GHRHR
growth hormone releasing hormone receptor, the group of Glucagon receptor family
Basic information
Region (hg38): 7:30938668-30993254
Links
Phenotypes
GenCC
Source:
- isolated growth hormone deficiency, type 4 (Strong), mode of inheritance: AR
- isolated growth hormone deficiency type IB (Supportive), mode of inheritance: AR
- isolated growth hormone deficiency type IB (Definitive), mode of inheritance: AR
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Isolated growth hormone deficiency, type IV | AR | Endocrine | Combined treatment of GH and GNRHa can be effective in increasing final height, even in the case of advanced bone age and pubertal stage, though consideration related to cardiovascular-related treatment effects may be beneficial | Endocrine | 8528260; 11443201; 17925337; 19733620; 21274317; 21044116; 22423511; 21816782; 21292919; 22416078 |
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (180 variants)
- Isolated growth hormone deficiency type IB (53 variants)
- Inborn genetic diseases (16 variants)
- not specified (8 variants)
- Isolated growth hormone deficiency, type 4 (7 variants)
- Idiopathic growth hormone deficiency (4 variants)
- Isolated congenital growth hormone deficiency (1 variants)
- - (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the GHRHR gene is commonly pathogenic or not.
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.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 13 | 19 | ||||
| missense | 54 | 17 | 81 | |||
| nonsense | 6 | |||||
| start loss | 2 | |||||
| frameshift | 6 | |||||
| inframe indel | 1 | |||||
| splice donor/acceptor (+/-2bp) | 3 | |||||
| splice region ? | 5 | 5 | 1 | 11 | ||
| non coding ? | 13 | 23 | 29 | 66 | ||
| Total | 10 | 3 | 80 | 55 | 36 |
Highest pathogenic variant AF is 0.0000986
Variants in GHRHR
This is a list of pathogenic ClinVar variants found in the GHRHR region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| GHRHR | protein_coding | protein_coding | ENST00000326139 | 13 | 54586 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 1.01e-7 | 0.931 | 125722 | 0 | 26 | 125748 | 0.000103 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.497 | 262 | 240 | 1.09 | 0.0000148 | 2733 |
| Missense in Polyphen | 88 | 86.55 | 1.0168 | 1110 | ||
| Synonymous | -1.77 | 121 | 98.7 | 1.23 | 0.00000643 | 845 |
| Loss of Function | 1.82 | 15 | 24.8 | 0.605 | 0.00000129 | 256 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000177 | 0.000177 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000163 | 0.000163 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000115 | 0.000114 |
| Middle Eastern | 0.000163 | 0.000163 |
| South Asian | 0.0000980 | 0.0000980 |
| Other | 0.000327 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Receptor for GRF, coupled to G proteins which activate adenylyl cyclase. Stimulates somatotroph cell growth, growth hormone gene transcription and growth hormone secretion.;
- Pathway
- Neuroactive ligand-receptor interaction - Homo sapiens (human);GPCRs, Other;GPCRs, Class B Secretin-like;Signaling by GPCR;Signal Transduction;G alpha (s) signalling events;Glucagon-type ligand receptors;Class B/2 (Secretin family receptors);GPCR ligand binding;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.223
Intolerance Scores
- loftool
- 0.824
- rvis_EVS
- -0.29
- rvis_percentile_EVS
- 33.42
Haploinsufficiency Scores
- pHI
- 0.148
- hipred
- N
- hipred_score
- 0.474
- ghis
- 0.411
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.223
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ghrhr
- Phenotype
- immune system phenotype; skeleton phenotype; limbs/digits/tail phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); reproductive system phenotype; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; endocrine/exocrine gland phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan);
Gene ontology
- Biological process
- cell surface receptor signaling pathway;G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;activation of adenylate cyclase activity;lactation;positive regulation of cell population proliferation;determination of adult lifespan;cAMP-mediated signaling;water homeostasis;growth hormone secretion;response to insulin;cellular response to insulin stimulus;regulation of intracellular steroid hormone receptor signaling pathway;positive regulation of multicellular organism growth;hormone metabolic process;positive regulation of insulin-like growth factor receptor signaling pathway;response to estrogen;positive regulation of circadian sleep/wake cycle, non-REM sleep;cell maturation;multicellular organismal reproductive process;regulation of protein metabolic process;response to glucocorticoid;positive regulation of growth hormone secretion;somatotropin secreting cell development;cellular response to glucose stimulus
- Cellular component
- nuclear inner membrane;nuclear outer membrane;cytoplasm;plasma membrane;cell surface;integral component of membrane;nuclear matrix;secretory granule;sarcolemma
- Molecular function
- G protein-coupled receptor activity;protein binding;G protein-coupled peptide receptor activity;growth hormone-releasing hormone receptor activity;peptide hormone binding;growth factor binding