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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HCRT Gene

protein-coding   GIFtS: 59
GCID: GC17M040337

Hypocretin (Orexin) Neuropeptide Precursor

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Hypocretin (Orexin) Neuropeptide Precursor1 2     orexin2
OX2 3 5     Hcrt3
prepro-orexin1 2     Hypocretin3
PPOX2 3     PPORX3
NRCLP12 5     

External Ids:    HGNC: 48471   Entrez Gene: 30602   Ensembl: ENSG000001616107   OMIM: 6023585   UniProtKB: O436123   

Export aliases for HCRT gene to outside databases

Previous GC identifers: GC17M039901 GC17M042492 GC17M040244 GC17M040709 GC17M037589 GC17M036101


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HCRT Gene:
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, function in the regulation of sleep and arousal. This neuropeptide arrangement may
also play a role in feeding behavior, metabolism, and homeostasis. (provided by RefSeq, Jan 2010)

GeneCards Summary for HCRT Gene: 
HCRT (hypocretin (orexin) neuropeptide precursor) is a protein-coding gene. Diseases associated with HCRT include hypersomnia, and sleep apnea, and among its related super-pathways are Signaling by GPCR and GPCR ligand binding. GO annotations related to this gene include type 1 hypocretin receptor binding and type 2 hypocretin receptor binding.

UniProtKB/Swiss-Prot: OREX_HUMAN, O43612
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 homeostatic regulation of energy metabolism, autonomic function, hormonal
balance and the regulation of body fluids, is also suggested. Orexin-A binds to both OX1R and OX2R with a high
affinity, whereas orexin-B binds only to OX2R with a similar high affinity




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.2  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HCRT gene promoter:
         NRSF form 1   Tal-1beta   NRSF form 2   CREB   HOXA5   deltaCREB   STAT3   ARP-1   FOXJ2   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHCRT promoter sequence
   Search SABiosciences Chromatin IP Primers for HCRT

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HCRT


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q21   Ensembl cytogenetic band:  17q21.2   HGNC cytogenetic band: 17q21

HCRT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HCRT gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M040337:  view genomic region     (about GC identifiers)

Start:
40,336,078 bp from pter      End:
40,337,470 bp from pter
Size:
1,393 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: OREX_HUMAN, O43612 (See protein sequence)
Recommended Name: Orexin precursor  
Size: 131 amino acids; 13363 Da
Subcellular location: Rough endoplasmic reticulum (By similarity). Cytoplasmic vesicle (By similarity). Cell
junction, synapse (By similarity). Note=Associated with perikaryal rough endoplasmic reticulum as well as
cytoplasmic large granular vesicles at synapses (By similarity)
4 PDB 3D structures from and Proteopedia for HCRT:
1CQ0 (3D)        1R02 (3D)        1UVQ (3D)        1WSO (3D)    

Explore the universe of human proteins at neXtProt for HCRT: NX_O43612

Explore proteomics data for HCRT at MOPED 

Post-translational modifications:

  • UniProtKB: Specific enzymatic cleavages at paired basic residues yield the different active peptides
  • View neXtProt modification sites for NX_O43612

  • HCRT Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HCRT Protein Expression
    REFSEQ proteins: NP_001515.1  
    ENSEMBL proteins: 
     ENSP00000293330  
    Reactome Protein details: O43612
    Human Recombinant Protein Products for HCRT: 
    EMD Millipore Purified and/or Recombinant HCRT Protein
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
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    OriGene Protein Over-expression Lysate for HCRT
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for HCRT
    GenScript Custom Purified and Recombinant Proteins Services for HCRT
    Novus Biologicals HCRT Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005737cytoplasm ----
    GO:0005791rough endoplasmic reticulum IEA--
    GO:0008021synaptic vesicle TAS9419374
    GO:0030054cell junction IEA--

    HCRT for ontologies           About GeneDecksing



    HCRT Antibody Products: 
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    Novus Biologicals HCRT Antibodies
    Abcam antibodies for HCRT
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibodies for HCRT
    LSBio Antibodies in human, mouse, rat for HCRT 

    Assay Products for HCRT: 
    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ENDOLIG: Endogenous ligands

    1 InterPro protein domain:
     IPR001704 Orexin

    Graphical View of Domain Structure for InterPro Entry O43612

    ProtoNet protein and cluster: O43612

    1 Blocks protein domain: IPB001704 Prepro-orexin signature

    UniProtKB/Swiss-Prot: OREX_HUMAN, O43612
    Similarity: Belongs to the orexin family


