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

GHRL Gene

protein-coding   GIFtS: 61
GCID: GC03M010302

ghrelin/obestatin prepropeptide

(Previous names: ghrelin, growth hormone secretagogue receptor ligand )
 Explore 173 diseases affiliated with
GHRL via our new
 Human Malady Compendium 
Biological research products
for GHRL
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Ghrelin/Obestatin Prepropeptide1 2     Ghrelin1
MTLRP1 2 3     Obestatin1
Ghrelin, Growth Hormone Secretagogue Receptor Ligand1 2     Appetite-Regulating Hormone2
Growth Hormone Secretagogue2 3     Ghrelin/Obestatin Preprohormone2
Growth Hormone-Releasing Peptide2 3     Protein M463
Motilin-Related Peptide2 3     

External Ids:    HGNC: 181291   Entrez Gene: 517382   Ensembl: ENSG000001570177   OMIM: 6053535   UniProtKB: Q9UBU33   
ORGUL members:         
NONCODE:n332477 n406615 n406614 n332476 n406612 see all 7    

Export aliases for GHRL gene to outside databases

Previous GC identifer: GC03M010256


(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 GHRL:
This gene encodes ghrelin-obestatin preproprotein, which generates ghrelin and obestatin. Ghrelin is an endogenous
ligand for the growth hormone secretagogue receptor and is involved in regulating growth hormone release. Obestatin
was initially reported to be an endogenous ligand for the orphan G protein-coupled receptor GPR39 and was involved in
satiety and decreased food intake; however, these findings are controversial. Recent reports show that obestatin is
involved in inhibiting thirst and anxiety, improving memory, regulating sleep, affecting cell proliferation, and
increasing the secretion of pancreatic juice enzymes. Alternative promoters and alternative splicing result in
multiple transcript variants, some of which encode different protein isoforms and some of which do not encode a
protein but may regulate the ghrelin-obestatin preproprotein expression. In addition, antisense transcripts for this
gene have been identified and may also function in regulation of the ghrelin-obestatin preproprotein expression.
(provided by RefSeq, Oct 2008)

UniProtKB/Swiss-Prot: GHRL_HUMAN, Q9UBU3
Function: Ghrelin is the ligand for growth hormone secretagogue receptor type 1 (GHSR). Induces the release of growth
hormone from the pituitary. Has an appetite-stimulating effect, induces adiposity and stimulates gastric acid
secretion. Involved in growth regulation
Function: Obestatin may be the ligand for GPR39. May have an appetite-reducing effect resulting in decreased food
intake. May reduce gastric emptying activity and jejunal motility (By similarity)

Gene Wiki entry for GHRL (Ghrelin)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_022517.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GHRL gene promoter:
         CREB   AP-1   ATF-2   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGHRL promoter sequence
   Search SABiosciences Chromatin IP Primers for GHRL

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


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

Entrez Gene cytogenetic band: 3p26-p25   Ensembl cytogenetic band:  3p25.3   HGNC cytogenetic band: 3p26-p25

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

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M010302:  view genomic region     (about GC identifiers)

Start:
10,327,359 bp from pter      End:
10,334,631 bp from pter
Size:
7,273 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

  • n406612
  • n406611
  • n406614
  • n406615
  • n406613
  • n332476
  • n332477
10327433 10331032 10334631 chr3

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: GHRL_HUMAN, Q9UBU3 (See protein sequence)
Recommended Name: Appetite-regulating hormone precursor  
Size: 117 amino acids; 12911 Da
Subcellular location: Secreted
Mass spectrometry: Mass=3398.9; Mass_error=0.3; Method=Electrospray; Range=24-51; Note=Ghrelin-28-C10, O-decanoylated
form; Source=PubMed:12414809;
Mass spectrometry: Mass=3397.2; Mass_error=0.5; Method=Electrospray; Range=24-51; Note=Ghrelin-28-C10:1, O-decenoylated
form; Source=PubMed:12414809;
Mass spectrometry: Mass=3371.3; Mass_error=0.1; Method=Electrospray; Range=24-51; Note=Ghrelin-28-C8, O-octanoylated
form; Source=PubMed:12414809;
Mass spectrometry: Mass=3243.6; Mass_error=0.4; Method=Electrospray; Range=24-50; Note=Ghrelin-27-C10, O-decanoylated
form; Source=PubMed:12414809;
Mass spectrometry: Mass=3214.6; Mass_error=0.6; Method=Electrospray; Range=24-50; Note=Ghrelin-27-C8, O-octanoylated
form; Source=PubMed:12414809;
1 PDB 3D structure from and Proteopedia for GHRL:
1P7X (3D)    
Secondary accessions: A8CF34 A8CF38 A8CF42 A8DN29 A8DN30 Q8TAT9 Q9H3R3
Alternative splicing: 5 isoforms:  Q9UBU3-1   Q9UBU3-2   Q9UBU3-3   Q9UBU3-4   Q9UBU3-5   

