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Aliases for LHB Gene

Aliases for LHB Gene

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

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 Beta Polypeptide) is a Protein Coding gene. Diseases associated with LHB include hypogonadotropic hypogonadism 23 with or without anosmia and leydig cell hypoplasia due to lhb deficiency. Among its related pathways are Development Endothelin-1/EDNRA signaling and Peptide ligand-binding receptors. GO annotations related to this gene include receptor binding and hormone activity. An important paralog of this gene is TSHB.

UniProtKB/Swiss-Prot 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LHB Gene

Genomics for LHB Gene

Regulatory Elements for LHB Gene

Enhancers for LHB Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around LHB on UCSC Golden Path with GeneCards custom track

Promoters for LHB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around LHB on UCSC Golden Path with GeneCards custom track

Genomic Location for LHB Gene

Chromosome:
19
Start:
49,015,980 bp from pter
End:
49,017,090 bp from pter
Size:
1,111 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

Proteomics data for LHB Gene at MOPED

Post-translational modifications for LHB Gene

Other Protein References for LHB Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for LHB Gene

Domains & Families for LHB Gene

Gene Families for LHB Gene

Suggested Antigen Peptide Sequences for LHB Gene

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

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
UniProtKB/Swiss-Prot Function:
Promotes spermatogenesis and ovulation by stimulating the testes and ovaries to synthesize steroids.
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:

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for LHB Gene COMPARTMENTS Subcellular localization image for LHB gene
Compartment Confidence
extracellular 5
golgi apparatus 4
nucleus 2
cytosol 1

No data available for Gene Ontology (GO) - Cellular Components for LHB Gene

Pathways & Interactions for LHB Gene

genes like me logo Genes that share pathways with LHB: view

SIGNOR curated interactions for LHB Gene

Activates:

Gene Ontology (GO) - Biological Process for LHB Gene

None

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

(2) REFSEQ mRNAs :
(0) Additional mRNA sequences :
(37) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for LHB Gene

Luteinizing hormone beta polypeptide:
Representative Sequences:

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

No ASD Table

Relevant External Links for LHB Gene

GeneLoc Exon Structure for
LHB
ECgene alternative splicing isoforms for
LHB

Expression for LHB Gene

mRNA expression in normal human tissues 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).

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.
genes like me logo Genes that share expression patterns with LHB: view

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia LHB 35
  • 82.98 (n)
  • 70.92 (a)
LHB 36
  • 70 (a)
OneToMany
dog
(Canis familiaris)
Mammalia LHB 35
  • 82.27 (n)
  • 74.47 (a)
LHB 36
  • 74 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Lhb 35
  • 78.96 (n)
  • 71.63 (a)
Lhb 16
Lhb 36
  • 71 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia LHB 35
  • 98.11 (n)
  • 99.29 (a)
LHB 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lhb 35
  • 79.91 (n)
  • 71.63 (a)
oppossum
(Monodelphis domestica)
Mammalia LHB 36
  • 59 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 37 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490615 35
  • 51.82 (n)
  • 37.5 (a)
zebrafish
(Danio rerio)
Actinopterygii lhb 35
  • 54.95 (n)
  • 46.85 (a)
lhb 36
  • 38 (a)
OneToMany
Species with no ortholog for LHB:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for LHB Gene

Paralogs for LHB Gene

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

Pseudogenes.org Pseudogenes for LHB Gene

genes like me logo Genes that share paralogs with LHB: view

Variants for LHB Gene

Sequence variations from dbSNP and Humsavar for LHB Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
VAR_003189 Hypogonadotropic hypogonadism 23 without anosmia (HH23)
rs1800447 - 49,016,648(-) GGCCA(C/T)GGTGC reference, missense
rs34349826 - 49,016,626(+) CCAGG(A/G)TGGCA reference, missense
rs5030775 - 49,016,678(-) GCGGG(A/G)CATGG reference, missense
VAR_015673 -

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

Variant ID Type Subtype PubMed ID
nsv9739 CNV Gain+Loss 18304495
nsv833857 CNV Loss 17160897
nsv912248 CNV Loss 21882294
dgv3970n71 CNV Loss 21882294
nsv833859 CNV Loss 17160897
nsv912251 CNV Loss 21882294
esv22462 CNV Gain 19812545
nsv471416 CNV Duplication 19718026

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)

Relevant External Links for LHB Gene

HapMap Linkage Disequilibrium report
LHB
Human Gene Mutation Database (HGMD)
LHB

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

Disorders for LHB Gene

MalaCards: The human disease database

(12) MalaCards diseases for LHB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypogonadotropic hypogonadism 23 with or without anosmia
  • fertile eunuch syndrome
leydig cell hypoplasia due to lhb deficiency
  • 46,xy dsd due to lhb deficiency
hypogonadism
bicipital tenosynovitis
tenosynovitis
  • inflammation of tendon sheath
- 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 mutations 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

Relevant External Links for LHB

Genetic Association Database (GAD)
LHB
Human Genome Epidemiology (HuGE) Navigator
LHB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LHB
genes like me logo Genes that share disorders with LHB: view

Publications for LHB Gene

  1. Human pituitary lutropin. Isolation, properties, and the complete amino acid sequence of the beta-subunit. (PMID: 1191677) Sairam M.R. … Li C.H. (Biochim. Biophys. Acta 1975) 2 3 4 67
  2. 'Carriers of variant luteinizing hormone (V-LH) among 1593 Baltic men have significantly higher serum LH'. (PMID: 25820123) Punab A.M. … Laan M. (Andrology 2015) 3
  3. Variant-beta luteinizing hormone is not associated with poor ovarian response to controlled ovarian hyperstimulation. (PMID: 24625195) Hanevik H.I. … Kahn J.A. (Reprod. Biol. Endocrinol. 2014) 3
  4. Trp28Arg/Ile35Thr LHB gene variants are associated with elevated testosterone levels in women with polycystic ovary syndrome. (PMID: 25111116) Batista M.C. … Lofrano-Porto A. (Gene 2014) 3
  5. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 3

Products for LHB Gene

Sources for LHB Gene

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