Hs00652997_cn

• Gene Symbol: LHCGR
• Assay Reference Genome Location: Chr.2:48688523 on build GRCh38
• Cytoband: 2p16.3

Target Gene Details

• Entrez Gene ID: 3973
• Gene Name: luteinizing hormone/choriogonadotropin receptor
• Gene Aliases: HHG, LCGR, LGR2, LH/CG-R, LH/CGR, LHR, LHRHR, LSH-R, ULG5
• Location: Chr.2:48686774-48755741 on Build GRCh38
• Assay Gene Location: Within Exon 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LHCGR	NM_000233.3	11	1344	NP_000224.2
	XM_005264309.3	2	1070	XP_005264366.1
	XM_006712015.3	2	1300	XP_006712078.1
	XM_011532828.1	10	1252	XP_011531130.1
	XM_011532831.1	7	975	XP_011531133.1
	XM_011532834.2	2	642	XP_011531136.1
	XM_017004089.1	8	2846	XP_016859578.1
	XM_017004090.1	5	1119	XP_016859579.1
	AK123498.1
	M63108.1	11	1282	AAA59515.1
	M73746.1	11	1267	AAA70231.1
	S57793.1	11	1274	AAB19917.2

Target Gene Details

• Entrez Gene ID: 286749
• Gene Name: STON1-GTF2A1L readthrough
• Gene Aliases: SALF
• Location: Chr.2:48529925-48776517 on Build GRCh38
• Assay Gene Location: Within Intron 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
STON1-GTF2A1L	NM_001198593.1			NP_001185522.1
	AK309740.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1002793	Chr.2:48544081 - 49239411 on Build GRCh38	Gain	STON1-GTF2A1L MIR548BA LHCGR STON1 GTF2A1L FSHR
nsv833992	Chr.2:48587084 - 48770898 on Build GRCh38	Gain	STON1-GTF2A1L LHCGR STON1 GTF2A1L

More Information

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

Panther Classification:

Molecular Function -

G-protein coupled receptor, membrane traffic protein

Gene Ontology Categories:

Process(es)

G-protein coupled receptor signaling pathway
G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger
adenylate cyclase-activating G-protein coupled receptor signaling pathway
activation of adenylate cyclase activity
phospholipase C-activating G-protein coupled receptor signaling pathway
male gonad development
hormone-mediated signaling pathway
ovulation cycle process
male genitalia development
positive regulation of inositol trisphosphate biosynthetic process
luteinizing hormone signaling pathway
positive regulation of cAMP-mediated signaling
cognition
cellular response to gonadotropin stimulus

Function(s)

luteinizing hormone receptor activity
G-protein coupled peptide receptor activity
choriogonadotropin hormone receptor activity
choriogonadotropin hormone binding