TRHR (thyrotropin releasing hormone receptor)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7201
Gene name Gene Name - the full gene name approved by the HGNC.
Thyrotropin releasing hormone receptor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TRHR
Synonyms (NCBI Gene) Gene synonyms aliases
CHNG7, TRH-R
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q23.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
188545 12299 ENSG00000174417
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hypothyroidism Hypothyroidism, congenital, nongoitrous, 7 rs1586182912, rs121917847, rs1586182837, rs771222349 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Show/Hide Text Mining Associations (8)
Associations from Text Mining Disease 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