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Aliases for GHRHR Gene

Aliases for GHRHR Gene

  • Growth Hormone Releasing Hormone Receptor 2 3 5
  • GHRH Receptor 3 4
  • GRF Receptor 3 4
  • GRFR 3 4
  • Growth Hormone Releasing Hormone Receptor Variant 1 3
  • Growth Hormone Releasing Hormone Receptor Variant 2 3
  • Growth Hormone Releasing Hormone Receptor Variant 3 3
  • Growth Hormone Releasing Hormone Receptor Variant 4 3
  • Growth Hormone-Releasing Hormone Receptor 3
  • Growth Hormone-Releasing Factor Receptor 4
  • IGHD1B 3
  • GHRFR 3

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 Growth Hormone Deficiency, Isolated, Type Ib and Isolated Growth Hormone Deficiency, Type Ib, Ghrhr-Related. Among its related pathways are G alpha (s) signalling events 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 VIPR1.

UniProtKB/Swiss-Prot 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

Additional gene information for GHRHR Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GHRHR Gene

Genomics for GHRHR Gene

Regulatory Elements for GHRHR Gene

Enhancers for GHRHR Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H030910 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.7 -25.1 -25141 6 HDGF PKNOX1 ATF1 ARNT TCF12 ZNF766 GATA2 ELK1 ATF7 NCOA1 GHRHR ENSG00000250424 MINDY4 AQP1
GH07H030936 1.3 Ensembl ENCODE dbSUPER 0.7 -0.8 -834 2 HDAC1 HDGF ATF1 RB1 RAD21 ZNF143 RCOR1 ATF7 CREM ZBTB2 GHRHR AQP1
GH07H030919 1.4 Ensembl ENCODE dbSUPER 0.4 -17.7 -17681 2 PKNOX1 KLF17 GLI4 TCF12 GLIS2 ZNF366 ATF7 CREM ZNF398 MEF2D AQP1 GHRHR
GH07H030930 0.8 ENCODE dbSUPER 0.4 -6.7 -6722 2 EGR1 GLIS1 ZBTB33 RCOR1 NR2F2 ADCYAP1R1 GHRHR AQP1
GH07H030935 0.4 dbSUPER 0.7 -3.1 -3082 0 ADNP GHRHR AQP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GHRHR on UCSC Golden Path with GeneCards custom track

Genomic Location for GHRHR Gene

Chromosome:
7
Start:
30,938,669 bp from pter
End:
30,993,254 bp from pter
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 posLast=5050
  • 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
  • Predicted secreted proteins
  • Transporters

Suggested Antigen Peptide Sequences for GHRHR Gene

GenScript: Design optimal peptide antigens:

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

GENATLAS Biochemistry:
growth hormone releasing hormone receptor,G protein coupled receptor superfamily
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.

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 1333056
GO:0005515 protein binding IPI 1333056
GO:0016520 growth hormone-releasing hormone receptor activity IMP,NAS 7680413
GO:0017046 peptide hormone binding IPI 7680413
genes like me logo Genes that share ontologies with GHRHR: view
genes like me logo Genes that share phenotypes with GHRHR: view

Human Phenotype Ontology for GHRHR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GHRHR Gene

MGI Knock Outs for GHRHR:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GHRHR
  • Applied Biological Materials Clones for GHRHR
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 5
extracellular 1

Gene Ontology (GO) - Cellular Components for GHRHR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005637 nuclear inner membrane IDA 10461027
GO:0005640 nuclear outer membrane IDA 10461027
GO:0005737 cytoplasm IDA 10461027
GO:0005886 plasma membrane TAS,IDA --
GO:0009986 cell surface IDA 1333056
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 --
GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway IEA --
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

(15) 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 binder, Target, agonist 0
Tesamorelin Approved, Investigational Pharma binder, Target 0
BIM28011 Pharma Full agonist, Agonist 0

(4) 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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GHRHR
  • Applied Biological Materials Clones for GHRHR
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
ECgene alternative splicing isoforms for
GHRHR

Expression for GHRHR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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).

NURSA nuclear receptor signaling pathways regulating expression of GHRHR Gene:

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
Organs:
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

Primer Products

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 33 34
  • 99.13 (n)
dog
(Canis familiaris)
Mammalia GHRHR 33 34
  • 87.55 (n)
cow
(Bos Taurus)
Mammalia GHRHR 33
  • 85.33 (n)
GHRHREC 34
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ghrhr 33
  • 83.06 (n)
mouse
(Mus musculus)
Mammalia Ghrhr 33 16 34
  • 82.82 (n)
oppossum
(Monodelphis domestica)
Mammalia GHRHR 34
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves GHRHR 33 34
  • 62.94 (n)
lizard
(Anolis carolinensis)
Reptilia GHRHR 34
  • 55 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ghrhrl 33
  • 60.96 (n)
Species where no ortholog for GHRHR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for GHRHR Gene

Paralogs for GHRHR Gene

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

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

Variants for GHRHR Gene

Sequence variations from dbSNP and Humsavar for GHRHR Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs121918118 Pathogenic, Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] 30,971,183(+) AGCCC(A/T)CTTCG reference, missense
rs121918119 Pathogenic, Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] 30,974,112(+) AGCCT(G/T)CTGGT reference, missense
rs121918120 Pathogenic, Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] 30,974,052(+) GTTGG(A/C)AGAAG reference, missense
rs121918121 Pathogenic, Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] 30,976,439(+) TCTCC(A/G)AGTCG reference, missense
rs774281185 Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] 30,972,025(+) CAAGG(C/T)GGGAG reference, missense

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)

Relevant External Links for GHRHR Gene

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

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

Disorders for GHRHR Gene

MalaCards: The human disease database

(9) MalaCards diseases for GHRHR Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
growth hormone deficiency, isolated, type ib
  • isolated growth hormone deficiency type ib
isolated growth hormone deficiency, type ib, ghrhr-related
  • ighd1b
growth hormone deficiency
  • isolated somatotropin deficiency
isolated growth hormone deficiency
  • congenital ighd
dwarfism
- 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, 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. {ECO:0000269 PubMed:10084571, ECO:0000269 PubMed:11232012, ECO:0000269 PubMed:12534354}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for GHRHR Gene

dwarfism with growth hormone deficiency

Relevant External Links for GHRHR

Genetic Association Database (GAD)
GHRHR
Human Genome Epidemiology (HuGE) Navigator
GHRHR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GHRHR
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 22 60
  2. 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 22 45 60
  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 22 45 60
  4. Genetic screening of a Dutch population with isolated GH deficiency (IGHD). (PMID: 18785993) de Graaff LC … Hokken-Koelega AC (Clinical endocrinology 2009) 3 22 45 60
  5. Heterozygosity for a mutation in the growth hormone-releasing hormone receptor gene does not influence adult stature, but affects body composition. (PMID: 17356054) Pereira RM … Salvatori R (The Journal of clinical endocrinology and metabolism 2007) 3 22 45 60

Products for GHRHR Gene

  • Addgene plasmids for GHRHR

Sources for GHRHR Gene

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