• Gene id: 3973

Gene Summary

• Gene Symbol: LHCGR   Gene   UCSC   Ensembl
• Aliases: HHG, LCGR, LGR2, LH/CG-R, LH/CGR, LHR, LHRHR, LSH-R, ULG5
• Gene name: luteinizing hormone/choriogonadotropin receptor
• Alternate names: lutropin-choriogonadotropic hormone receptor, hypergonadotropic hypogonadism, lutropin/choriogonadotropin receptor,
• Gene location: 2p16.3 (48755740: 48686773)     Exons: 14     NC_000002.12
• Gene summary(Entrez): 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 resul
• OMIM: 152790

SNPs

rs7371084

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48712814T>C
NC_000002.11   g.48939953T>C
NG_033050.2   g.187890T>C
NG_033050.1   g.187890T>C
NG_008193.2   g.47928A>G
NG_008193.1   g.47928A>G|SEQ=[T/C]|GENE=LHCGR
STON1-GTF2A1L   286749

rs68073206

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48721568A>C
NC_000002.11   g.48948707A>C
NG_033050.2   g.196644A>C
NG_033050.1   g.196644A>C
NG_008193.2   g.39174T>G
NG_008193.1   g.39174T>G|SEQ=[A/C]|GENE=LHCGR
STON1-GTF2A1L   286749

rs4539842

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48755625A>T
NC_000002.11   g.48982764A>T
NG_033050.2   g.230701A>T
NG_033050.1   g.230701A>T
NG_008193.2   g.5117T>A
NG_008193.1   g.5117T>A
NM_000233.4   c.47T>A
NM_000233.3   c.47T>A
NP_000224.2   p.Leu16Gln|SEQ=[A/T]|GENE=LHCGR
STON1-GTF2A1L   2

rs2293275

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48694236T>C
NC_000002.12   g.48694236T>G
NC_000002.11   g.48921375T>C
NC_000002.11   g.48921375T>G
NG_033050.2   g.169312T>C
NG_033050.2   g.169312T>G
NG_033050.1   g.169312T>C
NG_033050.1   g.169312T>G
NG_008193.2   g.66506A>G
NG_008193.2   g.66506A>C
  

rs4597581

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48731456A>G
NC_000002.11   g.48958595A>G
NG_033050.2   g.206532A>G
NG_033050.1   g.206532A>G
NG_008193.2   g.29286T>C
NG_008193.1   g.29286T>C|SEQ=[A/G]|GENE=LHCGR
STON1-GTF2A1L   286749

rs4953617

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48726070C>G
NC_000002.12   g.48726070C>T
NC_000002.11   g.48953209C>G
NC_000002.11   g.48953209C>T
NG_033050.2   g.201146C>G
NG_033050.2   g.201146C>T
NG_033050.1   g.201146C>G
NG_033050.1   g.201146C>T
NG_008193.2   g.34672G>C
NG_008193.2   g.34672G>A
  

Protein Summary

• Protein general information: P22888  
  • Name: Lutropin choriogonadotropic hormone receptor (LH/CG R) (Luteinizing hormone receptor) (LHR) (LSH R)
  • Length: 699  
  • Mass: 78,643
  • Tissue specificity: Expressed at high levels in testis, trachea and fetal lung, and at lower levels in ovary, pituitary, adult lung, fetal brain and fetal kidney. {ECO
• Sequence:

  MKQRFSALQLLKLLLLLQPPLPRALREALCPEPCNCVPDGALRCPGPTAGLTRLSLAYLPVKVIPSQAFRGLNEV
  IKIEISQIDSLERIEANAFDNLLNLSEILIQNTKNLRYIEPGAFINLPRLKYLSICNTGIRKFPDVTKVFSSESN
  FILEICDNLHITTIPGNAFQGMNNESVTLKLYGNGFEEVQSHAFNGTTLTSLELKENVHLEKMHNGAFRGATGPK
  TLDISSTKLQALPSYGLESIQRLIATSSYSLKKLPSRETFVNLLEATLTYPSHCCAFRNLPTKEQNFSHSISENF
  SKQCESTVRKVNNKTLYSSMLAESELSGWDYEYGFCLPKTPRCAPEPDAFNPCEDIMGYDFLRVLIWLINILAIM
  GNMTVLFVLLTSRYKLTVPRFLMCNLSFADFCMGLYLLLIASVDSQTKGQYYNHAIDWQTGSGCSTAGFFTVFAS
  ELSVYTLTVITLERWHTITYAIHLDQKLRLRHAILIMLGGWLFSSLIAMLPLVGVSNYMKVSICFPMDVETTLSQ
  VYILTILILNVVAFFIICACYIKIYFAVRNPELMATNKDTKIAKKMAILIFTDFTCMAPISFFAISAAFKVPLIT
  VTNSKVLLVLFYPINSCANPFLYAIFTKTFQRDFFLLLSKFGCCKRRAELYRRKDFSAYTSNCKNGFTGSNKPSQ
  STLKLSTLHCQGTALLDKTRYTEC

