Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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 name Gene Name - the full gene name approved by the HGNC.	Luteinizing hormone subunit beta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	LHB
Synonyms (NCBI Gene) Gene synonyms aliases	CGB4, HH23, LSH-B, LSH-beta
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19q13.33
Summary Summary 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

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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

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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

MIM	HGNC	e!Ensembl
152780	6584	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

Interactions

View interactions

	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

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
isolated lutropin deficiency	Isolated lutropin deficiency	rs786204822, rs786204823, rs769066903, rs5030773, rs121912517	N/A

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Hypogonadotropic Hypogonadism	hypogonadotropic hypogonadism 23 with or without anosmia	N/A	N/A	GenCC

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenoma	Associate	2824561
Amenorrhea	Associate	17761593
Azoospermia	Associate	12620433, 19890128
Azoospermia Nonobstructive	Associate	12620433
Cerebellar Ataxia and Hypogonadotropic Hypogonadism	Associate	17761593, 27656125, 29476300
Dysmenorrhea	Associate	7720944
Eunuchism	Associate	29476300
Fertile eunuch syndrome	Associate	14709845
HELLP Syndrome	Associate	20541258
Hyperandrogenism	Associate	7720944
Hypogonadism	Associate	14709845, 15602022, 16358135, 17761593, 27656125, 29476300
Idiopathic Hypogonadotropic Hypogonadism	Associate	1730329
Infertility	Associate	17761593
Leukemia Lymphoma Adult T Cell	Associate	34446027
Neoplasms	Stimulate	31362717
Obesity	Stimulate	26662070
Obesity	Associate	26662070
Ovarian Diseases	Associate	16410673
Pituitary Neoplasms	Associate	26884293
Polycystic Ovary Syndrome	Associate	10065776, 26662070, 30596735
Pre Eclampsia	Associate	20541258
Primary Ovarian Insufficiency	Associate	9935123
Prolactinoma	Associate	25313736

LHB (luteinizing hormone subunit beta)