LHB luteinizing hormone subunit beta [Homo sapiens (human)] - Gene

Summary

Official Symbol: LHBprovided by HGNC
Official Full Name: luteinizing hormone subunit betaprovided by HGNC
Primary source: HGNC:HGNC:6584
See related: Ensembl:ENSG00000104826 MIM:152780; AllianceGenome:HGNC:6584
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CGB4; HH23; LSH-B; LSH-beta
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 specificity. LH is expressed in the pituitary gland and promotes spermatogenesis and ovulation by stimulating the testes and ovaries to synthesize steroids. The genes for the beta chains of chorionic gonadotropin and for luteinizing hormone are contiguous on chromosome 19q13.3. Mutations in this gene are associated with hypogonadism which is characterized by infertility and pseudohermaphroditism. [provided by RefSeq, Jul 2008]
Expression: Biased expression in pancreas (RPKM 1.7), testis (RPKM 1.1) and 7 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 19q13.33

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (49015980..49019498, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (52010754..52014273, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (49519237..49520348, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Proliferating primary pituitary cells as a model for studying regulation of gonadotrope chromatin and gene expression.
Title: Proliferating primary pituitary cells as a model for studying regulation of gonadotrope chromatin and gene expression.
Single molecule characterization of the binding kinetics of a transcription factor and its modulation by DNA sequence and methylation.
Title: Single molecule characterization of the binding kinetics of a transcription factor and its modulation by DNA sequence and methylation.
Elevated circulating luteinizing hormone levels are associated with diabetic macroalbuminuria in Chinese men and postmenopausal women: A cross-sectional study.
Title: Elevated circulating luteinizing hormone levels are associated with diabetic macroalbuminuria in Chinese men and postmenopausal women: A cross-sectional study.
A genome-wide association study identifies FSHR rs2300441 associated with follicle-stimulating hormone levels.
Title: A genome-wide association study identifies FSHR rs2300441 associated with follicle-stimulating hormone levels.
The rs34349826 and rs6521 loci of the LHB gene were not related to male infertility, which can be further confirmed by larger-sample studies. The GG genotype combination is a protective factor against male infertility.
Title: [Correlation of the single nucleotide polymorphisms rs34349826 and rs6521 of the LHB gene with male infertility in Chinese men].
Homozygous nonsense mutation Trp28X in the LHB gene causes LH deficiency.
Title: Homozygous nonsense mutation Trp28X in the LHB gene causes male hypogonadism.
A 20-year-old male from a consanguineous family had pubertal delay, hypogonadism and undetectable LH. A homozygous c.118_120del (p.Lys40del) mutation was identified in the patient and his brother, who subsequently had the same phenotype.
Title: A vital region for human glycoprotein hormone trafficking revealed by an LHB mutation.
In girls with central precocious puberty, increased body mass index (BMI) was associated with slightly lower peak stimulated luteinizing hormone (LH) levels at early pubertal stages (Tanner stages 2 and 3).
Title: Luteinizing Hormone Secretion during Gonadotropin-Releasing Hormone Stimulation Tests in Obese Girls with Central Precocious Puberty.
LHbeta G1052A and LHCGR G935A genes polymorphisms are associated with increased risk of polycystic ovary syndrome in Egyptian women especially in obese cases.
Title: Association between genes encoding components of the Leutinizing hormone/Luteinizing hormone-choriogonadotrophin receptor pathway and polycystic ovary syndrome in Egyptian women.
The Trp8Arg/Ile15Thr polymorphism within the LHB gene was not associated with endometriosis and infertility.
Title: LH (Trp8Arg/Ile15Thr), LHR (insLQ) and FSHR (Asn680Ser) polymorphisms genotypic prevalence in women with endometriosis and infertility.

Submit: New GeneRIF Correction See all GeneRIFs (42)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Isolated lutropin deficiency MedGen: C0271582 OMIM: 228300 GeneReviews: Not available	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

NoName (e-PCR)
- UniSTS:481308

RH47492 (e-PCR)
- UniSTS:47570

A002E14 (e-PCR)
- UniSTS:16607

NoName (e-PCR)
- UniSTS:483811

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables hormone activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-cell signaling	TAS Traceable Author Statement more info	PubMed
involved_in hormone-mediated signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in male gonad development	TAS Traceable Author Statement more info	PubMed
involved_in progesterone biosynthetic process	TAS Traceable Author Statement more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi lumen	TAS Traceable Author Statement more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
part_of pituitary gonadotropin complex	NAS Non-traceable Author Statement more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: lutropin subunit beta

Names: interstitial cell stimulating hormone, beta chain; luteinizing hormone beta polypeptide; luteinizing hormone beta subunit; lutropin beta chain

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.