Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 3972
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol LHB   Gene   UCSC   Ensembl
Aliases CGB4, HH23, LSH-B, LSH-beta
Gene name luteinizing hormone beta polypeptide
Alternate names lutropin subunit beta, interstitial cell stimulating hormone, beta chain, luteinizing hormone beta subunit, lutropin beta chain,
Gene location 19q13.33 (49017089: 49015979)     Exons: 3     NC_000019.10
Gene summary(Entrez) 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]
OMIM 152780

Protein Summary
Protein general information P01229  

Name: Lutropin subunit beta (Lutropin beta chain) (Luteinizing hormone subunit beta) (LH B) (LSH B) (LSH beta)

Length: 141  Mass: 15,345

Tissue specificity: Pituitary gland.

Sequence MEMLQGLLLLLLLSMGGAWASREPLRPWCHPINAILAVEKEGCPVCITVNTTICAGYCPTMMRVLQAVLPPLPQV
VCTYRDVRFESIRLPGCPRGVDPVVSFPVALSCRCGPCRRSTSDCGGPKDHPLTCDHPQLSGLLFL
Structural information
Interpro:  IPR029034 IPR006208 IPR001545 IPR018245
Prosite:   PS00261 PS00689

Pfam:  		 PF00007
CDD:   cd00069

PDB:  		 1M92
PDBsum:   1M92
STRING:   ENSP00000221421;
Other Databases GeneCards:  LHB;  Malacards:  LHB

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0005102 receptor binding
 TAS molecular_function
GO:0005179 hormone activity
 IEA molecular_function
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0006701 progesterone biosynthetic
process
 TAS biological_process
GO:0007165 signal transduction
 TAS biological_process
GO:0007267 cell-cell signaling
 TAS biological_process
GO:0008584 male gonad development
 TAS biological_process
GO:0016486 peptide hormone processin
g
 TAS biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0005102 receptor binding
 TAS molecular_function
GO:0005179 hormone activity
 IEA molecular_function
GO:0005179 hormone activity
 IEA molecular_function
GO:0005576 extracellular region
 IEA cellular_component
GO:0005576 extracellular region
 IEA cellular_component
GO:0005576 extracellular region
 IEA cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0006701 progesterone biosynthetic
process
 TAS biological_process
GO:0007165 signal transduction
 TAS biological_process
GO:0007267 cell-cell signaling
 TAS biological_process
GO:0008584 male gonad development
 TAS biological_process
GO:0016486 peptide hormone processin
g
 TAS biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0005102 receptor binding
 TAS molecular_function
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005796 Golgi lumen
 TAS cellular_component
GO:0006701 progesterone biosynthetic
process
 TAS biological_process
GO:0007165 signal transduction
 TAS biological_process
GO:0007267 cell-cell signaling
 TAS biological_process
GO:0008584 male gonad development
 TAS biological_process
GO:0016486 peptide hormone processin
g
 TAS biological_process
GO:0070062 extracellular exosome
 IDA cellular_component

KEGG pathways

hsa04080  Neuroactive ligand-receptor interaction
hsa04917  Prolactin signaling pathway
hsa04913  Ovarian steroidogenesis
hsa04912  GnRH signaling pathway

Diseases

Associated diseases References
Absence of virilization PMID: 19890128
Alzheimer's disease PMID: 18439297
Anovulation PMID: 1814658
Autism PMID: 19598235
Azoospermia PMID: 10407645
Cancer PMID: 12746844
Ehlers-Danlos syndrome KEGG: H00802, OMIM: 153454
Endometriosis PMID: 21764500
Female infertility PMID: 11561744
Fertile eunuch syndrome PMID: 14709845
Fertilization failure PMID: 2911426
Hirsutism PMID: 3938829
Hyperandrogenism PMID: 25111116
Hypogonadism PMID: 16358135
Hypogonadotropic hypogonadism PMID: 12715431
Hypopituitarism KEGG: H01700
Luteal phase defects (LPD) PMID: 2506215
Male infertility PMID: 686399
Male pseudohermaphroditism (MPH) PMID: 127543
Maturation arrest (MA) PMID: 8647538
Mayer-Rokitansky-Kuster-Hauser syndrome PMID: 19101883
Menstrual disorders PMID: 7720944
Nevo syndrome KEGG: H00980
Oligoasthenoteratozoospermia PMID: 23933342
Oligomenorrhea PMID: 19890128
Oligozoospermia PMID: 12931371
Osteoporosis PMID: 19442614
Ovulatory dysfunction PMID: 12734546
Partial androgen insensitivity syndrome (PAIS) PMID: 22412043
Endometriosis associated infertility INFBASE21764500
Polycystic ovary syndrome (PCOS) INFBASE9457942
Endometriosis INFBASE9457942
Polycystic ovary syndrome (PCOS) PMID: 21575449
Premature ovarian failure ( POF) PMID: 9935123
Secondary amenorrhea PMID: 18092428
Sertoli cell-only syndrome (SCOS) PMID: 23013062
Spermatogenetic defects PMID: 1727547
Unexplained infertility PMID: 9314906
Varicocele PMID: 12653784

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
21764500 Endometrio
sis
 LHB G+1730A, ERB G+1730A
201 infertile w
omen with endom
etriosis, 80 in
fertile women w
ithout endometr
iosis, 206 fert
ile women as co
ntrols
Female infertility PR (PROGINS)
ERB
LHB
Show abstract
20430510 Endometrio
sis
 G1502A
110 infertile w
omen with endom
etriosis, 84 in
fertile women w
ithout endometr
iosis, a contro
l group consist
ing 209 healthy
fertile women
 Female infertility
Show abstract
9457942 Endometrio
sis
 G1502A ->G102S
264 (212 fertil
e, 40 infertile
women with men
strual disorder
s, polycystic o
vary syndrome,
and endometrios
is, 12 women wi
th idiopathic i
nfertility)
 Female infertility, endometriosis-associated infertility
Show abstract
12042273 Endometrio
sis
230 (85 women w
ith endometrios
is, 145 women w
ithout endometr
iosis)
 LH
 Show abstract
12765343 Endometrio
sis

LH
 Show abstract