Gene
TRHR
thyrotropin releasing hormone receptor
- HGNC 12299↗(opens in a new tab)
- Ensembl gene ENSG00000174417↗(opens in a new tab)
- NCBI Gene 7201↗(opens in a new tab)
Summary
- Cytogenetic location
- 8q23.1
- Coordinates
- Chromosome 8: 109,086,585–109,121,565 (GRCh38)
- Exons
- 3 exons across 35 kb
- Protein
- 398 amino acids
- MANE Select transcript
- ENST00000518632.2NM_003301.7
- 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.
- 2 GenCC submitters rate it definitive or strong
Thyroid Cancer
- Hypothyroidism
Abnormally low levels of thyroid hormone.
- 2 GenCC submitters rate it definitive or strong
- Thyroid Gland Disorder
A disease involving the thyroid gland.
- 2 GenCC submitters rate it definitive or strong
How TRHR is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 3.7 kb of the gene's 35 kb; 1,197 of those bases code for the protein.
How a genome test reads TRHR
6
positions in TRHR 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 35 kb of TRHR, introns included, not only the 3.7 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 TRHR
The Human Phenotype Ontology lists these as features of the rare conditions TRHR can cause. Each trait's page lists the other genes linked to it.
Abnormality of the endocrine system
- Decreased circulating free T3
- Decreased circulating T4 concentration
- Increased circulating prolactin concentration
- Low thyroid gland function due to abnormal pituitary gland
- Reduced circulating prolactin concentration
- Reduced radioactive iodine uptake
- Small thyroid gland
- Elevated circulating thyroid-stimulating hormone concentration
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.). TRHR gene: thyrotropin releasing hormone receptor. Retrieved 17 October 2026, from https://dantelabs.com/genes/trhr
Dante Labs. TRHR gene: thyrotropin releasing hormone receptor [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/trhr
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