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

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 s
OMIM 152780

SNPs
rs786204822

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.49016546C>A
NC_000019.10   g.49016546C>G
NC_000019.9   g.49519803C>A
NC_000019.9   g.49519803C>G
NG_033041.1   g.27648C>A
NG_033041.1   g.27648C>G
NG_011464.1   g.5545G>T
NG_011464.1   g.5545G>C|SEQ=[C/A/G]|GENE=LHB

rs34349826

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.49016626A>G
NC_000019.9   g.49519883A>G
NG_033041.1   g.27728A>G
NG_011464.1   g.5465T>C
NM_000894.3   c.104T>C
NM_000894.2   c.104T>C
NP_000885.1   p.Ile35Thr|SEQ=[A/G]|GENE=LHB

rs6521

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.49016616G>A
NC_000019.10   g.49016616G>C
NC_000019.10   g.49016616G>T
NC_000019.9   g.49519873G>A
NC_000019.9   g.49519873G>C
NC_000019.9   g.49519873G>T
NG_033041.1   g.27718G>A
NG_033041.1   g.27718G>C
NG_033041.1   g.27718G>T
NG_011464.1   g.5475C>T
  

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: Widely expressed, notably in heart, kidney, placenta, prostate, skeletal muscle, testis and thymus, although the precise isoform varies according to tissue type. Progenitor cell layers of skin, breast, eye and prostate express high lev

Sequence MEMLQGLLLLLLLSMGGAWASREPLRPWCHPINAILAVEKEGCPVCITVNTTICAGYCPTMMRVLQAVLPPLPQV
VCTYRDVRFESIRLPGCPRGVDPVVSFPVALSCRCGPCRRSTSDCGGPKDHPLTCDHPQLSGLLFL
Structural information
Interpro:  IPR029034  IPR006208  IPR001545  IPR018245  
Prosite:   PS00261 PS00689
CDD:   cd00069

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

Gene ontology

Expand All | Collapse All
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

Expand All | Collapse All

Pathway idPathway name
hsa04080Neuroactive ligand-receptor interaction
hsa04929GnRH secretion
hsa04912GnRH signaling pathway
hsa04913Ovarian steroidogenesis
hsa04917Prolactin signaling pathway

Diseases

Expand All | Collapse All
Associated diseases References
Cancer GAD: 12746844
Cancer (prostate) GAD: 16103457
Hyperandrogenism INFBASE: 20378617
Obesity GAD: 20734064
Bone diseases GAD: 19453261
Alzheimer's disease GAD: 18439297
Autism GAD: 19598235
Endometriosis GAD: 20430510
Ovulatory disorders GAD: 12734546
Anovulation INFBASE: 5014982
Menstrual disorders INFBASE: 7720944
Endometrial polyp INFBASE: 11561744
Female infertility INFBASE: 9886510
Luteinized unruptured follicle syndrome INFBASE: 3781002
Secondary amennorhea INFBASE: 18092428
Primary amenorrhoea INFBASE: 10468997
Secondary amennorhea INFBASE: 10468997
Polycystic ovary syndrome (PCOS) INFBASE: 22349439
Hirsutism INFBASE: 3938829
Hypogonadotropic hypogonadism INFBASE: 12715431
Luteal phase defect INFBASE: 8150106
Oligomenorrhea INFBASE: 10468997
Polycystic ovary syndrome (PCOS) INFBASE: 25111116
Ovarian reserve INFBASE: 19617206
Premature ovarian failure (POF) INFBASE: 9935123
Unexplained infertility INFBASE: 9314906
Ovulatory disorders INFBASE: 12734546
Oligoamenorrhea INFBASE: 11720900
MRKH syndrome (congenital uterus and vaginal aplasia) INFBASE: 19101883
Partial androgen insensitivity syndrome (PAIS) MIK: 22412043
Absence of virilization MIK: 19890128
Oligoasthenoteratozoospermia MIK: 12620433
Azoospermia MIK: 22723313
Fertile eunuch syndrome MIK: 14709845
Oligoasthenoteratozoospermia MIK: 23933342
Male sexual development MIK: 18404998
Hypogonadotropic hypogonadism MIK: 1730329
Hypogonadotropic hypogonadism MIK: 18404998
Oligoasthenozoospermia MIK: 9804230
Sperm concentration and motility MIK: 3079622
Sperm DNA fragmentation MIK: 24625916
Maturation arrest MIK: 23013062
Male pseudohermaphroditism MIK: 127543
Male factor infertility MIK: 686399
Sperm output MIK: 3101547
Male factor infertility MIK: 9075724
Oligozoospermia MIK: 12931371
Mixed atrophy MIK: 23013062
Sertoli cell only syndrome (SCOS) MIK: 23013062
Spermatogenesis defects MIK: 1727547
Polycystic ovary syndrome (PCOS) MIK: 8298514
Varicocele MIK: 12653784
Oligozoospermia MIK: 12620433
Maturation arrest MIK: 8647538
Anovulation INFBASE: 1814658
Azoospermia MIK: 10407645
Hypogonadotropic hypogonadism MIK: 15602022
Female infertility INFBASE: 8298514
Fertilizing defects INFBASE: 2911426
Good quality oocytes INFBASE: 15847146
Hypospermatogenesis MIK: 23013062
Endometriosis INFBASE: 12042273
Hypopituitarism KEGG: H01700
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Azoospermia MIK: 22723313
Hypogonadism MIK: 22723313
Oligoasthenoteratozoospermia MIK: 12620433
Oligozoospermia MIK: 12620433
Fertile eunuch syndrome MIK: 14709845
Hypogonadism MIK: 15602022
Spermatogenetic defects MIK: 1727547
idiopathic hypogonadotropic hypogonadism (IHH) MIK: 1730329
Oligoasthenozoospermia MIK: 9804230
Male hypogonadism MIK: 29476300
Male infertility MIK: 10739843

