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 o... See more...

Aliases for LHB Gene

Aliases for LHB Gene

  • Luteinizing Hormone Subunit Beta 2 3 4 5
  • LSH-B 2 3 4
  • Interstitial Cell Stimulating Hormone, Beta Chain 2 3
  • Luteinizing Hormone Beta Polypeptide 2 3
  • Lutropin Subunit Beta 3 4
  • Lutropin Beta Chain 3 4
  • LSH-Beta 3 4
  • CGB4 2 3
  • Luteinizing Hormone Beta Subunit 3
  • Lutropin, Beta Chain 2
  • HH23 3
  • HLHB 2
  • LH-B 4
  • LHB 5

External Ids for LHB Gene

Previous GeneCards Identifiers for LHB Gene

  • GC19M050177
  • GC19M049887
  • GC19M054195
  • GC19M054211
  • GC19M049519
  • GC19M045895

Summaries for LHB Gene

Entrez Gene Summary for LHB 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 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]

GeneCards Summary for LHB Gene

LHB (Luteinizing Hormone Subunit Beta) is a Protein Coding gene. Diseases associated with LHB include Hypogonadotropic Hypogonadism 23 Without Anosmia and Hypogonadism. Among its related pathways are Nanog in Mammalian ESC Pluripotency and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and hormone activity. An important paralog of this gene is CGB3.

UniProtKB/Swiss-Prot Summary for LHB Gene

  • Promotes spermatogenesis and ovulation by stimulating the testes and ovaries to synthesize steroids.

Gene Wiki entry for LHB Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LHB Gene

Genomics for LHB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LHB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J049018 Promoter/Enhancer 1.4 FANTOM5 Ensembl ENCODE 250.7 -1.6 -1610 3 IKZF1 ZNF600 ZNF592 NFIC ZIC2 MXD4 NONO REST TARDBP CHD2 LOC101059948 LHB RUVBL2 CGB3 GYS1 CGB7 NTF4
GH19J049017 Promoter 0.5 EPDnew 250.7 0.0 -19 0.1 POLR2A EGR1 LHB LOC101059948 GYS1 RUVBL2 CGB7 NTF4 CGB3
GH19J049012 Enhancer 0.7 ENCODE 0.7 +3.0 3029 2.2 ATF2 ZBTB10 JUND ATF1 NCOA1 ZBTB33 EGR1 ATF4 ZBTB21 ZNF398 LOC101059948 CGB3 CGB7 NTF4 KCNA7 LIN7B C19orf73 PPFIA3 RUVBL2 NUCB1
GH19J049020 Enhancer 0.7 FANTOM5 0.7 -4.0 -3978 0.3 BHLHE40 MNT KLF9 SP2 KLF16 ZNF2 KLF1 GABPB1 SP3 ZNF169 LOC101059948 CGB3 GYS1 RUVBL2 CGB7 NTF4 CGB5 HSALNG0126944 LHB
GH19J048999 Enhancer 0.9 Ensembl ENCODE 0.4 +17.3 17268 1.3 ZNF654 ZIC2 CTCF REST ELF1 SMC3 GABPB1 RAD21 ZFP91 SPI1 piR-57134-060 RUVBL2 CGB7 NTF4 KCNA7 SNRNP70 NUCB1-AS1 NUCB1 FJ601684-236 HSALNG0126941-001
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LHB on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LHB

Top Transcription factor binding sites by QIAGEN in the LHB gene promoter:
  • AhR
  • Egr-3
  • GATA-1
  • NF-1
  • NF-1/L
  • Pax-5
  • RREB-1

Genomic Locations for LHB Gene

Latest Assembly
chr19:49,015,980-49,017,091
(GRCh38/hg38)
Size:
1,112 bases
Orientation:
Minus strand

Previous Assembly
chr19:49,519,237-49,520,348
(GRCh37/hg19 by Entrez Gene)
Size:
1,112 bases
Orientation:
Minus strand

chr19:49,519,237-49,520,338
(GRCh37/hg19 by Ensembl)
Size:
1,102 bases
Orientation:
Minus strand

Genomic View for LHB Gene

Genes around LHB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LHB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LHB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LHB Gene

Proteins for LHB Gene

  • Protein details for LHB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01229-LSHB_HUMAN
    Recommended name:
    Lutropin subunit beta
    Protein Accession:
    P01229
    Secondary Accessions:
    • Q9UDI0

    Protein attributes for LHB Gene

    Size:
    141 amino acids
    Molecular mass:
    15345 Da
    Quaternary structure:
    • Heterodimer of a common alpha chain and a unique beta chain which confers biological specificity to thyrotropin, lutropin, follitropin and gonadotropin.

