LHCGR luteinizing hormone/choriogonadotropin receptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: LHCGRprovided by HGNC
Official Full Name: luteinizing hormone/choriogonadotropin receptorprovided by HGNC
Primary source: HGNC:HGNC:6585
See related: Ensembl:ENSG00000138039 MIM:152790; AllianceGenome:HGNC:6585
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HHG; LHR; LCGR; LGR2; ULG5; LHRHR; LSH-R; LH/CGR; LH/CG-R
Summary: This gene encodes the receptor for both luteinizing hormone and choriogonadotropin. This receptor belongs to the G-protein coupled receptor 1 family, and its activity is mediated by G proteins which activate adenylate cyclase. Mutations in this gene result in disorders of male secondary sexual character development, including familial male precocious puberty, also known as testotoxicosis, hypogonadotropic hypogonadism, Leydig cell adenoma with precocious puberty, and male pseudohermaphtoditism with Leydig cell hypoplasia. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 2p16.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (48686774..48755724, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (48682806..48751772, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (48913913..48982863, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Widespread Distribution of Luteinizing Hormone/Choriogonadotropin Receptor in Human Juvenile Angiofibroma: Implications for a Sex-Specific Nasal Tumor.
Title: Widespread Distribution of Luteinizing Hormone/Choriogonadotropin Receptor in Human Juvenile Angiofibroma: Implications for a Sex-Specific Nasal Tumor.
Correlation between LHCGR and NR5A1 genes polymorphism and male infertility risk.
Title: Correlation between LHCGR and NR5A1 genes polymorphism and male infertility risk.
The mystery of transient pregnancy-induced cushing's syndrome: a case report and literature review highlighting GNAS somatic mutations and LHCGR overexpression.
Title: The mystery of transient pregnancy-induced cushing's syndrome: a case report and literature review highlighting GNAS somatic mutations and LHCGR overexpression.
Significance of LHCGR polymorphisms in polycystic ovary syndrome: an association study.
Title: Significance of LHCGR polymorphisms in polycystic ovary syndrome: an association study.
Gonadotropin independent sexual precocity in a Pakistani male infant from an activating mutation in LHCGR gene.
Title: Gonadotropin independent sexual precocity in a Pakistani male infant from an activating mutation in LHCGR gene.
Whole exome sequencing identifies a novel homozygous missense mutation of LHCGR gene in primary infertile women with empty follicle syndrome.
Title: Whole exome sequencing identifies a novel homozygous missense mutation of LHCGR gene in primary infertile women with empty follicle syndrome.
Post-trigger luteinizing hormone concentration to positively predict oocyte yield in the antagonist protocol and its association with genetic variants of LHCGR.
Title: Post-trigger luteinizing hormone concentration to positively predict oocyte yield in the antagonist protocol and its association with genetic variants of LHCGR.
Effect Modification of LHCGR Gene Variant (rs2293275) on Clinico-Biochemical Profile, and Levels of Luteinizing Hormone in Polycystic Ovary Syndrome Patients.
Title: Effect Modification of LHCGR Gene Variant (rs2293275) on Clinico-Biochemical Profile, and Levels of Luteinizing Hormone in Polycystic Ovary Syndrome Patients.
Luteinizing hormone receptor promotes angiogenesis in ovarian endothelial cells of Macaca fascicularis and Homo sapiensdagger.
Title: Luteinizing hormone receptor promotes angiogenesis in ovarian endothelial cells of Macaca fascicularis and Homo sapiens†.
Association analysis of LHCGR variants and polycystic ovary syndrome in Punjab: a case-control approach.
Title: Association analysis of LHCGR variants and polycystic ovary syndrome in Punjab: a case-control approach.

Submit: New GeneRIF Correction See all GeneRIFs (198)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Gonadotropin-independent familial sexual precocity MedGen: C0342549 OMIM: 176410 GeneReviews: Not available	Compare labs
Leydig cell agenesis MedGen: C0266432 OMIM: 238320 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH17720 (e-PCR)
- UniSTS:35358