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
22723313 Infertilit
y
 12-base deletion in exon 2 (28_39del), G?T substitution at the +1 position of intron 2 (IVS2 + 1G?T), a 5? splice-donor site Chilean
 1 azoospermic,
1 oligomenorrhe
a
 Male infertility, Female infertility
Show abstract
21806667 Infertilit
y
 Gly102Ser Egyptia
n
 50 idiopathic o
ligozoospermia,
39 control
 Male infertility
Show abstract
19890128 Infertilit
y
 nine­base deletion in exon 2, resulting in a deletion of amino acids 10 to 12 (histidine–proline–isoleucine) in LHb
2 affected, 3 n
ormal
Male infertility, Female infertility
Show abstract
17761593 Infertilit
y
 5? splice site in LHB: IVS2+1G?C Brazili
an
 3 affected
 Male infertility, Female infertility
Show abstract
16358135 Infertilit
y
 Trp8Arg, Ile15Thr Brazili
an
 202 controls (1
15 female, 87 m
ale), 48 patien
ts (24 male, 24
female )
 Male infertility, Female infertility
Show abstract
14709845 Infertilit
y
 Trp8Arg, Ile15Thr
1 patient
 Male infertility
Show abstract
12189497 Infertilit
y
 Gly102Ser

Male infertility, Female infertility
Show abstract
9075724 Infertilit
y
 Q54R

Female infertility, Male infertility
Show abstract
14709845 Fertile eu
nuch syndr
ome
 Trp8Arg and Ile15Thr mutations in the LH beta subunit gene
1 Fertile eunuc
h syndrome
 Male infertility
Show abstract
12620433 azoospermi
a, oligoas
thenoterat
ozoospermi
a, oligozo
ospermia
 LHB (Trp8Arg, Ile15Thr, and Gly102Ser) Korean
 295 (95 nonobst
ructive male in
fertile patient
s (75 with azoo
spermia, 18 wit
h oligoasthenot
eratozoospermia
, and two with
oligozoospermia
), 200 healthy
fertile control
men )
 Male infertility
Show abstract
1727547 Hypogonadi
sm, Sperma
togenetic
defects
 R54N of the LH? subunit
4 infertile
 Male infertility
Show abstract
1730329 idiopathic
hypogonad
otropic hy
pogonadism
 (IHH)

Male infertility FSH beta
LH beta
GnRH
 Show abstract
15602022 Hypogonadi
sm
 LHB (G36D)

