ENSG00000104826


Homo sapiens

Features
Gene ID: ENSG00000104826
  
Biological name :LHB
  
Synonyms : LHB / luteinizing hormone beta polypeptide / P01229
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: q13.33
Gene start: 49015980
Gene end: 49017081
  
Corresponding Affymetrix probe sets: 214471_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000221421
NCBI entrez gene - 3972     See in Manteia.
OMIM - 152780
RefSeq - NM_000894
RefSeq Peptide - NP_000885
swissprot - A0A0F7RQE6
swissprot - P01229
Ensembl - ENSG00000104826
  
Related genetic diseases (OMIM): 228300 - Hypogonadotropic hypogonadism 23 with or without anosmia, 228300
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 lhbENSDARG00000099363Danio rerio
 LhbENSMUSG00000100916Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CGB3 / P0DN86 / chorionic gonadotropin beta subunit 3ENSG0000010482781
CGB5 / P0DN86 / chorionic gonadotropin beta subunit 5ENSG0000018905281
CGB7 / P0DN87 / chorionic gonadotropin beta subunit 7ENSG0000019633781
CGB8 / P0DN86 / chorionic gonadotropin beta subunit 8ENSG0000021303081
CGB2 / chorionic gonadotropin beta subunit 2ENSG0000010481879
CGB1 / A6NKQ9 / chorionic gonadotropin beta subunit 1ENSG0000026763175
AC008687.1ENSG0000026733571
TSHB / P01222 / thyroid stimulating hormone betaENSG0000013420035
FSHB / P01225 / follicle stimulating hormone beta subunitENSG0000013180832


Protein motifs (from Interpro)
Interpro ID Name
 IPR001545  Gonadotropin, beta subunit
 IPR006208  Glycoprotein hormone subunit beta
 IPR018245  Gonadotropin, beta subunit, conserved site
 IPR029034  Cystine-knot cytokine


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006701 progesterone biosynthetic process TAS
 biological_processGO:0007165 signal transduction TAS
 biological_processGO:0007186 G-protein coupled receptor signaling pathway TAS
 biological_processGO:0007267 cell-cell signaling TAS
 biological_processGO:0008584 male gonad development TAS
 biological_processGO:0009755 hormone-mediated signaling pathway IBA
 biological_processGO:0010469 regulation of signaling receptor activity IEA
 biological_processGO:0016486 peptide hormone processing TAS
 biological_processGO:0030728 ovulation IBA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space IBA
 cellular_componentGO:0005737 cytoplasm IBA
 cellular_componentGO:0005796 Golgi lumen TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005102 signaling receptor binding TAS
 molecular_functionGO:0005179 hormone activity IBA


Pathways (from Reactome)
Pathway description
Androgen biosynthesis
Mineralocorticoid biosynthesis
Glycoprotein hormones
Hormone ligand-binding receptors
G alpha (s) signalling events
Reactions specific to the complex N-glycan synthesis pathway


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000044 Hypogonadotrophic hypogonadism "Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH)." [HPO:curators]
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 HP:0000054 Micropenis 
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 HP:0000138 Ovarian cysts 
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 HP:0000771 Gynecomastia 
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 HP:0000869 Secondary amenorrhea 
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 HP:0001939 Metabolism abnormality 
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 HP:0002215 Sparse axillary hair 
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 HP:0002225 Sparse pubic hair 
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 HP:0008226 Androgen insufficiency 
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 HP:0008669 Impaired spermatogenesis 
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 HP:0010789 Abnormality of the Leydig cells 
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 HP:0012215 Testicular microlithiasis "The deposition of calcium phosphate microliths within the seminiferous tubules." [HPO:probinson]
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 HP:0030344 Decreased circulating luteinizing hormone level "A reduction in the circulating level of luteinizing hormone (LH)." [HPO:probinson]
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 HP:0040171 Decreased serum testosterone level 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000124302 CHST8 / Q9H2A9 / carbohydrate sulfotransferase 8  / reaction
 ENSG00000138039 LHCGR / P22888 / luteinizing hormone/choriogonadotropin receptor  / complex / reaction
 ENSG00000135346 CGA / P01215 / glycoprotein hormones, alpha polypeptide  / complex / reaction






 

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