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LHB Gene(Protein Coding)

Luteinizing Hormone Beta Polypeptide

GCID:
GC19M049015
GIFtS:
50
Genes Participants
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Aliases for LHB Gene

Aliases for LHB Gene

  • Luteinizing Hormone Beta Polypeptide 2 3 5
  • Interstitial Cell Stimulating Hormone, Beta Chain 2 3
  • Luteinizing Hormone Beta Subunit 2 3
  • Lutropin Beta Chain 3 4
  • LSH-Beta 3 4
  • LSH-B 3 4
  • Luteinizing Hormone Subunit Beta 4
  • Lutropin Subunit Beta 3
  • Lutropin, Beta Chain 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 Without Anosmia and Tendinitis. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and Peptide hormone metabolism. Gene Ontology (GO) annotations related to this gene include receptor binding and hormone activity. An important paralog of this gene is CGB3.

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

Additional gene information for LHB Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LHB Gene

Genomics for LHB Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for LHB Gene

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
GH19I049018 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE 550.8 -1.5 -1460 2.6 HDAC1 SMAD1 ATF1 ZNF335 POLR2B GLIS2 EGR1 ZNF143 KLF7 ATF7 LOC101059948 LHB RUVBL2 CGB3 GYS1 CGB7 NTF4
GH19I049017 Promoter 0.7 EPDnew 550.8 0.0 -20 0.1 POLR2A EGR1 LHB LOC101059948 GYS1 RUVBL2 CGB7 NTF4
GH19I049012 Enhancer 0.7 ENCODE 0.8 +3.0 3028 2.2 PKNOX1 ATF1 ZBTB21 JUN KLF17 CEBPG FOSL1 ZFHX2 EGR1 ATF7 LOC101059948 CGB3 CGB7 NTF4 KCNA7 LIN7B C19orf73 PPFIA3 RUVBL2 NUCB1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LHB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LHB gene promoter:

Genomic Locations for LHB Gene

Genomic Locations for LHB Gene
chr19:49,015,980-49,017,090
(GRCh38/hg38)
Size:
1,111 bases
Orientation:
Minus strand
chr19:49,519,237-49,520,347
(GRCh37/hg19)

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 Structure • Gene Density

RefSeq DNA sequence for LHB Gene

Proteins for LHB Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

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:
ProtoNet:

Suggested Antigen Peptide Sequences for LHB Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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.

Gene Ontology (GO) - Molecular Function for LHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding TAS 10484773
GO:0005179 contributes_to hormone activity IBA --
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:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 2
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
See all subcellular structures

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 --
GO:0005737 cytoplasm IBA --
GO:0005796 Golgi lumen TAS --
GO:0070062 extracellular exosome HDA,IDA 23376485
genes like me logo Genes that share ontologies with LHB: view

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

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

Products:

  1. Drug

(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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for LHB Gene

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

Unigene Clusters for LHB Gene

Luteinizing hormone beta polypeptide:
Representative Sequences:

Clone Products

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

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for LHB Gene
mRNA expression by BioGPS for LHB GenemRNA expression by GTEx 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).

NURSA nuclear receptor signaling pathways regulating expression of LHB Gene:

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)
  • Muscle(2.3)

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

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 33 34
  • 98.11 (n)
cow
(Bos Taurus)
 Mammalia LHB 33 34
  • 82.98 (n)
dog
(Canis familiaris)
 Mammalia LHB 33 34
  • 82.27 (n)
rat
(Rattus norvegicus)
 Mammalia Lhb 33
  • 79.91 (n)
mouse
(Mus musculus)
 Mammalia Lhb 33 16 34
  • 78.96 (n)
oppossum
(Monodelphis domestica)
 Mammalia LHB 34
  • 59 (a)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia -- 34
  • 37 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC100490615 33
  • 51.82 (n)
zebrafish
(Danio rerio)
 Actinopterygii lhb 33 34
  • 54.95 (n)
Species where no ortholog for LHB was found in the sources mined by GeneCards:
  • 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:

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

Variants for LHB Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for LHB Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs121912517 pathogenic, Isolated lutropin deficiency 49,016,563(-) C/G/T coding_sequence_variant, missense_variant
rs1800447 benign, LUTEINIZING HORMONE POLYMORPHISM 49,016,648(-) A/G coding_sequence_variant, missense_variant
rs34349826 benign, LUTEINIZING HORMONE POLYMORPHISM 49,016,626(-) A/G coding_sequence_variant, missense_variant
rs5030773 pathogenic, Isolated lutropin deficiency, Hypogonadotropic hypogonadism 23 without anosmia (HH23) [MIM:228300] 49,016,273(-) T/C coding_sequence_variant, missense_variant
rs5030774 uncertain-significance, Infertility, male and female 49,016,130(-) C/T coding_sequence_variant, missense_variant

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for LHB Gene

MalaCards: The human disease database

(11) MalaCards diseases for LHB Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypogonadotropic hypogonadism 23 without anosmia
  • hh23
tendinitis
  • tendinopathy
bicipital tenosynovitis
tenosynovitis
  • inflammation of tendon sheath
hypogonadism
- 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

Additional Disease Information for LHB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 MR … Li CH (Biochimica et biophysica acta 1975) 2 3 4 58
  2. 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 44 58
  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 44 58
  4. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PMID: 19453261) Yerges LM … MrOS Research Group (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2009) 3 44 58
  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 44 58

Products for LHB Gene

Sources for LHB Gene

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