TSHB Gene - Thyroid Stimulating Hormone Subunit Beta
Essential regulator of thyroid function and metabolism
Gene Information Card
| Symbol | TSHB |
|---|---|
| Full Name | Thyroid Stimulating Hormone Subunit Beta |
| Gene Type | protein-coding |
| Chromosomal Location | 1p13.2 |
| NCBI Gene ID | 7252 ncbi.nlm.nih.gov/gene/7252 |
| Ensembl ID | ENSG00000134294 |
| UniProt ID | P01222 |
| OMIM ID | 188540 |
| HGNC ID | 12372 |
| Aliases | TSH-B, TSH-BETA, TSHBETA |
Description
The TSHB gene encodes the beta subunit of thyroid-stimulating hormone (TSH), a glycoprotein hormone produced by the anterior pituitary. TSH regulates thyroid gland function by stimulating the synthesis and release of thyroid hormones (T3 and T4), which control metabolism, growth, and development. The beta subunit confers biological specificity to TSH, allowing it to bind to the TSH receptor.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital hypothyroidism due to TSH deficiency | Loss-of-function mutations in TSHB impair TSH synthesis, leading to insufficient thyroid hormone production and growth/developmental delay. | ClinVar, OMIM |
| Central hypothyroidism | Deficient TSH secretion due to TSHB mutations results in secondary hypothyroidism with low T4 and normal or low TSH. | ClinVar, OMIM |
| Isolated TSH deficiency | Mutations in TSHB cause isolated deficiency of TSH without other pituitary hormone abnormalities. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pituitary gland | 0.0 | Not detected (nTPM not applicable; TSHB is expressed in pituitary but not in GTEx bulk RNA-seq due to tissue specificity) |
| Thyroid gland | 0.0 | Not detected |
| Adrenal gland | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Pituitary cells (primary) | N/A | Expressed in thyrotrope cells of anterior pituitary |
| HeLa | 0.0 | Not expressed |
| HEK293 | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.373A>G (p.Thr125Ala) | Missense | Rare | Reduced TSH bioactivity; associated with central hypothyroidism |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of TSH production; congenital hypothyroidism |
| c.217G>A (p.Gly73Arg) | Missense | Rare | Impaired subunit assembly and secretion |
Mutation functional classification
Loss of Function (LOF)
Most TSHB mutations are loss-of-function, leading to reduced or absent TSH activity and hypothyroidism.
Gain of Function (GOF)
No gain-of-function mutations reported in TSHB.
Dominant Negative (DN)
No dominant-negative effects described; TSHB mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • hormone activity | • thyroid-stimulating hormone activity |
| • extracellular space | • signal transduction |
| • cell-cell signaling |
Pathways
• Thyroid hormone synthesis
• Hypothalamic-pituitary-thyroid axis
• G protein-coupled receptor signaling pathway
Protein Summary
The TSHB protein is a 138-amino acid polypeptide that forms the beta subunit of thyroid-stimulating hormone. It is synthesized in thyrotrope cells of the anterior pituitary and non-covalently associates with the common alpha subunit (CGA) to form the mature TSH heterodimer. The beta subunit determines receptor specificity and is essential for TSH binding to the TSH receptor on thyroid follicular cells, triggering thyroid hormone production.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TSHB Knockout HEK293 Cell Line | EDJ-KQ1764 | Human | 7252 | Details Get a Quote |
| TSHB Knockout HeLa Cell Line | EDJ-KQ54697 | Human | 7252 | Details Get a Quote |
| TSHB Knockout A-549 Cell Line | EDJ-KQ63184 | Human | 7252 | Details Get a Quote |
| TSHB Knockout HCT 116 Cell Line | EDJ-KQ71656 | Human | 7252 | Details Get a Quote |
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