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GHRHR Gene

protein-coding   GIFtS: 63
GCID: GC07P030978

Growth Hormone Releasing Hormone Receptor

  See GHRHR-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Growth Hormone Releasing Hormone Receptor1 2     GHRFR2 5
GRFR2 3     IGHD1B2 5
GHRH Receptor2 3     Growth Hormone-Releasing Hormone Receptor2
GRF Receptor2 3     Growth Hormone-Releasing Factor Receptor3

External Ids:    HGNC: 42661   Entrez Gene: 26922   Ensembl: ENSG000001061287   OMIM: 1391915   UniProtKB: Q026433   

Export aliases for GHRHR gene to outside databases

Previous GC identifers: GC07P030646 GC07P030745 GC07P030776 GC07P030970 GC07P030885


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GHRHR Gene:
This gene encodes a receptor for growth hormone-releasing hormone. Binding of this hormone to the receptor leads
to synthesis and release of growth hormone. Mutations in this gene have been associated with isolated growth
hormone deficiency (IGHD), also known as Dwarfism of Sindh, a disorder characterized by short stature. (provided
by RefSeq, Jun 2010)

GeneCards Summary for GHRHR Gene:
GHRHR (growth hormone releasing hormone receptor) is a protein-coding gene. Diseases associated with GHRHR include isolated growth hormone deficiency, type ib, ghrhr-related, and pancreatic islet cell tumors. GO annotations related to this gene include G-protein coupled receptor activity and peptide hormone binding. An important paralog of this gene is GLP1R.

UniProtKB/Swiss-Prot: GHRHR_HUMAN, Q02643
Function: Receptor for GRF, coupled to G proteins which activate adenylyl cyclase. Stimulates somatotroph cell
growth, growth hormone gene transcription and growth hormone secretion

Gene Wiki entry for GHRHR (Growth-hormone-releasing hormone receptor) Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NC_018918.2  NT_007819.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the GHRHR gene promoter:
         ER-alpha   STAT5B   STAT1   STAT1beta   AP-4   Gfi-1   STAT1alpha   PPAR-gamma1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGHRHR promoter sequence
   Search Chromatin IP Primers for GHRHR

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GHRHR


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

Entrez Gene cytogenetic band: 7p14   Ensembl cytogenetic band:  7p14.3   HGNC cytogenetic band: 7p14

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

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P030978:  view genomic region     (about GC identifiers)

Start:
30,978,284 bp from pter      End:
31,032,869 bp from pter
Size:
54,586 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 31,053,140-31,068,651     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GHRHR_HUMAN, Q02643 (See protein sequence)
Recommended Name: Growth hormone-releasing hormone receptor precursor  
Size: 423 amino acids; 47402 Da
1 PDB 3D structure from and Proteopedia for GHRHR:
2XDG (3D)    
Secondary accessions: Q99863

Explore the universe of human proteins at neXtProt for GHRHR: NX_Q02643

Explore proteomics data for GHRHR at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn50

  • See GHRHR Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000814.2  
    ENSEMBL proteins: 
     ENSP00000320180   ENSP00000387113   ENSP00000379529   ENSP00000386602   ENSP00000338184  
    Reactome Protein details: Q02643

    GHRHR Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    GCGR: GPCR / Class B : Glucagon receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: GHRH receptor
    Glucagon receptor family

    5 InterPro protein domains:
     IPR001879 GPCR_2_extracellular_dom
     IPR000832 GPCR_2_secretin-like
     IPR003288 GPCR_2_GHRH_rcpt
     IPR017983 GPCR_2_secretin-like_CS
     IPR017981 GPCR_2-like

    Graphical View of Domain Structure for InterPro Entry Q02643

    ProtoNet protein and cluster: Q02643

    2 Blocks protein domains:
    IPB000832 G-protein coupled receptors family 2 (secretin-like)
    IPB003288 Growth hormone-releasing hormone receptor signature


    UniProtKB/Swiss-Prot: GHRHR_HUMAN, Q02643
    Similarity: Belongs to the G-protein coupled receptor 2 family


    Find genes that share domains with GHRHR           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GHRHR_HUMAN, Q02643
    Function: Receptor for GRF, coupled to G proteins which activate adenylyl cyclase. Stimulates somatotroph cell
    growth, growth hormone gene transcription and growth hormone secretion

         Genatlas biochemistry entry for GHRHR:
    growth hormone releasing hormone receptor,G protein coupled receptor superfamily

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004888transmembrane signaling receptor activity ----
    GO:0004930G-protein coupled receptor activity IC1333056
    GO:0005515protein binding IPI1333056
    GO:0016520growth hormone-releasing hormone receptor activity IMP7680413
    GO:0017046peptide hormone binding IPI7680413
         
