Gene
TSHB
thyroid stimulating hormone subunit beta
- HGNC 12372↗(opens in a new tab)
- Ensembl gene ENSG00000134200↗(opens in a new tab)
- NCBI Gene 7252↗(opens in a new tab)
Summary
- Cytogenetic location
- 1p13.2
- Coordinates
- Chromosome 1: 115,029,826–115,034,302 (GRCh38)
- Exons
- 3 exons across 4.5 kb
- Protein
- 138 amino acids
- MANE Select transcript
- ENST00000256592.3NM_000549.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Congenital Hypothyroidism
A thyroid hormone deficiency present from birth.
- 3 GenCC submitters rate it definitive or strong
Thyroid Cancer
- Hypothyroidism
Abnormally low levels of thyroid hormone.
- 3 GenCC submitters rate it definitive or strong
- Thyroid Gland Disorder
A disease involving the thyroid gland.
- 3 GenCC submitters rate it definitive or strong
How TSHB is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 0.5 kb of the gene's 4.5 kb; 417 of those bases code for the protein.
How a genome test reads TSHB
8
positions in TSHB where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 4.5 kb of TSHB, introns included, not only the 0.5 kb of exons.
Genes linked to the same conditions
- DUOX2dual oxidase 2Shares 3 conditions
- DUOXA2dual oxidase maturation factor 2Shares 3 conditions
- IGSF1immunoglobulin superfamily member 1Shares 3 conditions
- IRS4insulin receptor substrate 4Shares 3 conditions
- IYDiodotyrosine deiodinaseShares 3 conditions
- NKX2-5NK2 homeobox 5Shares 3 conditions
- PAX8paired box 8Shares 3 conditions
- SECISBP2SECIS binding protein 2Shares 3 conditions
- SLC26A4solute carrier family 26 member 4Shares 3 conditions
- SLC26A7solute carrier family 26 member 7Shares 3 conditions
- SLC5A5solute carrier family 5 member 5Shares 3 conditions
- TBL1Xtransducin beta like 1 X-linkedShares 3 conditions
Traits linked to TSHB
The Human Phenotype Ontology lists these as features of the rare conditions TSHB can cause. Each trait's page lists the other genes linked to it.
Abnormality of the endocrine system
- Decreased circulating T4 concentration
- Decreased thyroid-stimulating hormone level
- Underactive thyroid
- Increased pituitary glycoprotein hormone alpha subunit level
- Low thyroid gland function due to abnormal pituitary gland
- Reduced radioactive iodine uptake
- Small thyroid gland
- Increased circulating prolactin concentration
Show 1 more trait
Abnormality of the nervous system
- Decreased reflex response
- Motor delay
- Neurodevelopmental delay
- Attention deficit
- Clumsiness
- Lethargy
- Depression
- Intellectual disability
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). TSHB gene: thyroid stimulating hormone subunit beta. Retrieved 16 October 2026, from https://dantelabs.com/genes/tshb
Dante Labs. TSHB gene: thyroid stimulating hormone subunit beta [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/tshb
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