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

GHRHR Gene

protein-coding   GIFtS: 62
GCID: GC07P030978

Growth Hormone Releasing Hormone Receptor

  See 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)
About This Section

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

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, and pancreatic islet cell tumors, and among its related super-pathways are Class A/1 (Rhodopsin-like receptors) and Signaling by GPCR. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.2  NT_007819.17  NT_079592.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for GHRHR

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: GHRHR_HUMAN, Q02643 (See protein sequence)
Recommended Name: Growth hormone-releasing hormone receptor precursor  
Size: 423 amino acids; 47402 Da
Subcellular location: Cell membrane; Multi-pass membrane protein
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 

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

GHRHR Protein Expression

REFSEQ proteins: NP_000814.2  
ENSEMBL proteins: 
 ENSP00000320180   ENSP00000387113   ENSP00000379529   ENSP00000386602   ENSP00000338184  
Reactome Protein details: Q02643
Human Recombinant Protein Products for GHRHR: 
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Novus Biologicals GHRHR Proteins
Novus Biologicals GHRHR Lysate
Browse Sino Biological Recombinant Proteins
Browse Sino Biological Cell Lysates 
Browse ProSpec Recombinant Proteins
Cloud-Clone Corp. Proteins for GHRHR 

Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (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

GHRHR for ontologies           About GeneDecksing



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Assay Products for GHRHR: 
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Cloud-Clone Corp. CLIAs for GHRHR


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


GHRHR 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: 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): 5/6 molecular function terms (GO ID links to tree view) (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
     
GHRHR for ontologies           About GeneDecksing


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

GHRHR for phenotypes           About GeneDecksing

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

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

miRNA
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Inhib. RNA
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GenScript: all cDNA clones in your preferred vector: GHRHR (NM_000823)
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GHRHR
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                     Customized lentivirus expression plasmids for stable overexpression of GHRHR 

Cell Line
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Search LifeMap BioReagents cell lines for GHRHR
In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GHRHR


(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 GHRHR About   (see all 6)                                                                                              See pathways by source

SuperPathContained pathways About
1Class A/1 (Rhodopsin-like receptors)
GPCR ligand binding0.71
Neuroactive ligand-receptor interaction0.37
2Signaling by GPCR
Signaling by GPCR0.90
Signal Transduction0.55
GPCR downstream signaling0.90
3Prostacyclin signalling through prostacyclin receptor
Glucagon-type ligand receptors0.58
G alpha (s) signalling events0.31
Class B/2 (Secretin family receptors)0.36
4G-Beta Gamma Signaling
GHRH Signaling0.46
5GPCRs, Other
GPCRs, Other

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

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

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

5/7        Reactome Pathways for GHRHR (see all 7)
    GPCR downstream signaling
Glucagon-type ligand receptors
Signal Transduction
Signaling by GPCR
GPCR ligand binding


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


GHRHR for pathways           About GeneDecksing

Interactions:

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GHRHR

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

5/66 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): 5/32 biological process terms (GO ID links to tree view) (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

GHRHR 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

GHRHR for compounds           About GeneDecksing

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

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

10/16 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)

Search CenterWatch for drugs/clinical trials and news about GHRHR

(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 GHRHR gene (2 alternative transcripts): 
NM_000823.3  NM_001009824.1  

Unigene Clusters for GHRHR:

Growth hormone releasing hormone receptor
Hs.767  [show with all ESTs], Hs.733003
Unigene Representative Sequences: AF282259, S79912
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
miRNA
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SwitchGear 3'UTR luciferase reporter plasmidGHRHR 3' UTR sequence
Inhib. RNA
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GenScript: all cDNA clones in your preferred vector: GHRHR (NM_000823)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for GHRHR
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GHRHR
Sirion Biotech Customized lentivirus for stable overexpression of GHRHR 
                     Customized lentivirus expression plasmids for stable overexpression of GHRHR 
Primer
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OriGene qPCR primer pairs and template standards for GHRHR
OriGene qSTAR qPCR primer pairs in human, mouse for GHRHR
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  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GHRHR
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GHRHR

Additional mRNA sequence: S79912.1 

4 DOTS entries:

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

15 AceView cDNA sequences:

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

GeneLoc Exon Structure

5/7 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™, 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

GHRHR expression in normal human tissues (normalized intensities)      GHRHR embryonic expression: see
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 
 5/1 selected tissues (see all 1) fully expand
 
 Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
         Myoblasts Mandibular Arch Muscles

 -- (Endocrine System)
         pituitary gland   

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

SOURCE GeneReport for Unigene clusters: Hs.767 Hs.733003

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

    SABiosciences Expression via Pathway-Focused PCR Array including GHRHR: 
          G Protein Coupled Receptors 384HT in human mouse rat

Primer
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OriGene qPCR primer pairs and template standards for GHRHR
OriGene qSTAR qPCR primer pairs in human, mouse for GHRHR
SABiosciences RT2 qPCR Primer Assay in human, mouse, rat GHRHR
QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GHRHR
QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GHRHR
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)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for GHRHR 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 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)
About This Section
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

GHRHR for paralogs           About GeneDecksing



(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

10/511 SNPs in GHRHR are shown (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
----------
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--------
rs1219181181,2,4
CGrowth hormone deficiency, isolated, 1B (IGHD1B)4 pathogenic130988868(+) AGCCCA/TCTTCG 2 H L mis10--------
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
SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
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

  • 20/39 diseases for GHRHR (see all 39):    About MalaCards
    isolated growth hormone deficiency    pancreatic islet cell tumors    isolated growth hormone deficiency type 1b    dwarfism
    growth hormone deficiency    short stature    growth hormone secreting pituitary adenoma    pituitary hypoplasia
    islet cell tumor    acromegaly    prolactinoma    gigantism
    multiple endocrine neoplasia    pituitary adenoma    pituitary tumors    hypopituitarism
    hypothyroidism    prostate cancer, progression of    hypoglycemia    osteosarcoma

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

    GHRHR for disorders           About GeneDecksing

    10/22 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)
    About This Section

    PubMed articles for GHRHR gene, integrated from 9 sources (see all 214):
    (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. (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. (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. (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. (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. (2001)
    6. A recurrent signal peptide mutation in the growth hor mone releasing hormone receptor with defective translocation to the cell surfac e and isolated growth hormone deficiency. (PubMed id 19622623)1, 4, 9 Godi M....Giordano M. (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. (1999)
    8. Genetic screening of a Dutch population with isolated growth hormone deficiency. (PubMed id 18785993)1, 4, 9 de Graaff L.C....Hokken-Koelega A.C. (2008)
    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. (2005)
    10. A study of relationships between single nucleotide po lymorphisms from the growth hormone-insulin-like growth factor axis and bone ma ss: the Hertfordshire cohort study. (PubMed id 19487270)1, 4, 9 Dennison E.M....Lips M.A. (2009)

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

      Query String
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    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: 2692 HGNC: 4266 AceView: GHRHR Ensembl:ENSG00000106128 euGenes: HUgn2692
    ECgene: GHRHR Kegg: 2692 H-InvDB: GHRHR

    (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 GHRHR Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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