HCRT (hypocretin neuropeptide precursor)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3060
Gene name Hypocretin neuropeptide precursor
Gene symbol HCRT
Synonyms (NCBI Gene)
NRCLP1OXPPOX
Chromosome 17
Chromosome location 17q21.2
Summary This gene encodes a hypothalamic neuropeptide precursor protein that gives rise to two mature neuropeptides, orexin A and orexin B, by proteolytic processing. Orexin A and orexin B, which bind to orphan G-protein coupled receptors HCRTR1 and HCRTR2, funct
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs104894574 A>C Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
22
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (22)
miRTarBase ID miRNA Experiments Reference
MIRT2008883 hsa-miR-4314 CLIP-seq
MIRT2008884 hsa-miR-4436a CLIP-seq
MIRT2008885 hsa-miR-4488 CLIP-seq
MIRT2008886 hsa-miR-4656 CLIP-seq
MIRT2008887 hsa-miR-4667-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0001659 Process Temperature homeostasis IBA
GO:0001659 Process Temperature homeostasis IEA
GO:0005184 Function Neuropeptide hormone activity IBA
GO:0005184 Function Neuropeptide hormone activity IEA
GO:0005576 Component Extracellular region TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602358 4847 ENSG00000161610
Protein Protein information from UniProt database.
Gene SNPs miRNA 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.
O43612
Protein name Hypocretin neuropeptide precursor (Hypocretin) (Hcrt) (Orexin precursor) (Prepro-orexin) (Preprohypocretin) [Cleaved into: Orexin-A (Hypocretin-1) (Hcrt1); Orexin-B (Hypocretin-2) (Hcrt2)]
Protein function Neuropeptides that play a significant role in the regulation of food intake and sleep-wakefulness, possibly by coordinating the complex behavioral and physiologic responses of these complementary homeostatic functions. A broader role in the home
PDB 1CQ0 , 1R02 , 1UVQ , 1WSO , 7L1U
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02072 Orexin 1 → 130 Prepro-orexin Family
Tissue specificity TISSUE SPECIFICITY: Abundantly expressed in subthalamic nucleus but undetectable in other brain regions tested (hypothalamus was not tested) and in heart, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO:0000269|PubMed:9491897}.
Sequence
Sequence length 131
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Neuroactive ligand-receptor interaction
Hormone signaling 		  Orexin and neuropeptides FF and QRFP bind to their respective receptors
G alpha (q) signalling events
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA 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 Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Narcolepsy 1 Pathogenic rs104894574 RCV000007726
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (12)
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
CANNABIS DEPENDENCE — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEGENERATIVE DISORDER — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HCRT-related disorder Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (159)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenoma Adenoma BEFREE 15797953
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenal Cortical Adenoma Adrenocortical adenoma BEFREE 15797953
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Neoplasms Adrenal neoplasia BEFREE 15797953
★★★★★
★☆☆☆☆
Found in Text Mining only
Agoraphobia Agoraphobia BEFREE 30718541
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 11722581 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer disease, familial, type 3 Alzheimer disease BEFREE 31346513
★★★★★
★☆☆☆☆
Found in Text Mining only
Amnesia, Transient Global Amnesia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 25422493, 30292090
★★★★★
★☆☆☆☆
Found in Text Mining only
Anhedonia Anhedonia BEFREE 31220485
★★★★★
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 29467942
★★★★★
★☆☆☆☆
Found in Text Mining only