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] See more...

Aliases for GHRHR Gene

Aliases for GHRHR Gene

  • Growth Hormone Releasing Hormone Receptor 2 3 5
  • Growth Hormone-Releasing Hormone Receptor 3 4
  • GHRH Receptor 3 4
  • GRF Receptor 3 4
  • GRFR 3 4
  • Growth Hormone-Releasing Factor Receptor 4
  • IGHD1B 3
  • GHRFR 3
  • IGHD4 3
  • GHRHR 5

External Ids for GHRHR Gene

Previous GeneCards Identifiers for GHRHR Gene

  • GC07P030646
  • GC07P030745
  • GC07P030776
  • GC07P030970
  • GC07P030885

Summaries for GHRHR Gene

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 Iv and Isolated Growth Hormone Deficiency, Type Ib. Among its related pathways are Signaling by GPCR and GPCRs, Other. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and peptide hormone binding. An important paralog of this gene is VIPR1.

UniProtKB/Swiss-Prot Summary for GHRHR Gene

  • 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 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GHRHR Gene

Genomics for GHRHR Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GHRHR Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J030936 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 -0.9 -898 2.5 CREB1 CTCF IKZF1 KDM1A JUND LARP7 ZNF143 REST RAD21 TRIM22 GHRHR NONHSAG047270.2 AQP1 GARS1-DT
GH07J030910 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.7 -25.1 -25141 6.8 ARHGAP35 ZBTB33 LEF1 IKZF1 JUND PRDM1 DDX20 MTA2 PHF21A RFX1 AQP1 GHRHR ENSG00000250424 MINDY4 GARS1 ENSG00000244480 NONHSAG047270.2 GARS1-DT
GH07J030917 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 0.4 -18.0 -17969 4.6 PRDM10 ZNF629 IKZF1 ZNF692 JUND MTA2 ZIC2 PKNOX1 PATZ1 ZNF600 NONHSAG047270.2 AQP1 ENSG00000250424 MINDY4 GHRHR GARS1-DT
GH07J030935 Enhancer 0.6 Ensembl dbSUPER 0.7 -3.4 -3368 0.6 BCOR ZNF768 ADNP ZMYM3 KDM1A ZFP36 GHRHR NONHSAG047270.2 AQP1 GARS1-DT
GH07J030930 Enhancer 0.9 Ensembl ENCODE dbSUPER 0.4 -6.0 -6002 4.3 TEAD4 ZIC2 EGR1 USF1 RCOR1 ZNF768 ADNP GLIS1 ZBTB33 CHD2 ADCYAP1R1 ENSG00000263683 GHRHR NONHSAG047270.2 AQP1 GARS1-DT
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GHRHR on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GHRHR

Top Transcription factor binding sites by QIAGEN in the GHRHR gene promoter:
  • AP-4
  • ER-alpha
  • Gfi-1
  • PPAR-gamma1
  • PPAR-gamma2
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT5B

Genomic Locations for GHRHR Gene

Genomic Locations for GHRHR Gene
chr7:30,938,669-30,993,254
(GRCh38/hg38)
Size:
54,586 bases
Orientation:
Plus strand
chr7:30,978,284-31,032,869
(GRCh37/hg19)
Size:
54,586 bases
Orientation:
Plus strand

Genomic View for GHRHR Gene

Genes around GHRHR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GHRHR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GHRHR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GHRHR Gene

Proteins for GHRHR Gene

  • Protein details for GHRHR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02643-GHRHR_HUMAN
    Recommended name:
    Growth hormone-releasing hormone receptor
    Protein Accession:
    Q02643
    Secondary Accessions:
    • Q99863

    Protein attributes for GHRHR Gene

    Size:
    423 amino acids
    Molecular mass:
    47402 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for GHRHR Gene

neXtProt entry for GHRHR Gene

Post-translational modifications for GHRHR Gene

  • Glycosylation at Asn50
  • Modification sites at PhosphoSitePlus

Other Protein References for GHRHR Gene

No data available for DME Specific Peptides for GHRHR Gene

Domains & Families for GHRHR Gene

Gene Families for GHRHR Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • G-protein coupled receptors
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for GHRHR Gene

