ADHDgene Database

Gene Report

Basic Info

Approved Symbol	MC2R
Symbol Alias	ACTHR
Approved Name	melanocortin 2 receptor (adrenocorticotropic hormone)
Location	18p11.2
Position	chr18:13882043-13915535, -
External Links	HGNC: 6930 Entrez Gene: 4158 Ensembl: ENSG00000185231 UCSC: uc002ksp.1
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Elia[2010]_199	chr18:13769215-13951709 (NCBI Build 35 (hg17))	182495	18p11.21	Duplication	Paternal

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 8)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005887	integral to plasma membrane	Cellular Component	TAS[9175632]	220
GO:0005886	plasma membrane	Cellular Component		772
GO:0007187	G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	Biological Process	TAS[9175632]	18
GO:0007186	G-protein coupled receptor signaling pathway	Biological Process	TAS[1325670]	72
GO:0030819	positive regulation of cAMP biosynthetic process	Biological Process	IDA[19329486]	7
GO:0004977	melanocortin receptor activity	Molecular Function	TAS[1325670]	4
GO:0005515	protein binding	Molecular Function	IPI[19329486]	910
GO:0004978	corticotropin receptor activity	Molecular Function		1

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04080	Neuroactive ligand-receptor interaction	93

Genes shared at least 5 GO terms with MC2R (count: 4)

Gene Symbol	Pathway Count	Pathway List
MC1R	6	integral to plasma membrane; plasma membrane; G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger; positive regulation of cAMP biosynthetic process; melanocortin receptor activity; protein binding;
MC5R	6	integral to plasma membrane; plasma membrane; G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger; positive regulation of cAMP biosynthetic process; melanocortin receptor activity; protein binding;
ABCA1	5	integral to plasma membrane; plasma membrane; G-protein coupled receptor signaling pathway; positive regulation of cAMP biosynthetic process; protein binding;
DRD1	5	integral to plasma membrane; plasma membrane; G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger; positive regulation of cAMP biosynthetic process; protein binding;

Genes shared at least 2 KEGG pathways with MC2R (count: 0)

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Region: chr18:13882043..13915535 View in gBrowse