    HCRT for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: OREX_HUMAN, O43612
    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 homeostatic regulation of energy metabolism, autonomic function, hormonal
    balance and the regulation of body fluids, is also suggested. Orexin-A binds to both OX1R and OX2R with a high
    affinity, whereas orexin-B binds only to OX2R with a similar high affinity

         Genatlas biochemistry entry for HCRT:
    hypocretin neuropeptide precursor of isoforms A and B,expressed in lateral hypothalamus and adjacent
    areas,potential mediator in the central feedback mechanism,that regulates feeding behavior,homolog to
    secretin,susceptibility gene for narcolepsy

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0031771type 1 hypocretin receptor binding IEA--
    GO:0031772type 2 hypocretin receptor binding IEA--
         
    HCRT for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for HCRT:
     Increased homologous recombina 

         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Hcrt):
     behavior/neurological  cardiovascular system  growth/size  homeostasis/metabolism  muscle 
     nervous system  respiratory system 

    HCRT for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for HCRT 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HCRT

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HCRT 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HCRT 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HCRT
    1 QIAGEN miScript miRNA Assays for microRNA that regulate HCRT:
    hsa-miR-137
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for HCRT
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: HCRT (NM_001524)
    Browse Sino Biological Human cDNA Clones
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                         Customized lentivirus expression plasmids for stable overexpression of HCRT 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HCRT


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for HCRT About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.55
    GPCR downstream signaling0.90
    2Class A/1 (Rhodopsin-like receptors)
    Class A/1 (Rhodopsin-like receptors)0.71
    Peptide ligand-binding receptors0.60
    GPCR ligand binding0.71
    3G alpha (q) signalling events
    Gastrin-CREB signalling pathway via PKC and MAPK0.90
    G alpha (q) signalling events0.90
    4Neuropeptides signaling through G-protein alpha-i & G-protein alpha-q
    Neuropeptides signaling through G-protein alpha-i & G-protein alpha-q0.46
    5Orexin and neuropeptides FF and QRFP bind to their respective receptors
    Orexin and neuropeptides FF and QRFP bind to their respective receptors

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for HCRT
        Neuropeptides signaling through G-protein alpha-i & G-protein alpha-q


    5/9        Reactome Pathways for HCRT (see all 9)
        GPCR downstream signaling
    Peptide ligand-binding receptors
    Gastrin-CREB signalling pathway via PKC and MAPK
    Orexin and neuropeptides FF and QRFP bind to their respective receptors
    Signaling by GPCR



    HCRT for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HCRT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/128 Interacting proteins for HCRT (O436123 ENSP000002933304) via UniProtKB, MINT, STRING, and/or I2D (see all 128)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206305P019093I2D: score=1 
    ENSG00000232062P019093I2D: score=1 
    HLA-DQA1P019093I2D: score=1 
    HCRTR1O436133, ENSP000003628104I2D: score=2 STRING: ENSP00000362810
    HCRTR2O436143, ENSP000003598994I2D: score=2 STRING: ENSP00000359899
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007200phospholipase C-activating G-protein coupled receptor signaling pathway IEA--
    GO:0007204elevation of cytosolic calcium ion concentration IEA--
    GO:0007205protein kinase C-activating G-protein coupled receptor signaling pathway IEA--
    GO:0007218neuropeptide signaling pathway IEA--
    GO:0007268synaptic transmission TAS9419374

    HCRT for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    HCRT for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HCRT (OREX)

    1 DrugBank Compound for HCRT    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Pyroglutamic Acid-- 98-79-3target--10592235

    10/61 Novoseek inferred chemical compound relationships for HCRT gene (see all 61)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    modafinil 75.4 15 15652995 (3), 15532213 (1), 19630720 (1), 17712350 (1) (see all 7)
    gamma-hydroxybutyrate 73.3 1 15989524 (1)
    enterostatin 67.5 2 11732637 (1), 10857385 (1)
    oxyntomodulin 53.8 2 16340035 (1), 16949016 (1)
    cocaine 52.9 37 15330675 (2), 16326123 (2), 10929926 (1), 11872319 (1) (see all 28)
    octadecaneuropeptide 48.6 4 15146610 (1), 15107726 (1)
    amphetamine 48.5 18 12151553 (3), 10657511 (1), 15777192 (1), 15146610 (1) (see all 13)
    histamine 46.1 47 19238805 (4), 12388591 (3), 18295497 (2), 11682143 (2) (see all 21)
    npff 45 6 12609745 (4), 12714592 (1)
    dopamine 44 40 15532213 (2), 19891960 (2), 12403989 (1), 16476667 (1) (see all 27)

    Search CenterWatch for drugs/clinical trials and news about HCRT / OREX

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HCRT gene: 
    NM_001524.1  

    Unigene Cluster for HCRT:

