Gene Gene information from NCBI Gene database.
Entrez ID 1392
Gene name Corticotropin releasing hormone
Gene symbol CRH
Synonyms (NCBI Gene)
CRFCRH1
Chromosome 8
Chromosome location 8q13.1
Summary This gene encodes a member of the corticotropin-releasing factor family. The encoded preproprotein is proteolytically processed to generate the mature neuropeptide hormone. In response to stress, this hormone is secreted by the paraventricular nucleus (PV
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs12721510 G>T Pathogenic Upstream transcript variant
rs72556399 C>G Pathogenic Upstream transcript variant
rs748404250 G>A,C,T Uncertain-significance, pathogenic, likely-benign Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
11
miRTarBase ID miRNA Experiments Reference
MIRT021551 hsa-miR-142-3p Microarray 17612493
MIRT1969592 hsa-miR-3978 CLIP-seq
MIRT1969593 hsa-miR-4307 CLIP-seq
MIRT1969594 hsa-miR-556-3p CLIP-seq
MIRT1969595 hsa-miR-875-3p CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
5
Transcription factor Regulation Reference
AR Repression 16446741
ESR1 Repression 12161509
ESR2 Repression 12161509
NR4A2 Unknown 11315917
RARA Activation 19596122
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
77
GO ID Ontology Definition Evidence Reference
GO:0001963 Process Synaptic transmission, dopaminergic IDA 12895416
GO:0001963 Process Synaptic transmission, dopaminergic IEA
GO:0003085 Process Negative regulation of systemic arterial blood pressure IEA
GO:0005102 Function Signaling receptor binding TAS 7477348
GO:0005179 Function Hormone activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
122560 2355 ENSG00000147571
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P06850
Protein name Corticoliberin (Corticotropin-releasing factor) (CRF) (Corticotropin-releasing hormone)
Protein function Hormone regulating the release of corticotropin from pituitary gland (By similarity). Induces NLRP6 in intestinal epithelial cells, hence may influence gut microbiota profile (By similarity). {ECO:0000250|UniProtKB:P06296, ECO:0000250|UniProtKB:
PDB 1GO9 , 1GOE , 3EHT , 3EHU , 6P9X
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00473 CRF 157 194 Corticotropin-releasing factor family Family
Tissue specificity TISSUE SPECIFICITY: Produced by the hypothalamus and placenta. {ECO:0000269|PubMed:2783917, ECO:0000269|PubMed:3262120}.
Sequence
MRLPLLVSAGVLLVALLPCPPCRALLSRGPVPGARQAPQHPQPLDFFQPPPQSEQPQQPQ
ARPVLLRMGEEYFLRLGNLNKSPAAPLSPASSLLAGGSGSRPSPEQATANFFRVLLQQLL
LPRRSLDSPAALAERGARNALGGHQEAPERERRSEEPPISLDLTFHLLREVLEMARAEQL
AQQAHSNRKLMEII
GK
Sequence length 196
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
Long-term depression
Cushing syndrome
Alcoholism
  Class B/2 (Secretin family receptors)
G alpha (s) signalling events
ADORA2B mediated anti-inflammatory cytokines production
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
31
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)
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
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANHEDONIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOREXIA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDERS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
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
ABCD syndrome Abcd syndrome Pubtator 33244004 Associate
★☆☆☆☆
Found in Text Mining only
Acne Acne BEFREE 19077080
★☆☆☆☆
Found in Text Mining only
Acne Vulgaris Acne BEFREE 19077080
★☆☆☆☆
Found in Text Mining only
ACTH Deficiency, Isolated ACTH Deficiency BEFREE 8882784
★☆☆☆☆
Found in Text Mining only
ACTH Syndrome, Ectopic Ectopic ACTH secretion syndrome BEFREE 11932296
★☆☆☆☆
Found in Text Mining only
ACTH-Secreting Pituitary Adenoma Pituitary adenoma BEFREE 27220856, 28986303, 9100600
★☆☆☆☆
Found in Text Mining only
Acute Confusional Senile Dementia Senile Dementia CTD_human_DG 7477348
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 31100090
★☆☆☆☆
Found in Text Mining only
Addison Disease Addison`s Disease BEFREE 15126546, 20923424, 28780517, 28819949, 29390437, 31133546
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 16721033, 2118538, 27220856, 28986303, 30502716, 31062234, 8636444
★☆☆☆☆
Found in Text Mining only