Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 2488
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol FSHB   Gene   UCSC   Ensembl
Aliases HH24
Gene name follicle stimulating hormone beta subunit
Alternate names follitropin subunit beta, FSH-B, FSH-beta, follicle stimulating hormone, beta polypeptide, follitropin, beta chain,
Gene location 11p14.1 (30231015: 30235276)     Exons: 3     NC_000011.10
Gene summary(Entrez) The pituitary glycoprotein hormone family includes follicle-stimulating hormone, luteinizing hormone, chorionic gonadotropin, and thyroid-stimulating hormone. All of these glycoproteins consist of an identical alpha subunit and a hormone-specific beta subunit. This gene encodes the beta subunit of follicle-stimulating hormone. In conjunction with luteinizing hormone, follicle-stimulating hormone induces egg and sperm production. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
OMIM 136530

SNPs

rs10835638

Strand:    Allele origin: G(germline)/T(germline,somatic)   Allele change: A/G/T   Mutation type: snp

CM000673.2   g.30230805G>A
CM000673.2   g.30230805G>T
NC_000011.10   g.30230805G>A
NC_000011.10   g.30230805G>T
NC_000011.9   g.30252352G>T
NG_008144.1   g.4790G>A
NG_008144.1   g.4790G>T
NM_000510.2   c.-280G>A
NM_000510.2   c.-280G>T
NM_001018080.1   c.-250G>A
NM_001018080.1   c.-250G>T
XR_931152.2   n.463+86085C>A
XR_931152.2   n.463+86085C>T
Clinical Significance: other

Protein Summary

Protein general information P01225  

Name: Follitropin subunit beta (Follicle stimulating hormone beta subunit) (FSH B) (FSH beta) (Follitropin beta chain)

Length: 129  Mass: 14,700

Sequence MKTLQFFFLFCCWKAICCNSCELTNITIAIEKEECRFCISINTTWCAGYCYTRDLVYKDPARPKIQKTCTFKELV
YETVRVPGCAHHADSLYTYPVATQCHCGKCDSDSTDCTVRGLGPSYCSFGEMKE
Structural information
Interpro:  IPR029034 IPR006208 IPR001545 IPR018245
Prosite:   PS00261 PS00689

Pfam:  
PF00007
CDD:   cd00069

PDB:  
1FL7 1XWD 4AY9 4MQW
PDBsum:   1FL7 1XWD 4AY9 4MQW

DIP:  
35604
STRING:   ENSP00000254122;
Other Databases GeneCards:  FSHB;  Malacards:  FSHB

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0005179 hormone activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
NAS 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:0005737 cytoplasm
IDA cellular_component
GO:0006701 progesterone biosynthetic
process
TAS biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
IEP biological_process
GO:0007292 female gamete generation
TAS biological_process
GO:0007565 female pregnancy
TAS biological_process
GO:0008284 positive regulation of ce
ll proliferation
NAS biological_process
GO:0016486 peptide hormone processin
g
TAS biological_process
GO:0016913 follicle-stimulating horm
one activity
IMP molecular_function
GO:0030335 positive regulation of ce
ll migration
NAS biological_process
GO:0042699 follicle-stimulating horm
one signaling pathway
IEA biological_process
GO:0045670 regulation of osteoclast
differentiation
IEA biological_process
GO:0045780 positive regulation of bo
ne resorption
IEA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
NAS biological_process
GO:0060011 Sertoli cell proliferatio
n
IEA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0001541 ovarian follicle developm
ent
IEA biological_process
GO:0005179 hormone activity
IEA molecular_function
GO:0005179 hormone activity
IEA molecular_function
GO:0005179 hormone activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI 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
NAS 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:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0006701 progesterone biosynthetic
process
TAS biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
IEP biological_process
GO:0007292 female gamete generation
TAS biological_process
GO:0007565 female pregnancy
TAS biological_process
GO:0008284 positive regulation of ce
ll proliferation
NAS biological_process
GO:0016486 peptide hormone processin
g
TAS biological_process
GO:0016913 follicle-stimulating horm
one activity
IMP molecular_function
GO:0030335 positive regulation of ce
ll migration
NAS biological_process
GO:0042699 follicle-stimulating horm
one signaling pathway
IEA biological_process
GO:0045670 regulation of osteoclast
differentiation
IEA biological_process
GO:0045780 positive regulation of bo
ne resorption
IEA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
NAS biological_process
GO:0060011 Sertoli cell proliferatio
n
IEA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0005179 hormone activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
NAS 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:0005737 cytoplasm
IDA cellular_component
GO:0006701 progesterone biosynthetic
process
TAS biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
IEP biological_process
GO:0007292 female gamete generation
TAS biological_process
GO:0007565 female pregnancy
TAS biological_process
GO:0008284 positive regulation of ce
ll proliferation
NAS biological_process
GO:0016486 peptide hormone processin
g
TAS biological_process
GO:0016913 follicle-stimulating horm
one activity
IMP molecular_function
GO:0030335 positive regulation of ce
ll migration
NAS biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
NAS biological_process
GO:0070062 extracellular exosome
IDA cellular_component

