Entity Details

Primary name TRFR_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP34981
EntryNameTRFR_HUMAN
FullNameThyrotropin-releasing hormone receptor
TaxID9606
Evidenceevidence at protein level
Length398
SequenceStatuscomplete
DateCreated1994-02-01
DateModified2021-06-02

Ontological Relatives

GenesTRHR

GO terms

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GOName
GO:0004997 thyrotropin-releasing hormone receptor activity
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0007186 G protein-coupled receptor signaling pathway
GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway

Subcellular Location

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Subcellular Location
Cell membrane

Domains

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DomainNameCategoryType
IPR000276 G protein-coupled receptor, rhodopsin-likeFamilyFamily
IPR002120 Thyrotropin-releasing hormone receptorFamilyFamily
IPR017452 GPCR, rhodopsin-like, 7TMDomainDomain

Diseases

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Disease IDSourceNameDescription
618573 OMIMHypothyroidism, congenital, non-goitrous, 7 (CHNG7)A form of central hypothyroidism, a disorder characterized by sub-optimal thyroid hormone secretion, due to insufficient stimulation by thyrotropin of an otherwise normal thyroid gland. It may be caused by congenital or acquired disorders of the pituitary gland or hypothalamus. CHNG7 is a congenital, autosomal recessive form characterized by normal-to-low T4 and normal-to-high thyrotropin levels, and reduced or absent pituitary responsiveness to thyrotropin-releasing hormone. Patients may exhibit short stature, growth retardation, and delayed bone age, as well as lethargy or fatigue. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB09421 ProtirelinDrugbanksmall molecule