Hs01291459_cn

• Gene Symbol: MC2R
• Assay Reference Genome Location: Chr.18:13882552 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 Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MC2R	NM_000529.2	2	3144	NP_000520.1
	NM_001291911.1	2	3173	NP_001278840.1
	XM_017025781.1	3	3766	XP_016881270.1
	Y10259.1	1	2076

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 ZNF519 ANKRD20A5P
nsv576529	Chr.18:13606185 - 14150725 on Build GRCh38	Gain	FAM210A MC2R RNMT LDLRAD4 MC5R ZNF519 MIR4526

More Information

• Set Membership: Intragenic, 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