InterPro:
Blocks:
  • G-protein coupled receptors family 2 (secretin-like)
  • Growth hormone-releasing hormone receptor signature
ProtoNet:

Suggested Antigen Peptide Sequences for GHRHR Gene

GenScript: Design optimal peptide antigens:
  • Growth hormone-releasing factor receptor (GHRHR_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q02643

UniProtKB/Swiss-Prot:

GHRHR_HUMAN :
  • Belongs to the G-protein coupled receptor 2 family.
Family:
  • Belongs to the G-protein coupled receptor 2 family.
genes like me logo Genes that share domains with GHRHR: view

Function for GHRHR Gene

Molecular function for GHRHR Gene

UniProtKB/Swiss-Prot 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:
growth hormone releasing hormone receptor,G protein coupled receptor superfamily

Phenotypes From GWAS Catalog for GHRHR Gene

Gene Ontology (GO) - Molecular Function for GHRHR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0004930 G protein-coupled receptor activity IEA,IC 7680413
GO:0005515 protein binding IPI 1333056
GO:0008528 G protein-coupled peptide receptor activity IBA 21873635
GO:0016520 growth hormone-releasing hormone receptor activity NAS,IMP 7680413
genes like me logo Genes that share ontologies with GHRHR: view
genes like me logo Genes that share phenotypes with GHRHR: view

Animal Models for GHRHR Gene

MGI Knock Outs for GHRHR:
  • Ghrhr Ghrhr<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GHRHR

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for GHRHR Gene

Localization for GHRHR Gene

Subcellular locations from UniProtKB/Swiss-Prot for GHRHR Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GHRHR gene
Compartment Confidence
plasma membrane 5
nucleus 4
extracellular 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for GHRHR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005637 nuclear inner membrane IDA 10461027
GO:0005640 nuclear outer membrane IDA 10461027
GO:0005737 cytoplasm IDA 10461027
GO:0005886 plasma membrane IDA,TAS --
genes like me logo Genes that share ontologies with GHRHR: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GHRHR Gene

Pathways & Interactions for GHRHR Gene

genes like me logo Genes that share pathways with GHRHR: view

Pathways by source for GHRHR Gene

Gene Ontology (GO) - Biological Process for GHRHR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007166 cell surface receptor signaling pathway IEA --
GO:0007186 G protein-coupled receptor signaling pathway IEA,TAS --
GO:0007188 adenylate cyclase-modulating G protein-coupled receptor signaling pathway IBA 21873635
GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway IDA 1333056
genes like me logo Genes that share ontologies with GHRHR: view

No data available for SIGNOR curated interactions for GHRHR Gene

Drugs & Compounds for GHRHR Gene

(14) Drugs for GHRHR Gene - From: DrugBank, DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sermorelin Approved, Withdrawn Pharma Target, agonist, binder 0
Tesamorelin Approved, Investigational Pharma Target, binder 22
BIM28011 Pharma Agonist, Full agonist 0

(5) Additional Compounds for GHRHR Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GHRHR: view

Transcripts for GHRHR Gene

mRNA/cDNA for GHRHR Gene

2 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GHRHR

Alternative Splicing Database (ASD) splice patterns (SP) for GHRHR Gene

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: - - -
SP6: - - - - -
SP7: -

Relevant External Links for GHRHR Gene

GeneLoc Exon Structure for
GHRHR

Expression for GHRHR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GHRHR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GHRHR Gene

This gene is overexpressed in Pituitary (x52.0).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GHRHR

SOURCE GeneReport for Unigene cluster for GHRHR Gene:

Hs.767

mRNA Expression by UniProt/SwissProt for GHRHR Gene:

Q02643-GHRHR_HUMAN
Tissue specificity: Pituitary gland.

Evidence on tissue expression from TISSUES for GHRHR Gene

  • Nervous system(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GHRHR Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • endocrine
  • skeleton
Regions:
Head and neck:
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • pituitary gland
  • skull
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with GHRHR: view

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for GHRHR Gene

Orthologs for GHRHR Gene

This gene was present in the common ancestor of chordates.

