Gene Gene information from NCBI Gene database.
Entrez ID 2693
Gene name Growth hormone secretagogue receptor
Gene symbol GHSR
Synonyms (NCBI Gene)
GHDPGHS-R1aGHSR-1a
Chromosome 3
Chromosome location 3q26.31
Summary This gene encodes a member of the G-protein coupled receptor family. The encoded protein may play a role in energy homeostasis and regulation of body weight. Two identified transcript variants are expressed in several tissues and are evolutionary conserve
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs121917883 G>A,T Pathogenic, likely-pathogenic Missense variant, coding sequence variant
rs267606843 C>G,T Pathogenic Coding sequence variant, stop gained, missense variant
rs762351324 T>- Likely-pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
40
miRTarBase ID miRNA Experiments Reference
MIRT029715 hsa-miR-26b-5p Microarray 19088304
MIRT044459 hsa-miR-320a CLASH 23622248
MIRT532321 hsa-miR-561-3p PAR-CLIP 22012620
MIRT532320 hsa-miR-889-3p PAR-CLIP 22012620
MIRT532319 hsa-miR-488-3p PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
84
GO ID Ontology Definition Evidence Reference
GO:0001616 Function Growth hormone secretagogue receptor activity IBA
GO:0001616 Function Growth hormone secretagogue receptor activity IDA 8688086
GO:0001616 Function Growth hormone secretagogue receptor activity IEA
GO:0002031 Process G protein-coupled receptor internalization IDA 10644702
GO:0004930 Function G protein-coupled receptor activity IDA 8688086
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601898 4267 ENSG00000121853
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92847
Protein name Growth hormone secretagogue receptor type 1 (GHS-R) (GH-releasing peptide receptor) (GHRP) (Ghrelin receptor)
Protein function Receptor for ghrelin, coupled to G-alpha-11 proteins. Stimulates growth hormone secretion. Also binds other growth hormone releasing peptides (GHRP) (e.g. Met-enkephalin and GHRP-6) as well as non-peptide, low molecular weight secretagogues (e.g
PDB 6KO5 , 7F9Y , 7F9Z , 7NA7 , 7NA8 , 7W2Z , 8JSR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00001 7tm_1 60 323 7 transmembrane receptor (rhodopsin family) Family
Tissue specificity TISSUE SPECIFICITY: Pituitary and hypothalamus.
Sequence
Sequence length 366
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  cAMP signaling pathway
Neuroactive ligand-receptor interaction
Hormone signaling
Growth hormone synthesis, secretion and action
  G alpha (q) signalling events
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Short stature due to growth hormone secretagogue receptor deficiency Likely pathogenic; Pathogenic rs1043529281, rs267606843 RCV001824197
RCV000008072
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
DESBUQUOIS SYNDROME CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIGESTIVE SYSTEM NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GHSR-related disorder Conflicting classifications of pathogenicity; Benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL Disgenet, HPO
Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
ACTH Syndrome, Ectopic Ectopic ACTH secretion syndrome BEFREE 18426818
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 14616888, 29963901, 9851770
★☆☆☆☆
Found in Text Mining only
Adrenocortical carcinoma Adrenocortical carcinoma BEFREE 16020971
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 28598597
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 16020971
★☆☆☆☆
Found in Text Mining only
Androgen-Insensitivity Syndrome Androgen-Insensitivity Syndrome BEFREE 31421834
★☆☆☆☆
Found in Text Mining only
Anorexia Anorexia BEFREE 28298897, 29066414, 29914876, 31415709
★☆☆☆☆
Found in Text Mining only
Anorexia Nervosa Anorexia BEFREE 16362631, 23601422
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 26578081, 30582955
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 26578081, 30582955
★☆☆☆☆
Found in Text Mining only