Male infertility LHB
 Show abstract
9804230 Idiopathic
oligoasth
enozoosper
mia
30 (10 with pro
ven fertility,
10 oligoasthen
ozoospermic (OA
Z) with an alte
red altered mon
ophasic (no fir
st peak) respon
se, 10 oligoast
henozoospermic
(OAZ) with a no
rmal biphasic r
esponse)
 Male infertility LH 
 Show abstract
9583358 Oligozoosp
ermia, Azo
ospermia
101 (31 normozo
ospermic, 57 ol
igozoospermic,
13 azoospermic
men)
 Male infertility interferon alpha
 Show abstract
29476300 Male hypog
onadism
 c.84G>A[p.W28X]
1 patient with
male hypogonadi
sm
 Male infertility LHB
 Show abstract
10739843 Male infer
tility
 Gly102Ser Singapo
re Chin
ese
 345 (145 infert
ile men, 200 he
althy fertile m
en)
 Male infertility
Show abstract
30173455 Male infer
tility
 rs34349826 (c.104 A>G), rs6521 (c.114 C>G) Chinese
 829 (405 males
with primary in
fertility (the
infertility gro
up), 424 normal
fertile men (t
he control grou
p))
 Male infertility
Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm
18
 Male infertility GSE26881
 Show abstract
22412043 PAIS
14 male patient
s with partial
androgen insens
itivity syndrom
e (PAIS)
 Male infertility
Show abstract
686399 Male infer
tility
126 (105 men at
tending a male
infertility, 21
men of proven
fertility contr
ols)
 Male infertility FSH
LH
PRL
 Show abstract
127543 Male pseud
ohermaphro
ditism
1 male pseudohe
rmaphrodite
 Male infertility LH
FSH
17 beta hydroxysteroid dehydrogenase
 Show abstract
24625916 Sperm DNA
fragmentat
ion
186 men treated
for infertilit
y
 Male infertility
Show abstract
18404998 Hypogonadi
sm, male s
exual matu
ration and
fertility
 LHbeta gene (G36D)
2 patients with
delayed pubert
y and infertili
ty
 Male infertility LH
 Show abstract
12931371 Azoospermi
a, Oligosp
ermia
150 (50 male pa
tients with idi
opathic azoospe
rmia, 50 in idi
opathic oligosp
ermia and 50 ma
le controls)
 Male infertility LH
FSH
 Show abstract
23013062 Sertoli ce
ll only sy
ndrome (cS
COS), matu
ration arr
est, hypos
permatogen
esis, mixe
d atrophy,
severe at
rophy
261 (193 azo?ol
igozoospermic p
atients (76 ser
toli cell only
syndrome (cSCOS
), 31 focal SCO
S, 34 maturatio
n arrest, 17 hy
pospermatogenes
is, 25 mixed at
rophy, 10 sever
e atrophy), 68
infertile men (
controls))
 Male infertility FSH
LH
 Show abstract
17722815 Male infer
tility
 Nigeria
 100 (60 inferti
le adult male N
igerians (40 Ol
igospermic, 20
azoopermic), 40
normospermic c
ontrols of prov
en fertility
 Male infertility LH
FSH
 Show abstract
12653784 Varicocele
55 (36 patients
with varicocel
e (Va), 7 non-o
bstructive azoo
spermic men (Az
), 12 with cont
rol group)
 Male infertility FSH
LH
INHB
 Show abstract
10407645 Azoospermi
a
96 azoospermic
men
 Male infertility LH
FSH
 Show abstract
8647538 Maturation
arrest at
the sperm
atid stage
41 azoospermic,
infertile men
 Male infertility FSH
LH
 Show abstract
1860676 Male infer
tility, Az
oospermia,
Oligozoos
ppermia

Male infertility LH
FSH
Inhibin
 Show abstract
3101547 Male infer
tlity, Spe
rm output
533 (250 with l
eft side varico
cele, 250 witho
ut left side va
ricocele, 33 fe
rtile men)
 Male infertility LH
 Show abstract
3079622 Sperm cell
concentra
tion and m
otility

Male infertility LH
FSH
 Show abstract
11379442 Male infer
tility
70 (39 fertile
men, 31 inferti
le men)
 Male infertility EGF
LH
FSH
prolactin
 Show abstract
8298514 Anovulatio
n, PCOS
58 (24 women se
en because of h
irsutism were f
ound to have ov
arian dysfuncti
on based on cli
nical signs suc
h as anovulatio
n and irregular
menstrual cycl
es)
 Femal infertility LH
 Show abstract
8474219 PCOS
142 (125 patien
ts with polycys
tic ovaries, 17
controls)
 Femal infertility LH
 Show abstract
1287208 PCOS
30 (9 normal cy
cling women in
the follicular
phase, 10 norma
l cycling women
in the luteal
phase, 11 women
with PCOS)
 Femal infertility LH
DHEAS
 Show abstract
23933342 Oligoasthe
noteratozo
ospermia (
OAT) syndr
ome
96 patients wit
h idiopathic or
varicocele-rel
ated OAT
 Male infertility PRL
FSH
LH
 Show abstract