FSHB (follicle stimulating hormone subunit beta)

Gene

• Entrez ID: 2488
• Gene name: Follicle stimulating hormone subunit beta
• Gene symbol: FSHB
• Synonyms (NCBI Gene): HH24
• Chromosome: 11
• Chromosome location: 11p14.1
• Summary: 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 sub

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT643776	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT643775	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT643774	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT643773	hsa-miR-3121-5p	HITS-CLIP	23824327
MIRT643772	hsa-miR-616-3p	HITS-CLIP	23824327
MIRT643771	hsa-miR-3671	HITS-CLIP	23824327
MIRT643770	hsa-miR-607	HITS-CLIP	23824327
MIRT643776	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT643775	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT643774	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT643773	hsa-miR-3121-5p	HITS-CLIP	23824327
MIRT643772	hsa-miR-616-3p	HITS-CLIP	23824327
MIRT643771	hsa-miR-3671	HITS-CLIP	23824327
MIRT643770	hsa-miR-607	HITS-CLIP	23824327
MIRT643776	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT643775	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT643774	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT643773	hsa-miR-3121-5p	HITS-CLIP	23824327
MIRT643772	hsa-miR-616-3p	HITS-CLIP	23824327
MIRT643771	hsa-miR-3671	HITS-CLIP	23824327
MIRT643770	hsa-miR-607	HITS-CLIP	23824327
MIRT643776	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT643775	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT643774	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT643773	hsa-miR-3121-5p	HITS-CLIP	23824327
MIRT643772	hsa-miR-616-3p	HITS-CLIP	23824327
MIRT643771	hsa-miR-3671	HITS-CLIP	23824327
MIRT643770	hsa-miR-607	HITS-CLIP	23824327
MIRT1005478	hsa-miR-25	CLIP-seq
MIRT1005479	hsa-miR-32	CLIP-seq
MIRT1005480	hsa-miR-363	CLIP-seq
MIRT1005481	hsa-miR-367	CLIP-seq
MIRT1005482	hsa-miR-411	CLIP-seq
MIRT1005483	hsa-miR-4727-5p	CLIP-seq
MIRT1005484	hsa-miR-4769-3p	CLIP-seq
MIRT1005485	hsa-miR-499a-5p	CLIP-seq
MIRT1005486	hsa-miR-92a	CLIP-seq
MIRT1005487	hsa-miR-92b	CLIP-seq
MIRT1005488	hsa-miR-936	CLIP-seq
MIRT1997994	hsa-miR-186	CLIP-seq
MIRT1997995	hsa-miR-3133	CLIP-seq
MIRT1997996	hsa-miR-4263	CLIP-seq
MIRT1997997	hsa-miR-4436a	CLIP-seq
MIRT1997998	hsa-miR-576-5p	CLIP-seq
MIRT1005482	hsa-miR-411	CLIP-seq
MIRT1005483	hsa-miR-4727-5p	CLIP-seq
MIRT1005484	hsa-miR-4769-3p	CLIP-seq
MIRT2231549	hsa-miR-499-3p	CLIP-seq
MIRT2231550	hsa-miR-499a-3p	CLIP-seq
MIRT1005488	hsa-miR-936	CLIP-seq
MIRT2231549	hsa-miR-499-3p	CLIP-seq
MIRT2231550	hsa-miR-499a-3p	CLIP-seq
MIRT1005478	hsa-miR-25	CLIP-seq
MIRT1005479	hsa-miR-32	CLIP-seq
MIRT1005480	hsa-miR-363	CLIP-seq
MIRT1005481	hsa-miR-367	CLIP-seq
MIRT1005485	hsa-miR-499a-5p	CLIP-seq
MIRT1005486	hsa-miR-92a	CLIP-seq
MIRT1005487	hsa-miR-92b	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
FOXO1	Repression	24065703
LHX3	Activation	23766128
LHX3	Unknown	15271874
PITX1	Unknown	18339718
PITX2	Unknown	18339718

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001541	Process	Ovarian follicle development	IEA
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005179	Function	Hormone activity	IEA
GO:0005515	Function	Protein binding	IPI	11222739, 15662415, 22802634
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	2494176, 24692546
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	14602737
GO:0005737	Component	Cytoplasm	IEA
GO:0006701	Process	Progesterone biosynthetic process	TAS	14557487
GO:0007165	Process	Signal transduction	IEA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IEP	14557487
GO:0007186	Process	G protein-coupled receptor signaling pathway	IDA	24692546
GO:0007283	Process	Spermatogenesis	IEA
GO:0007292	Process	Female gamete generation	TAS	8220432
GO:0007565	Process	Female pregnancy	TAS	8220432
GO:0008284	Process	Positive regulation of cell population proliferation	NAS	20613903
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010893	Process	Positive regulation of steroid biosynthetic process	IDA	2494176
GO:0016913	Function	Follicle-stimulating hormone activity	IBA
GO:0016913	Function	Follicle-stimulating hormone activity	IDA	2494176, 24692546
GO:0016913	Function	Follicle-stimulating hormone activity	IMP	11514332
GO:0016914	Component	Follicle-stimulating hormone complex	IDA	2494176, 24692546
GO:0016914	Component	Follicle-stimulating hormone complex	IPI	11222739
GO:0030335	Process	Positive regulation of cell migration	NAS	20613903
GO:0042699	Process	Follicle-stimulating hormone signaling pathway	IBA
GO:0042699	Process	Follicle-stimulating hormone signaling pathway	IEA
GO:0042699	Process	Follicle-stimulating hormone signaling pathway	NAS	11222739
GO:0045670	Process	Regulation of osteoclast differentiation	IEA
GO:0045780	Process	Positive regulation of bone resorption	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	NAS	20613903
GO:0060011	Process	Sertoli cell proliferation	IEA