Explore the universe of human proteins at neXtProt for GHRL: NX_Q9UBU3

Post-translational modifications:

  • O-octanoylation or O-decanoylation is essential for ghrelin activity. The O-decanoylated forms Ghrelin-27-C10 and
  • Ghrelin-28-C10 differ in the length of the carbon backbone of the carboxylic acid bound to Ser-26. A small fraction of
    ghrelin, ghrelin-28-C10:1, may be modified with a singly unsaturated carboxylic acid1
  • Amidation of Leu-98 is essential for obestatin activity (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UBU3

  • GHRL Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (5 alternative transcripts): 
    NP_001128413.1  NP_001128416.1  NP_001128417.1  NP_001128418.1  NP_057446.1  

    ENSEMBL proteins: 
     ENSP00000335074   ENSP00000399922   ENSP00000405464   ENSP00000388145   ENSP00000416768  
     ENSP00000287656   ENSP00000391406   ENSP00000403725   ENSP00000394923   ENSP00000414819  
     ENSP00000405031   ENSP00000389192   ENSP00000415521  
    Reactome Protein details: Q9UBU3
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    Uscn Proteins for GHRL

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IDA15531532
    GO:0005737cytoplasm ----
    GO:0005788endoplasmic reticulum lumen TAS--
    GO:0030141secretory granule TAS--


    GHRL for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for GHRL


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    GHRL for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR006738 Motilin_ghrelin
     IPR006737 Motilin_assoc
     IPR005441 Preproghrelin

    Graphical View of Domain Structure for InterPro Entry Q9UBU3

    ProtoNet protein and cluster: Q9UBU3

    3 Blocks protein families:
    IPB005441 Preproghrelin peptide signature
    IPB006738 Motilin/ghrelin
    IPB011070 Globular protein


    UniProtKB/Swiss-Prot: GHRL_HUMAN, Q9UBU3
    Similarity: Belongs to the motilin family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: GHRL_HUMAN, Q9UBU3
    Function: Ghrelin is the ligand for growth hormone secretagogue receptor type 1 (GHSR). Induces the release of growth
    hormone from the pituitary. Has an appetite-stimulating effect, induces adiposity and stimulates gastric acid
    secretion. Involved in growth regulation
    Function: Obestatin may be the ligand for GPR39. May have an appetite-reducing effect resulting in decreased food
    intake. May reduce gastric emptying activity and jejunal motility (By similarity)

    miRNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GHRL

    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001664G-protein coupled receptor binding ISS10604470
    GO:0005179hormone activity ----
    GO:0016608growth hormone-releasing hormone activity TAS16511605
    GO:0030296protein tyrosine kinase activator activity IMP15350694
    GO:0031768ghrelin receptor binding TAS16511605


    GHRL for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for GHRL: Ghrltm1Mko Ghrltm1Lex
         7 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Ghrl):
     adipose tissue  behavior/neurological  digestive/alimentary  endocrine/exocrine gland  homeostasis/metabolism 
     no phenotypic analysis  normal 

    GHRL for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Synthesis, Secretion, and Inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)
    Synthesis, Secretion, and Deacylation of Ghrelin0.46
    Deacylation of Acyl Ghrelin0.00
    Synthesis of Preproghrelin0.00
    Secretion of Acyl Ghrelin and C-Ghrelin0.00
    2Class A/1 (Rhodopsin-like receptors)
    Class A/1 (Rhodopsin-like receptors)1.00
    Peptide ligand-binding receptors0.61
    GPCR ligand binding0.75
    3Signaling by GPCR
    Signaling by GPCR1.00
    Signal Transduction0.56
    GPCR downstream signaling0.89
    4G alpha (q) signalling events
    G alpha (q) signalling events1.00
    Gastrin-CREB signalling pathway via PKC and MAPK0.90
    5Insulin Processing
    Peptide hormone metabolism0.39

