6q16 copy number variation (Homo sapiens)

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1, 233333333INSRAGRPGHRLINSSIM1ARNTBDNFMC4RLEPRNTRK2POMCLEPNPYGHSRLeptin / melanocortin pathway


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.

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Ontology Terms

 

Bibliography

  1. 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
  2. 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
  3. Mutch DM, Clément K; ''Unraveling the genetics of human obesity.''; PLoS Genet, 2006 PubMed Europe PMC Scholia

History

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CompareRevisionActionTimeUserComment
134427view23:25, 21 July 2024EweitzUpgrade pathway node
127098view11:35, 2 August 2023FehrhartOntology Term : 'Down syndrome' added !
127097view11:34, 2 August 2023FehrhartOntology Term : 'melanocortin system pathway' added !
127096view11:34, 2 August 2023FehrhartOntology Term : 'leptin system pathway' added !
127095view11:34, 2 August 2023FehrhartOntology Term : 'disease pathway' added !
127094view11:32, 2 August 2023FehrhartNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
AGRPGeneProductENSG00000159723 (Ensembl)
ARNTGeneProductENSG00000143437 (Ensembl)
BDNFGeneProductENSG00000176697 (Ensembl)
GHRLGeneProductENSG00000157017 (Ensembl)
GHSRGeneProductENSG00000121853 (Ensembl)
INSGeneProductENSG00000254647 (Ensembl)
INSRGeneProductENSG00000171105 (Ensembl)
LEPGeneProductENSG00000174697 (Ensembl)
LEPRGeneProductENSG00000116678 (Ensembl)
Leptin / melanocortin pathwayPathwayWP2034 (WikiPathways)
MC4RGeneProductENSG00000166603 (Ensembl)
NPYGeneProductENSG00000122585 (Ensembl)
NTRK2GeneProductENSG00000148053 (Ensembl)
POMCGeneProductENSG00000115138 (Ensembl)
SIM1GeneProductENSG00000112246 (Ensembl)

Annotated Interactions

No annotated interactions

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