Details for: LHCGR

Gene ID: 3973

Symbol: LHCGR

Ensembl ID: ENSG00000138039

Description: luteinizing hormone/choriogonadotropin receptor

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.8684
    Cell Significance Index: 23.2700
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.8091
    Cell Significance Index: 13.8300
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.6474
    Cell Significance Index: 3.2300
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: 0.5701
    Cell Significance Index: 8.3100
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.3731
    Cell Significance Index: 4.1700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.2563
    Cell Significance Index: 14.3900
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.2325
    Cell Significance Index: 3.2700
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.1620
    Cell Significance Index: 1.9200
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.0613
    Cell Significance Index: 0.7600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.0454
    Cell Significance Index: 0.6200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0321
    Cell Significance Index: 1.9700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0290
    Cell Significance Index: 5.8300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.0239
    Cell Significance Index: 6.8800
  • Cell Name: tendon cell (CL0000388)
    Fold Change: 0.0151
    Cell Significance Index: 0.2100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0118
    Cell Significance Index: 8.1500
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.0059
    Cell Significance Index: 0.0700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0028
    Cell Significance Index: 0.9900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0022
    Cell Significance Index: 0.3900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0004
    Cell Significance Index: -0.7400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0023
    Cell Significance Index: -3.5000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0025
    Cell Significance Index: -3.4200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0037
    Cell Significance Index: -0.6400
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.0039
    Cell Significance Index: -0.0500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0048
    Cell Significance Index: -3.6200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0050
    Cell Significance Index: -3.7200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0053
    Cell Significance Index: -2.8800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0054
    Cell Significance Index: -3.4600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0055
    Cell Significance Index: -0.4200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0055
    Cell Significance Index: -0.7000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0061
    Cell Significance Index: -3.8100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0064
    Cell Significance Index: -3.6000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0069
    Cell Significance Index: -3.1500
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.0082
    Cell Significance Index: -0.1100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0094
    Cell Significance Index: -1.2900
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0126
    Cell Significance Index: -0.1800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.0160
    Cell Significance Index: -0.3500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0177
    Cell Significance Index: -3.7400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0221
    Cell Significance Index: -2.7200
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.0245
    Cell Significance Index: -0.3600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0268
    Cell Significance Index: -2.7900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0296
    Cell Significance Index: -3.3900
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.0303
    Cell Significance Index: -0.4800
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: -0.0357
    Cell Significance Index: -0.4900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0365
    Cell Significance Index: -1.7000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0367
    Cell Significance Index: -3.7500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0474
    Cell Significance Index: -2.4600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0484
    Cell Significance Index: -2.1400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0487
    Cell Significance Index: -1.0200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0514
    Cell Significance Index: -1.8000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0529
    Cell Significance Index: -2.7800
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: -0.0540
    Cell Significance Index: -0.6400
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: -0.0542
    Cell Significance Index: -0.6800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0552
    Cell Significance Index: -2.0900
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0568
    Cell Significance Index: -1.5200
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: -0.0575
    Cell Significance Index: -0.7000
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0597
    Cell Significance Index: -1.4900
  • Cell Name: medium spiny neuron (CL1001474)
    Fold Change: -0.0608
    Cell Significance Index: -0.8200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0613
    Cell Significance Index: -2.8800
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0620
    Cell Significance Index: -1.5800
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.0654
    Cell Significance Index: -1.3300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0693
    Cell Significance Index: -1.8500
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.0725
    Cell Significance Index: -0.7900
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: -0.0755
    Cell Significance Index: -1.1300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0760