LHCGR (e-PCR)
- UniSTS:266019

073WF3 (e-PCR)
- UniSTS:41113

GDB:581104 (e-PCR)
- UniSTS:157852

D2S2593 (e-PCR)
- UniSTS:20899

SHGC-142551 (e-PCR)
- UniSTS:174040

GDB:554779 (e-PCR)
- UniSTS:157660

GDB:555464 (e-PCR)
- UniSTS:157669

LHCGR (e-PCR)
- UniSTS:507368

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATPase binding	IEA Inferred from Electronic Annotation more info
enables G protein-coupled peptide receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables choriogonadotropin hormone binding	ISS Inferred from Sequence or Structural Similarity more info
enables choriogonadotropin hormone receptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables luteinizing hormone receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables luteinizing hormone receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables peptide hormone binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	TAS Traceable Author Statement more info	PubMed
involved_in activation of adenylate cyclase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in arachidonate secretion	IEA Inferred from Electronic Annotation more info
involved_in cellular response to gonadotropin stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to luteinizing hormone stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cognition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in development of secondary male sexual characteristics	IEA Inferred from Electronic Annotation more info
involved_in hormone-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in luteinizing hormone signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in luteinizing hormone signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in male genitalia development	TAS Traceable Author Statement more info	PubMed
involved_in male gonad development	IBA Inferred from Biological aspect of Ancestor more info
involved_in ovarian follicle development	IBA Inferred from Biological aspect of Ancestor more info
involved_in ovulation cycle process	IBA Inferred from Biological aspect of Ancestor more info
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of calcium ion transport into cytosol	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of calcium-mediated signaling	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of hormone biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of inositol trisphosphate biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of release of sequestered calcium ion into cytosol	IEA Inferred from Electronic Annotation more info
involved_in protein targeting to lysosome	IEA Inferred from Electronic Annotation more info
involved_in regulation of steroid hormone biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in seminiferous tubule development	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info
involved_in uterus development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in centriolar satellite	IDA Inferred from Direct Assay more info
located_in endosome	IEA Inferred from Electronic Annotation more info
located_in extracellular space	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: lutropin-choriogonadotropic hormone receptor

Names: hypergonadotropic hypogonadism; lutropin/choriogonadotropin receptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008193.2 RefSeqGene

Range

5018..73968

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000233.4 → NP_000224.2 lutropin-choriogonadotropic hormone receptor precursor

See identical proteins and their annotated locations for NP_000224.2

Status: REVIEWED

Source sequence(s)

AC073082, AC087816, BX101581, S57793

Consensus CDS

CCDS1842.1

UniProtKB/Swiss-Prot

P22888, Q14751, Q15996, Q9UEW9

UniProtKB/TrEMBL

E7ENI1

Related

ENSP00000294954.6, ENST00000294954.12

Conserved Domains (3) summary

sd00033
Location:51 → 74

LRR_RI; leucine-rich repeat [structural motif]

pfam00001
Location:376 → 623

7tm_1; 7 transmembrane receptor (rhodopsin family)

pfam13306
Location:62 → 198

LRR_5; Leucine rich repeats (6 copies)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

48686774..48755724 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047444293.1 → XP_047300249.1 lutropin-choriogonadotropic hormone receptor isoform X3
XM_047444291.1 → XP_047300247.1 lutropin-choriogonadotropic hormone receptor isoform X1
XM_047444292.1 → XP_047300248.1 lutropin-choriogonadotropic hormone receptor isoform X2
XM_017004090.1 → XP_016859579.1 lutropin-choriogonadotropic hormone receptor isoform X4

UniProtKB/TrEMBL

Q53S49

Conserved Domains (1) summary

cd15359
Location:148 → 422

7tmA_LHCGR; luteinizing hormone-choriogonadotropin receptor, member of the class A family of seven-transmembrane G protein-coupled receptors
XM_011532834.3 → XP_011531136.1 lutropin-choriogonadotropic hormone receptor isoform X6

See identical proteins and their annotated locations for XP_011531136.1

UniProtKB/TrEMBL

Q53S49

Conserved Domains (1) summary

pfam00001
Location:57 → 304

7tm_1; 7 transmembrane receptor (rhodopsin family)
XM_006712015.4 → XP_006712078.1 lutropin-choriogonadotropic hormone receptor isoform X5

See identical proteins and their annotated locations for XP_006712078.1

UniProtKB/TrEMBL

Q53S49

Conserved Domains (1) summary

pfam00001
Location:66 → 313

7tm_1; 7 transmembrane receptor (rhodopsin family)
XM_005264309.4 → XP_005264366.1 lutropin-choriogonadotropic hormone receptor isoform X6

See identical proteins and their annotated locations for XP_005264366.1

UniProtKB/TrEMBL

Q53S49

Conserved Domains (1) summary

pfam00001
Location:57 → 304

7tm_1; 7 transmembrane receptor (rhodopsin family)

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

48682806..48751772 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054342012.1 → XP_054197987.1 lutropin-choriogonadotropic hormone receptor isoform X3
XM_054342010.1 → XP_054197985.1 lutropin-choriogonadotropic hormone receptor isoform X1
XM_054342011.1 → XP_054197986.1 lutropin-choriogonadotropic hormone receptor isoform X2
XM_054342013.1 → XP_054197988.1 lutropin-choriogonadotropic hormone receptor isoform X4
XM_054342015.1 → XP_054197990.1 lutropin-choriogonadotropic hormone receptor isoform X6
XM_054342014.1 → XP_054197989.1 lutropin-choriogonadotropic hormone receptor isoform X5
XM_054342016.1 → XP_054197991.1 lutropin-choriogonadotropic hormone receptor isoform X6