6q16 copy number variation (Homo sapiens)

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3333331, 233Leptin/Melanocortin PathwayLEPRINSRBDNFNPYGHRLMC4RNTRK2AGRPARNTSIM1INSPOMCLEPGHSR


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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Quality Tags

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)
MC4RGeneProductENSG00000166603 (Ensembl)
NPYGeneProductENSG00000122585 (Ensembl)
NTRK2GeneProductENSG00000148053 (Ensembl)
POMCGeneProductENSG00000115138 (Ensembl)
SIM1GeneProductENSG00000112246 (Ensembl)

Annotated Interactions

No annotated interactions

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