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/14        Reactome Pathways for GHRL (see all 14)
        GPCR downstream signaling
    Peptide ligand-binding receptors
    Synthesis of Preproghrelin
    Gastrin-CREB signalling pathway via PKC and MAPK
    Signaling by GPCR



    GHRL for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GHRL

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/7 Interacting proteins for GHRL (Q9UBU33 ENSP000003350744) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACE2Q9BYF13, ENSP000002525194I2D: score=1 STRING: ENSP00000252519
    AGRPO002533, ENSP000002909534I2D: score=1 STRING: ENSP00000290953
    GHRHRQ026433, ENSP000003201804I2D: score=1 STRING: ENSP00000320180
    NPYP013033, ENSP000002421524I2D: score=1 STRING: ENSP00000242152
    GHSRQ928473, ENSP000002412564I2D: score=1 STRING: ENSP00000241256
    About this table

    Gene Ontology (GO): 5/39 biological process terms (GO ID links to tree view) (see all 39):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000187activation of MAPK activity IMP15350694
    GO:0001696gastric acid secretion IEA--
    GO:0001937negative regulation of endothelial cell proliferation IDA15572208
    GO:0006006glucose metabolic process NAS17392603
    GO:0007186G-protein coupled receptor signaling pathway TAS16511605


    GHRL for ontologies           About GeneDecksing



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

    GHRL for compounds           About GeneDecksing

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

    Browse Tocris compounds for GHRL
    10/122 Novoseek chemical compound relationships for GHRL gene (see all 122)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hexarelin 88.7 68 11238504 (12), 12379504 (4), 11227737 (3), 11297611 (2) (see all 34)
    ghrp 86.8 32 14610296 (3), 19931584 (2), 17537842 (2), 17686882 (2) (see all 21)
    oxyntomodulin 79.6 26 19359390 (3), 15358278 (1), 18054740 (1), 17542673 (1) (see all 21)
    glucose 75 834 17061019 (9), 15473884 (8), 15055473 (7), 12970297 (7) (see all 99)
    prepromotilin 73.2 1 18342799 (1)
    ghrp-6 73 5 10750044 (1), 17405826 (1), 8378260 (1)
    ipamorelin 71 5 10496658 (1), 19289567 (1), 16648303 (1), 15556068 (1) (see all 5)
    pegvisomant 64.4 2 11834429 (1)
    acth 60.6 131 17280594 (7), 15860925 (5), 17566099 (5), 16832586 (5) (see all 51)
    cinacalcet 53.7 1 18045826 (1)

    Search CenterWatch for drugs/clinical trials and news about GHRL 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GHRL gene (5 alternative transcripts): 
    NM_001134941.1  NM_001134944.1  NM_001134945.1  NM_001134946.1  NM_016362.3  

    Unigene Clusters for GHRL:

    Ghrelin/obestatin prepropeptide
    Hs.590080  [show with all ESTs], Hs.672979  [show with all ESTs]
    Unigene Representative Sequences: NR_024132, NR_004431
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000335542(uc003bvk.3 uc010hdc.2 uc010hdd.2 uc010hde.2 uc010hdf.2 uc010hdi.2 uc010hdh.2 uc010hdj.2 uc010hdk.2)
    ENST00000481287(uc003bvj.1) ENST00000491589 ENST00000430179 ENST00000422159
    ENST00000449238 ENST00000437422 ENST00000287656 ENST00000457360 ENST00000439975
    ENST00000446937 ENST00000429122 ENST00000475759(uc010hdb.1) ENST00000476283(uc010hda.1)
    ENST00000425479 ENST00000450603 ENST00000449554

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    Additional cDNA sequence: 

    EF549558.1 EF549564.1 EF549568.1 EF549570.1 EU072081.1 EU072082.1 EU789528.1 EU789529.1 
    EU789530.1 EU789531.1 EU789532.1 EU789533.1 EU789534.1 EU789535.1 EU789536.1 EU789537.1 
    EU789538.1 EU789539.1 EU789540.1 EU789541.1 EU789542.1 EU789543.1 EU789544.1 EU789545.1 
    EU789546.1 EU789547.1 EU789549.1 EU789552.1 EU789555.1 NR_004431.2 NR_024144.1 NR_024145.1 
    NR_024146.1 

    8 DOTS entries:

    DT.92051456  DT.429526  DT.209390  DT.95176326  DT.40256663  DT.100702383  DT.97803965  DT.40281435 

    24/26 AceView cDNA sequences (see all 26):