    Three dimensional structures from OCA and Proteopedia for LHB Gene

neXtProt entry for LHB Gene

Post-translational modifications for LHB Gene

  • Glycosylation at Asn50
  • Glycosylation from GlyConnect
    • LSHB_HUMAN (350)

Other Protein References for LHB Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LHB Gene

Domains & Families for LHB Gene

Gene Families for LHB Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted secreted proteins

Protein Domains for LHB Gene

InterPro:
Blocks:
  • Growth factor cystine knot superfamily signature
  • Cystine knot domain
  • Gonadotropin, beta chain

Suggested Antigen Peptide Sequences for LHB Gene

GenScript: Design optimal peptide antigens:
  • Luteinizing hormone beta subunit (A7Y161_HUMAN)
  • Luteinizing hormone subunit beta (LSHB_HUMAN)
  • Luteinizing hormone beta subunit (Q8WXL0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P01229

UniProtKB/Swiss-Prot:

LSHB_HUMAN :
  • Belongs to the glycoprotein hormones subunit beta family.
Family:
  • Belongs to the glycoprotein hormones subunit beta family.
genes like me logo Genes that share domains with LHB: view

Function for LHB Gene

Molecular function for LHB Gene

UniProtKB/Swiss-Prot Function:
Promotes spermatogenesis and ovulation by stimulating the testes and ovaries to synthesize steroids.
GENATLAS Biochemistry:
luteinizing hormone,beta polypeptide (see CGB@),whith a common genetic variant-leading in the heterozygous or homozygous type to slight but significant alterations in ovarian steroido genesis,delayed progression of puberty in males

Phenotypes From GWAS Catalog for LHB Gene

Gene Ontology (GO) - Molecular Function for LHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding TAS 10484773
GO:0005179 contributes_to hormone activity IBA 21873635
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with LHB: view
genes like me logo Genes that share phenotypes with LHB: view

Human Phenotype Ontology for LHB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LHB Gene

MGI Knock Outs for LHB:
  • Lhb Lhb<tm1Kmr>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LHB

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for LHB Gene

Localization for LHB Gene

Subcellular locations from UniProtKB/Swiss-Prot for LHB Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LHB gene
Compartment Confidence
extracellular 5
golgi apparatus 4
nucleus 3
plasma membrane 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for LHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA 21873635
GO:0005737 cytoplasm IBA 21873635
GO:0005796 Golgi lumen TAS --
genes like me logo Genes that share ontologies with LHB: view

Pathways & Interactions for LHB Gene

PathCards logo

SuperPathways for LHB Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
.85
.85
.84
.84
.74
.72
.66
.65
.64
.62
.61
.60
.57
.57
2 GPCR Pathway
.73
.73
.62
.59
.58
.58
.55
3 ERK Signaling
.61
.61
.58
.51
.49
4 Nanog in Mammalian ESC Pluripotency
.61
.61
.59
.48
5 CREB Pathway
.68
.68
.63
.50
genes like me logo Genes that share pathways with LHB: view

Pathways by source for LHB Gene

1 GeneGo (Thomson Reuters) pathway for LHB Gene
  • Development Role of Activin A in cell differentiation and proliferation
55 Qiagen pathways for LHB Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR

SIGNOR curated interactions for LHB Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for LHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006701 progesterone biosynthetic process TAS 14557487
GO:0007165 signal transduction TAS 10484773
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0007267 cell-cell signaling TAS 10484773
GO:0008584 male gonad development TAS 6785294
genes like me logo Genes that share ontologies with LHB: view

Drugs & Compounds for LHB Gene

(1) Additional Compounds for LHB Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with LHB: view

Transcripts for LHB Gene

mRNA/cDNA for LHB Gene

1 REFSEQ mRNAs :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LHB

Alternative Splicing Database (ASD) splice patterns (SP) for LHB Gene

No ASD Table

Relevant External Links for LHB Gene

GeneLoc Exon Structure for
LHB

Expression for LHB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LHB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LHB Gene

This gene is overexpressed in Pituitary (x52.1).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LHB

SOURCE GeneReport for Unigene cluster for LHB Gene:

Hs.154704

mRNA Expression by UniProt/SwissProt for LHB Gene:

P01229-LSHB_HUMAN
Tissue specificity: Pituitary gland.

Evidence on tissue expression from TISSUES for LHB Gene

  • Nervous system(4.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LHB Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • endocrine
  • integumentary
  • nervous
  • reproductive
Regions:
Head and neck:
  • brain
  • head
  • pituitary gland
Thorax:
  • breast
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with LHB: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for LHB Gene

Orthologs for LHB Gene

This gene was present in the common ancestor of chordates.

