Hs03388947_cn

• Gene Symbol: POMC
• Assay Reference Genome Location: Chr.2:25163031 on build GRCh38
• Cytoband: 2p23.3

Target Gene Details

• Entrez Gene ID: 5443
• Gene Name: proopiomelanocortin
• Gene Aliases: ACTH, CLIP, LPH, MSH, NPP, POC
• Location: Chr.2:25160853-25168851 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
POMC	NM_000939.3			NP_000930.1
	NM_001035256.2			NP_001030333.1
	NM_001319204.1			NP_001306133.1
	NM_001319205.1			NP_001306134.1
	AI341269.1
	BC065832.1			AAH65832.1
	BT019918.1			AAV38721.1
	CB988233.1
	CD106051.1
	CD108235.1
	CR541826.1			CAG46625.1
	DQ884404.1
	M38297.1			AAA60140.1
	S76492.1			AAC60644.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv57n68	Chr.2:25041473 - 25257024 on Build GRCh38	Loss	EFR3B LINC01381 POMC DNMT3A
esv33372	Chr.2:25064335 - 25385947 on Build GRCh38	Loss	EFR3B LINC01381 POMC MIR1301 DTNB DNMT3A
nsv1008732	Chr.2:24907673 - 25349661 on Build GRCh38	Loss	EFR3B LINC01381 POMC ADCY3 MIR1301 DNAJC27 DNMT3A DNAJC27-AS1

More Information

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

Gene Ontology Categories:

Process(es)

generation of precursor metabolites and energy
signal transduction
neuropeptide signaling pathway
cell-cell signaling
regulation of blood pressure
peptide hormone processing
regulation of appetite
negative regulation of tumor necrosis factor production
cellular pigmentation
glucose homeostasis
positive regulation of transcription from RNA polymerase II promoter
regulation of glycogen metabolic process
regulation of corticosterone secretion

Function(s)

G-protein coupled receptor binding
receptor binding
hormone activity
neuropeptide hormone activity
type 3 melanocortin receptor binding
type 4 melanocortin receptor binding
type 1 melanocortin receptor binding