• 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
TRHR (HGNC:12299) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
thyrotropin releasing hormone receptor
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
21.25(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.27(Read more about gnomAD pLI score)
LOEUF
0.64(Read more about gnomAD LOEUF score)
Cytoband
8q23.1
Genomic Coordinates
GRCh37/hg19: chr8:110098814-110133794 NCBI Ensembl UCSC
GRCh38/hg38: chr8:109086585-109121565 NCBI Ensembl UCSC
MANE Select Transcript
NM_003301.7 ENST00000518632.2 (Read more about MANE Select)
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:9141550}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-11625
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • hypothyroidism, congenital, nongoitrous, 7 Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000008.10) (NC_000008.11)