    Hypocretin (orexin) neuropeptide precursor
    Hs.158348  [show with all ESTs]
    Unigene Representative Sequence: AW163686
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000293330(uc002hzc.1)

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate HCRT:
    hsa-miR-137
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Primer
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      Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HCRT

    Additional mRNA sequence: AF041240.1 

    1 DOTS entry:

    DT.40127958 

    6 AceView cDNA sequences:

    AF041240 NM_001524 AW163686 AW163085 BG194545 BX284083 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HCRT expression in normal human tissues (normalized intensities)      HCRT embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACCTTCCTT
    HCRT Expression
    About this image


    HCRT expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/8 selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Thalamus
             hypothalamus   
     
     Mesoderm (Gastrulation Derivatives)
             skeleton/axial skeleton   
     
     Neural Tube (Nervous System)
             Diencephalon
     
     Somite (Muscoskeletal System)
             skeleton/axial skeleton   
     
     Paraxial Mesoderm (Gastrulation Derivatives)
             skeleton/axial skeleton   

    See HCRT Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HCRT

    SOURCE GeneReport for Unigene cluster: Hs.158348

    UniProtKB/Swiss-Prot: OREX_HUMAN, O43612
    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including HCRT: 
              Neurotrophins & Receptors in human mouse rat
              Obesity in human mouse rat

    Primer
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    Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HCRT
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HCRT

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for HCRT gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hcrt1 , 5 hypocretin1, 5 80.77(n)1
    82.31(a)1
      11 (63.60 cM)5
    151711  NM_010410.21  NP_034540.11 
     1007610695 
    chicken
    (Gallus gallus)
    Aves HCRT1 hypocretin (orexin) neuropeptide precursor 64.74(n)
    57.85(a)
      374005  NM_204185.1  NP_989516.1 
    lizard
    (Anolis carolinensis)
    Reptilia HCRT6
    Uncharacterized protein
    37(a)
    1 ↔ 1
    6(72761703-72767864)
    zebrafish
    (Danio rerio)
    Actinopterygii hcrt6
    hypocretin (orexin) neuropeptide precursor
    33(a)
    1 ↔ 1
    3(17181219-17185315)


    ENSEMBL Gene Tree for HCRT (if available)
    TreeFam Gene Tree for HCRT (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/76 SNPs in HCRT are shown (see all 76)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0116334
    Narcolepsy 1 (NRCLP1)4--see VAR_0116332 L R mis40--------
    rs1048945741,2
    Cpathogenic141125593(-) GCTACG/TGCTGC 2 R L mis10--------
    rs346401311,2
    F--40338843(+) TCTTTC/TTTTTT 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs288791961,2
    C,F--40338928(+) CGCCTT/CCCGGG 1 -- us2k11Minor allele frequency- C:0.00WA 2
    rs288635521,2
    C,F--40338931(+) CTCCCT/GGGTTC 1 -- us2k11Minor allele frequency- G:0.00WA 2
    rs129531101,2
    C,F--40338997(+) acgccC/Tagcta 1 -- us2k12Minor allele frequency- T:0.50NA 4
    rs286960121,2
    C,F--40339099(+) CCAAAA/GTGCTG 1 -- us2k11Minor allele frequency- G:0.00WA 2
    rs37603911,2
    C,F--41124652(+) AATTAT/CGGCTC 1 -- ds50011Minor allele frequency- C:0.03EA 120
    rs587557791,2
    C,F--41124706(+) CCCCGC/TTAATT 1 -- ds50011Minor allele frequency- T:0.03WA 118
    rs1458718321,2
    --41124922(+) GCATCC/GTAGGA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for HCRT (40336078 - 40337470 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for HCRT:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv908244CNV Loss21882294
    dgv3169n71CNV Loss21882294


    Human Gene Mutation Database (HGMD): HCRT
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing HCRT
    DNA2.0 Custom Variant and Variant Library Synthesis for HCRT

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602358   
    OMIM disorders: 161400  
    UniProtKB/Swiss-Prot: OREX_HUMAN, O43612
  • Narcolepsy 1 (NRCLP1) [MIM:161400]: Neurological disabling sleep disorder, characterized by excessive
    daytime sleepiness, sleep fragmentation, symptoms of abnormal rapid-eye-movement (REM) sleep, cataplexy,
    hypnagogic hallucinations, and sleep paralysis. Cataplexy is a sudden loss of muscle tone triggered by emotions,
    which is the most valuable clinical feature used to diagnose narcolepsy. Human narcolepsy is primarily a
    sporadically occurring disorder but familial clustering has been observed. Note=The disease is caused by
    mutations affecting the gene represented in this entry. Human narcolepsy is associated with a deficient orexin
    system. Orexins are absent and/or greatly diminished in the brain and cerebrospinal fluid (CSF) of most
    narcoleptic patients

