LHCGR - luteinizing hormone/choriogonadotropin receptor Gene
Also Known as HHG; LHR; LCGR; LGR2; ULG5; LHRHR; LSH-R; LH/CGR; LH/CG-R
Species: Homo sapiens
About LHCGR
This gene has 6 transcripts (splice variants), 241 orthologues, 2 paralogues and is associated with 6 phenotypes. Low expression observed in reference dataset.
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]
LHCGR Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_000233.4 | NP_000224.2 | lutropin-choriogonadotropic hormone receptor precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables luteinizing hormone receptor activity |
IMP
IMP: Inferred from mutant phenotype
|
11847099 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in cellular response to luteinizing hormone stimulus |
IMP
IMP: Inferred from mutant phenotype
|
11847099 | GOA |
| involved in cognition |
IMP
IMP: Inferred from mutant phenotype
|
23227193 | GOA |
| involved in luteinizing hormone signaling pathway |
IMP
IMP: Inferred from mutant phenotype
|
11847099 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
11847099 | GOA |
LHCGR Protein Structure
LRR_5: Leucine rich repeats (6 copies) (62 - 132)
LRR_5: Leucine rich repeats (6 copies) (160 - 240)
7tm_1: 7 transmembrane receptor (rhodopsin family) (376 - 623)
- 0
- 200
- 400
- 600
- 699 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
lutropin-choriogonadotropic hormone receptor |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Precocious Puberty, Male-Limited |
|
|
| Leydig Cell Hypoplasia, Type I |
|
|
| Leydig Cell Hypoplasia Type Ii |
|
|
| Pseudohermaphroditism |
|
|
| Leydig Cell Hypoplasia |
|
|
| Precocious Puberty |
|
|
| Amenorrhea |
|
|
| Hypogonadism |
|
|
| Infertility |
|
|
| Hypogonadism, Male |
|
|
| 46 Xx Gonadal Dysgenesis |
|
|
| Adenoma |
|
|
| Leydig Cell Tumor |
|
|
| Ovarian Hyperstimulation Syndrome |
|
|
| Polycystic Ovary Syndrome |
|
|
| Penis Agenesis |
|
|
| Hypogonadotropic Hypogonadism |
|
|
| Hypospadias |
|
|
| Lactocele |
|
|
| Ovarian Disease |
|
|
| Conn'S Syndrome |
|
|
| Leiomyomatosis |
|
|
| Blount'S Disease |
|
|
| Anovulation |
|
|
| Spermatogenic Failure |
|
|
| Premature Menopause |
|
|
| Myopathy, Centronuclear, 5 |
|
|
| Sex Cord-Gonadal Stromal Tumor |
|
|
| Disorder Of Sexual Development |
|
|
| Complete Androgen Insensitivity Syndrome |
|
|
| Diaphragmatic Eventration |
|
|
| Persistent Mullerian Duct Syndrome |
|
|
| 46,Xy Sex Reversal |
|
|
| Lipoid Congenital Adrenal Hyperplasia |
|
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| Testicular Disease |
|
|
| Cryptorchidism, Unilateral Or Bilateral |
|
|
| Testicular Germ Cell Cancer |
|
|
| Ovarian Cancer |
|
|
| Kallmann Syndrome |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | LHCGR | VGNC | VGNC:81112 |
| Mus musculus | LHCGR | MGD | MGI:96783 |
| Macaca mulatta | LHCGR | VGNC | VGNC:106179 |
| Rattus norvegicus | LHCGR | RGD | RGD:3007 |
| Canis familiaris | LHCGR | VGNC | VGNC:54524 |
| Others | LHCGR | NCBI |