Orthologs for GHRHR Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GHRHR 30 31
  • 99.13 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GHRHR 30 31
  • 87.55 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GHRHR 30
  • 85.33 (n)
GHRHREC 31
  • 80 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ghrhr 30
  • 83.06 (n)
Mouse
(Mus musculus)
Mammalia Ghrhr 30 17 31
  • 82.82 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GHRHR 31
  • 54 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GHRHR 30 31
  • 62.94 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GHRHR 31
  • 55 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii ghrhrl 30
  • 60.96 (n)
Species where no ortholog for GHRHR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for GHRHR Gene

ENSEMBL:
Gene Tree for GHRHR (if available)
TreeFam:
Gene Tree for GHRHR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GHRHR: view image

Paralogs for GHRHR Gene

(14) SIMAP similar genes for GHRHR Gene using alignment to 5 proteins:

  • GHRHR_HUMAN
  • Q9HB42_HUMAN
  • Q9HB43_HUMAN
  • Q9HB44_HUMAN
  • Q9HB45_HUMAN
genes like me logo Genes that share paralogs with GHRHR: view

Variants for GHRHR Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GHRHR Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
15990 Pathogenic: Isolated growth hormone deficiency, type 4 30,964,126(+) G/A SPLICE_DONOR_VARIANT
715932 Likely Benign: not provided 30,975,050(+) T/C INTRON_VARIANT
729746 Conflicting Interpretations: Isolated growth hormone deficiency type 1B; not provided 30,976,423(+) C/A INTRON_VARIANT
749584 Conflicting Interpretations: Isolated growth hormone deficiency type 1B; not provided 30,968,869(+) C/T SYNONYMOUS_VARIANT
753674 Likely Benign: not provided 30,975,034(+) G/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for GHRHR Gene

Structural Variations from Database of Genomic Variants (DGV) for GHRHR Gene

Variant ID Type Subtype PubMed ID
dgv6316n100 CNV gain 25217958
esv2761316 CNV gain 21179565
nsv1068321 OTHER inversion 25765185
nsv1148830 OTHER inversion 26484159
nsv436557 CNV deletion 17901297
nsv527038 CNV gain 19592680
nsv527586 CNV loss 19592680

Variation tolerance for GHRHR Gene

Residual Variation Intolerance Score: 62.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.99; 68.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GHRHR Gene

Human Gene Mutation Database (HGMD)
GHRHR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GHRHR

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GHRHR Gene

Disorders for GHRHR Gene

MalaCards: The human disease database

(19) MalaCards diseases for GHRHR Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GHRHR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GHRHR_HUMAN
  • Growth hormone deficiency, isolated, 4 (IGHD4) [MIM:618157]: An autosomal recessive deficiency of growth hormone leading to early and severe growth failure and 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. {ECO:0000269 PubMed:10084571, ECO:0000269 PubMed:11232012, ECO:0000269 PubMed:12534354, ECO:0000269 PubMed:8528260, ECO:0000269 PubMed:9467553}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for GHRHR Gene

dwarfism with growth hormone deficiency

Additional Disease Information for GHRHR

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with GHRHR: view

Publications for GHRHR Gene

  1. Molecular cloning and expression of a human anterior pituitary receptor for growth hormone-releasing hormone. (PMID: 7680413) Gaylinn BD … Thorner MO (Molecular endocrinology (Baltimore, Md.) 1993) 2 3 4 23
  2. Genetic screening of a Dutch population with isolated GH deficiency (IGHD). (PMID: 18785993) de Graaff LC … Hokken-Koelega AC (Clinical endocrinology 2009) 3 23 41
  3. Extended haplotypes in the growth hormone releasing hormone receptor gene (GHRHR) are associated with normal variation in height. (PMID: 19209235) Johansson A … Gyllensten U (PloS one 2009) 3 23 41
  4. A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency. (PMID: 19622623) Godi M … Giordano M (The Journal of clinical endocrinology and metabolism 2009) 3 23 41
  5. A study of relationships between single nucleotide polymorphisms from the growth hormone-insulin-like growth factor axis and bone mass: the Hertfordshire cohort study. (PMID: 19487270) Dennison EM … Hertfordshire Cohort Study Group (The Journal of rheumatology 2009) 3 23 41

Products for GHRHR Gene

Sources for GHRHR Gene