    Cell Significance Index: -2.4200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0770
    Cell Significance Index: -2.5200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0804
    Cell Significance Index: -1.5700
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0821
    Cell Significance Index: -1.9700
  • Cell Name: H1 horizontal cell (CL0004217)
    Fold Change: -0.0835
    Cell Significance Index: -1.0500
  • Cell Name: adipocyte (CL0000136)
    Fold Change: -0.0870
    Cell Significance Index: -1.1600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0875
    Cell Significance Index: -2.5200
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: -0.0902
    Cell Significance Index: -0.8700
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: -0.0923
    Cell Significance Index: -0.7100
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0977
    Cell Significance Index: -2.1100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1027
    Cell Significance Index: -3.5700
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.1042
    Cell Significance Index: -3.3000
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.1062
    Cell Significance Index: -2.2700
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: -0.1072
    Cell Significance Index: -1.3500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1099
    Cell Significance Index: -3.5200
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.1108
    Cell Significance Index: -2.1800
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.1116
    Cell Significance Index: -1.7900
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: -0.1142
    Cell Significance Index: -0.8300
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1152
    Cell Significance Index: -2.4500
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.1157
    Cell Significance Index: -2.8900
  • Cell Name: amacrine cell (CL0000561)
    Fold Change: -0.1158
    Cell Significance Index: -1.4500
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.1169
    Cell Significance Index: -2.4400
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: -0.1181
    Cell Significance Index: -1.2300
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1196
    Cell Significance Index: -3.5200
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.1216
    Cell Significance Index: -1.5400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1221
    Cell Significance Index: -3.2100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1238
    Cell Significance Index: -3.5500
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.1267
    Cell Significance Index: -1.6400
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.1281
    Cell Significance Index: -1.8400
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1285
    Cell Significance Index: -2.5800
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1316
    Cell Significance Index: -2.6000
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.1341
    Cell Significance Index: -1.9800
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.1349
    Cell Significance Index: -2.6900
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.1363
    Cell Significance Index: -1.9600
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.1365
    Cell Significance Index: -2.3600
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.1408
    Cell Significance Index: -1.3400
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.1441
    Cell Significance Index: -3.3300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Receptor Function:** The LHCGR is a G-protein coupled receptor (GPCR) that activates adenylate cyclase activity, leading to increased production of cyclic AMP (cAMP) and subsequent signaling cascades. 2. **Hormone Binding:** The receptor binds to LH and hCG, triggering a conformational change that activates the receptor's signaling pathway. 3. **Expression:** The LHCGR gene is widely expressed in the reproductive system, including the ovaries, testes, pituitary gland, and placenta. 4. **Cellular Distribution:** The receptor is present on the surface of various cell types, including erythrocytes, progenitor cells, and endothelial cells. **Pathways and Functions:** 1. **Adenylate Cyclase Activation:** The LHCGR activates adenylate cyclase, leading to increased production of cAMP and subsequent signaling cascades. 2. **G-Protein Coupled Receptor Signaling:** The receptor activates a G-protein coupled receptor signaling pathway, which regulates various cellular processes, including hormone biosynthesis, calcium ion transport, and steroid hormone biosynthesis. 3. **Cellular Response to Gonadotropin Stimulus:** The LHCGR plays a critical role in regulating cellular responses to gonadotropin stimuli, including LH and hCG. 4. **Development of Secondary Male Sexual Characteristics:** The receptor is involved in the development of secondary male sexual characteristics, including spermatogenesis and male genitalia development. **Clinical Significance:** 1. **Reproductive Disorders:** Abnormalities in the LHCGR gene have been linked to reproductive disorders, including polycystic ovary syndrome (PCOS), premature ovarian failure, and male infertility. 2. **Cancer:** The receptor has been implicated in the development and progression of various cancers, including ovarian, testicular, and breast cancers. 3. **Endocrine Disorders:** The LHCGR plays a critical role in regulating endocrine functions, including thyroid hormone biosynthesis and adrenal steroid hormone biosynthesis. 4. **Therapeutic Applications:** The receptor is a potential target for therapeutic interventions in reproductive and endocrine disorders, including hormone replacement therapy and cancer treatment. In conclusion, the LHCGR gene plays a crucial role in regulating reproductive hormone signaling, and its dysregulation has been implicated in various reproductive and endocrine disorders. Further research into the signaling pathways and functions of the LHCGR gene will provide valuable insights into the molecular mechanisms underlying reproductive and endocrine disorders.

