LHB (luteinizing hormone subunit beta)

Gene

• Entrez ID: 3972
• Gene name: Luteinizing hormone subunit beta
• Gene symbol: LHB
• Synonyms (NCBI Gene): CGB4, HH23, LSH-B, LSH-beta
• Chromosome: 19
• Chromosome location: 19q13.33
• Summary: 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

SNPs

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

Transcription factor	Regulation	Reference
EGR1	Activation	10319325
EGR1	Unknown	19106114
FOXO1	Unknown	22865884
NR5A1	Activation	10319325
PITX1	Unknown	19106114
SF1	Unknown	19106114

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005102	Function	Signaling receptor binding	TAS	10484773
GO:0005179	Function	Hormone activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005737	Component	Cytoplasm	IBA
GO:0005796	Component	Golgi lumen	TAS
GO:0006701	Process	Progesterone biosynthetic process	TAS	14557487
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	10484773
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA
GO:0007267	Process	Cell-cell signaling	TAS	10484773
GO:0008584	Process	Male gonad development	TAS	6785294
GO:0009755	Process	Hormone-mediated signaling pathway	NAS	25280580
GO:0061696	Component	Pituitary gonadotropin complex	NAS	25280580

Other IDs

• MIM: 152780
• HGNC: 6584
• e!Ensembl: ENSG00000104826

Protein

• 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

• Tissue specificity: TISSUE SPECIFICITY: Pituitary gland.
• Sequence:

  MEMLQGLLLLLLLSMGGAWASREPLRPWCHPINAILAVEKEGCPVCITVNTTICAGYCPT
  MMRVLQAVLPPLPQVVCTYRDVRFESIRLPGCPRGVDPVVSFPVALSCRCGPCRRSTSDC
  GGPKDHPLTCDHPQLSGLLFL

• Sequence length: 141

Pathways

KEGG:

cAMP signaling pathway
Neuroactive ligand-receptor interaction
Hormone signaling
GnRH signaling pathway
Ovarian steroidogenesis
Prolactin signaling pathway
GnRH secretion

Reactome:

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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Isolated lutropin deficiency	Pathogenic	rs786204822, rs786204823, rs769066903, rs5030773, rs121912517	RCV000169724 RCV000169725 RCV000169726 RCV000169727 RCV000015494 RCV000015497	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BRADYCARDIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHIARI-FROMMEL SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPROLACTINEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadotropic hypogonadism	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA	—	HPO, Orphanet HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFERTILITY, FEMALE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFERTILITY, MALE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LHB-related disorder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE PSEUDOHERMAPHRODITISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE PSEUDOHERMAPHRODITISM, NOT ELSEWHERE CLASSIFIED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Variant of unknown significance	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amenorrhea	Amenorrhea	Pubtator	17761593	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	12620433, 19890128	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia Nonobstructive	Nonobstructive azoospermia	Pubtator	12620433	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia, Nonobstructive	Azoospermia	BEFREE	12620433		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11368883		★☆☆☆☆ Found in Text Mining only
Central Precocious Puberty	Central Precocious Puberty	CTD_human_DG	18345393		★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia and Hypogonadotropic Hypogonadism	Cerebellar ataxia and hypogonadotropic hypogonadism	Pubtator	17761593, 27656125, 29476300	Associate	★☆☆☆☆ Found in Text Mining only
Deficiency of testosterone biosynthesis	Deficiency Of Testosterone Biosynthesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	LHGDN	12042273		★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	Pubtator	7720944	Associate	★☆☆☆☆ Found in Text Mining only
Hyperprolactinemia	Hyperprolactinemia	CTD_human_DG	6770916		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	6350720		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperthyroidism	Hyperthyroidism	BEFREE	30747053		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	14709845, 15602022, 16358135, 17761593, 27656125, 29476300	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism	Hypogonadism	BEFREE	15602022, 17761593, 22723313, 27656125, 29476300		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism	Hypogonadism	CTD_human_DG	15602022, 1727547, 18449926, 8263139		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism, Isolated Hypogonadotropic	Hypogonadism	CTD_human_DG	15602022, 1727547, 18449926, 8263139		★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	CTD_human_DG	15602022, 1727547, 18449926, 8263139		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	16358135, 18202527		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism	Pubtator	1730329	Associate	★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	17761593	Associate	★☆☆☆☆ Found in Text Mining only
Isolated lutropin deficiency (disorder)	Isolated lutropin deficiency	UNIPROT_DG	1727547		★☆☆☆☆ Found in Text Mining only
Isolated lutropin deficiency (disorder)	Isolated lutropin deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Isolated lutropin deficiency (disorder)	Isolated lutropin deficiency	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Isolated lutropin deficiency (disorder)	Isolated lutropin deficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Isolated lutropin deficiency (disorder)	Isolated lutropin deficiency	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Leydig cell hypoplasia due to LHB deficiency	Leydig Cell Hypoplasia	Orphanet			★☆☆☆☆ Found in Text Mining only
Leydig Cell Tumor	Leydig Cell Tumor	CTD_human_DG	25289773		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	30021121		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28004112, 30870427		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11368883		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	11368883		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	26662070	Stimulate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	26662070	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Cysts	Ovarian Cysts	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	16410673	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	9935123		★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	26884293	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	10065776, 22209983, 25111116, 26662070		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	10065776, 26662070, 30596735	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	CTD_human_DG	11889176, 20378617		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Precocious Puberty	Precocious puberty	CTD_human_DG	18345393		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	9935123		★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	CTD_human_DG	15602022, 1727547, 18449926, 8263139		★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	25313736		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	12746844		★☆☆☆☆ Found in Text Mining only
Sclerocystic Ovaries	Sclerocystic Ovaries	CTD_human_DG	11889176, 20378617		★☆☆☆☆ Found in Text Mining only
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subfertility, Female	Subfertility	CTD_human_DG	9457942		★☆☆☆☆ Found in Text Mining only
Testicular hypogonadism	Testicular Hypogonadism	BEFREE	29476300		★☆☆☆☆ Found in Text Mining only
Testicular Microlithiasis	Testicular Microlithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testotoxicosis	Testotoxicosis	CTD_human_DG	18345393		★☆☆☆☆ Found in Text Mining only