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LHB (luteinizing hormone subunit beta)
Gene
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3972
Gene nameGene Name - the full gene name approved by the HGNC.
Luteinizing hormone subunit beta
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
LHB
SynonymsGene synonyms aliases
CGB4, HH23, LSH-B, LSH-beta
ChromosomeChromosome number
19
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.33
SummarySummary of gene provided in NCBI Entrez Gene.
This gene is a member of the glycoprotein hormone beta chain family and encodes the beta subunit of luteinizing hormone (LH). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological s
SNPsSNP information provided by dbSNP.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs121912517 C>G,T Pathogenic Coding sequence variant, missense variant
rs769066903 AACAGCAGCAGC>- Pathogenic Coding sequence variant, inframe deletion
rs786204822 C>A,G Pathogenic Splice donor variant
rs786204823 ATGGGGTGG>- Pathogenic Coding sequence variant, inframe deletion
Transcription factors
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Transcription factor Regulation Reference
EGR1 Activation 10319325
EGR1 Unknown 19106114
FOXO1 Unknown 22865884
NR5A1 Activation 10319325
PITX1 Unknown 19106114
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0005102 Function Signaling receptor binding TAS 10484773
GO:0005179 Function Hormone activity IBA 21873635
GO:0005515 Function Protein binding IPI 32296183
GO:0005576 Component Extracellular region TAS
GO:0005615 Component Extracellular space IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P01229
Protein name Lutropin subunit beta (Lutropin beta chain) (Luteinizing hormone subunit beta) (LH-B) (LSH-B) (LSH-beta)
Protein function Promotes spermatogenesis and ovulation by stimulating the testes and ovaries to synthesize steroids.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00007 Cys_knot
26 → 130
Cystine-knot domain
 Domain
Sequence
Sequence length 141
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  cAMP signaling pathway
Neuroactive ligand-receptor interaction
Hormone signaling
GnRH signaling pathway
Ovarian steroidogenesis
Prolactin signaling pathway
GnRH secretion 		  Androgen biosynthesis
Mineralocorticoid biosynthesis
Glycoprotein hormones
Hormone ligand-binding receptors
G alpha (s) signalling events
ADORA2B mediated anti-inflammatory cytokines production
Reactions specific to the complex N-glycan synthesis pathway
Associated diseases
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Hyperprolactinemia Hyperprolactinemia rs398122522, rs376188691, rs754974807 6770916
Hypertension Hypertensive disease rs13306026, rs13333226 6350720
Hypogonadotropic hypogonadism Hypogonadotropic hypogonadism rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139 15602022, 8263139, 18449926, 1727547
Isolated lutropin deficiency Isolated lutropin deficiency (disorder) rs5030773, rs121912517, rs786204822, rs786204823, rs769066903 1727547
Unknown
Disease name Disease term dbSNP ID References
Central precocious puberty Central Precocious Puberty 18345393
Deficiency of testosterone biosynthesis Deficiency of testosterone biosynthesis
Gynecomastia Gynecomastia
Hypogonadism Hypogonadism, Primary hypogonadism, Hypogonadism, Isolated Hypogonadotropic 1727547, 15602022, 8263139, 18449926, 8263139, 18449926, 1727547, 15602022, 18449926, 15602022, 1727547, 8263139

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