GHSR
growth hormone secretagogue receptor, the group of Peptide receptors
Basic information
Region (hg38): 3:172443291-172448456
Links
Phenotypes
GenCC
Source:
- short stature due to GHSR deficiency (Moderate), mode of inheritance: Semidominant
- short stature due to GHSR deficiency (Supportive), mode of inheritance: AD
- short stature due to GHSR deficiency (Limited), mode of inheritance: AR
- short stature due to GHSR deficiency (Limited), mode of inheritance: AD
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Short stature | AD/AR | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Musculoskeletal | 16511605; 19789204; 21646290 |
ClinVar
This is a list of variants' phenotypes submitted to
- not_provided (165 variants)
- Inborn_genetic_diseases (32 variants)
- Short_stature_due_to_growth_hormone_secretagogue_receptor_deficiency (31 variants)
- not_specified (20 variants)
- GHSR-related_disorder (5 variants)
- Short_stature (1 variants)
- Pseudohypoparathyroidism_type_1B (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the GHSR gene is commonly pathogenic or not. These statistics are base on transcript: NM_000198407.2. Only rare variants are included in the table.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 47 | 54 | ||||
| missense | 116 | 128 | ||||
| nonsense | 6 | |||||
| start loss | 0 | |||||
| frameshift | 9 | |||||
| splice donor/acceptor (+/-2bp) | 2 | |||||
| Total | 1 | 3 | 134 | 55 | 6 |
Highest pathogenic variant AF is 0.0000334602
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| GHSR | protein_coding | protein_coding | ENST00000241256 | 2 | 3324 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.00658 | 0.921 | 125721 | 0 | 26 | 125747 | 0.000103 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.190 | 212 | 220 | 0.964 | 0.0000128 | 2364 |
| Missense in Polyphen | 63 | 74.868 | 0.84148 | 816 | ||
| Synonymous | -1.26 | 116 | 99.9 | 1.16 | 0.00000628 | 783 |
| Loss of Function | 1.55 | 5 | 10.4 | 0.481 | 5.36e-7 | 102 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000204 | 0.000204 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000133 | 0.000132 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000981 | 0.0000980 |
| Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Receptor for ghrelin, coupled to G-alpha-11 proteins. Stimulates growth hormone secretion. Binds also other growth hormone releasing peptides (GHRP) (e.g. Met-enkephalin and GHRP-6) as well as non-peptide, low molecular weight secretagogues (e.g. L-692,429, MK-0677, adenosine). {ECO:0000269|PubMed:10604470, ECO:0000269|PubMed:11322507}.;
- Pathway
- cAMP signaling pathway - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Peptide GPCRs;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Ghrelin;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (q) signalling events;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.224
Intolerance Scores
- loftool
- 0.429
- rvis_EVS
- -0.09
- rvis_percentile_EVS
- 46.92
Haploinsufficiency Scores
- pHI
- 0.589
- hipred
- Y
- hipred_score
- 0.651
- ghis
- 0.486
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.276
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ghsr
- Phenotype
- digestive/alimentary phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); homeostasis/metabolism phenotype; growth/size/body region phenotype;
Gene ontology
- Biological process
- G protein-coupled receptor signaling pathway;spermatogenesis;learning or memory;actin polymerization or depolymerization;adult feeding behavior;response to hormone;hormone-mediated signaling pathway;negative regulation of norepinephrine secretion;growth hormone secretion;response to food;negative regulation of appetite;positive regulation of appetite;response to follicle-stimulating hormone;response to estradiol;negative regulation of interleukin-1 beta production;cellular response to insulin stimulus;ghrelin secretion;positive regulation of multicellular organism growth;negative regulation of tumor necrosis factor biosynthetic process;regulation of hindgut contraction;positive regulation of insulin-like growth factor receptor signaling pathway;negative regulation of interleukin-6 biosynthetic process;positive regulation of fatty acid metabolic process;negative regulation of insulin secretion;decidualization;negative regulation of inflammatory response;regulation of synapse assembly;regulation of transmission of nerve impulse;regulation of growth hormone secretion;response to growth hormone;cellular response to lipopolysaccharide;response to dexamethasone;negative regulation of locomotion involved in locomotory behavior;cellular response to thyroid hormone stimulus;regulation of neurotransmitter receptor localization to postsynaptic specialization membrane;postsynaptic modulation of chemical synaptic transmission;regulation of postsynapse organization;positive regulation of small intestinal transit;positive regulation of sprouting angiogenesis;positive regulation of eating behavior;response to monosodium glutamate;positive regulation of small intestine smooth muscle contraction;negative regulation of tumor necrosis factor secretion;regulation of gastric motility;positive regulation of vascular endothelial cell proliferation;cellular response to insulin-like growth factor stimulus;negative regulation of macrophage apoptotic process
- Cellular component
- plasma membrane;cell surface;neuron projection;membrane raft;Schaffer collateral - CA1 synapse;postsynapse;glutamatergic synapse;integral component of synaptic membrane
- Molecular function
- growth hormone secretagogue receptor activity;G protein-coupled receptor activity;growth hormone-releasing hormone receptor activity;peptide hormone binding