  • 20/78 diseases for HCRT (see all 78):    About MalaCards
    hypersomnia    sleep apnea    sleep disorder    acute disseminated encephalomyelitis
    recurrent hypersomnia    kleine-levin syndrome    trigeminal autonomic cephalalgia    narcolepsy 1
    narcolepsy    restless legs syndrome    corticobasal degeneration    craniopharyngioma
    complex regional pain syndrome    alobar holoprosencephaly    progressive supranuclear palsy    guillain-barre syndrome
    phenylketonuria    nicotine addiction    neuromyelitis optica    sensenbrenner syndrome

    3 diseases from the University of Copenhagen DISEASES database for HCRT:
    Sleep disorder     Neurodegenerative disease     Brain disease

    HCRT for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/61 Novoseek inferred disease relationships for HCRT gene (see all 61)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    narcolepsy 97.7 645 20129934 (8), 19725250 (6), 19158946 (6), 19555382 (6) (see all 99)
    cataplexy 96.9 160 19725250 (7), 12405608 (6), 20129934 (6), 16006155 (3) (see all 71)
    sleep paralysis 90.2 3 17702265 (1), 15729517 (1)
    idiopathic hypersomnia 80.3 18 19238805 (3), 19928388 (2), 11869432 (2), 14638887 (1) (see all 6)
    hypersomnia recurrent 75.5 6 18226957 (2)
    hypersomnia posttraumatic 71.8 1 14638887 (1)
    obesity 55.4 28 15862893 (4), 18595438 (2), 16188908 (2), 16054072 (2) (see all 14)
    hypothalamic tumors 48 2 15645360 (1), 16986734 (1)
    apnea sleep 47.5 2 15627867 (1), 18812827 (1)
    neurological disorders 47.3 16 18819824 (3), 17245312 (1), 11756606 (1), 16006155 (1) (see all 12)

    Genetic Association Database (GAD): HCRT
    Human Genome Epidemiology (HuGE) Navigator: HCRT (11 documents)

    Export disorders for HCRT gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for HCRT gene, integrated from 9 sources (see all 602):
    (articles sorted by number of sources associating them with HCRT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Orexins and orexin receptors: a family of hypothalamic neuropeptides and G protein-coupled receptors that regulate feeding behavior. (PubMed id 9491897)1, 2, 3 Sakurai T....Yanagisawa M. (1998)
    2. Association of an orexin 1 receptor 408Val variant with polydipsia-hyponatremia in schizophrenic subjects. (PubMed id 15978554)1, 4, 9 Meerabux J....Yoshikawa T. (2005)
    3. A prepro-orexin gene polymorphism is associated with narcolepsy. (PubMed id 11148249)1, 4, 9 Gencik M....Epplen J.T. (2001)
    4. Orexin-A is composed of a highly conserved C-terminal and a specific, hydrophilic N-terminal region, revealing the structural basis of specific recognition by the orexin-1 receptor. (PubMed id 16429482)1, 2, 9 Takai T.... Ikegami T. (2006)
    5. Hypocretin/orexin, sleep and narcolepsy. (PubMed id 11340621)1, 2, 9 Hungs M. and Mignot E. (2001)
    6. Polymorphisms in the vicinity of the hypocretin/orexin are not associated with human narcolepsy. (PubMed id 11723284)1, 4, 9 Hungs M....Mignot E. (2001)
    7. To eat or to sleep? Orexin in the regulation of feeding and wakefulness. (PubMed id 11283317)1, 2, 9 Willie J.T.... Yanagisawa M. (2001)
    8. A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains. (PubMed id 10973318)1, 2, 9 Peyron C.... Mignot E. (2000)
    9. Solution structure of a new hypothalamic neuropeptide, human hypocretin-2/orexin-B. (PubMed id 10583376)1, 2, 9 Lee J.-H.... Lee W. (1999)
    10. Association study of 182 candidate genes in anorexia nervosa. (PubMed id 20468064)1, 4 Pinheiro A.P....Woodside D.B. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3060 HGNC: 4847 AceView: HCRT Ensembl:ENSG00000161610 euGenes: HUgn3060
    ECgene: HCRT H-InvDB: HCRT

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HCRT Pharmacogenomics, SNPs, Pathways
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/sptlt015.shtml

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HCRT gene:
    Search GeneIP for patents involving HCRT

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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