSG00000153093 | Q9NUZ1 |
| BCL2L11 | BCL2 like 11 | 10018 | ENSG00000153094 | O43521 |
| ANAPC1 | anaphase promoting complex subunit 1 | 64682 | ENSG00000153107 | Q9H1A4 |
| MERTK | MER proto-oncogene, tyrosine kinase | 10461 | ENSG00000153208 | Q12866 |
| TMEM87B | transmembrane protein 87B | 84910 | ENSG00000153214 | Q96K49 |
| FBLN7 | fibulin 7 | 129804 | ENSG00000144152 | Q53RD9 |
| ZC3H8 | zinc finger CCCH-type containing 8 | 84524 | ENSG00000144161 | Q8N5P1 |
| ZC3H6 | zinc finger CCCH-type containing 6 | 376940 | ENSG00000188177 | P61129 |
| RGPD8 | RANBP2 like and GRIP domain containing 8 | 727851 | ENSG00000169629 | O14715 |
| TTL | tubulin tyrosine ligase | 150465 | ENSG00000114999 | Q8NG68 |
| POLR1B | RNA polymerase I subunit B | 84172 | ENSG00000125630 | Q9H9Y6 |
| CHCHD5 | coiled-coil-helix-coiled-coil-helix domain containing 5 | 84269 | ENSG00000125611 | Q9BSY4 |
| SLC20A1 | solute carrier family 20 member 1 | 6574 | ENSG00000144136 | Q8WUM9 |
| NT5DC4 | 5'-nucleotidase domain containing 4 | 284958 | ENSG00000144130 | Q86YG4 |
| CKAP2L | cytoskeleton associated protein 2 like | 150468 | ENSG00000169607 | Q8IYA6 |
| IL1A | interleukin 1 alpha | 3552 | ENSG00000115008 | P01583 |
| IL1B | interleukin 1 beta | 3553 | ENSG00000125538 | P01584 |
| IL36 | ||||
| IL36G | interleukin 36 gamma | 56300 | ENSG00000136688 | Q9NZH8 |
| IL36A | interleukin 36 alpha | 27179 | ENSG00000136694 | Q9UHA7 |
| IL36B | interleukin 36 beta | 27177 | ENSG00000136696 | Q9NZH7 |
| IL36RN | interleukin 36 receptor antagonist | 26525 | ENSG00000136695 | Q9UBH0 |
| IL1F10 | interleukin 1 family member 10 | 84639 | ENSG00000136697 | Q8WWZ1 |
| IL1RN | interleukin 1 receptor antagonist | 3557 | ENSG00000136689 | P18510 |
| PSD4 | pleckstrin and Sec7 domain containing 4 | 23550 | ENSG00000125637 | Q8NDX1 |
Evidence
- Loading citation... [PMID: 26227573]
- Loading citation... [PMID: 24807792]
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