Genular Protein ID: 2820236204

Symbol: LSHR_HUMAN

Name: Lutropin-choriogonadotropic hormone receptor

UniProtKB Accession Codes:

P22888 Q14751 Q15996 Q9UEW9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 7 DrugCentral 1 EMBL 18 EMDB 4 Ensembl 1 ExpressionAtlas 1 GO 39 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 4 PIR 1 PRINTS 3 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 RNAct 1 Reactome 2 RefSeq 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 2244890

Title: Cloning and sequencing of human LH/hCG receptor cDNA.

PubMed ID: 2244890

DOI: 10.1016/0006-291x(90)91552-4

PubMed ID: 1922095

Title: Expression of human luteinizing hormone (LH) receptor: interaction with LH and chorionic gonadotropin from human but not equine, rat, and ovine species.

PubMed ID: 1922095

DOI: 10.1210/mend-5-6-759

PubMed ID: 2293030

Title: Isolation of TSH and LH/CG receptor cDNAs from human thyroid: regulation by tissue specific splicing.

PubMed ID: 2293030

DOI: 10.1210/mend-4-8-1264

PubMed ID: 7556872

Title: Structure of the human luteinizing hormone-choriogonadotropin receptor gene: unusual promoter and 5' non-coding regions.

PubMed ID: 7556872

DOI: 10.1016/0303-7207(95)03557-n

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 9858858

Title: Genomic distribution and gonadal mRNA expression of two human luteinizing hormone receptor exon 1 sequences in random populations.

PubMed ID: 9858858

DOI: 10.1159/000022840

PubMed ID: 11847099

Title: Tyrosine sulfation is required for agonist recognition by glycoprotein hormone receptors.

PubMed ID: 11847099

DOI: 10.1093/emboj/21.4.504

PubMed ID: 15539429

Title: Evidence that palmitoylation of carboxyl terminus cysteine residues of the human luteinizing hormone receptor regulates postendocytic processing.

PubMed ID: 15539429

DOI: 10.1210/me.2004-0335

PubMed ID: 8747461

Title: Structural predictions for the ligand-binding region of glycoprotein hormone receptors and the nature of hormone-receptor interactions.

PubMed ID: 8747461

DOI: 10.1016/s0969-2126(01)00272-6

PubMed ID: 11134146

Title: Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel constitutively activating mutation in the first transmembrane helix.

PubMed ID: 11134146

DOI: 10.1210/jcem.85.12.7071

PubMed ID: 11391350

Title: Nodular Leydig cell hyperplasia in a boy with familial male-limited precocious puberty.

PubMed ID: 11391350

DOI: 10.1067/mpd.2001.114477

PubMed ID: 12050206

Title: Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal processing causes signaling deficiency.

PubMed ID: 12050206

DOI: 10.1210/jcem.87.6.8523

PubMed ID: 12679452

Title: Luteinizing hormone signaling and breast cancer: polymorphisms and age of onset.

PubMed ID: 12679452

DOI: 10.1210/jc.2002-021585

PubMed ID: 7692306

Title: A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty.

PubMed ID: 7692306

DOI: 10.1038/365652a0

PubMed ID: 8281137

Title: Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty.

PubMed ID: 8281137

DOI: 10.1093/hmg/2.11.1779

PubMed ID: 7757065

Title: Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty.

PubMed ID: 7757065

DOI: 10.1093/hmg/4.2.183

PubMed ID: 7714085

Title: A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty.

PubMed ID: 7714085

DOI: 10.1210/jcem.80.4.7714085

PubMed ID: 7629248

Title: A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty.

PubMed ID: 7629248

DOI: 10.1210/jcem.80.8.7629248

PubMed ID: 7719343

Title: Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene.

PubMed ID: 7719343

DOI: 10.1038/ng0295-160

PubMed ID: 8829636

Title: A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty.

PubMed ID: 8829636

DOI: 10.1002/(sici)1098-1004(1996)7:2<164::aid-humu13>3.0.co;2-0

PubMed ID: 8929952

Title: A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: genotype does not always correlate with phenotype.

PubMed ID: 8929952

DOI: 10.1136/jmg.33.2.143

PubMed ID: 8559204

Title: Testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene.

PubMed ID: 8559204

DOI: 10.1056/nejm199602223340805

PubMed ID: 9215288

Title: Comparison of immunocytochemical and molecular features with the phenotype in a case of incomplete male pseudohermaphroditism associated with a mutation of the luteinizing hormone receptor.