• Structural information:
  • Protein Domains: LRRNT. (27-66)
  • Interpro: IPR000276  IPR017452  IPR002131  IPR026906  IPR032675   IPR002273  IPR034298  
  • Prosite: PS00237 PS50262
  • PDB: 1LUT 1XUL
  • PDBsum: 1LUT 1XUL
  • STRING: ENSP00000294954
• Other Databases: GeneCards:  LHCGR  Malacards:  LHCGR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004964	luteinizing hormone receptor activity	IBA	molecular function
GO:0005768	endosome	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:0007186	G-protein coupled receptor signaling pathway	TAS	biological process
GO:0007187	G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	TAS	biological process
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	IBA	biological process
GO:0007190	activation of adenylate cyclase activity	ISS	biological process
GO:0007190	activation of adenylate cyclase activity	IBA	biological process
GO:0007200	phospholipase C-activating G-protein coupled receptor signaling pathway	ISS	biological process
GO:0007200	phospholipase C-activating G-protein coupled receptor signaling pathway	IBA	biological process
GO:0008528	G-protein coupled peptide receptor activity	IBA	molecular function
GO:0008584	male gonad development	TAS	biological process
GO:0009755	hormone-mediated signaling pathway	IBA	biological process
GO:0022602	ovulation cycle process	IBA	biological process
GO:0030539	male genitalia development	TAS	biological process
GO:0032962	positive regulation of inositol trisphosphate biosynthetic process	ISS	biological process
GO:0035472	choriogonadotropin hormone receptor activity	ISS	molecular function
GO:0038106	choriogonadotropin hormone binding	ISS	molecular function
GO:0042700	luteinizing hormone signaling pathway	IEA	biological process
GO:0043950	positive regulation of cAMP-mediated signaling	ISS	biological process
GO:0050890	cognition	IMP	biological process
GO:0071371	cellular response to gonadotropin stimulus	ISS	biological process
GO:0004871	signal transducer activity	IEA	molecular function
GO:0004930	G-protein coupled receptor activity	IEA	molecular function
GO:0004930	G-protein coupled receptor activity	IEA	molecular function
GO:0004964	luteinizing hormone receptor activity	IEA	molecular function
GO:0004964	luteinizing hormone receptor activity	IBA	molecular function
GO:0005768	endosome	TAS	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0007186	G-protein coupled receptor signaling pathway	IEA	biological process
GO:0007186	G-protein coupled receptor signaling pathway	IEA	biological process
GO:0007186	G-protein coupled receptor signaling pathway	TAS	biological process
GO:0007187	G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	TAS	biological process
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	IBA	biological process
GO:0007190	activation of adenylate cyclase activity	ISS	biological process
GO:0007190	activation of adenylate cyclase activity	IBA	biological process
GO:0007200	phospholipase C-activating G-protein coupled receptor signaling pathway	ISS	biological process
GO:0007200	phospholipase C-activating G-protein coupled receptor signaling pathway	IBA	biological process
GO:0008528	G-protein coupled peptide receptor activity	IBA	molecular function
GO:0008584	male gonad development	TAS	biological process
GO:0009755	hormone-mediated signaling pathway	IBA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016500	protein-hormone receptor activity	IEA	molecular function
GO:0022602	ovulation cycle process	IBA	biological process
GO:0030539	male genitalia development	TAS	biological process
GO:0032962	positive regulation of inositol trisphosphate biosynthetic process	ISS	biological process
GO:0035472	choriogonadotropin hormone receptor activity	ISS	molecular function
GO:0038106	choriogonadotropin hormone binding	ISS	molecular function
GO:0042700	luteinizing hormone signaling pathway	IEA	biological process
GO:0043950	positive regulation of cAMP-mediated signaling	ISS	biological process
GO:0050890	cognition	IMP	biological process
GO:0071371	cellular response to gonadotropin stimulus	ISS	biological process
GO:0004964	luteinizing hormone receptor activity	IBA	molecular function
GO:0005768	endosome	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007186	G-protein coupled receptor signaling pathway	TAS	biological process
GO:0007187	G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	TAS	biological process
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	IBA	biological process
GO:0007190	activation of adenylate cyclase activity	ISS	biological process
GO:0007190	activation of adenylate cyclase activity	IBA	biological process
GO:0007200	phospholipase C-activating G-protein coupled receptor signaling pathway	ISS	biological process
GO:0007200	phospholipase C-activating G-protein coupled receptor signaling pathway	IBA	biological process
GO:0008528	G-protein coupled peptide receptor activity	IBA	molecular function
GO:0008584	male gonad development	TAS	biological process
GO:0009755	hormone-mediated signaling pathway	IBA	biological process
GO:0022602	ovulation cycle process	IBA	biological process
GO:0030539	male genitalia development	TAS	biological process
GO:0032962	positive regulation of inositol trisphosphate biosynthetic process	ISS	biological process
GO:0035472	choriogonadotropin hormone receptor activity	ISS	molecular function
GO:0038106	choriogonadotropin hormone binding	ISS	molecular function
GO:0043950	positive regulation of cAMP-mediated signaling	ISS	biological process
GO:0050890	cognition	IMP	biological process
GO:0071371	cellular response to gonadotropin stimulus	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04020	Calcium signaling pathway
hsa04080	Neuroactive ligand-receptor interaction
hsa04913	Ovarian steroidogenesis
hsa04917	Prolactin signaling pathway