    Find genes that share ontologies with GHRHR           About GenesLikeMe


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ghrhr):
     adipose tissue  behavior/neurological  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism 
     immune system  integument  limbs/digits/tail  nervous system  reproductive system 
     skeleton 

    Find genes that share phenotypes with GHRHR           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GHRHR
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GHRHR_HUMAN, Q02643: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    nucleus4
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005637nuclear inner membrane IDA10461027
    GO:0005640nuclear outer membrane IDA10461027
    GO:0005737cytoplasm IDA10461027
    GO:0005886plasma membrane TAS--
    GO:0009986cell surface IDA1333056

    Find genes that share ontologies with GHRHR           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for GHRHR About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Peptide ligand-binding receptors
    GPCR ligand binding0.71
    Neuroactive ligand-receptor interaction0.36
    2Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    3ADP signalling through P2Y purinoceptor 12
    Glucagon-type ligand receptors0.61
    Class B/2 (Secretin family receptors)0.36
    4G-Beta Gamma Signaling
    GHRH Signaling0.46
    5GPCRs, Other
    GPCRs, Other


    Find genes that share SuperPaths with GHRHR           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for GHRHR
        GHRH Signaling

    2 BioSystems Pathways for GHRHR
        GPCRs, Other
    GPCRs, Class B Secretin-like

    2 Reactome Pathways for GHRHR
        Glucagon-type ligand receptors
    G alpha (s) signalling events


    1 Kegg Pathway  (Kegg details for GHRHR):
        Neuroactive ligand-receptor interaction

        Pathway & Disease-focused RT2 Profiler PCR Array including GHRHR: 
              G Protein Coupled Receptors 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GHRHR

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

    Selected Interacting proteins for GHRHR (Q026433 ENSP000003201804) via UniProtKB, MINT, STRING, and/or I2D (see all 66)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GHRHP012863, ENSP000002375274I2D: score=1 STRING: ENSP00000237527
    GHRLQ9UBU33, ENSP000003350744I2D: score=1 STRING: ENSP00000335074
    MLNRO431933, ENSP000002187214I2D: score=1 STRING: ENSP00000218721
    ADCY2ENSP000003429524STRING: ENSP00000342952
    ADCY8ENSP000002863554STRING: ENSP00000286355
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 32):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction ----
    GO:0007166cell surface receptor signaling pathway ----
    GO:0007186G-protein coupled receptor signaling pathway ----
    GO:0007188adenylate cyclase-modulating G-protein coupled receptor signaling pathway ----
    GO:0007189adenylate cyclase-activating G-protein coupled receptor signaling pathway IDA1333056

    Find genes that share ontologies with GHRHR           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GHRHR

    2 DrugBank Compounds for GHRHR    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Sermorelin-- 86168-78-7targetagonist14499707 11752352
    TesamorelinEgrifta (see all 7)901758-09-6targetbinder22298602

    1 IUPHAR Ligand for GHRHR (GHRH receptor)    About this table
    LigandTypeActionAffinityPubmed IDs
    BIM28011
    AgonistFull agonist8993400

    Selected Novoseek inferred chemical compound relationships for GHRHR gene (see all 16)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ghrp 73.8 1 11081183 (1)
    hexarelin 50.4 1 10084578 (1)
    adenylate 48 5 9605937 (1), 11165046 (1), 16553291 (1)
    ribonucleic acid 33.5 4 7559877 (2), 19029774 (1)
    forskolin 29.8 1 9482665 (1)
    cyclic amp 16.7 1 11380500 (1)
    glucose 4.61 1 18413425 (1)
    lysine 0 1 11875102 (1)
    calcium 0 2 9798733 (1), 15728367 (1)
    silver 0 1 8660323 (1)



    Find genes that share compounds with GHRHR           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GHRHR gene (2 alternative transcripts): 
    NM_000823.3  NM_001009824.1  

    Unigene Cluster for GHRHR:

    Growth hormone releasing hormone receptor
    Hs.767  [show with all ESTs]
    Unigene Representative Sequence: AF282259
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000466427 ENST00000326139(uc003tbx.3) ENST00000409904(uc003tby.3)
    ENST00000396227 ENST00000409316(uc003tbz.3) ENST00000337750 ENST00000489974
    ENST00000461424 ENST00000461390 ENST00000463164 ENST00000473133
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    Additional mRNA sequence: 

    AF282259.1 AF282260.1 AF282261.1 AF282262.1 AY557192.1 L01406.1 L09237.1 

    4 DOTS entries:

    DT.408967  DT.95266259  DT.95266258  DT.454889 

    15 AceView cDNA sequences:

    AY557192 AF282261 AF282262 AF282260 L09237 AF282259 L01406 S79912 
    CD107584 NM_000823 AB058895 BV183588 T29545 BV196206 AV750179 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GHRHR (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17
    SP1:                    -           -                 -                                                                     
    SP2:                                -                 -     -                                                               
    SP3:                                -                 -                                                                     
    SP4:                                                                                      -     -     -                     
    SP5:                                -                 -     -                                                               