Orthologs for LHB Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LHB 29 30
  • 98.11 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LHB 29 30
  • 82.98 (n)
OneToMany
Dog
(Canis familiaris)
Mammalia LHB 29 30
  • 82.27 (n)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Lhb 29
  • 79.91 (n)
Mouse
(Mus musculus)
Mammalia Lhb 29 16 30
  • 78.96 (n)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia LHB 30
  • 59 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 37 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100490615 29
  • 51.82 (n)
Zebrafish
(Danio rerio)
Actinopterygii lhb 29 30
  • 54.95 (n)
OneToMany
Species where no ortholog for LHB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for LHB Gene

ENSEMBL:
Gene Tree for LHB (if available)
TreeFam:
Gene Tree for LHB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LHB: view image
Alliance of Genome Resources:
Additional Orthologs for LHB

Paralogs for LHB Gene

Paralogs for LHB Gene

(8) SIMAP similar genes for LHB Gene using alignment to 3 proteins:

  • LSHB_HUMAN
  • A7Y161_HUMAN
  • Q8WXL0_HUMAN
genes like me logo Genes that share paralogs with LHB: view

Variants for LHB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LHB Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs1056914 Benign: Isolated lutropin deficiency 49,016,598(-) T/G
NM_000894.2(LHB):c.132A>C (p.Pro44=)
SYNONYMOUS
rs115897316 Benign: not provided 49,016,263(-) G/A
NM_000894.3(LHB):c.231C>T (p.Cys77=)
SYNONYMOUS
rs116437960 Benign: not provided 49,016,261(-) G/T
NM_000894.3(LHB):c.233C>A (p.Thr78Asn)
MISSENSE
rs121912517 Pathogenic: Isolated lutropin deficiency 49,016,563(-) C/T
NM_000894.2(LHB):c.167G>A (p.Gly56Asp)
MISSENSE
rs146251380 Likely Benign: not provided 49,016,232(-) G/A
NM_000894.3(LHB):c.262C>T (p.Arg88Trp)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LHB Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for LHB Gene

Variant ID Type Subtype PubMed ID
dgv3618n100 CNV gain 25217958
esv22462 CNV gain 19812545
nsv471416 CNV gain 19718026
nsv833857 CNV loss 17160897
nsv833859 CNV loss 17160897
nsv953598 CNV deletion 24416366
nsv9739 CNV gain+loss 18304495

Variation tolerance for LHB Gene

Residual Variation Intolerance Score: 87.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.37; 53.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LHB Gene

Human Gene Mutation Database (HGMD)
LHB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LHB
Leiden Open Variation Database (LOVD)
LHB

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LHB Gene

Disorders for LHB Gene

MalaCards: The human disease database

(13) MalaCards diseases for LHB Gene - From: OMI, CVR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
hypogonadotropic hypogonadism 23 without anosmia
  • hh23
hypogonadism
amenorrhea
  • absence of menstruation
drug psychosis
  • drug-induced psychosis
drug-induced mental disorder
- elite association - COSMIC cancer census association via MalaCards
Search LHB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LSHB_HUMAN
  • Hypogonadotropic hypogonadism 23 without anosmia (HH23) [MIM:228300]: A form of hypogonadotropic hypogonadism, a group of disorders characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. HH23 male patients have normal sexual differentiation, reduced or absent Leydig cells, reduced or absent spermatogenesis, and absence of spontaneous puberty. Female patients exhibit normal pubertal development and menarche, followed by oligomenorrhea and anovulatory secondary amenorrhea. {ECO:0000269 PubMed:1727547}. Note=The disease is caused by variants affecting the gene represented in this entry.

Genatlas disease for LHB Gene

fertile eunuchoidism,hypogonadotropic hypogonadism,male infantilism,male infertility in heterozygotes but normal sexual development and fertility in female heterozygotes

Additional Disease Information for LHB

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with LHB: view

Publications for LHB Gene

  1. Hypogonadism caused by a single amino acid substitution in the beta subunit of luteinizing hormone. (PMID: 1727547) Weiss J … Jameson JL (The New England journal of medicine 1992) 3 4 72
  2. Human pituitary lutropin. Isolation, properties, and the complete amino acid sequence of the beta-subunit. (PMID: 1191677) Sairam MR … Li CH (Biochimica et biophysica acta 1975) 2 3 4
  3. Luteinizing hormone beta-subunit gene (LHbeta) polymorphism in infertility and endometriosis-associated infertility. (PMID: 20430510) Mafra FA … Barbosa CP (European journal of obstetrics, gynecology, and reproductive biology 2010) 3 40
  4. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 40
  5. Genetic variation in sex hormone genes influences heel ultrasound parameters in middle-aged and elderly men: results from the European Male Aging Study (EMAS). (PMID: 18767927) Limer KL … EMAS Study Group (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2009) 3 40

Products for LHB Gene

Sources for LHB Gene