Diseases

Associated diseases	References
Cancer	GAD: 19574343
Cancer (epithelial ovarian)	GAD: 19064572
Cancer (prostate)	GAD: 19574343
Cancer (testicular germ cell)	MIK: 22245602
Cancer (breast)	GAD: 12679452
Hyperandrogenism	GAD: 19403562
Hyperparathyroidism	GAD: 20424473
Bone diseases	GAD: 19453261
Alzheimer's disease	GAD: 19141999
Autism	GAD: 19598235
Psychological disorders	GAD: 19086053
Several psychiatric disorders	GAD: 19086053
Cryptorchidism	GAD: 18300940
Familial male-limited precocious puberty	GAD: 8829636
Polycystic ovary syndrome (PCOS)	GAD: 21151128
Premature ovarian failure (POF)	GAD: 19508998
Poor oocyte yield	INFBASE: 22369774
Recurrent ovarian cyst formation	INFBASE: 22369774
Diminished ovarian reserve (DOR)	INFBASE: 22355044
Empty follicle syndrome	INFBASE: 23044874
Endometriosis	INFBASE: 18579845
Female infertility	INFBASE: 22369774
Functional ovarian cysts	INFBASE: 18508780
Hypogonadotropic hypogonadism	INFBASE: 18508780
Slow ovarian response	INFBASE: 26663062
Ectopic endometrial implants	INFBASE: 1400884
Endometriosis	INFBASE: 25935136
Female infertility	INFBASE: 9626144
Primary amenorrhea	INFBASE: 9626144
Ovarian hyperstimulation syndrome (OHSS)	INFBASE: 23883350
Ovarian hyperstimulation syndrome (OHSS)	INFBASE: 17074323
Polycystic ovary syndrome (PCOS)	INFBASE: 11238527
Oligoamenorrhea	INFBASE: 9514160
Malfunction of oocytes	INFBASE: 22260850
Male factor infertility	MIK: 18508780
Leydig cell dysfunction	MIK: 11857565
Leydig cell dysfunction	MIK: 19551906
Maldescended testes	MIK: 18300940
Leydig cell dysfunction	MIK: 8843415
Male factor infertility	MIK: 23884663
Leydig cell dysfunction	MIK: 9626653
Male pseudohermaphroditism	MIK: 9514160
Male factor infertility	MIK: 16433250
Low fertilization capacity	MIK: 22260850
Oligozoospermia	MIK: 18508780
Pseudohermaphroditism	MIK: 16433250
Pseudohermaphroditism	MIK: 16433250
Male pseudohermaphroditism	MIK: 15607529
Male pseudohermaphroditism	MIK: 8843415
Leydig cell dysfunction	OMIM: 152790
Leydig cell dysfunction	OMIM: 152790
Leydig cell dysfunction	OMIM: 152790
Luteinizing hormone resistance	OMIM: 152790
Precocious puberty	OMIM: 152790
Female infertility	INFBASE: 22546001
Amenorrhoea	INFBASE: 22369774
Abortion	GAD: 20716560
Adenomyosis	INFBASE: 7680356
Female infertility	INFBASE: 7680356
46,XY disorder of sex development	MIK: 21720050
Associated with spermatogenesis and epigenetic regulation	MIK: 21674046
Non obstructive azoospermia	MIK: 24012201
Teratozoospermia	MIK: 17327269
Testicular germ cell cancer	MIK: 22245602

