TRHR (thyrotropin releasing hormone receptor)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 7201
Gene name Thyrotropin releasing hormone receptor
Gene symbol TRHR
Synonyms (NCBI Gene)
CHNG7TRH-R
Chromosome 8
Chromosome location 8q23.1
Summary This gene encodes a G protein-coupled receptor for thyrotropin-releasing hormone (TRH). Upon binding to TRH, this receptor activates the inositol phospholipid-calcium-protein kinase C transduction pathway. Mutations in this gene have been associated with
SNPs SNP information provided by dbSNP.
4
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs121917847 C>T Pathogenic Stop gained, coding sequence variant
rs771222349 T>A,C Pathogenic Missense variant, coding sequence variant
rs1586182837 C>G Pathogenic Missense variant, coding sequence variant
rs1586182912 TCAATAACAG>A Pathogenic Inframe indel, coding sequence variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (12)
GO ID Ontology Definition Evidence Reference
GO:0004930 Function G protein-coupled receptor activity IEA
GO:0004997 Function Thyrotropin-releasing hormone receptor activity IBA
GO:0004997 Function Thyrotropin-releasing hormone receptor activity IEA
GO:0004997 Function Thyrotropin-releasing hormone receptor activity TAS 8395824
GO:0005515 Function Protein binding IPI 28514442, 32296183, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
188545 12299 ENSG00000174417
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P34981
Protein name Thyrotropin-releasing hormone receptor (TRH-R) (Thyroliberin receptor)
Protein function Receptor for thyrotropin-releasing hormone (TRH). Upon ligand binding, this G-protein-coupled receptor triggers activation of the phosphatidylinositol (IP3)-calcium-protein kinase C (PKC) pathway. {ECO:0000269|PubMed:26735259, ECO:0000269|PubMed
PDB 7WKD , 7X1T , 7X1U , 7XW9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00001 7tm_1 42 → 320 7 transmembrane receptor (rhodopsin family) Family
Sequence
Sequence length 398
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Calcium signaling pathway
Neuroactive ligand-receptor interaction
Hormone signaling 		  Peptide ligand-binding receptors
G alpha (q) signalling events
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hypothyroidism, congenital, nongoitrous, 7 Likely pathogenic; Pathogenic rs1586182912, rs121917847, rs1586182837, rs771222349 RCV004577711
RCV004577712
RCV004577917
RCV004577918
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
TRHR-related disorder Likely benign; Benign rs769220033, rs202086229, rs5775 RCV003909595
RCV003971873
RCV003920686
Show/Hide Text Mining Associations (8)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acromegaly Associate 14599121
Adenoma Associate 14599121
Autism Spectrum Disorder Associate 28358038
Congenital Hypothyroidism Associate 34200080
Hypothyroidism Associate 26735259, 27603907, 28515030, 32319661
Migraine Disorders Associate 32968778
Obesity Associate 33668547
Sarcopenia Associate 32076017