    ECgene alternative splicing isoforms for GHRHR

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GHRHR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCCTGAGCT
    GHRHR Expression
    About this image


    GHRHR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles
    GHRHR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GHRHR Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.767

    UniProtKB/Swiss-Prot: GHRHR_HUMAN, Q02643
    Tissue specificity: Pituitary gland

        Pathway & Disease-focused RT2 Profiler PCR Array including GHRHR: 
              G Protein Coupled Receptors 384HT in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GHRHR

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for GHRHR gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ghrhr1 , 5 growth hormone releasing hormone receptor1, 5 82.82(n)1
    81.56(a)1
      6 (27.38 cM)5
    146021  NM_001003685.31  NP_001003685.21 
     553762955 
    chicken
    (Gallus gallus)
    Aves GHRHR1 growth hormone releasing hormone receptor 62.94(n)
    62.29(a)
      420385  NM_001037834.2  NP_001032923.1 
    lizard
    (Anolis carolinensis)
    Reptilia GHRHR6
    growth hormone releasing hormone receptor
    55(a)
    1 ↔ 1
    6(1946687-1962591)
    zebrafish
    (Danio rerio)
    Actinopterygii ghrhrl1 growth hormone releasing hormone receptor, like 60.96(n)
    57.37(a)
      793334  NM_001082482.1  NP_001075951.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GHRHR gene
    GLP1R2  GCGR2  CALCR2  PTH1R2  CRHR22  VIPR12  CRHR12  PTH2R2  
    CALCRL2  SCTR2  ADCYAP1R12  GLP2R2  VIPR22  GIPR2  
    14 SIMAP similar genes for GHRHR using alignment to 5 protein entries:     GHRHR_HUMAN (see all proteins):
    GHRHRpsv    PTHR2    GLP2R    SCTR    VIPR1    VIPR2
    GCGR    ADCYAP1R1    GIPR    PTH1R    CRHR1    PTH2R
    GLP1R    CRHR2

    Find genes that share paralogs with GHRHR           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GHRHR (see all 511)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219181181,2,,4
    CGrowth hormone deficiency, isolated, 1B (IGHD1B)4 pathogenic130988868(+) AGCCCA/TCTTCG 2 H L mis10--------
    VAR_0157974
    Growth hormone deficiency, isolated, 1B (IGHD1B)4--see VAR_0157972 A V mis40--------
    VAR_0157984
    Growth hormone deficiency, isolated, 1B (IGHD1B)4--see VAR_0157982 A E mis40--------
    VAR_0157994
    Growth hormone deficiency, isolated, 1B (IGHD1B)4--see VAR_0157992 F C mis40--------
    VAR_0362234
    A colorectal cancer sample4--see VAR_0362232 A T mis40--------
    VAR_0158004
    Growth hormone deficiency, isolated, 1B (IGHD1B)4--see VAR_0158002 K E mis40--------
    rs49884961,2,,4
    C,F,Hnon-pathogenic130986756(+) GCCCTG/ACGACC 2 /T /A mis1 ese327Minor allele frequency- A:0.14NA EU CSAM EA NS WA 6167
    rs49884981,2,,4
    C,F,Hnon-pathogenic130987646(+) GCTGAG/TGAGGT 2 E D mis1 ese331Minor allele frequency- T:0.08NS EA NA EU CSAM WA 9268
    rs49884991,2
    Cnon-pathogenic130987662(+) TCTTCT/GGGCAT 1 -- int110Minor allele frequency- G:0.04NA EU CSAM EA NS WA 1227
    rs7403361,2
    C,F,Hnon-pathogenic130989747(+) TTCCAC/TAGCGA 2 H syn1 ese328Minor allele frequency- T:0.06NA EA NS EU CSAM MN WA 8523

    HapMap Linkage Disequilibrium report for GHRHR (30978284 - 31032869 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for GHRHR:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv436557CNV Deletion17901297
    nsv527586CNV Loss19592680
    nsv527038CNV Gain19592680

    Human Gene Mutation Database (HGMD): GHRHR
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GHRHR
    DNA2.0 Custom Variant and Variant Library Synthesis for GHRHR