    BM982194 BX093784 AB029434 CA449820 BE467043 BE327561 AY184207 AB035700 
    NM_016362 AI914471 BQ005395 BX118529 AA923146 AI368486 AI057396 AW026274 
    AI914338 AY359053 BC025791 BM854032 BI907288 AI338429 AI702963 BF929001 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for GHRL    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b
    SP1:                                    
    SP2:                                    
    SP3:                    -               


    ECgene alternative splicing isoforms for GHRL

    (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

    GHRL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCAGGCTCCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    GHRL expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    PancreasIslets of LangerhansEpsilon CellsPancreas
    PancreasDorsal Pancreatic BudImmature Beta Progenitor CellsPancreas
    PancreasVentral Pancreatic BudImmature Beta Progenitor CellsPancreas
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 4 LifeMap Cells 
    NameCategory
    Pancreatic endoderm/endocrine precursor-like cells (A scalable, suspensi...)
    beta-like cells (Generation of beta c...)
    Endocrine progenitors (Generation of pancre...)
    Posterior foregut (Generation of pancre...)

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

    SOURCE GeneReport for Unigene clusters: Hs.590080 Hs.672979

    UniProtKB/Swiss-Prot: GHRL_HUMAN, Q9UBU3
    Tissue specificity: Highest level in stomach. All forms are found in serum as well. Other tissues compensate for the
    loss of ghrelin synthesis in the stomach following gastrectomy

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    (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 GHRL gene from 2/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ghrl1 , 5 ghrelin1, 5 85.47(n)1
    83.76(a)1
      6 (52.84 cM)5
    589911  NM_021488.41  NP_067463.21 
     1137161195 
    chicken
    (Gallus gallus)
    Aves GHRL6
    ghrelin preproprotein
    38(a)
    1 ↔ 1
    12(20094804-20097505)


    ENSEMBL Gene Tree for GHRL (if available)
    TreeFam Gene Tree for GHRL (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, UniProtKB, 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

    10/182 NCBI SNPs in GHRL are shown (see all 182    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs6962171,2
    C,F,A,H,pathogenic10331457(+) TTCCAG/TTTCAT 20 M L nc-transcript-variantint1 mis132Minor allele frequency- T:0.09EA NA NS EU 10399
    rs46846771,2
    C,F,H,other10328453(+) GGTACT/AGAACC 21 /Q /L nc-transcript-variantint1 mis1 ese314Minor allele frequency- A:0.04NS EA NA EU 6855
    rs349113411,2
    C,F,other10331519(+) GAGCTC/TGGGGC 20 Q R nc-transcript-variantint1 mis14Minor allele frequency- T:0.01NA EU 5923
    rs2012958831,2
    --10327517(+) ATGAGC/TGCTTC 17 -- nc-transcript-variantut31 int10--------
    rs1807902691,2
    C,--10327618(+) GCACCG/ATCCTG 17 -- int11Minor allele frequency- A:0.00EU 1323
    rs758291781,2
    --10327699(+) GCCTTG/TGAGTC 17 -- int10--------
    rs1148378131,2
    F,--10327711(+) GAGGGC/TGGCAC 17 -- int11Minor allele frequency- T:0.03WA 118
    rs1167551621,2
    --10327767(+) GAGTCT/CTGGTT 17 -- int11Minor allele frequency- C:0.01WA 118
    rs1851938411,2
    --10327868(+) TGCAGA/GTGTTT 17 -- int10--------
    rs1388772751,2
    --10327895(+) TTGGGC/TGGTTT 17 -- int10--------

    HapMap Linkage Disequilibrium report for GHRL (10327359 - 10334631 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for GHRL: --
    Human Gene Mutation Database (HGMD): GHRL

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    GHRL for disorders           About GeneDecksing

    OMIM gene information: 605353   
    OMIM disorders: 601665  
    20/173 diseases for GHRL (see all 173):    About MalaCards
    acth-secreting pituitary adenoma    growth hormone secreting pituitary adenoma    protein-energy malnutrition    prader-willi syndrome
    obsessive-compulsive disorder    growth hormone deficiency    multiple endocrine neoplasia    bulimia nervosa
    glucose intolerance    eating disorder    pancreatitis    congenital diaphragmatic hernia
    pituitary adenoma    polycystic ovary syndrome    short stature    anorexia nervosa
    precocious puberty    gastroparesis    nonalcoholic steatohepatitis    non-hodgkin lymphoma

