2q11.1-q11.2 Copy Number Variation
Description
Genomic location GRCh37/hg19
Disorder Information from Orphanet
This CNV is not yet linked to an OrphaCode.
Interactive Pathway Viewer
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 |