Other IDs

• MIM: 136530
• HGNC: 3964
• e!Ensembl: ENSG00000131808

Protein

• UniProt ID: P01225
• Protein name: Follitropin subunit beta (Follicle-stimulating hormone beta subunit) (FSH-B) (FSH-beta) (Follitropin beta chain)
• Protein function: Together with the alpha chain CGA constitutes follitropin, the follicle-stimulating hormone, and provides its biological specificity to the hormone heterodimer. Binds FSHR, a G protein-coupled receptor, on target cells to activate downstream sig
• PDB: 1FL7, 1XWD, 4AY9, 4MQW, 8I2G
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00007	Cys_knot	18 → 122	Cystine-knot domain	Domain

• Sequence:

  MKTLQFFFLFCCWKAICCNSCELTNITIAIEKEECRFCISINTTWCAGYCYTRDLVYKDP
  ARPKIQKTCTFKELVYETVRVPGCAHHADSLYTYPVATQCHCGKCDSDSTDCTVRGLGPS
  YCSFGEMKE

• Sequence length: 129

Pathways

KEGG:

cAMP signaling pathway
Neuroactive ligand-receptor interaction
Hormone signaling
GnRH signaling pathway
Ovarian steroidogenesis

Reactome:

Glycoprotein hormones
Hormone ligand-binding receptors
G alpha (s) signalling events
ADORA2B mediated anti-inflammatory cytokines production

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Hypogonadotropic hypogonadism 24 without anosmia	Pathogenic; Likely pathogenic	rs5030777, rs5030646, rs5030776, rs121909666, rs374623109	RCV000169745 RCV000017627 RCV000017628 RCV000017629 RCV000497015	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMENORRHEA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOLLICLE-STIMULATING HORMONE DEFICIENCY, ISOLATED	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FSHB-related disorder	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADOTROPIC HYPOGONADISM 24 WITH OR WITHOUT ANOSMIA	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFERTILITY, FEMALE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFERTILITY, MALE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoma	Adenoma	BEFREE	26884293		★☆☆☆☆ Found in Text Mining only
Atrophy of testis	Testicular atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	12161499, 23184658, 30668782		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	32096339	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central Precocious Puberty	Central Precocious Puberty	BEFREE	20869425		★☆☆☆☆ Found in Text Mining only
Choroid Plexus Papilloma	Choroid Plexus Papilloma	BEFREE	20869425		★☆☆☆☆ Found in Text Mining only
Delayed menarche	Delayed menarche	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	37544299	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	8504754		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	26732621, 28537267, 28901453		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	26732621, 28901453, 34659133, 36430184, 37909652	Associate	★☆☆☆☆ Found in Text Mining only
Female hypogonadism syndrome	Female Hypogonadism Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Follicle stimulating hormone deficiency	Follicle Stimulating Hormone Deficiency	ORPHANET_DG	15705395		★☆☆☆☆ Found in Text Mining only
Follicle-stimulating hormone deficiency, isolated	Follicle stimulating hormone deficiency	GENOMICS_ENGLAND_DG	12161499		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Follicle-stimulating hormone deficiency, isolated	Follicle stimulating hormone deficiency	ORPHANET_DG	15705395		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Follicle-stimulating hormone deficiency, isolated	Follicle stimulating hormone deficiency	BEFREE	28392474		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Follicle-stimulating hormone deficiency, isolated	Follicle stimulating hormone deficiency	CLINVAR_DG	28392474, 8220432, 9271483, 9280841, 9624193		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Follicle-stimulating hormone deficiency, isolated	Follicle stimulating hormone deficiency	UNIPROT_DG	8220432, 9271483, 9280841		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Follicle-stimulating hormone deficiency, isolated	Follicle stimulating hormone deficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gonadotropin deficiency	Gonadotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	CTD_human_DG	18449926, 24739304, 8263139		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism	Hypogonadism	Pubtator	26445243	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism	Hypogonadism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism, Isolated Hypogonadotropic	Hypogonadism	CTD_human_DG	18449926, 24739304, 8263139		★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	CTD_human_DG	18449926, 24739304, 8263139		★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism	Pubtator	1730329	Associate	★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	26732621, 34992580	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	22000911, 26445243, 26732621	Associate	★☆☆☆☆ Found in Text Mining only
Isolated follicle stimulating hormone deficiency	Isolated Follicle Stimulating Hormone Deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Lateral Medullary Syndrome	Lateral Medullary Syndrome	CTD_human_DG	17344003		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	30021121		★☆☆☆☆ Found in Text Mining only
Malignant Testicular Germ Cell Tumor	Malignant testicular germ cell tumor	BEFREE	29179257		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	2550179		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	2347591, 7522041		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	11119757	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29440419		★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	23118424		★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	CTD_human_DG	4607150		★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	29236987, 29440419		★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	8224270		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	25528498	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	28493941		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	26884293, 2824561	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	11119757, 26284813, 26416764, 26732621, 26908109, 27042970, 28068351, 32591571	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	26284813, 26416764, 26732621, 26908109, 26938199, 27042970, 28068351		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	31549864	Stimulate	★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	8224270		★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	CTD_human_DG	18449926, 24739304, 8263139		★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	25313736		★☆☆☆☆ Found in Text Mining only
Subfertility, Female	Subfertility	CTD_human_DG	8220432		★☆☆☆☆ Found in Text Mining only
Teratozoospermia	Teratozoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular hypogonadism	Testicular Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	BEFREE	28392474		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	27179787		★☆☆☆☆ Found in Text Mining only