    12 diseases from the University of Copenhagen DISEASES database for GHRL:
    Prader-Willi syndrome     Gastroparesis     Diabetes mellitus     Morbid obesity
    Eating disorder     Dyspepsia     Ileus     Polycystic ovary syndrome
    Vascular disease     Hyperinsulinism     Gastritis     Hyperglycemia

    10/98 Novoseek disease relationships for GHRL gene (see all 98)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    obesity 80.5 389 17113660 (6), 15769982 (5), 19883981 (5), 17299069 (5) (see all 99)
    anorexia nervosa 77.8 113 15104562 (5), 18380540 (4), 15998770 (2), 17395395 (2) (see all 61)
    prader-willi syndrome 72.7 26 16887433 (2), 18603572 (2), 17047025 (2), 12466337 (1) (see all 21)
    insulin sensitivity 71.9 90 15728212 (5), 16381992 (4), 15472202 (3), 15240647 (3) (see all 52)
    insulin resistance 71.3 183 18350633 (5), 15994748 (4), 15070922 (4), 15538935 (4) (see all 96)
    eating disorders 62.1 34 17616759 (4), 15682922 (3), 16131812 (2), 11720888 (2) (see all 22)
    obesity morbid 59.2 8 17443025 (1), 19628651 (1), 15057669 (1), 16687021 (1) (see all 8)
    polycystic ovary syndrome 55.2 33 17276431 (2), 18756827 (2), 18075283 (2), 18973889 (2) (see all 22)
    hyperinsulinemia 54.4 30 15070922 (3), 15538935 (3), 15855322 (2), 17347858 (2) (see all 17)
    gastroparesis 52.9 25 16868831 (6), 16225494 (3), 19082715 (2), 18946177 (2) (see all 13)

    Genetic Association Database (GAD): GHRL
    Human Genome Epidemiology (HuGE) Navigator: GHRL (79 documents)

    Export disorders for GHRL 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 GHRL gene, integrated from 9 sources (see all 1899):
    (articles sorted by number of sources associating them with GHRL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of a novel gastric peptide hormone: the motilin-related peptide. (PubMed id 10930375)1, 2, 3 Tomasetto C.... Rio M.-C. (2000)
    2. Ghrelin is a growth-hormone-releasing acylated peptide from stomach. (PubMed id 10604470)1, 2, 3 Kojima M.... Kangawa K. (1999)
    3. Structural divergence of human ghrelin. Identification of multiple ghrelin-derived molecules produced by post-translational processing. (PubMed id 12414809)1, 2, 9 Hosoda H.... Kangawa K. (2003)
    4. Polymorphisms in ghrelin and neuropeptide Y genes are associated with non-Hodgkin lymphoma. (PubMed id 15894681)1, 4, 9 Skibola D.R....Holly E.A. (2005)
    5. Variants in the ghrelin gene are associated with metabolic syndrome in the Old Order Amish. (PubMed id 16204371)1, 4, 9 Steinle N.I....Shuldiner A.R. (2005)
    6. Molecular screening of the ghrelin gene in Italian obese children: the Leu72Met variant is associated with an earlier onset of obesity. (PubMed id 14724664)1, 4, 9 Miraglia del Giudice E....Perrone L. (2004)
    7. Mutations in the preproghrelin/ghrelin gene associated with obesity in humans. (PubMed id 11502844)1, 4, 9 Ukkola O....Bouchard C. (2001)
    8. Ghrelin gene polymorphisms and ghrelin, insulin, IGF-I, leptin and anthropometric data in children and adolescents. (PubMed id 15248833)1, 4, 9 Vivenza D....Bona G. (2004)
    9. Ghrelin Arg51Gln mutation is a risk factor for Type 2 diabetes and hypertension in a random sample of middle-aged subjects. (PubMed id 12739020)1, 4, 9 Poykko S....Kesaniemi Y.A. (2003)
    10. Revised genomic structure of the human ghrelin gene and identification of novel exons, alternative splice variants and natural antisense transcripts. (PubMed id 17727735)1, 2 Seim I.... Chopin L.K. (2007)

    (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: 51738 HGNC: 18129 AceView: GHRL Ensembl:ENSG00000157017 euGenes: HUgn51738
    ECgene: GHRL H-InvDB: GHRL

    (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 GHRL Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GHRL Genetics and Cytogenetics in Oncology and Haematology
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/sptlt066.shtml
    Wikipedia http://en.wikipedia.org/wiki/Ghrelin

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

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



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