PubMed ID: 9215288

DOI: 10.1210/jcem.82.7.4039

PubMed ID: 10215412

Title: Polymorphisms in the coding exons of the human luteinizing hormone receptor gene.

PubMed ID: 10215412

DOI: 10.1002/(sici)1098-1004(1998)11:4<333::aid-humu18>3.0.co;2-g

PubMed ID: 9467560

Title: A mutation in the first transmembrane domain of the lutropin receptor causes male precocious puberty.

PubMed ID: 9467560

DOI: 10.1210/jcem.83.2.4579

PubMed ID: 9626144

Title: A novel mutation of the human luteinizing hormone receptor in 46XY and 46XX sisters.

PubMed ID: 9626144

DOI: 10.1210/jcem.83.6.4855

PubMed ID: 9661624

Title: A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty.

PubMed ID: 9661624

DOI: 10.1210/jcem.83.7.4968

PubMed ID: 9851790

Title: Evidences for an allelic variant of the human LC/CG receptor rather than a gene duplication: functional comparison of wild-type and variant receptors.

PubMed ID: 9851790

DOI: 10.1210/jcem.83.12.5325

PubMed ID: 9514160

Title: A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor.

PubMed ID: 9514160

DOI: 10.1210/mend.12.3.0077

PubMed ID: 9626653

Title: A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype.

PubMed ID: 9626653

DOI: 10.1210/mend.12.6.0124

PubMed ID: 10580072

Title: Leydig-cell tumors caused by an activating mutation of the gene encoding the luteinizing hormone receptor.

PubMed ID: 10580072

DOI: 10.1056/nejm199912023412304

PubMed ID: 15372531

Title: A novel missense homozygous inactivating mutation in the fourth transmembrane helix of the luteinizing hormone receptor in Leydig cell hypoplasia.

PubMed ID: 15372531

DOI: 10.1002/ajmg.a.20681

PubMed ID: 15472221

Title: Leydig cell hypoplasia: absent luteinizing hormone receptor cell surface expression caused by a novel homozygous mutation in the extracellular domain.

PubMed ID: 15472221

DOI: 10.1210/jc.2004-0298

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 19551906

Title: A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism.

PubMed ID: 19551906

DOI: 10.1002/humu.21072

Sequence Information:

  • Length: 699
  • Mass: 78643
  • Checksum: 2E3D93F4621BA842
  • Sequence:
    • MKQRFSALQL LKLLLLLQPP LPRALREALC PEPCNCVPDG ALRCPGPTAG LTRLSLAYLP 
VKVIPSQAFR GLNEVIKIEI SQIDSLERIE ANAFDNLLNL SEILIQNTKN LRYIEPGAFI 
NLPRLKYLSI CNTGIRKFPD VTKVFSSESN FILEICDNLH ITTIPGNAFQ GMNNESVTLK 
LYGNGFEEVQ SHAFNGTTLT SLELKENVHL EKMHNGAFRG ATGPKTLDIS STKLQALPSY 
GLESIQRLIA TSSYSLKKLP SRETFVNLLE ATLTYPSHCC AFRNLPTKEQ NFSHSISENF 
SKQCESTVRK VNNKTLYSSM LAESELSGWD YEYGFCLPKT PRCAPEPDAF NPCEDIMGYD 
FLRVLIWLIN ILAIMGNMTV LFVLLTSRYK LTVPRFLMCN LSFADFCMGL YLLLIASVDS 
QTKGQYYNHA IDWQTGSGCS TAGFFTVFAS ELSVYTLTVI TLERWHTITY AIHLDQKLRL 
RHAILIMLGG WLFSSLIAML PLVGVSNYMK VSICFPMDVE TTLSQVYILT ILILNVVAFF 
IICACYIKIY FAVRNPELMA TNKDTKIAKK MAILIFTDFT CMAPISFFAI SAAFKVPLIT 
VTNSKVLLVL FYPINSCANP FLYAIFTKTF QRDFFLLLSK FGCCKRRAEL YRRKDFSAYT 
SNCKNGFTGS NKPSQSTLKL STLHCQGTAL LDKTRYTEC

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.