Hs06441663_cn

• Gene Symbol: MC2R
• Assay Reference Genome Location: Chr.18:13896276 on build GRCh38
• Cytoband: 18p11.21

Target Gene Details

• Entrez Gene ID: 4158
• Gene Name: melanocortin 2 receptor
• Gene Aliases: ACTHR
• Location: Chr.18:13882042-13915707 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MC2R	NM_000529.2			NP_000520.1
	NM_001291911.1			NP_001278840.1
	XM_017025781.1			XP_016881270.1
	AK289381.1
	AK315319.1
	BC094710.1			AAH94710.1
	BP196054.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1066142	Chr.18:13801920 - 14221947 on Build GRCh38	Loss	MC2R MC5R ANKRD20A5P ZNF519
nsv576529	Chr.18:13606185 - 14150725 on Build GRCh38	Gain	MC2R MC5R RNMT LDLRAD4 MIR4526 ZNF519 FAM210A

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

G-protein coupled receptor

Gene Ontology Categories:

Process(es)

placenta development
G-protein coupled receptor signaling pathway
G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger
neuropeptide signaling pathway
positive regulation of cAMP biosynthetic process

Function(s)

melanocortin receptor activity
corticotropin receptor activity
protein binding