CRH (corticotropin releasing hormone)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
122560 2355 ENSG00000147571
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors 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.
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
AQQAHSNRKLMEIIGK
Sequence length 196
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal dominant nocturnal frontal lobe epilepsy Likely benign; not provided rs748404250, rs12721510, rs72556399 RCV000192059
RCV000033935
RCV000033934
CRH-related disorder Likely benign; Benign rs12721510, rs144205489 RCV003894839
RCV003907967
Show/Hide Text Mining Associations (78)
Associations from Text MiningDisease 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