    (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.)
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    OMIM gene information: 139191   
    OMIM disorders: 612781  
    UniProtKB/Swiss-Prot: GHRHR_HUMAN, Q02643
  • Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781]: An autosomal recessive deficiency of
    growth hormone leading to short stature. Patients have low but detectable levels of growth hormone, significantly
    retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • 13 diseases for GHRHR:    
    About MalaCards
    isolated growth hormone deficiency, type ib, ghrhr-related    pancreatic islet cell tumors    isolated growth hormone deficiency    growth hormone deficiency
    isolated growth hormone deficiency type 1b    pituitary hypoplasia    dwarfism    prolactinoma
    somatostatin analog    short stature    pituitary tumors    acromegaly
    prostate cancer

    1 disease from the University of Copenhagen DISEASES database for GHRHR:
    Pituitary hypoplasia

    Find genes that share disorders with GHRHR           About GenesLikeMe

    Selected Novoseek inferred disease relationships for GHRHR gene (see all 22)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    growth hormone deficiency 80.7 19 16355809 (1), 19209235 (1), 10822217 (1), 12414875 (1) (see all 10)
    dwarfism 73.1 18 10549302 (2), 10084571 (2), 19733620 (1), 11145605 (1) (see all 10)
    short stature 64.3 2 9238854 (1), 9814493 (1)
    pituitary tumors 61.4 8 11502843 (4), 10999842 (1), 9176381 (1), 12429040 (1)
    pituitary adenoma 60.1 25 19029774 (4), 7559877 (3), 10359139 (2), 9667225 (2) (see all 8)
    growth failure 53.3 1 8528260 (1)
    acromegaly 51.8 8 11158006 (3), 9024267 (1), 11453963 (1), 11165046 (1)
    hypoplasia 51.3 10 10782778 (2), 8875435 (2), 15049962 (1), 11036940 (1)
    prolactinoma 43.1 5 10359139 (4), 12165656 (1)
    somatic mutations 41.3 1 8396832 (1)

    Genatlas disease: GHRHR
    dwarfism with growth hormone deficiency

    Genetic Association Database (GAD): GHRHR
    Human Genome Epidemiology (HuGE) Navigator: GHRHR (25 documents)

    Export disorders for GHRHR 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)
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    PubMed articles for GHRHR gene, integrated from 10 sources (see all 216):
    (articles sorted by number of sources associating them with GHRHR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and expression of a human anterior pituitary receptor for growth hormone-releasing hormone. (PubMed id 7680413)1, 2, 3, 9 Gaylinn B.D....Thorner M.O. (Mol. Endocrinol. 1993)
    2. Extended haplotypes in the growth hormone releasing hormone receptor gene (GHRHR) are associated with normal variation in height. (PubMed id 19209235)1, 4, 9 Johansson A....Gyllensten U. (PLoS ONE 2009)
    3. Heterozygosity for a mutation in the growth hormone-releasing hormone receptor gene does not influence adult stature, but affects body composition. (PubMed id 17356054)1, 4, 9 Pereira R.M....Salvatori R. (J. Clin. Endocrinol. Metab. 2007)
    4. A new missense mutation in the growth hormone-releasing hormone receptor gene in familial isolated GH deficiency. (PubMed id 12534354)1, 2, 9 Carakushansky M.... Salvatori R. (Eur. J. Endocrinol. 2003)
    5. Three new mutations in the gene for the growth hormone (GH)-releasing hormone receptor in familial isolated GH deficiency type IB. (PubMed id 11232012)1, 2, 9 Salvatori R....Levine M.A. (J. Clin. Endocrinol. Metab. 2001)
    6. A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency. (PubMed id 19622623)1, 4, 9 Godi M....Giordano M. (J. Clin. Endocrinol. Metab. 2009)
    7. Familial dwarfism due to a novel mutation of the growth hormone- releasing hormone receptor gene. (PubMed id 10084571)1, 2, 9 Salvatori R.... Levine M.A. (J. Clin. Endocrinol. Metab. 1999)
    8. Genetic screening of a Dutch population with isolated GH deficiency (IGHD). (PubMed id 18785993)1, 4, 9 de Graaff L.C....Hokken-Koelega A.C. (Clin. Endocrinol. (Oxf) 2009)
    9. Pituitary growth hormone and growth hormone-releasing hormone receptor genes and associations with mammographic measures and serum growth hormone. (PubMed id 16284391)1, 4, 9 Mulhall C....Boyd N.F. (amp 2005)
    10. A study of relationships between single nucleotide polymorphisms from the growth hormone-insulin-like growth factor axis and bone mass: the Hertfordshire cohort study. (PubMed id 19487270)1, 4, 9 Dennison E.M....Lips M.A. (J. Rheumatol. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 2692 HGNC: 4266 AceView: GHRHR Ensembl:ENSG00000106128 euGenes: HUgn2692
    ECgene: GHRHR Kegg: 2692 H-InvDB: GHRHR

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GHRHR Pharmacogenomics, SNPs, Pathways

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

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



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