6q16 copy number variation (Homo sapiens)
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Description
SIM1 is the only gene found in the region 6q12 (chr6:100,836,750-100,911,811). A deletion or loss of function results in developmental delay and neuropsyschiatric disorders as well as severe obesity. SIM1 is a transcription factor responsible for several processes in neurogenesis and is stimulated by the leptin-melanocortin pathway.
Quality Tags
Ontology Terms
Saving...Bibliography
- Woods SL, Whitelaw ML; ''Differential activities of murine single minded 1 (SIM1) and SIM2 on a hypoxic response element. Cross-talk between basic helix-loop-helix/per-Arnt-Sim homology transcription factors.''; J Biol Chem, 2002 PubMed Europe PMC Scholia
- Probst MR, Fan CM, Tessier-Lavigne M, Hankinson O; ''Two murine homologs of the Drosophila single-minded protein that interact with the mouse aryl hydrocarbon receptor nuclear translocator protein.''; J Biol Chem, 1997 PubMed Europe PMC Scholia
- Mutch DM, Clément K; ''Unraveling the genetics of human obesity.''; PLoS Genet, 2006 PubMed Europe PMC Scholia
History
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External references
DataNodes
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| Name | Type | Database reference | Comment |
|---|---|---|---|
| AGRP | GeneProduct | ENSG00000159723 (Ensembl)  | |
| ARNT | GeneProduct | ENSG00000143437 (Ensembl) | |
| BDNF | GeneProduct | ENSG00000176697 (Ensembl) | |
| GHRL | GeneProduct | ENSG00000157017 (Ensembl) | |
| GHSR | GeneProduct | ENSG00000121853 (Ensembl) | |
| INS | GeneProduct | ENSG00000254647 (Ensembl) | |
| INSR | GeneProduct | ENSG00000171105 (Ensembl) | |
| LEP | GeneProduct | ENSG00000174697 (Ensembl) | |
| LEPR | GeneProduct | ENSG00000116678 (Ensembl) | |
| MC4R | GeneProduct | ENSG00000166603 (Ensembl) | |
| NPY | GeneProduct | ENSG00000122585 (Ensembl) | |
| NTRK2 | GeneProduct | ENSG00000148053 (Ensembl) | |
| POMC | GeneProduct | ENSG00000115138 (Ensembl) | |
| SIM1 | GeneProduct | ENSG00000112246 (Ensembl) |
Annotated Interactions
No annotated interactions
