Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1392
Gene name Gene Name - the full gene name approved by the HGNC.
Corticotropin releasing hormone
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CRH
Synonyms (NCBI Gene) Gene synonyms aliases
CRF, CRH1
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q13.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 factor Regulation Reference
AR Repression 16446741
ESR1 Repression 12161509
ESR2 Repression 12161509
NR4A2 Unknown 11315917
RARA Activation 19596122
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
122560 2355 ENSG00000147571
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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
Epilepsy epilepsy, frontal lobe epilepsy N/A N/A GenCC
Nocturnal Epilepsy autosomal dominant nocturnal frontal lobe epilepsy N/A N/A GenCC, ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
ABCD syndrome Associate 33244004
Abuse dwarfism syndrome Associate 18250257
Acne Vulgaris Associate 12011471
ACTH Syndrome Ectopic Associate 8254033
Adenoma Associate 31280266
Adrenocortical Adenoma Associate 37062723
Alopecia Associate 12011471
Anxiety Associate 18801728, 24123648
Anxiety Disorders Associate 16884458, 26923505
Arthritis Associate 11315917, 11508426