2q11.1-q11.2 Copy Number Variation
Description
The 2q11.2 copy number variation syndrome can result in the loss of up to 27 protein-coding genes. Patients with 2q11.2 deletions were reported to have developmental delay, speech delay and ADHD, while subjects with 2q11.2 duplications apart from developmental delay had gastroesophageal reflux and short stature.
Genomic location
Assembly:
Coordinates:
Disorder Information from Orphanet
This CNV is not yet linked to an OrphaCode.
Molecular pathway
Gene Information
| HGNC | Gene Name | NCBI | Ensembl | UniProt |
|---|---|---|---|---|
| ADRA2B | adrenoceptor alpha 2B | 151 | ENSG00000274286 | P18089 |
| ASTL | astacin like metalloendopeptidase | 431705 | ENSG00000188886 | Q6HA08 |
| DUSP2 | dual specificity phosphatase 2 | 1844 | ENSG00000158050 | Q05923 |
| STARD7 | StAR related lipid transfer domain containing 7 | 56910 | ENSG00000084090 | Q9NQZ5 |
| TMEM127 | transmembrane protein 127 | 55654 | ENSG00000135956 | O75204 |
| CIAO1 | cytosolic iron-sulfur assembly component 1 | 9391 | ENSG00000144021 | O76071 |
| SNRNP200 | small nuclear ribonucleoprotein U5 subunit 200 | 23020 | ENSG00000144028 | O75643 |
| ITPRIPL1 | ITPRIP like 1 | 150771 | ENSG00000198885 | Q6GPH6 |
| NCAPH | non-SMC condensin I complex subunit H | 23397 | ENSG00000121152 | Q15003 |
| NEURL3 | neuralized E3 ubiquitin protein ligase 3 | 93082 | ENSG00000163121 | Q96EH8 |
| ARID5A | AT-rich interaction domain 5A | 10865 | ENSG00000196843 | Q03989 |
| KANSL3 | KAT8 regulatory NSL complex subunit 3 | 55683 | ENSG00000114982 | Q9P2N6 |
| FER1L5 | fer-1 like family member 5 | 90342 | ENSG00000249715 | A0AVI2 |
| LMAN2L | lectin, mannose binding 2 like | 81562 | ENSG00000114988 | Q9H0V9 |
| CNNM4 | cyclin and CBS domain divalent metal cation transport mediator 4 | 26504 | ENSG00000158158 | Q6P4Q7 |
| CNNM3 | cyclin and CBS domain divalent metal cation transport mediator 3 | 26505 | ENSG00000168763 | Q8NE01 |
| ANKRD23 | ankyrin repeat domain 23 | 200539 | ENSG00000163126 | Q86SG2 |
| ANKRD39 | ankyrin repeat domain 39 | 51239 | ENSG00000213337 | Q53RE8 |
| SEMA4C | semaphorin 4C | 54910 | ENSG00000168758 | Q9C0C4 |
| FAM178B | family with sequence similarity 178 member B | 51252 | ENSG00000168754 | Q8IXR5 |
Evidence
- Loading citation... [PMID: 26227573]
- Loading citation... [PMID: 25217958]