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
23884663	Infertility	Glu354Lys, Ile374Thr, Val144Ile		14 infertile	Male infertility
23232123	Infertility	exon 6A (c.580 A>G) and exon 11 (c.1244T>C)		1 patient	Male infertility
22382642	Infertility	LHR splice variants (735 bp, 621 bp)		40 ICSI patients	Male infertility
22002533	Infertility	IVS6-3C>A (-3 acceptor splice site of intron 6 of LHR)		1 patient	Male infertility
18508780	Infertility	omozygous mutation G-->A at position -1 at the intron 10-exon 11 boundary of the LHR gene ->(Delta Tyr(317)-Ser(324))	Portuge se	3 patients (1 male, 3female)	Male infertility, Female infertility
18433292	Infertility	g ATG (Met) 599 ACG (Thr) in exon1, A653G, T748G noncoding region of exon 6A, GAG(Glu) 557 GCG(Ala) within exon 6A		57 (16 patients, 41 controls)	Male infertility
18300940	Infertility	insLQ polymorphism in exon 1 (rs4539842), N291S SNP in exon 10 (rs12470652), S312N SNP in exon 10 (rs2293275)		826 (278 patients with maldescended testes, 277 infertile men without maldescensus and 271 controls)	Male infertility
11857565	Infertility	GATto CAT -> D578H		2 patients	Male infertility
10852464	Infertility	1747 in intron 9 and the second breakpoint at position 7834, within intron 10	Turkish	1 patient	Male infertility
9626653	Infertility	I625K in TMD 7 of the LHR	Netherl ands	3 patients	Male infertility
9514160	Infertility	Deletion of 1822-1827 nucleotides ->Deletion of Leu-608, Val-609		2 patients	Male infertility, Female infertility
22245602	Testicular germ cell cancer	ESR2 (rs1256063), LHCGR (rs4597581, rs4953617, rs7371084), ESR1 (rs9397080)		581 (367 patients and 214 controls)	Male infertility	ESR1 ESR2 LHCGR
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Associated with spermatogenesis and epigenetic regulation			18	Male infertility	GSE26881
21720050	46,XY disorder of sex development	p.Cys131Arg			Male infertility
7719343	Male pseudohermaphroditism	Ala593Pro		2 Male pseudohermaphroditism	Male infertility
18508780	Male hypogonadism, female infertility	Delta Tyr(317)-Ser(324), LHR ( homozygous mutation G-->A at position -1 at the intron 10-exon 11 boundary)		2 (1 with male hypogonadism, 1 female infertility)	Male infertility, Female infertility
16433250	Leydig cell hypoplasia, pseudohermaphrotidism	T1121C, C1175T, I374T, T392I		1	Male infertility
15472221	Leydig cell hypoplasia	LHR-V144F		1 46,XY girl	Male infertility
9626144	Female external genitalia, primary amenorrhea, lack of breast development	46XY, 46XX, Male pseudohermaphroditism		2 primary amenorrhea, lack of breast development	Male infertility
8843415	Leydig cell hypoplasia (LCH), male pseudohermaphroditism	hLHR in a patient with LCH: deletion of exon 8 (delta Exon 8), A872G transition resulting in Asn291Ser substitution in the extracellular domain, and C1847A transversion resulting in Ser616Tyr substitution inthe seventh TM helix.		1  Leydig cell hypoplasia (LCH), male pseudohermaphroditism	Male infertility, Female infertility