GHRH (growth hormone releasing hormone)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2691
Gene name Growth hormone releasing hormone
Gene symbol GHRH
Synonyms (NCBI Gene)
GHRFGRFINN
Chromosome 20
Chromosome location 20q11.23
Summary This gene encodes a member of the glucagon family of proteins. The encoded preproprotein is produced in the hypothalamus and cleaved to generate the mature factor, known as somatoliberin, which acts to stimulate growth hormone release from the pituitary g
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
49
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (49)
GO ID Ontology Definition Evidence Reference
GO:0005102 Function Signaling receptor binding IEA
GO:0005179 Function Hormone activity IEA
GO:0005184 Function Neuropeptide hormone activity IBA
GO:0005184 Function Neuropeptide hormone activity IEA
GO:0005576 Component Extracellular region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
139190 4265 ENSG00000118702
Protein Protein information from UniProt database.
Gene 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.
P01286
Protein name Somatoliberin (Growth hormone-releasing factor) (GRF) (Growth hormone-releasing hormone) (GHRH) (Somatocrinin) (Somatorelin) (Sermorelin)
Protein function GRF is released by the hypothalamus and acts on the adenohypophyse to stimulate the secretion of growth hormone.
PDB 5BQM , 7CZ5 , 7V9M
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00123 Hormone_2 32 → 59 Peptide hormone Family
Sequence 
MPLWVFFFVILTLSNSSHCSPPPPLTLRMRRYADAIFTNSYRKVLGQLSARKLLQDIMSR
QQGESNQERGARARLGRQVDSMWAEQKQMELESILVALLQKHSRNSQG
Sequence length 108
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Neuroactive ligand-receptor interaction
Hormone signaling
Growth hormone synthesis, secretion and action 		  G alpha (s) signalling events
Glucagon-type ligand receptors
ADORA2B mediated anti-inflammatory cytokines production
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Unknown Diseases (1)
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
PULMONARY EDEMA — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (149)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acromegaly Acromegaly BEFREE 12100081, 12220735, 16537684, 23542451, 27518527, 9284826, 9348175
★★★★★
★☆☆☆☆
Found in Text Mining only
Acromegaly Acromegaly Pubtator 17373589, 9284826, 9420436 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
ACTH-Secreting Pituitary Adenoma Pituitary adenoma BEFREE 1350590
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 12364462, 18575759
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 10218950, 10487694, 10773877, 10923914, 19029774, 19342460, 9176381
★★★★★
★☆☆☆☆
Found in Text Mining only
AICARDI-GOUTIERES SYNDROME Aicardi Goutieres Syndrome BEFREE 12186980
★★★★★
★☆☆☆☆
Found in Text Mining only
Alstrom Syndrome Alstrom Syndrome BEFREE 23445176
★★★★★
★☆☆☆☆
Found in Text Mining only
Alstrom Syndrome Alstrom syndrome Pubtator 23445176 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 30372675 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 19086053
★★★★★
★☆☆☆☆
Found in Text Mining only