6q16 copy number variation (WP5400)

Homo sapiens

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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.

Authors

Friederike Ehrhart

Activity

last edited

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Organisms

Homo sapiens

Communities

Annotations

Pathway Ontology

leptin system pathway disease pathway melanocortin system pathway

Disease Ontology

Down syndrome

Participants
Query Drugst.One

Label Type Compact URI Comment
NPY GeneProduct ensembl:ENSG00000122585
ARNT GeneProduct ensembl:ENSG00000143437
LEP GeneProduct ensembl:ENSG00000174697
SIM1 GeneProduct ensembl:ENSG00000112246
GHRL GeneProduct ensembl:ENSG00000157017
MC4R GeneProduct ensembl:ENSG00000166603
POMC GeneProduct ensembl:ENSG00000115138
BDNF GeneProduct ensembl:ENSG00000176697
INSR GeneProduct ensembl:ENSG00000171105
AGRP GeneProduct ensembl:ENSG00000159723
GHSR GeneProduct ensembl:ENSG00000121853
INS GeneProduct ensembl:ENSG00000254647
NTRK2 GeneProduct ensembl:ENSG00000148053
LEPR GeneProduct ensembl:ENSG00000116678

References

  1. Two murine homologs of the Drosophila single-minded protein that interact with the mouse aryl hydrocarbon receptor nuclear translocator protein. Probst MR, Fan CM, Tessier-Lavigne M, Hankinson O. J Biol Chem. 1997 Feb 14;272(7):4451–7. PubMed Europe PMC Scholia
  2. 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. Woods SL, Whitelaw ML. J Biol Chem. 2002 Mar 22;277(12):10236–43. PubMed Europe PMC Scholia
  3. Unraveling the genetics of human obesity. Mutch DM, Clément K. PLoS Genet. 2006 Dec 29;2(12):e188. PubMed Europe PMC Scholia