KEGG pathways

hsa04080  Neuroactive ligand-receptor interaction
hsa04024  cAMP signaling pathway
hsa04913  Ovarian steroidogenesis
hsa04912  GnRH signaling pathway

Diseases

Associated diseases References
Autism PMID: 19598235
Azoospermia PMID: 22000911
Cancer PMID: 19064572
Diminished ovarian reserve (DOR) PMID: 21712737
Endometriosis PMID: 26732621
Female infertility PMID: 11735119
Hypogonadism PMID: 19966036
Hypogonadotropic hypogonadism OMIM: 136530
Idiopathic azoospermia PMID: 3116028
Idiopathic male infertility PMID: 3223459
Impaired spermatogenesis PMID: 21104644
Leydig cell dysfunction PMID: 3106397
Male hypogonadism PMID: 9624193
Male infertility PMID: 23766128
Male pseudohermaphroditism (MPH) PMID: 127543
Maturation arrest (MA) PMID: 8647538
Monorchidism PMID: 26671976
Non-obstructive azoospermia (NOA) PMID: 24602753
Oligoasthenoteratozoospermia PMID: 23933342
Oligoteratozoospermia PMID: 15037424
Oligozoospermia PMID: 22000911
Partial androgen insensitivity syndrome (PAIS) PMID: 22412043
Polycystic ovary syndrome (PCOS) PMID: 16691383
Polycystic ovary syndrome (PCOS) PMID: 11119757
Premature ovarian failure ( POF) PMID: 25330695, KEGG: H00627
Primary amenorrhea PMID: 11756367
Primary ovarian insufficiency (POI) PMID: 22729817
Female infertility INFBASE22384446
Endometriosis associated infertility INFBASE20553681
Endometriosis INFBASE19401003
Secondary amenorrhea PMID: 18092428
Sertoli cell-only syndrome (SCOS) PMID: 23013062
Spermatogenetic defects PMID: 11397833
Testicular anomalies PMID: 9806482
Unexplained infertility PMID: 9314906
Varicocele PMID: 21341585

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
26732621 Endometrio
sis
FSHB (rs10835638; c.-211G>T) British
129492 (63 350
women, 56 608 m
en, 9534 indivi
duals )
Female infertility
Show abstract
22384446 Endometrio
sis

43 (16 with end
ometriosis with
out surgical hi
story, 27 with
endometriosis w
ith surgical hi
story)
Female infertility AMH
FSH
Show abstract
19401003 Endometrio
sis

72 (34 with end
ometriosis, 38
without endomet
riosis)
AMH
FSH
TNF
GM-CSF
VEGF
Show abstract
20553681 Endometrio
sis

77 (27 were inf
ertile and had
endometriosis,
50 controls)
Female infertility FSH
Show abstract